Bricen's Way

My Version of a "Mastercard" commerial

2011-11-07T11:37:00.000-06:00

Cost of Medic Alert Membership: $19.99
Cost of Medic Alert Bracket: $ 9.99
Peace of Mind: PRICELESS

His Bracelet - it's the smallest standard size available

It's a personal choice whether or not a mito child wears a bracelet. We decided Bricen needed one for several reasons:

Bricen suffers with lactic acidemia (caused by mito). This means his lactic acid is chronically high. The standard protocol used by EMT's and ER's across the county in case of an emergency, is the use of IV solution called Lactated Ringers. The infusion of an IV solution pumped full of a type of lactic acid, into a little body who's lactic acid runs high, can reek havoc. We're talking about an outcome that can be fatal. On the flip side of the bracelet, the first words are "NO LACTATED RINGERS". So, if we're unable/unavailable to yell, "no lactated ringers", his bracelet will yell for us!!
Bricen talks, but has limited verbal skills. He doesn't answer personal questions (name, phone number, parents, etc). If he falls or bumps into something, he's pretty good about telling where he hurts, but lacks the skills to tell us about internal pain. If it's apparent something hurts, you can ask "does your stomach hurt" and he'll reply "yes". We thought he had reached a milestone until we asked "does your head hurt" and he also replied "yes". Medic Alert suggested putting "Limited Verbal Communication" on the bracelet. This will be helpful not only to emergency personnel, but in the (unlikely) event Bricen is lost or wanders off.
Bricen's Protocol Letter from Dr. Koenig is only a phone call away!! The letter is attached to Bricen's file to ensure Dr. Koenig's medical instructions are followed.

Those are only three of the many reasons, Bricen sports a shiny bracelet. If you ask him what the bracelet says, he'll responds "it tells all about Bricen".

It's a bittersweet blessing. The pain of knowing he needs a bracelet to, perhaps, save his life, coupled with the relief he has a bracelet that, perhaps, will save his life. Such is life with mito.

Bricen's a Courageous Kid Camper!!!

2011-10-30T18:09:00.000-05:00

My heart is blessed as I write this post. Bricen had the honor of spending the weekend at The Center for Courageous Kids.

Their slogan "We Prescribe Fun" says it all

Only 3 years old, this camp was build to cater to special needs children. During the summer, week long camps are held for children only. Each week focuses on children with like diagnoses. One week, the campers are children with cancer, the next may be children with vision/hearing loss, the next may focus on epilepsy, then Muscularly Dystrophy...well, you get the point. The rest of the year, the camp is open on the weekends for the entire family, with each weekend pin pointing a different disability. The camp host a full time staff, a medical center and acres of beautiful land, complete with pond. The list of activities is almost endless.

Bowling

Horse Back riding (indoor and outdoor arena). Notice the wig on Bricen's horse?? The horses were dressed up for Halloween!!

Paddle boats

Canoing

Fishing

Indoor heated swimming pool

Each family is assigned a volunteer for the weekend to help ensure a memorable visit.

Rachel was Bricen's special friend. She was super nice!!!

There is a theme for each weekend. With Halloween right around the corner, this weekend was all about Halloween. There was an outside carnival, where spooks and goblins (and the occasional Mario) could play games, ride carts and dance.

Notice his big belly??? It's the only time in his life he's had one!!

The attention to detail for special needs children blew me away. The swimming pool area had a "warming" room to quickly warm up the children (as needed) as they left the water. The dining hall staff was on the look out for children sensitive to noise, since they encouraged everyone to join in singing. Bricen was rushed a pair of noise reducing earphones the minute he covered his ears.

Campers from all over the United States travel to CCK. We are blessed because it's only 35 minutes from my house!!!

Bricen was one happy camper!!!

Bricen attended this weekend due to epilepsy; however, he can also attend for vision loss, development delay and Muscularly Dystrophy. Slots are first filled with children that have never attended the camp, then opened up for returning campers on a first come, first served basis. We look forward to returning. Maybe we'll see some of you there....wouldn't that be fun????

Check it out for youself The Center for Courageous kids

Mito Meeting/Mario "grows" a beard

2011-10-23T19:12:00.000-05:00

Saturday was our Mito Chapter's meeting at Vandy. Two ladies from UMDF were guest speakers. The UMDF's in the process of "market" testing a new structure for their chapters and the Nashville chapter (formerly know as the Middle TN chapter) has been selected as one of the pilots!!

The children were encouraged to dress in their Halloween costumes. Bricen went as Mario, Addie (whom I was babysitting) went as a kitty-cat (it was really a leopard, but we couldn't convince her of that)!!

Isn't she cute?!?!?

Taking a business call

Those of you who are "gamers", have children that are, or hang around with them, know Mario (from Super Mario or Mario Wii) is a portly little man with a large bushy mustache. Bricen's room at home was recently done in Mario Wii, so he currently loves all things Mario....except the mustache.

This tickles!!!

Let me try this....

Much better!!

Is it just me, or does he really look like Honest Abe in a puffy hat?????

Freckle face, you've got the cutest little freckle face,

2011-10-14T17:16:00.000-05:00

Due to heat intolerance, Bricen's time spent outside was limited this summer. However, it was often enough for him to get the cutest little freckles sprinkled across his nose and face!!

After having to keep still to have close up pictures of his face, he decided he needed to take pictures of his knees.

He crawls quite a bit, so his knees stay beat up

Happy Birthday to you.....

2011-10-01T20:25:00.000-05:00

You live in a zoo, you look like a doggie and you smell like one too

Bricen is five years old!!!! Given a choice between a monster or a doggie theme birthday party, he wanted the.....

the doggie (the first two pics were a give away)!!!

The doggie hat from GG (my mom) and his new boots were Bricen's hands down favorite

The adults joined in the fun by having a modeling contest of Bricen's doggie ears

Grumpy trying to look "grumpy"

But, no one could beat Bricen!!!

Note the monster shirt...a blending of the two themes

No one could resist the delicious cake

Happy 5th Birthday little boy....we all love you!!!!

Primary Mitochondrial Disease Diagnoses - The road to discovery

2011-09-30T13:41:00.000-05:00

Be forewarned; this post isn't silly. To date, it's the hardest post I've had to write. It may be a jumbled mess - because that's how I feel right now.

Wednesday Bricen was diagnosed with Primary Mitochondrial Disease (disease, disorder and dysfunction are interchangeable according to Dr. Koenig).

From the time he an infant, I knew something was wrong with Bricen. Being born five weeks early just didn't explain his delays. Other then learning to turn over, he didn't meet any milestones his first year of life, not a single one. He was vocal and would laugh at silly noises or when tickled. He was a dream baby, sleeping all night, sitting in his carrier or lying in his bed, never crying. He was TOO good.

He had sever nystagmus (twitching of his eyes), hypotonia (floppy) and GERD (Gastroesophageal reflux disease). Seizing on his hypotonia, I started a four year quest. I researched all know causes of hypotonia - joining support groups and Internet boards. As an industrial engineer by trade, problem solving was second nature to me. In something as importent as my grandson, I spent untold hours on the computer.

I was THAT grandmother, pushing and pushing Derek and Brandalyn (Bricen's parents) to take him to specialists, but they weren't ready to admit he had a problem, holding on the the GP's promise that he would "catch up" by the age of five. I held my tongue and kept on researching. At the age of 15 months, his GP ordered an MRI due to his continued nystagmus. The MRI showed narrowing of the optic nerves: a diagnosis of Optic Nerve Atrophy was added to the mix.

Turning two, Bricen wasn't able to take more than one step without falling and wasn't talking. He had been in Early Inventive for about 7 months and was slowly but steady making progress.

It was around this time, one of the children on the hypotonia board was diagnosed with mito. I went to the UMDF (United Mitochondrial Disease Foundation) website, but discounted mito for Bricen. Then, a second child was diagnosed with mito. Both children were unable to eat orally, so again I discounted mito for Bricen. When the third child from the board was diagnosed, a child with NO eating disorders, I again visited the UMDF website. Digging deeper this visit, I learned no two children present the same with mito. Ten children could be in a room, all diagnosed with mito, all with different symptoms. To be diagnosed with mito, three body systems must be involved, but it can be ANY three systems, hence the wide array of disease presentation. I learned that unless the mitochondrial disease is caused by one of the few know gene defects, it's hard to diagnose and only a handful of doctors, scattered across the United States, are qualified in diagnosing the harder cases. With a click of my mouse, the focus of my life changed forever, as a page of dozens of symptoms were arranged by body function. Under stomach was GERD; under muscle was hypotonia, and under eyes was optic nerve atrophy. It was the optic nerve atrophy that caused my stomach to knot up. The atrophy had always seemed so random to me, with all the reasons I had previously researched on the Internet not fitting Bricen. To this day, I'm not sure how I KNEW Bricen had mito. No testing had ever pointed to mito, but I knew I had found the answer.

Relations with my son became tense as both of us spoke our mind. I'll never forget the day Derek asked why I couldn't love Bricen just as he was. I explained it was my love FOR Bricen, combined with fear driving me, not my inability to accept or love him. I'll also never forget the day when, Brandalyn or him hadn't made a appointment with a specialist,  I told Derek he needed to step up to the plate and get Bricen the help he needed. Derek stepped back as if I'd physically hit him, asking if I was saying he was a bad father.  I replied "ignoring Bricen's problems because of your own fear wasn't fair to Bricen. That my fear was driving me to action while your fear paralyzes you. Bricen is having seizures and how could you risk brain damage by ignoring them, in an attempt to keep from dealing with the emotions sure to surface".  Don't get me wrong, Bricen's parents love him with all their heart and their world revolves around him. They just wanted to live a normal life with a normal child and weren't ready to lose that dream. A week later, Bricen's special needs preschool teacher said she though Bricen was having seizures and an appointment with a neurologist was made.

The neuro ordered a 20 minute EEG, which was normal, said he couldn't believe Bricen's earlier MRI was normal (due to Bricen's marked delays) and when I asked about mito he waved his hand, brushing off my worries as someone who "reads to much on the computer" (his exact words).

Soon after the neuro appointment, Bricen's GP recommended seeing a geneticists. He walked into the room, stated he was going to order a slew of tests, and to return in 6 weeks. At that appointment he said he thought a muscle biopsy would be in order. He walked into the room thinking "mito". As he expected, all Bricen's labs were normal but his lactic acid and alanine, which were elevated.

Bricen's muscle biopsy proved non-conclusive. Some aspects pointed to a mitochondrial dysfunction, but his ETC was within normal limits. Vanderbilt doesn't recognize mito unless one of those few known gene defects mentioned above are found so they recommended waiting for a couple of years to see what happened.

In my continuing research on the Internet, I'd joined several mito boards and knew by a number of comments that Dr. Koenig would be a great match for Bricen. I encouraged Derek and Brandalyn to have just one appointment to completely rule out mito (mind you, I remained convinced it was mito). In July 2010, we traveled to Houston. My relief was so great I almost cried when she walked into the room. I've never prayed that Bricen didn't have mito. Some think that strange, but I felt Bricen was who God intended. Instead, my prayers centered around Him leading us to a doctor that could give Bricen all the medical support he needed. Dr. Koenig was, and remains, the answer to that prayer.

Over a year of testing to determine if there was an underlaying cause of the mitochondrial dysfunction, and four visits later, he has been dx with Primary Mitochondrial Disease/Disorder/Dysfunction. After reading how we got to this point, it was no surprise when the dx was made. I pushed and fought to get him to Houston.  Once again, don't get me wrong. Derek and Brandalyn, upon realizing Bricen's issues weren't going to disappear, jumped on the specialist band wagon and ensured his needs were met.

So why am I crying as I type this post...why can't I sleep or eat.  It's simply - Bricen has a progressive disease that can be fatal. I thought myself prepared to hear the dx, but I was wrong.

We received a protocol letter for his doctors and ER visits. Copies of the letter are to be given to anyone or any place where Bricen frequents. This letter is about my grandson - here's one part:
"There is no specific therapy for mitochondrial disease and the disease is often, but not always, fatal".

There is a cute picture of Bricen on the letter, along with the sentence:
"Although some children live into adulthood, a high level of continuing medical care is usually required".

The little boy that lights up my life is described as:
"...decreased tolerance to minor illnesses and fasting state and are prone to rapid decompensation. Any change in Bricen's condition should be taken very seriously as he can quickly become fatally ill."

Another paragraph about my blue eyed, giggling grandson states:
"Symptoms become severe during ordinary infections, with exercise (exertion),with stress, or even with heat. Any of these conditions may precipitate a "mitochondrial crisis". During a "crisis", the individual organ systems begin failing one at a time. A crisis can develop as slowly as over severely weeks or as rapidly as over several hours and any person with a mitochondrial disorder may go from talking and walking to intubated in the ICU within a very brief time period. Very few individuals survive a mitochondrial crisis, but with early intervention and supportive care, it is possible".

Intellectually, I knew everything in the letter; however, seeing MY grandson's name all over the letter, seeing HIS silly little grin besides such words as "fatal" and "rapid decompensation"; emotionally it's almost more than I can handle.

My heart is broken for Derek, Brandalyn and most of all my precious grandson.

I know mito isn't an automatic death sentence and know his parents will move heaven and earth to keep Bricen healthy. It's the fear of the unknown, of the "what if's" that have taken my breath away. I know tomorrow it will be easier, but for today, I'm filled with grief

Mito and the Eyes

2011-09-20T19:49:00.001-05:00

We never think about our eyes, at least I don't. I get up in the morning, pop on my glasses, and am good to go. I've never stopped to think about the energy they require - why would I? My eyes aren't 20/20, but they serve me well.

When you first see Bricen, you can help but notice his baby blues.

But behind those incredible eyes, mito has wreaked havoc. His eyes have been without energy resulting in optic nerve atrophy. He is visually impaired to the point where he is considered legally blind.

In addition to vision loss, the atrophy has caused Bricen's eyes to be highly sensitive to light. On bad days, he wears sunglasses inside. At school, his classroom has special light covers to enable him to be sunglass free.

Any of you that have followed Bricen's blog have noticed his sunglasses. Yes, he is fashion forward, but they are needed to allow him to go outside without having to keep his eyes squeezed shut.

Bricen's hearing isn't affected; he identifies many objects (and people) based on sound. However, hearing loss isn't uncommon in children with mito.

Mitochondria are a cell's power plants, creating 90% of the energy your body needs. Three systems have to be affected for a mitochondrial dysfunction/disease to be diagnosed.

Mito and Neuro

2011-09-19T22:49:00.000-05:00

Our gray matter, otherwise know as the brain, needs energy to work. To receive and send all parts of the body messages....really, it's a miracle.

At one point, it was thought all persons with a mitochondrial dysfunction had brain involvement. The opinion has changed, as more children are diagnosed with no cognitive delays.

In Bricen's case, his brain is affected. He is cognitive delayed; at the age of five, he operators at about a 2 1/2 - 3 year old level.

In addition, he suffers from generalized absent seizures. The seizures raged out of control this summer; at one time he was on three different medicines at once.

Seizure meds taken twice a day

He learned at an early age to give himself meds - he thought it fun

Every 30 minutes a child is born that will develop a mitochondrial dysfunction by the age of ten. The number of children dying from mito equals to or is more than die from childhood cancer.

Mito and Muscles

2011-09-18T17:41:00.000-05:00

A mitochondrial dysfunction inhibits the body's ability to convert food into energy. Think of the body as a battery operated remote control car. With fully charged batteries, the car zooms right along, following the operators' every command. As the batteries wind down, the car becomes sluggish, and is slow to respond to the operator's directions. When the batteries are fully discharged the car totally shuts down or crashes. This is mito's effects on the body. The body runs out of energy and is slow to respond to the operator's (person's) commands - body systems run the risk of shutting down or crashing. Body systems using the most energy can be at greater risk.

To perform at peak performance, muscles need a tremendous amount of energy; energy that may not be available in a person with mito. This is the case with Bricen. He suffers from both low muscle tone and muscle weakness.

Bricen's low muscle tone cause his feet to pronate: he walks on the inside of his feet.

Bricen didn't sit up unsupported until past the age of one. His first steps were taken two weeks before his second birthday; however, he was two and a half before he truly walked. The low tone/weakness combination causes Bricen to easily lose his balance; he's fallen hundreds of times.

At the age of five (in two weeks), Bricen isn't able to go down steps without holding onto something for support. He still goes down steps one at a time, catching his balance between steps.

Bricen's muscles fatigue, causing him to:

Crawl,

Lay down and play,

Or, crash

THERE IS NO CURE FOR MITO....the best offered to the adults and children with a mitochondrial dysfunction is to treat the body systems as they become involved. Mito is progressive; if medical intervention isn't successful, death can occur.

Mitochondrial Disease Awareness Week September 18th - 24th

2011-09-17T13:57:00.000-05:00

Tomorrow, September 18th, marks the beginning of Mitochondrial Disease Awareness Week. During this week, all posts will relate to how mito affects Bricen, along with facts about this disease.

Also, if you are on facebook, please change your profile picture to reflect support of the many children and adults battling mito. The goal is to "turn facebook green for a week".

Feel free to use the above for you profile picture.

Yard Dude (part 2)

2011-09-14T13:50:00.000-05:00

Bricen's responsibility didn't end with "cutting" the grass; no sir, his day had just begun. Next on the list was watering flowers.

Gardening is hard work, but at the end of the day, it's nice to stop and smell the roses (not that these are roses) and know it's a job well done.

Yard Dude (part 1)

2011-09-13T19:45:00.000-05:00

I'm a firm believer in children learning responsibility at a young age, and in spite of mito, Bricen is no exception. Some may think him to young to be put to work in the yard, but not I!!!

Now, I'm sure some of you think I'm cruel and unreasonable, but he missed a spot and had to repeat a couple of strips.

Finally, with his chore complete, he was able to take a breather

Return tomorrow for more ~~child labor~~ pictures of Bricen.

Out Foxed (A kiss goodnight)

2011-09-11T15:50:00.000-05:00

Friday night GG, Bricen's great-grandmother spent the night with us. Bricen was super excited, walking around saying "GG spending the night with me". He bought his toys to her, where sitting beside her on the couch, they played into the night (okay, only until 8:30, but that's into the night for Bricen).

Saturday evening, GG went next door to spend the night with my sister. Bricen was fine until it was time to get ready for bed. He refused to brush his teeth or put on his PJ's until he went over Sheri's to kiss GG goodnight.

He's quite the sneak, because as soon as he walked into Sheri's, he announced "I'm not going to kiss GG goodnight, I'm going to play with Kaelin"....mmm, I believe I was out foxed!!!

Kaelin and Bricen enjoyed playing with a long length of ribbon (really, children will play with anything).

Then to further delay leaving, he decided to make a fashion statement in Kaelin's pink flip flops.

Running out of excuses and tired, he finally gave GG her goodnight kiss. Good thing GG doesn't get on the computer; she'd have a fit that Gram posted this picture of her in her gown with no makeup!!

Pictures of Honor for an Honorable Soldier

2011-09-10T21:59:00.000-05:00

I feel these pictures of Papaw's burial service were fitting for the eve of 9/11. He loved the United States of America; so much that he gave over 22 years of his life to her. Because of his devotion and rank, he earned the highest military burial honors (outside of fallen soldiers).

The service was held in the "round house" at Middle Tennessee Veterans Cemetery. The "round house" is a round structure encased in glass, perched on top of a hill, giving a 360 degree view of the grounds. The burial service itself was attended only by close family. It was a rainy, chilly day, which matched our mood.
Note: some of the outside pictures appear blurry, but it's actual the misting rain.

Meet Paws - Bricen's early birthday present.

2011-09-08T22:09:00.000-05:00

Bricen loves dogs of all sizes, colors and shapes. So, as an early birthday present, Bricen got his very own puppy!! Bricen picked Paws all by himself from the litter of four puppies. He's thrilled with the little ball of fur.

Just look at the smile on his face!!

It's a toy Poodle/Pomerania mix and really is a little cutie. Him and Bricen make one handsome pair!!

Bricen trying to get Paws to "walk faster". With two inch legs, Paws going as fast as he can!!

One thing is for certain, this dog will be used to children....whether he wants to be or not.

Gentle, Bricen, gentle

Enjoy Bricen - here's to many happy years for you and Paws

A final goodbye

2011-09-06T21:16:00.000-05:00

Today Papaw was buried at Middle TN Veterans Cemetery with full military honors. His casket was carried by the honor guard, who also gave him a 21 gun salute, played taps and presented the flag from his casket to GG (Bricen's great-grandmother). Pictures were taken by the funeral home and I'll post a few later in the week.

The ceremony was touching and fitting for a man who loved his country enough to serve over 20 years in service to her. His tombstone will read "A Family Man & A Patriot" - these words along with the cross on top, sum up Papaw. His love for God, his family and his country.

Bricen kissing Papaw's flag

Tired after the ceremony, Bricen decided crawling better suited him

Only at a military cemetery, would one find a box of tissues marked "State Property"...at least they didn't ration the number one could use!!

Lazy Day

2011-09-05T23:15:00.000-05:00

Today was rainy and cold. Well, 62 may not be cold, but considering the heat index was 101 two days ago, it felt chilly.

Yesterday was Dad's funeral service and tomorrow is the burial, so the family didn't want Mom to be alone. Last night she stayed with me; tonight she's next door at my sister's.

Bricen feels much better today. With today being a holiday and tomorrow being the burial, he'll only attend school 3 days this week. With him being under the weather, a short week is a good thing!!!

Butterflies from the heart

2011-09-04T23:23:00.000-05:00

Today was Bricen's Papaws funeral service. It was so sweet seeing Bricen talking to Papaw for the last time...telling Papaw he loved him. Bricen didn't understand what was actually going on, but he knows he loves his Papaw and his Papaw loves him and that's all that matters.

My sister and her husband purchased a butterfly and wrote all the great-grandchildrens names on it. The butterfly "flew" over the open casket during viewing. Before the casket was closed, I placed the butterfly over my dad's heart. He loved his children, grandchildren and great-grandchildren with all his heart and it seemed a fitting place as Papaw goes to his final resting place on Tuesday.

Bricen has tonsillitis

2011-09-03T22:46:00.000-05:00

Bricen's mom had tonsillitis earlier this week; unfortunately, Bricen starting running a low grade fever this morning and his glands were swollen. Papaw's funeral viewing was today, but a trip to the ER with mom for antibiotics and laying around the house suited Bricen better.

I'm tired after spending most of the day on my feet, but I've committed myself to blogging everyday during the month of September so this short post will have to count for today.

Bricen's Great-grandfather passed

2011-09-02T21:00:00.000-05:00

Bricen's great-grandfather, Papaw, passed September 1st. Papaw loved Bricen more than words can say and Bricen loved him.

Papaw was broken hearted with Bricen's mito diagnose. He knew his time on this earth was coming to an end, but he'd lived almost 83 years - years filled with fantastic memories and no regrets. He wanted the same for Bricen and prayed it was God's plan to grant him those years.
I want to relate a personal story of God's love:

Monday as we waited for my father to pass, I made a quick run to an area fast food drive in. I ordered food, got the dollar total and pulled up to the payment window. The attendant said, with a large smile on her face, that I didn't owe anything. Confused I said "I just placed an order and I indeed owe money". Still smiling she said the man in front of me had paid for my ordered. Even more confused, I said there had to be a mistake, I didn't know the man and he didn't know me. She said the man told her to tell me "I'm from a local church and want to say "God is with you" and "God blesses you". Sobbing, I felt a peace settle over me. I never doubted God's love for me, and it was confirmed today though the voice and actions of a total stranger. What a powerful message from Him when I needed it the most.

Bricen loves you Papaw. We know you're watching over him as his own special angel, and he'll always feel your love.

A Rough Summer

2011-08-25T14:29:00.000-05:00

I haven't posted in so long. This summer has been a roller coaster of emotions. My dad has been warring with lung diseases, from smoking, for years and has spent most of the spring and summer in the final battle. He spent 8 weeks in the hospital on a vent and I've spent hundreds of hours at his bed side, as did my brothers and sisters. On four different occasionals, the doctors prepared us for his passing, but he overcame the odds and pulled though. Now at home on Hospice, he's stable, but we know his condition can change at any time.

This summer also proved to be unkind to Bricen. His seizures raged out of control. Keppra was increased to 5.5 ml twice a day and 100 mg Topamax twice a day was added into the mix, all to no avail.  Seizures lasting 15 - 20 seconds continued all day long.  Two weeks ago, the Topamax was replaced with Lamictal and he's almost seizure free!!!

His spinal MRI came back normal. Dr. Koenig herself call Bricen's mom, and based on his normal MRI and other findings in his last labs, she wants to "further investigate and revisit mitochondrial disease".  She scheduled Bricen for the next available appointment, so we head back to Houston next month (September 27th). We feel sure Bricen will be diagnosed with primary mitochondrial disease since all secondary issues she thought may be causing his mitochondrial dysfunction have been ruled out.

Bricen has lost the ability to say his ABC's, his shapes and other minor (but huge) things.  We're hoping it's because of the seizures and not a regression. He's also regressed in potty training and is back in pull ups full time. This is normal with his seizures, however, he was having trouble prior to his seizure activity, so we'll bring it up with Dr. Koenig. He also plays "doggie" all the time, crawling up to 50% of the day during the summer, acting like a dog.  Once again, we're hoping it's a phase instead of muscle weakness.

In spite of everything, Bricen continues to be the same laughing, loving little boy we all know and love.

With dad home, I plan to do at least a weekly blog....I've missed you guys!!

Dad in the hospital on the vent, reaching out to give Bricen a hug.

Houston Doctor Trip Update

2011-04-25T21:08:00.002-05:00

I had to do some researching and collect my thoughts before posting about our Houston trip.

To recap the events leading up to the trip, Bricen had an unsedated EMG at Vanderbilt deemed "normal". However, Dr. K and Dr. M (in Houston) felt parts of the EMG that didn't register may not be "technical difficulty" (caused by a screaming, thrashing child), but due to underlaying issues. So, a sedated EMG was scheduled in Houston at Memorial Herman.

Bricen's sedated EMG was done Tuesday and was normal in the muscle portion. However, the EMG on the nerve portion was abnormal. The nerve signal is traveling from his brain to his hands and feet (the extremities tested), but it didn't "bounce back" or return properly.  Dr. M said he thought the problem was in the spinal column and would be secondary to a mito dysfunction. He planned on calling Dr. K and discussing the results prior to our Wednesday appointment.

Bricen's parents and I were nervous going into the appointment. Dr. K had told us on our last visit, Bricen met the criteria for mitochondrial disease; however, she wanted to wait until his repeat EMG before giving a firm DX. Based on Dr. M stating the issues on the EMG would be secondary to mito, we felt this may the appointment we were told "it's mito".

The meeting started with Dr. K saying she and Dr. M had discussed Bricen at length and both had researched his case. She questioned the pregnancy in detail and determined there was a high probability Bricen's mother suffered a seizure causing disruption to Bricen's blood and oxygen flow. The restriction caused damage to his brain and nerves in his eyes and spinal column. The labs and muscle bx results showing mitochondrial dysfunction was actually due to STRESS not dysfunction.  The nerve damage causes weak muscles and his body has to produce additional energy to compensate. However, stressed mitochondrial, caused by such an injury, are NOT PROGRESSIVE. All of his "mito" type symptoms can be explained by overworked muscles.
No other body systems would become affected and although there still isn't a treatment or a cure, Bricen would never get any worse!!!! As a matter of fact, as he gets older, he'll learned to compensate in other ways to help deal with his disabilities.

The new theory will be proved/disproved by an MRI of Bricen's spinal column.

Two years ago, if a doctor had mentioned damage to Bricen's spinal column, tears would have freely flowed from all of us. Here we are now, hoping for an abnormal MRI. Don't get me wrong, we would gladly give anything for a healthy, "typical" little boy. But, that's not in God's plans.  So, we wait for the MRI to see the path God has chosen for us to follow. We want the one where Bricen's future looks bright and not medically involved, but as always, we know God's hand will guide us forward no matter the direction he choses for Bricen.

We are filled with hope!!!

Houston Bound Again!!!!

2011-04-18T01:07:00.000-05:00

In the morning, we'll be boarding the plane once again, to see Dr. Koenig in Houston!! Bricen is excited; he loves flying and staying in the hotel.
He has a sedated EMG Tuesday morning. We're praying he doesn't have the same reaction as the muscle bx - he was a total mess coming out of surgery.
We see Dr. K Wednesday, but we don't an appointment time yet. That's right...we're travel halfway across the country to see a Doctor without an appointment!! Well, not really. Her office is closed Wednesday, but she's going to see Bricen so we won't have to stay until Friday. That's super nice of her, but her office hasn't given us a time yet, so I'm a little (read very) nervous. We get in early Monday, so I think I'll pop in her office during the afternoon to make sure nothing (meaning Bricen) is overlooked.
On a exciting note, several of us from my favorite board, P2P, are trying to meet for lunch Wednesday. I can't wait to see these people "in real life"; I've followed their journeys for several years and feel like we all just one big family. It's comforting to have people in your life that "get it".
I'll update after we get back.
Note: it's 1:00 in the morning and I have to get up in 3 hours to order to catch to plane, so please excuse this rambling post if it doesn't make sense!!!

Taming the bushes (and Grumpy)

2011-04-11T11:28:00.000-05:00

Disclaimer: I know children aren't suppose to play with sharp objects, but it's okay to work with them, right???

In an attempt to whack our bushes back into submission, Grumpy grabbed a pair of shears and headed outside. My job was to stand back and guide him into where to clip to ensure a (somewhat) uniform shape. However, Bricen soon took over, telling Grumpy "about one inch", "do the bottom" and "to the right" (repeating instructions I'd given). It was a hoot!!

Sure he could do a better, Bricen grabbed a pair of clippers and joined Grumpy.

Together, the bushes were trimmed in record time and never looked better!!! On a totally different topic, Bricen wanted me to take a picture of his skinned knee...guess he wanted to ensure everyone shared his pain!!

Getting his handsome on!!

2011-04-08T14:15:00.000-05:00

As you with only boys know, it's hard to dress the little dudes ~~cute~~ handsome. With two boys of my own, then Bricen as my only grandchild, I walk down the numerous aisles of little girl clothes and accessories, marveling at the wide array of styles, colors and fabric, knowing I can only look.
Sadly, I make my way to the one or two piddly aisles of boy clothes, with the choice of vertical or horizon stripes. Well okay, there's slightly more variation that just stripes, but not by much!!!
Then I discovered Crazy 8, and I'm in heaven!!! Now, I can add peace signs, skulls and funky slogans.
Below are the shoes I've purchased. Don't worry, his main shoes are study Stide-Rite, but man, I'm sure having fun buying shoes, shorts and shirts....who needs pink?!?!?!?

Bricen's Warriors Fought Today!!!!

2011-04-02T23:04:00.000-05:00

We were fierce, determined and took no prisoners. Five hundred and thirty people showed up for the battle.........the battle against mito!!!!! Some people called it the 1st Annual Middle Tennessee UMDF chapter "Energy for Life" walkathon, but it was truly a battle for finding treatments and a cure for all those affected by mitochondrial disease.

Twenty six warriors surrounded Bricen

Uncle Dalen and friends volunteered the music to get the crowd "fired up" (aka the DJ's)

Grumpy volunteered making sure everyone stayed safe (he's a policemen)!!! There was a lot to keep safe - the battle raised $70,000 dollars!!!!!

Of course, Mommy and Daddy lead the charge

Gramme was right beside them with our new friend, Skye

Bricen's teacher and a friend from school joined in

Family and friends completed Bricen's lean, mean fighting machines!!

Bricen did his part, mounted on his trusty stead

These children may look harmless, but they defended Bricen by melting the hearts of all enemies in their path

There was strategy planning during the battle

It was hard fought, but we were victorious!!

Did you catch the numbers??? On Middle Tennessee's 1st Annual UMDF Energy for Life Walk, 530 walkers raised a little over $70,000!!!!

I want to once again, personally thank, all my family and friends that joined together to make this a success for Bricen and the fight against mito. Some personally came and walked/donated, some donated and others offered prayers. All of you are the true hope behind finding a cure!!! I love each and everyone of you and am blessed to have you in my life.

Just a Typical Morning, Right?????

2011-03-26T20:58:00.001-05:00

Below are photos depicting a scene played out in millions of homes across America this morning...a little boy, sitting at the breakfast table on a Saturday morning, eating cereal while cartoons blast in the back ground.

However, typical this scene may appear, it represents a huge milestone for Bricen. A combination of his low vision, low muscle tone and muscle weakness, has made it impossible for Bricen to feed himself. Over the last few weeks, he's mastered a few things; eating French fries and waffles with a fork. This morning marked the first time he was able to feed himself cereal!!! I sat in a chair beside him with tears in my eyes. His inability to feed himself with utensils (he's been able to feed himself finger foods for a several years) has weighted heavy on my mind and heart. I was afraid other children would make fun of his teacher having to feed him next year. But, ever the fighter, Bricen has overcame another hurdle placed in his path. He got tired after about 8 bites and asked me to feed him, but with practice he'll gain strength. I'm so proud of him and thank God for this milestone!!!

Back from the great beyond

2011-03-17T21:37:00.001-05:00

I really haven't been anywhere but wrapped up in my thoughts. I'm been in weird reflective moods and although I followed all the blogs and little ones that have come to mean so much to me, I rarely posted or responded for the past month.

The mito community is filled with heartache for the children that have earned their angel wings and others that are struggling,even as I type, fighting mito with everything they have.

This winter has been rough on Bricen with ongoing sickness; nothing too serious, just overly fatigued and feeling under the weather. I know we're blessed that his struggles have been nothing compared to the above mentioned little ones, but that fact doesn't make watching Bricen walk around with dark circles under his eyes, looking like he's ready to fall over from fatigue.

He had a sleep study this week with results due back in about a month. Watching the monitor, his oxygen levels appeared to remain high though the night; however, this is one of many components reviewed in the study, so we'll wait for the report. A part of me hopes he has treatable sleep apnea and the treatment will give him a much needed energy boost.

So, my self imposed exile has ended!!!!

Headed to Houston Again!!!

2011-02-03T20:35:00.000-06:00

Bricen's repeat EMG was approved yesterday. This EMG will be done under sedation. We were afraid insurance would put up a fuss based on Vanderbilt's "normal" test, but the Houston request flew though without any problems!!
Bricen's ped nurse was questioned by insurance about the continued need to see Dr. Koenig, the mito specialist and mentioned a doctor in Memphis. After looking her up, we noted her specialty was Autism; she had no training or connection to the "mito" world. Once again, we were prepared to fight, but insurance approved the visit without any further ado.
Bricen's EMG is scheduled in Houston at Hermann Memorial on Tuesday, April 19th. His appointment with Dr. Koenig will be the following day. She doesn't see patients on Wednesday; however, she's making an exception for Bricen and one other child. Wow, I just love Dr. K more and more...what a blessing to have her in our corner!!!!
To sweeten the pot, I got air line tickets on South West for $64 one way. The grand total was only $144.00!!! I normally pay at least $300, so this was a deal!!

Batter up.....

2011-01-31T16:03:00.000-06:00

Staring in April, Bricen will be playing t-ball!!!! The great town of Smyrna has a special needs program geared toward ensuring children with disabilities have the same life experiences as "typical" children. Not only do they offer t-ball, but swimming, fishing and scouts are other programs Bricen might enjoy. The programs let the child be involved at their own level. So, if Bricen get too hot or tired, he can sit down to rest or leave!!!
We're SO excited for Bricen. These programs offer him a chance to enjoy actives, that we as parents (or grandparents), took for granted before starting down this long, winding road....it's a true blessing when we get a much needed, uplifting detour!!!!!

What do you do....

2011-01-19T12:27:00.000-06:00

with a little boy who still isn't up to going to school, but feels well enough to get bored?

"You won't like me when I'm bored"

Following are a two options:

Build a fort. The first day, Bricen was scared and cried for me to take it down. The second day, he agreed it was pretty cool. Luckily it was big enough for both of us to play inside.

Practice personal hygiene. It doesn't have to be on a humane - any old Bigfoot monster will do the trick.

Bricen would have missed 8 days from school had school not been closed from snow and MLK day. He's in preschool now, so the only things he missed is therapy. We're really praying for health when he starts "real" school. Eight days in a row (from the common cold) would be a problem!!!

ER yesterday...a little better today

2011-01-10T15:54:00.000-06:00

Yesterday Bricen awoke with a fever of 101. I gave him a dose of Motrin then waited about 1/2 hour and gave his morning meds. He started vomiting and was unable to hold down any of his meds. The importance of not missing a dose of the seizure medicine, combined with the predicated snow storm, brought us to the decision the best course of action was to head to the ER.
So off to Vanderbilt Children's we headed. A quick call to his ped ensured Bricen go immediately back upon our arrival.
During the ride, the Mortin kicked in and by the time we got to the hospital, Bricen was talking and laughing with no fever. He looked the picture of health, and I was a little embarrassed!!! However, he was still refusing to eat or drink anything and the team (at least to our face) said we made the right choice in bringing him in if he couldn't hold down his Keppra.
Bricen was quickly bored in the little room and tried to find things to past the time while refusing all offers of drink.

After a couple of hours of Bricen refusing drinks, he was given Zofran and, poof, he started drinking!!! A couple of hours later, he held down his seizure medicine and was set on his way with two premeasured doses of Zofran and a Zofran prescription. The comfort that comes with having Zofran on hand is welcomed; it would have prevented todays' ER visit.

Today, he's back to running a low grade fever, but is eating small amounts, drinking and taking his meds, so we're not worried. His stomach seems to have settled, but at the first sign of trouble, we'll bring out the Zofran!!

Snow Number 4 and more on the way!!!

2011-01-08T21:24:00.001-06:00

Here in the Nashville area, we aren't use to snow. Normally, we get one dusting of snow a year, if we're lucky (or unlucky, depending how you look at it).

We don't close schools after seeing the white stuff falling, we close school at the mere CHANCE of snow. That's right folks, we'll nail the school doors shut just because 1/2" is predicated!!! So, imagine the state we're in with our 4th snow of the fall/winter season on the ground with more on the way tomorrow night.

The highway department has ran out of road deicer and emergency funds are being sought to purchase more. The groceries are discouraged, because in the past, the mention of snow had groves of people running to the store, wiping out bread and milk supplies. But, snow has become so commonplace this year, everyone has lost their "panic" button. Don't get me wrong, we still can't drive in the stuff and you'll more than likely end up in an unintentional game of bumper cars if you venture out, but we're becoming bolder.

No one is more ready for the snow to be over than Bricen. He doesn't like the snow, period. No matter how we try to talk up the joys of snowmen, snowball fights and snow angels, Bricen wants no part of it. He'll go outside, under protest, only to say "want to go back in the house?" within 1 - 2 minutes of being out. He was saying just that in the picture below...

I really can't believe she'd drag me out in this weather just for a photo op

Maybe if I smile, she'll come to her senses and we'll go inside.

The smile worked and after these three shots, we retreated into the warmth of the house, much to Bricen's delight!!!

Raging Reflux

2011-01-05T20:26:00.000-06:00

Poor Bricen, we can't get his reflux under control. In the past two weeks, his reflux medicine (Zantac) amount has almost doubled, but to no avail. He's having reflux throughout the day and, we're sure, at night. In addition, his appetite is worse than normal, causing us to wonder if irritation and pain from reflux is playing a part in his lack of eating. Of course, Bricen's eating habits have always left something to be desired, but if it hurts to swallow, it stands to reason, he'd not want to eat.
So far, all conversions with his ped have been by phone, but a visit to his office may now be in order. There are many reflux meds on the market; we feel confident we can find the one(s) that works best for him.

On our recent trip to Houston, we noted Bricen seemed to "catch" his breath during his sleep. He's always snored but the added loud snorting sounds are a new development. To ensure Bricen doesn't suffer from sleep apnea or a sleep disorder, we've asked his ped to set up a sleep study; hopefully, we'll have the results prior to our follow up appointment with Dr. K in Houston.

Below are a couple of pictures of Bricen and Addy. They were "cooking" and to ensure their dishes were up to par, they fed the other one bites for a taste test!!!

Ring in 2011!!!!

2011-01-01T00:58:00.000-06:00

As this year draws to a close, thoughts of Bricen, as always, fill my mind.   He's came so far this year; walking and talking better. He's potty trained and learning new things every single day His personality is shining though and with it a wacky little sense of humor.

The year has been filled with a journey towards finding that ever elusive diagnosise. The mixed bag of results from the muscle bx started 2010. Some of the testing pointed to a mitochondrial dysfunction, other parts were inconclusive. Bricen's testing continued though out the year, with a EEG, EKG, EMG and ECHO, along with tons of blood work. The highlight of the testing was discovering no heart involvement; the low point was discovering Vandy had blotched the EMG and it will have to be repeated.

The search twice took us to Houston, TX to see Dr. Koenig, a renowned mito specialist.  At the last visit, we found out Bricen does indeed have a mitochondrial dysfunction, but it's unclear whether it's primary or secondary to an unknown factor....so more testing is underway and this year will find us once (or twice) more on a plane to Texas.

Medically, the hardest thing to watch this year were the seizures. By the time Bricen had his EEG, the seizures numbered 150+ a day and were causing Bricen to lose his balance and control of his bladder. Praise God, the Keppra has proved to be a miracle drug and the seizures are totally controlled!!!

Although Bricen fatigues easily and struggles to recovery from illness, he's a remarkably healthy little boy.  For that, we thank God everyday.

Would I like a DX in 2011???  You bet. But most of all, I pray, Bricen continues to be happy and healthy....and I pray that the New Year brings the same to you and your love ones.

Belated Christmas Festivities (not the festivities, the post)

2010-12-30T22:42:00.000-06:00

Note: I was so busy following Christmas and then got a nasty stomach bug. I promise we celebrated Christmas and here's the pictures to prove it!!!

We awoke to a picture perfect day....a rare white Christmas!!!

The family gathered to share our blessings and lots of good food!! When I told Bricen it was time to eat, he was sitting in his room playing. He looked up, said "Bricen's all done eating" and went back to playing. True to his word, he only ate about 2 bites. The rest of the time he played and visited!!!!

The children all loved the gifts and the adults loved the feeling one gets when surrounded by those you love.

We are a silly lot, with an penchant, it would seem, for flipping our children on their heads!!!

Even the barking marshmallow made a break though the gate and joined us. Poor Lindsey wasn't so lucky!!

As is often the case, Bricen ran out of steam and layed on the floor quietly playing with one of his toys. But, he enjoyed the time with family and friends; we all did!!!!

Shopping - a true adventure

2010-12-22T11:05:00.000-06:00

Bricen loves to shop; one of his first word combinations was "go shopping". So, this Christmas season, he's in his element. Since he's a rowdy, independent four year old, he enjoys the shopping ventures a little more then I, but I try to look at each trip as, hmmmmm...an adventure.
Monday's shopping trip lived up to "Bricen's Way" of shopping. I'd recently learned of a large discount store, so true to my cheapskate nature, I made a beeline to check it out. The store buys returns, open box items and discontinued items from different retail chains, so the inventory constantly changes. The items are arranged in rag tag fashion with haphazardly taped dirty boxes . Their dismal, cluttered arrangement, combined with poor lighting, gives one the impression of a dungeon. I was turning around to leave (run away), when there, high on a shelve, were a pair of small red plastic chairs. I'd been in the market for a pair since purchasing new patio furniture last fall. I wanted a cheap set that Bricen and Kaelin could sit in, move around and general abuse without me having to worry about them tearing up expensive furntiture. At only $3.99 a piece, this set filled the ticket!!! A few minutes later, we emerged from the dungeon of misfit junk, with our loot.
It was love at first sight for Bricen. He wanted to load them in the car "by myself" and 5 minutes later, he had proudly placed them beside his car seat. He then climbed on the stack of two chairs, saying "Bricen ride on new chairs". I informed him he couldn't ride on the chairs, he had to ride in his car seat. He said "no, Bricen ride in car CHAIRS".

Bricen is all about seat belts. He rides a bus to school and it's policy the bus doesn't move until all children are buckled up. Luckily, once he discovered his seating choice offered no seat belts, he descended from his make shift throne to his car seat and the chairs were moved to the trunk. The excursion proved to be a tiring event; after donning a pair of my gloves, he quickly fell asleep.

I'm sure he was dreaming of our next shopping trip and how to ensure he'd turn it into an adventure!!!

One of these things is not like the other....

2010-12-15T17:22:00.000-06:00

One of these things just doesn't belong....

I took this picture before I ran Ms. Betty away from her new found friends. It has nothing to do with Bricen, but I thought it was cute (not that a cat on my kitchen table is THAT cute).

Houston Trip - One Step Closer

2010-12-09T21:30:00.000-06:00

To get all my thoughts in line, I'm going to break this down in sections:

The Mistakes
During our visit to Dr. Koenig in July, she wanted an EMG to rule out Muscle Eye Brain Disease. To keep from a possible fight with insurance, the decision was made to have the EMG at Vanderbilt. We requested Bricen be sedated for his EMG, but were told Vanderbilt never sedates, even if the child is special needs. So, we proceeded with a non-sedated EMG. During the procedure, Bricen had to be restrained, but it's hard to hold a bucking four year old still.  Several times, the technician and doctor commented that they couldn't get readings due to his movement.  We asked if the tests would still be valid and the reply was "yes".
The neuromuscular doctor came in immediately following the EMG, saying the test was normal.  The written report sent to Bricen's ped, also noted a normal EMG.
However, written in the fine print, was a note "no nerve activity was noted on the calf". This was quickly picked up by Dr. Koenig. How was it normal??? If the lack of nerve activity was caused by Bricen's movement, the report should have noted it. Vandy's first mistake was not sedating Bricen; the second was in the written report.  Dr. K threw out Vandy's EMG, so a second EMG is to be scheduled, in Houston, where he will be sedated. The date will be in approximately three months.

The Visit
The mito clinic is associated with the University of Texas; therefore, it's a teaching clinic. Dr. Koenig entered the room with the customary gaggle of residents and interns. After Bricen showed off his mad skills at walking, running and laying on the floor, we got down to the serious stuff. Dr. Koenig starting the meeting with the EMG results (above) and said based on the findings she couldn't rule out Muscle Eye Brain Disease. So, she's doing a DNA test to rule it out and if the test is positive, we won't have to do a repeat EMG. If the test is negative, the EMG is on.
She went on to say, based on his labs, muscle biopsy and clinical presentation, she could diagnose him with primary Mitochondrial Disease by the Walker Criteria. However, she never takes that step unless all stones have been turned in looking for other primary causes. Bricen has a mitochondrial dysfunction; it's now a matter of whether it's primary or secondary to an unknown factor. We return in three months. At that visit the results of the upcoming DNA and EMG will determine if she will diagnose him with primary Mitochondrial Disease or continue to search for a primary cause and list his as secondary mitochondrial.
I'm a bundle of nerves and raw emotion. This journey for a DX has been so long and rough....to think we may be close to the end....even if it ends in a place we never wanted to be, it will be over. I thank God we found Dr. Koenig and that she'll help us as we move to the next part of Bricen's journey.

The Trip
Bricen was born to travel. I meant it, he's a natural.

I know where I'm going...to Houston!!

Can you walk a little faster????

Bricen has NEVER cried on a plane (except when his ears hurt during landing). Our fellow passengers always comment on how well he does (much to their relief as they watch a small child sit down next to them)!!!

He loved the Christmas display at the hospital...it almost made up for the fact he had to give blood.

After the medical stuff, we breezed over to the park, where Bricen enjoyed a "big boy" swing.

As an added bonus, the first Tuesday of every month, admittance into the Houston zoo is free!!! After enjoying the park we walked over and enjoyed the zoo!!

Flowers in December!!!

Whoa, that thing is big!!

Hmmm, why is a dog at the zoo???

Yep, the dogs in Houston have hineys too (I'm not kidding, Bricen actually said "dog has hiney"!!

Brushing the dog (he would never believe they were goats). He kept saying "dogs not barking"!!

Checking out the giraffes...he knew they weren't dogs!!!

As the sun dropped, so did the temperature. Bricen loves his Special Tomato (aka "big boy") stroller!!

One tired little boy after a full day

To see Bricen laughing, playing and enjoying every minute made the news given by Dr. Koenig easier. He laughed before the visit, during the visit and after the visit. It reminds me again how this blog got it's name. He truly does live life Bricen's Way. He's kind and loving, with a zest for life, and all it has to offer. Often times, I think this world would be a better place, if we all, to some degree, lived Bricen's Way.

Oh, what fun it is to ride in a one horse open sleigh...

2010-12-04T21:44:00.000-06:00

HEY!!!! That's what Bricen and I did today!!!! Okay, the horse was on a paved road instead of snow, the sleigh was really a wagon made to look like a sleigh and it was 50+ degrees, but let's not get bogged down in details. To a four year old boy and his Gramme, it held all the magic of the "real" thing!!!

At the end of the ride, Bricen told "Ranger", thank you.

Great day, great memories!!!!

Happy Thanksgiving

2010-11-25T23:45:00.000-06:00

My dad is inpatient, so we grabbed a quick bite at Cracker Barrel. Bricen loves Cracker Barrel; it's his favorite place to eat. In addition to good ole country cooking, it boasts a large selection of quirky toys. Bricen always chooses a couple to bring to the table to while away the time as we wait for the food to arrive. And since his eating consist of only about 10 bites of food, it's a plus for us as well!!!!

Daddy joins in the fun and games

Max Smart used a shoe as a phone, but Bricen's is hidden in his bread plate

Here dad, it's for you

After the feasting, the ever social Bricen found a friend and started a band!!

I have too many blessings to list; I hope you have as many. Happy Thanksgiving!!

Boring Blog

2010-11-18T10:22:00.000-06:00

Nothing much is going on, but at this time of year, that's a good thing!!!! Winter can be hard on Bricen, but so far, he's doing great. As a matter of fact, he's loving the cooler temps. Because of his heat intolerance, he now able to play for longer periods outside. We're also noticing he doesn't seem to get as cold as "normal". We'll wear a jacket to take him outside, but he'll refuse his jacket. After discussing it, we all decided to let him determine if he needed a jacket. He's old enough and aware of his body enough to know if he's cold. So, unless we feel it's really too cold, or he's just saying "no" because he likes saying "no", he's on his own in the outer wear garments!!
We're gearing up for Dr. Koeing appointment the first week of December.....ensuring Vandy's forwarded all the tests she ordered on his last appointment. The normal EMG ruled out one of the alternative DX, so I'm anxious to see what path we go down next.
See, just random boring stuff....but sometimes boring is best!!!!

He's feeling better!!!

2010-11-05T19:00:00.000-05:00

Bricen seems to have kicked what ever he had and is almost back to full throttle. Although, he's not 100%, he's walking instead of crawling, which is a huge relief. He's always returned to walking in the past, but we can't really relax until we see him up and about.

We were discussing our fear today of how a "real" illness might affect him. He may come though with flying colors or he may really struggle. It's a blessing he's never unwell, but at some point, odds are, he's going to get sick with a fever.

This will be one of the topics for discussion next month with Dr. K. It gives us a sense of peace knowing she's in our corner.

Shucks, he caught the "crud"

2010-11-04T09:42:00.001-05:00

His nose has been runny the past two days. No fever, but he's not feeling well. Today he had a "mini" crash.....he's crawling as often as he walks. It's heart breaking knowing something as little as a cold, without a fever, can have such a negative impact on him. There's no point taking him to the doctor; without a fever they won't do anything. We can't wait to see Dr. K next month and make sure the best action is no action. At times like this, it's scary not having a firm diagnose. A runny nose shouldn't cause a four year old to be too weak to walk.

It's so easy to tell yourself, when he's doing good, maybe "it" (whatever "it" may be) isn't too bad. Then, boom, he's so low energy there's no way to avoid the fact "it" isn't going anywhere and we need to find "it" so we can make sure he gets the best care.

Monday, I ordered a special needs push chair. For those of you not familiar, it's similar to an over sized stroller, but with special need options (insurance will pay for Derek's, but I wanted one for my house). I was second guessing myself, but after today, there's no doubt I made the right choice. I knew I had, but it's hard. Ordering the push chair, which should last him until he's 9 or 10, just brings home the fact his condition is long term. We knew that, but this is the first piece of solely special needs equipment we've had to buy.

EMG and NCS over!!!!

2010-10-26T18:03:00.000-05:00

Bricen screamed throughout both tests. It didn't matter if they were placing painless "stickers" or probes directly into his muscle.

The NCS portion (testing his nerves) was suppose to be relatively painless. You couldn't tell by Bricen's screams, but the technician assured us it was no worse than a shock you receive walking across carpet, then touching a door knob. Four readings were taken - two were normal, two were "technical error". The error was caused by Bricen's movement. One must be absolutely still for a good reading, and although we were holding Bricen tight, the readings were skewed. But, the two reading were enough for the test to be considered normal, so we moved to the EMG.

The NCS was performed by a technician; however, Dr. Burnett conducted the EMG. He was great!!! He told us before he started he expected the test to be normal. His educated guess proved right as the first probe was normal. He wanted one more probe to validate the test, so five minutes later, with a second normal reading, the testing was complete.

Dr. Burnett talked to us a few minutes after the test as Bricen tried to calm down in my lap. As Dr. B was leaving, he told Bricen bye. Still trying to catch his breath from crying Bricen responded "bye (sob) I (sob) love (sob) you (sob). Dr. B and his male assistance both smiled and melted just a bit before walking out the door. Bricen tends to have that effect on people!!!!

Now we just have to wait until our December appointment with Dr. Koenig to get her input on the normal EMG. In most cases a normal test is news to celebrate; however, in Bricen's case, a normal EMG just might bring him one step closer to a mito diagnosis because it takes a number of alternative diagnosis off the table. Guess we'll have to wait and see.

It's been an emotional day for all involved, but I'm SO glad to have it behind us. Thanks for your positive thoughts and prayers!!

His EMG is tomorrow

2010-10-25T16:28:00.000-05:00

and I'm filled with dread. He won't be sedated for the test, and while some parents have said they children made it though "okay", others have used words such as "torture" and "traumatic". Bricen screamed and had to be physically restrained while the EEG probes were placed a few months ago - and this was an entirely painless procedure. So, having a needle inserted numerous times into his muscles isn't going to be to an easy thing to watch. Is the test needed....absolutely. But, that doesn't lessen my fears for my little buddy. Please keep him in your thoughts and prayers tomorrow. I'll update in the evening.

Pumpking Patch - part 2

2010-10-21T09:05:00.001-05:00

The farm hosting the pumpkin patch, also had a tunnel, built with t-post, chicken wire and corn stalks. It was low to the ground and about 18' long.

Bricen wasn't sure if he wanted to go inside. He kept saying "Gramme go in tunnel", but let me tell you, this WASN'T Gramme sized!!

He finally worked up his courage and, with me encouraging him from the other end, he crawled though. He thought it was great fun, and spent the next ten minutes crawling back and forth.

He got bored crawling (or maybe his little knees were hurting), so he decided to walk. He was too tall, so I told him "No, you'll hurt you head". Never one to listen to the word "no", he bent down and slowly walked his way to the other end. I guess he was trying to stream line himself because he kept his arms behind him!!!

Two years ago we never knew if a day like this was possible....crawling, walking, talking, seeing his way around his enviroment, problem solving. I'm grateful for all of Bricen's accomplishments - God's blessings are plentiful!!!!

Pumpkins, Donkeys and more...

2010-10-19T14:54:00.000-05:00

Me: Where we going to go???
Bricen: The pumpkin patch!!!!
Me: What are we going to get????
Bricen: A PUMPKIN!!!!

I taught Bricen this little "song" (hey, I may live in Nashville, but that doesn't mean I'm a song writer) Saturday morning as we got ready to head to the pumpkin patch. At almost 80 degrees, it was hardly fall weather, but Bricen was excited!!! The pumpkin patch is actually a farm set up with different children activities.

He wasn't too sure about the donkeys, we never could get him to touch one. However, Ms. Judy was brave!!!

Next was a truck piled high with sweet potatoes. Within 5 minutes, an adventurous Bricen was asking me to put him in the truck with the sweet potatoes!!!!

There was a "kiddy" sized silo complete with corn. Bricen made a couple of friends and loved every minute. That night, when I took off his pants, they were full of kennels!!!!

After the corn, it was time for a hay ride to the pumpkin patch. We'd been at the farm for about an hour and Bricen was totally exhausted. When I told him we were going to get a pumpkin, he said "no, go get in Gramme's car". I knew Daddy was excited about carving a pumpkin with Bricen, so we climbed on the hay bale and away we went. His displeasure shows in the last picture with his three pumpkins. At this point, he was chanting, "go get Ms. Judy and go to Gramme's house".

Needless to say, we left after the hayride. Bricen was beyond tired, but I know he loved the farm.

Note: I have pictures of Bricen crawling though a corn stalk tunnel, but I'll save them until the next post.

A Note from Daddy

2010-10-15T08:23:00.001-05:00

At Bricen's birthday party, I happened to walk into Bricen's room as Derek was writing on Bricen's easel. As he wrote, he said the letters out loud.

Bricen got a piece of chalk, saying "Bricen's turn". Derek helped him write on the board. Bricen, in an effort to copy his daddy, said random letters as he scribbled on the easel. It was so cute.

I love watching my son with his son!!!

Birthday Bash

2010-10-11T15:22:00.000-05:00

Princess Kaelin and Spidey Bricen celebrated a join birthday party yesterday. Bricen turned four and Kaelin turned three!!!!

Fun was had by all

Preston, my friend's grandson, was such a great helper with the smaller children

Bricen helped his daddy, then helped Addison open the fridge. Neither one is suppose to be in the fridge, but it's a party, so anything goes, right????

For the first time, Bricen was able to blow out his birthday candle!!!!! Many hands were clapping (I hope Princess Kaelin didn't feel left out).

Bricen doesn't like sweets, but he was bribed by Daddy to take a bite. He had black lips to prove it (from the black "spiderman" web on the frosting)!!!

Kaelin loved opening all her presents, but Bricen had no interest after the second gift, a tractor flashlight. Not to be left out, Addy got her own "gift" of balls from Bricen's room. All the children enjoyed playing together.

Here's a picture of me modeling Bricen's spiderman toboggan. He wouldn't do it, so the job was left to me (is there any wonder he's such a silly little boy???)!!!

I'm always the photographer, so here's a rare picture of Bricen and I together.

I thank God everyday for the gift we received when Bricen was born four years ago. Love you!!!!!

EMG Scheduled

2010-10-07T21:32:00.000-05:00

During our visit with Dr. Koenig, she said an EMG was needed and suggested using a doctor in Houston. After debating the issue, it was decided the fight with the insurance company wasn't worth pursuing Houston. So, his EMG will be done at Vanderbilt. Their experience with Muscular Dystrophy patients make them a suitable alternative.
His EMG is scheduled for October 26th at 9:30. He will not be sedated for the procedure. Houston automatically sedates all children four and younger; however, Vandy insists they can "handle" him. I guess they really mean "man handle", because there's no way Bricen's going to sit still as needles are inserted into his muscles.
It makes me SO mad to thing about all the things this precious little boy has had to endure and now the EMG. I know it needs to be done for answers on how best to help him. I just wished the answers didn't come at Bricen's expense.

What do you get when you have a crazy Gramme, a pink tutu and a little boy....

2010-10-05T11:03:00.000-05:00

Knock, knock who's there??????

Introducing Bricerina......

Some of the moves are hard to master

Don't worry, he hated Kaelin's tutu and couldn't wait to take it off!!! As a mother, I was just as silly - I put Derek in his cousin's dress when he was young. The things one has to resort to when one doesn't have a girl!!!

In God's arms...

2010-09-26T22:20:00.000-05:00

Samuel Knight, who'd just turned four, has lost his battle with mito. Although I'd never physical touched him, he's touched my heart in countless ways. His battle with mito was fierce, as most of his body's systems were affected by Mitochondrial Disease.

He'd just started home bound preschool and was SO excited. A few days later, an infection was more than his little body could handle and he entered lovingly into God's embrace.

Words can't begin to describe how Samuel becoming an angel has affected me. I can't began to imagine the pain his family, friends and caregivers are suffering. His family is strong in God's plans for Samuel and in that faith, they will find healing.

To read more about this amazing little boy, click on the link below:

The life of Samuel Knight

Please keep the Knights in your thoughts and prayers.

Another mito parent, who'd had the honor of meeting Samuel has written a touching tribute, click on the link below:

A fitting tribute

There is no treatment for mito, there is no cure; there is only hope that one day soon, no child has to struggle with this heinous disease and no parent has to suffer the loss of their child. One in five children affected with mito will not live to adulthood. And yet, most people have never heard of Mitochondrial Disease. Hopefully my posts this month have shed a little light and each of you will, in turn, pass the information along.

Mito and the Brain

2010-09-24T16:34:00.000-05:00

Several years ago, mito wasn't even considered as a diagnosis for a child not cognitively impaired or developmental delayed. The mainstream belief at that time, was that the brain was always, to some degree, affected; therefore if a child showed no signs of brain involvement, mito was not investigated any further.
Today's mito savvy doctors understand the brain is only one of the body systems that can be affected and a child can be an honor student and still have a mitochondrial disease.
Just like no two children's mito disease presents itself the same, the brain can be affected different ways in different people. In some cases, the brain is malformed or parts are under developed. In others, the MRI's are normal; however, the child may be cognitively delayed, have seizures or other issues.
Bricen is cognitively delayed and suffers seizures. His speech is still that of a early 2 year old. He adds new words daily to his vocabulary and often speaks in 6 -7 word sentences to make his needs know, but at this time, he lacks the ability to carry on a conversation. On days where he is struggling energy wise, his mental processing slows down. A question that he answers immediately on a good day, he'll need up to a minute to answer on an "off" day.
Several months ago Bricen had an EEG to confirm what we already knew - he was having absent seizures. His type of seizures can be very brief (think 1 - 3 seconds) or much longer. Based on his EEG, his neuro thinks he was having up wards to 150 seizures a day, many of which were so short they weren't noticeable. His seizures are generalized, meaning they affect his whole brain. Thankfully, his medicine seemes to be working; however, a follow up EEG is scheduled for December 9th to ensure the brief ones are controlled (it's hard to see a seizures that lasts only a few seconds).
So, mito, true to it's sneaky nature, may or may not affect the brain on an individual with mito. Or the brain may not be affected at the start of the disease, but become affected at a later date. With mito, everyday is uncertain.

Mito and the Muscles

2010-09-22T17:51:00.000-05:00

When you really think about our bodies muscles, it's amazing how much we depend on them. Without them we couldn't walk, talk or move. We couldn't breath, go to the bathroom or have a heart beat. In other words, not only would muscles not working properly effect our quality of life, it could be fatal.
It is estimated 65% of all affected with a Mitochondrial Disease have reduced muscle tone and/or muscle weakness.
In Bricen's case he suffers from low muscle tone combined with muscle weakness. He took his first steps the month he turned two; however, he was closer to 30 months before he walked more than he crawled. He turns four next week, but due to his low tone and weak muscles his balance remains terrible and he tires quickly when walking because he has to work much harder than the average child. He can't jump or climb more than one small step (not more than 3" or 4") by himself without holding on to a handrail or someone's hand. He doesn't have the hand strength to hold a crayon and draw a picture. His eyesight, combined with weak muscles, make it impossible for him to feed himself with a spoon or fork...he only self feeds finger foods.
But in spite of his struggles, we consider ourselves blessed. It could be worse....much worse.
The GI system is one large muscle and many affected with mito struggle to move food though their GI tract. It isn't unusually for someone affected with mito to use a feeding tube surgically inserted directly into the stomach, or if the stomach isn't working, straight into the intestines. Bricen suffers from reflux, but his GI tract appear to be working normally.
Muscles are needed for the lungs to move air in and out. Some mito children and adults are on oxygen, either a few hours a day, at night or all day and night. Bricen shows no symptoms of breathing difficulties.
The heart is one large muscle and weakens if energy isn't available for it to circulate blood and oxygen thoughout the body. Bricen recently had an EKG and heart ECHO which were normal.
I believe of all the body systems, the muscle group is the one I took for granted the most. I just assumed they would hold me up right as I stand, allow me to breath and keep my heart beating. But I no longer take my muscles for granted and for the life they allow me.
Visit http://www.umdf.org/ to see how you can help those affected with a Mitochondrial Disease.

Mito and Energy (or the lack there of)

2010-09-21T11:01:00.001-05:00

The root cause of a child or adult affected by Mitochondrial Disease is often unknown. This simply means there is no know cause for the disease. To further muddy the waters, mito can be either primary or secondary to another condition. If it's secondary, then the affects of mito can be controlled IF the primary condition can be treated. There is NO cure or treatment for Mitochondrial Disease, so if mito is primary, the only medical options available is to treat the individual body systems as they are affected.
Three systems HAVE to be affected before mito is even consider as a diagnosis. Any body system can be affected and the systems affected vary by patient. As the body converts food and oxygen to energy, the body automatically feeds the systems vital to survival first. However, these systems may not be able to use this energy effectively if the mitochondrial are damaged or lacking.
It makes sense that the most common symptom to all persons affected with mito is fatigue. While this isn't life threating, it does effect quality of life.
Bricen is no exception. As a baby he had to be awaken for feedings and he slept up wards of 20 hours a day. As he got older, his sleep decreased, but he seemed tired all the time. To this day, he activity level is much less than that of typical three year old.
A couple of weeks ago, we purchased a basket ball goal for Bricen. Even in its lowest position, Bricen couldn't reach the rim and his inability to jump combined with his poor eyesight meant the toy was a bust. But the purchase wasn't a total loss....Bricen turned the huge box into a obstacle course.

The playtime was short lived as his little body wore down. With in a few minutes he was saying "too tired, rest for a minute".

His favorite lazy past time is playing with his cars. He'll lay for hours, making up places to go and people to see.

This week is Mito Awareness week....Hope, Energy, Life.

Mito and the Eyes

2010-09-08T19:58:00.000-05:00

For those of you whom haven't had the pleasure to meet Bricen in person, his eyes are crystal blue - like the sky on a crisp fall day. Twinkling and full of life; they’re arguable his best feature.

But for all their beauty, they've been an issue from the start. He presented at birth with nystagmus (dancing eyes), but the doctor assured us it would become less noticeable with age. True to the dr.'s word, as the months pasted, his eyes jumped less. However we all feared something was still "off" with his eyes. Some days he appear to focus fine, but other days, he acted like his vision was limited. We also noticed daylight sometimes bothered him. Once again, it wasn't every time he went into the sunlight, but some days he just couldn't stand the light. We really became concerned the Easter he was one. He screamed during our family Easter egg hunt...to the point where Derek took him inside after five minutes. Once inside he returned to a happy little guy, but screamed again when Derek tried to take him outside for a second attempt to join the hunt.

We have since learned Bricen suffers from optic nerve atrophy. The optic nerve atrophy affects his vision in many ways: far sighted, near sighted, inability to distinguish objects in detailed background, color blind, and loss of peripheral vision (side to side; up and down) and no depth perception. The atrophy also causes his eyes to be hypersensitive to light. When he’s having a “bad” day, normal room lighting can hurt his eyes. His vision loss is irreversible and non correctable and has resulted in Bricen being Certified Legally Blind. However, he CAN see, so we usually tell people he's visually impaired.

If the root cause is mito, the lack of energy needed for the eyes to function correctly caused the optic nerve to atrophy (shrink) and Bricen's atrophy might continue to the point where his vision is totally lost. All children with mito run a risk of blindness, however, many won't develop any vision problems. Vision loss is just one of the many unknow factors those with mito, or those who love someone with mito, face.

Currently, Bricen receives vision therapy at school to help him learn to use his existing vision to the fullest. As for the hypersensitive to light....well, he sports a lot of cool sunglasses.

Mitochondrial Awareness

2010-09-06T15:55:00.000-05:00

September 19th - 25th is Mitochondrial Awareness Week. As I published my last post, my thought was to write posts this month (prior to Awareness Week) portraying Bricen as a "typical" little boy about to turn four. And then, on September 19th, write how he differs from a "normal" little boy.
But, I've changed my mind. Instead, I'm going to tell of his struggles and his accomplishments in each of his posts this month.
A quick overview of Mitochondrial Disease. Mitochondrial supply 95% of the body's energy. When the mitochondrial don't function correctly, all systems of the body can be affected. The affected systems vary from child to child making Mito hard to diagnose. In addition, the degree to which a child (or adult) is affected ranges from mild to life threatening to fatal. Every 30 minutes a child is born that will develop a mitochondrial disease by the age of 10.
Bricen is under the care of Dr. Koenig, a mito specialist in Houston, TX. Bricens' case is shaded in gray....he meets most of the criteria for mito, but Dr. K isn't ready to stop looking for alternate causes for Bricen's issues.
Yesterday's post showed how far Bricen's come in verbal skills (as Kelly from facebook picked up on!). Due to low oral tone, Bricen didn't have the ability to make his tongue and mouth form words. Sign language was his main form of communication until he turned three.  During those years, we weren't sure if he would ever be able to talk and if he did, what level his verbal skills would reach. He'll turn four the 30th of this month, and while his verbal skills aren't strong enough to carry on a conversation, he has over 1000 words and can certainly get his point across!!! There are a number of children with mito that, for various reasons, never become verbal.
So, screaming to touch my bra was, in itself, an accomplishment......embrassing yes, but still a huge blessing!!!

LET ME TOUCH IT ONE TIME...

2010-09-04T21:50:00.000-05:00

Bricen and I spent today shopping. We joined the Labor Day bargain hunters and thoroughly enjoyed ourselves. However, teaching a soon to be four year old the proper name of articles of clothing can be hazardous.
While shopping in the men's department for Grumpy a couple of new shirts, Bricen spotted a manikin dressed in pants and shirt but no shoes. Bricen LOVES shoes, so the oversight couldn't go without comment. After talking about "no shoes" he tried to look under the pants in the vain hope of finding a pair and almost knocked the manikin over in the process. I picked Bricen up telling him it was a "toy" and toys didn't have to wear shoes. Bricen says "okay, toy wears pants and shirt". He followed this with "Gramme wears parts and shirt". Intent on finding the perfect shirt, I absentmindedly said "Yes, I do". Then he says "Gramme wears a bra". This statement got my full attention; I answered "yes" while randomly pulling a shirt off the rack and asked Bricen if he thought Grumpy would like it - redirection is suppose to work, right? He ignores the shirt and says "let me touch bra". I in turn ignore him, start softly singing "Hickory Dickory Dock" in hopes he would join me and ditching the idea of getting Grumpy a shirt, start quickly working my way out of the mens department. In a rather loud voice he says "Let me touch bra one time". Since ignoring him wasn't working, I looked him in the eye and said firmly "No". He then screams "LET ME TOUCH BRA ONE TIME PLEEEEASE". Out of the corner of my eye, I saw several people turned and look at me, but keeping my head down, I not only walked out of the mens department, but exited the store.
I still have no idea why or where he came up with wanting to touch my bra....and I'm certain everyone in the store wondered the same thing!!!!

Normal EKG and Heart Echo!!!!

2010-08-11T17:05:00.001-05:00

Today we received the GREAT news that Bricen's recent EKG and heart ECHO were normal!!!! Dr. K ordered the tests based on his global muscle weakness. Not that she suspected anything wrong, but thought it best to err on the side of caution.

Back from Houston

2010-07-18T13:59:00.002-05:00

Bricen was a trooper on the plane. He sat and played with his cars and GI Joe's and never cried or got *too* wild. That is until the plane started it's descend, then he put his hands over his ears and cried "ears hurt". It only lasted about 3 minutes, then he returned to playing.

A funny little plane story...Bricen asked "who driving plane" and I told him the pilot. About 20 minutes later, he asked for the set of cars keys I'd given him a couple of weeks ago to use with his cars. I told him they were at my house and he'd have to wait. He sat there a couple of beats then said "get car keys from pilot". It was too cute!!!

Houston felt like Nashville, hot and humid. We didn't rent a car, so after the first misguided journey walking to a restaurant, we ordered in the remaining two meals. We stayed at an Extended Stay; there was a kitchenette in the room, but the stay was so brief we never used it (plus anyone who knows me knows how I feel about cooking).

Dr. K and her staff were as warm, welcoming and "un-doctor like" (in a good way) as we hoped. They made all the physical tests and exercises seem like one big game and Bricen loved "playing" with them.

After a systematic exam of Bricen, Dr. K said based on her review, Bricen met the criteria for mitochondrial disease/dysfunction, but he wasn't a "perfect" fit, so she wasn't ready to give him the diagnose of mito.  She explained once she made the diagnoses of mito, she stops looking for any other disease and she wasn't ready to do so in Bricen's case. We knew in advance she was conservative in making a diagnose, so we were happy with her decision.  She ordered labs (blood and urine) to be done there in Houston. The urine was based on a protein showing reduced kidney function on his last Vandy labs. This was news to us, but Dr. K said it may mean nothing so not to be concerned unless we saw a pattern.   Bricen's last labs showed his alanine level to be almost 800. According to Dr. K, numbers this high are a huge red flag for mito and could not be ignored or discounted.

Based on his global muscle weakness, she's sending an order to Bricen's PCP for a EEG and heart echo to be performed at Vandy. There's nothing that suggests a heart problem, but the heart is one large muscle so she wants to cover all her bases (have I mentioned we love her??).

She wants Bricen to return to Houston for a EMG within the next couple of months. This is the one test I've prayed he'd never have to undergo. It's painful and many parents/grandparents said they'd never put their child though it again after the initial test was completed. But, if Dr. K feels it's needed to give a better picture of what's going on with Bricen, we'll move reluctantly forward with the test.

Dr. K mentioned Muscle, Eye, Brain (MEB) Disease something she wants to eliminate for Bricen. I was excited about the prospect of an alternative to mito; however, since my return (and searching the web), I'm confused about her thoughts.

Like mito, MEB falls under the Muscular Dystrophy umbrella. Bricen breaks down as follows:

Muscle - Bricen meets most of the guidelines for this portio

Eye - There's a long list of eye conditions associated with this portion; however optic nerve atrophy
isn't one of them. Dr. K said in our visit he didn't really fit into this portion

Brain - this is the most confusing to me. 100% of the articles and descriptions I read listed "brain
structure abnormalities" as necessary for MEB to be considered. Bricen's two MRI's show
a perfectly formed brain.  Bricen has developmental delays; however, developmental
delays associated with MEB are a direct result of a malformed brain.

Leave it to me to travel halfway across the country to see a specialist only to doubt what she tells me!!! No, honestly I was a little freaked out last night after reading about MEB and my fears of Bricen being misdiagnosed, but I have faith God's hand will lead Dr. K in making the right decisions with Bricen, so I'm at peace today.

All in all, it was a great appointment and I feel better knowing Bricen now has Dr. K in his corner. Mito or not, she'll follow him and ensure he gets the care he needs and deserves.

I'm ending this with a funny little appointment story.  As Dr. K rose to conclude the visit, Bricen said "go pee pee in commode". She said "quick get a cup, we need a urine sample".  As one of the medical students ran to get a cup, we encouraged Bricen to wait a minute. The cup was whisked into the room and pulling down Bricen's underwear, I placed the cup in position and Bricen started peeing with all the adults standing around to ensure a sample was captured. Bricen peed and peed and peed until the cup was almost full. At this point I started saying, rather loudly, "get me a napkin, he's going to overflow the cup."  The medical student that had ran to get the cup, now ran to the paper towel dispender and pulled out about 10 towels. Bricen stopped 1/8" from the rim of the cup so a mop wasn't needed. Everyone in the room broke into laughter and Dr. K said "On that note, I'm leaving the room. See you in a month or so"!! Have I mentioned we love her?

VEEG pushed back

2010-07-07T10:29:00.000-05:00

Vandy called yesterday afternoon and pushed the start of Bricen's VEEG back to Thursday. They didn't have a bed (guess one of the little ones had to stay an extra night).

We're ready and waiting. Bricen's clothes and PJ's can't pull over his head, so two new pairs of zip up PJ later, he was all set.

He also will rack up in the toy department. A quick run to Walmart and his toy chest grew with more cars, silly stuffed animals and a motorcycle. The toys can also travel with us to Houston next week, so they were a worthwhile investment!!

His favorite toys right now are cars; not cars that have lights or make sounds, but the cast metal kind with doors, hoods and trunks that open. He'll lie on the floor, opening the front door saying "Bricen drive", then open the back door and say "Daddy get in car seat". I gave him an old set of keys, so after everyone is in the car, he'll stick the keys into the front seat, start the car then drive off to the store or pack or where ever he can think of at the time.

He's just started having his stuff animals talk to each other. It's so cute to listen to the conversions - they can be quite silly (guess because Bricen's silly)!!! We love seeing him have imaginary play!!!!

Below is his loot

As his eyes filled with wonder,

2010-07-05T13:10:00.000-05:00

my eyes filled with tears.

As those of you who follow Bricen know, he's legally blind; although we know he can see, we're not really sure just how much he can see. In addition, he's hyper sensitive to loud noise, screaming and crying if he becomes overwhelmed. This combination makes fireworks out of the question....until last night.

Our neighbor had a great firework display (he must have invested a small fortune). About a minute into the "show", I decided to take Bricen on the patio to see his reaction (the fact he was already in bed didn't stop me!).

At the first boom, he clutched me tight, but as the sky filled with colors, he started laughing!!! From there on out, he was hooked. With him in my lap, we sat on his slide and enjoyed 20 minutes of awe. With each boom, he tightened his grip, but watched to sky, knowing what was to follow. After 5 minutes, he was clapping his hand, shrieking with laughter and saying "more fireworks, do it again".

It was more than a firework display; in my eyes it was a display if how far Bricen's came - how he overcomes every obstacle in his path.

So, I watched Bricen though teary eyes, thankful once again I'm able to see the world his way.

Happy 4th of July!!!

2010-07-04T12:17:00.000-05:00

My little fire cracker is pushing the vacumn and making his vacumn noise. Got to go...he wants ME to push it now.

Great news from Vandy

2010-07-02T09:51:00.000-05:00

Got a call from Vandy; Bricen won't have to be hog tied to his bed for his VEEG. He has to stay in his hospital room, but after thinking he would be confined to bed, his room seems as large as the world!!!

Bricen loves to clean, so I'm packing a little broom, paper towels and wipes. Boy, is housekeeping going to love him!!!

On other good note, Bricen's speech is improving daily. His sentences are now mostly 5 - 6 words!!!! To think this time last year, he used sign language and spoke using 1 - 2 word sentences. God is good!!!

Back from the neuro

2010-06-25T18:52:00.000-05:00

Bricen's new neuro was all business, but listened to our concerns and asked the "right" questions (in my very limited experience). At first he questioned whether they were seizures and thought they may be staring spells resulting from his autistic like traits or mito. However, after viewing the video I'd made, he said an VEEG needed to happen "sooner rather than later". So, if we can get insurance approval fast enough, the VEEG will be done July 7th.

Note: An EEG measures activity in the brain and can pick up abnormal occurrences. A VEEG is an EEG that is videoed. Bricen's will be 24 hours.

Since it's a video EEG, Bricen has to stay in his room, IN HIS BED!!!! That's right, in a hospital bed for 24 hours straight. The hospital will furnish plenty of toys and activities, but 24 hours....well, lets hope they have a lot of toys!!! However, we're happy with the Doctor's decision as he'll see exactly what we see!!

Send up prayer and positive thoughts that the insurance approval process is complete prior to July 7th. In addition to wanting to start treatment on the seizures, it'll be priceless to have the results forwarded to Dr. K (mito doctor in Houston) before our July 16th appointment. Vanderbilt has already said, if we can't do the test on July 7th, the next available appointment is after Dr. K's visit.

Neuro appointment tomorrow!!!!

2010-06-24T08:05:00.001-05:00

Our neuro appointment at Vandy was scheduled for August 9th, however it's been moved to THIS Friday!!! Bricen's seizures have increased in frequency and are longer. In the past week, his balance while having a seizure is worse and we're afraid a bad fall is right around the corner if they aren't gotten under control at once.

We're going to ask for at least a 4 hour EEG to ensure a seizure is captured. I have a video of his seizure I'll carry to the office so the Dr. will see what we're seeing. I'll update after the visit.

This is what you get....

2010-06-22T08:00:00.001-05:00

when you ask a three year old which shoes he wants to wear shopping.

me: Bricen, do you want to wear your sandals or crocs shopping?
Bricen: Sandals and crocs
me - (get both pairs from closet): Choose the sandals or crocs
Bricen: Sandals and crocs
me: Which one?
Bricen: Sandals
me - (put one sandal on his foot, Bricen pulls his unshod foot away): Let me put the other sandal on
Bricen: No, croc on other one (takes croc off the table and puts on foot)
me: Your shoes have to match
Bricen (screaming): ONE SANDAL, ONE CROC
me: You have to wear two sandals or two crocs
Bricen (screaming): ONE SANDAL, ONE CROC
me: No Bricen, your shoes have to match
Bricen (running into kitchen, screaming): ONE SANDAL, ONE CROC
me (defeated): OK, let's get in the car

I did have the presence of mind to bring the other two shoes and changed the sandal out with the croc before getting him out of the car. By then, he was focused on going in the store and the shoe battle was long forgotten!!! Have I mentioned he was bossy???

Son of Superdad

2010-06-20T08:00:00.001-05:00

HAPPY FATHER'S DAY...LOVE YOU DADDY

Ms. Judy, Ms. Judy

2010-06-18T22:54:00.000-05:00

As I posted earlier, Bricen loves Ms. Judy. She has *almost* replaced me as his "go to" person. Everything is Ms. Judy this and Ms. Judy that....it's too cute.

Ms. Judy is an only child, her husband was an only child and Grumpy is an only child who didn't have children of his own (he's my second husband). All this to say, there haven't been children in Ms. Judy's life.

Bricen has totally won her heart and she's won his!!!

She's fallen right in line following his orders (remember I've mentioned he's quite bossy)

"Put Ms. Judy's shoes on Bricen"

"Criss Cross Applesauce you arms"

"Talk to Bricen"

"Give Bricen a hug" (Ms. Judy's personal favorite)

Eighty-five years separate them in age, but they share a bond that is timeless!!

Whew, Glad to be back

2010-06-13T21:54:00.000-05:00

The past month has been a whirl wind of activity. Getting my mother in law's condo gutted, her moving in with us, finding out she has dementia or Alzheimer (awaiting results of MRI) and will no longer be able to live alone or drive a car. We've made the decision to have her live with us, so yes, we've had a busy month so I've bring away from the computer with the exception of my favorite board.

But, you guys didn't come to hear about me, so lets focus on Mr. Bricen. There's both good and bad news. The good, no make that great news, is he has an appointment with a mito doctor in Houston on July 16th. I'm both nervous and excited. Another child on the board was recently DX with mito (reading his mother's post just broke my heart) - he has always reminded me of Bricen so does that mean the chances are greater Bricen will also be DX with mito? However, there are children that "scream" mito and they don't receive a DX so there's no telling what will happen that fateful Friday. The only thing I do know is the next 4 weeks are going to be lonnnng.

The bad news is Bricen is having seizures. He doesn't see neuro at Vandy until August 9th, but we hope Dr. Koenig (the mito doctor) may be able to give us direction.

Aside from the seizures, Bricen continues to flourish, speaking in longer sentences and just being more "with it'.

He loves the addition of Ms. Judy into the household and they've become best friends!!

FLOOD OF 2010

2010-05-10T12:58:00.000-05:00

Sorry I've been absent, things have been rough here in Tennessee. On April 30th, Tennessee received record rainfall which resulted in our NATION'S largest natural disaster not caused by a hurricane.

Like so many fellow Tennesseans, my mother-in-law was flooded. With water levels of 5 feet in her home, she lost her entire downstairs of her condo and her car. But she was one of the lucky ones. Trapped on the top floor of her condo, she was resused by boat. She's living with us until she decides what she wants to do next.

Because she wasn't in the 100 year flood plain, she wasn't offered flood insurance, so at 86 years old, she has to pay for everything out of pocket. We're hoping for assistance of FEMA.

She's alive and unhurt...the rest can be replaced.

Following are a few pictures...I'll update more as things unfold.

Bricen was with me, our house was not affected.

All Better

2010-05-02T12:48:00.000-05:00

Mr. Bricen is super cranky, but appears to be over the worst of his stomach woes. The great news is his gross motor wasn't affected....no crawling or loss of energy!!!!!!

The goal now is to get additional weight on his little bones. He visited his ped for his illness and not only has he not gained weight in the past 6 months, he's lost 1/2 pound. Being the queen of Google, I looked up the average weight gain of a 3 year old and he should gain 4 - 6 pounds between the age of 3 - 4, but we're going back wards right now. Now to find healthy ways to plump him up; he doesn't like many of the traditional tricks, so we'll have to get creative.

We've been stuck in the house yesterday and today due to severe flooding in our area. The rain fall has set a new record. Luckily my family all lives on high ground, so no problems with us.

Tummy Troubles

2010-04-30T13:36:00.000-05:00

Poor little boy is having tummy troubles. It started last night; today it's obvious he's not feeling well. Pray it passes quickly without any lingering ill effects. The last time he had a stomach virus, his little muscles and engery level both decreased, causing him to revert to crawling by the end of the day.

Here's a picture of a recent trip to the park. Ms. Kaelin is waiting her turn as Bricen prepares to zoom!!!

He IS a Gardener!!!!

2010-04-26T21:32:00.000-05:00

I just posted how Bricen didn't like gardening. Determined to change his mind, I've continued his "training". However, he's proved to be a hard sale. He still won't touch the potting soil or flowers. I asked him to smell the flowers thinking he'd touch them with his hands without thinking about it. Look at the picture - he's smelling them while keeping his hands behind him!!!

His aversion doesn't lend itself to rocks, so I gave him a planter and asked him to put rocks in it for the flowers. The object was to work up from rocks to soil and finally flowers. He loved playing in the gravel and putting rocks in the bottom of the planter (to help the water drain out the hole).

Potting soil still turned out to be too much to handle, so I filled the pot and, handing him the trowel, told him he was ready to plant the flowers. He said "No", went to the side driveway and returned with a handful of rocks. Placing them in the pot, he told me "plant rocks".

Silly me, he is a gardener... a ROCK GARDENER!!!!

Stepping Up

2010-04-22T14:22:00.000-05:00

Bricen has reached yet another milestone....he can climb stairs without holding on to a wall or a handrail!!!! He's able to climb about 2 - 3 stairs unassisted and although it's not consistent, it shows increased leg strength and balance.

He's also recently started opening doors by turning the door knob. This shows increased hand strength and fine motor control.

Sigh....I just love watching his continued progress in gross and fine motor skills!!

He's Not a Gardener

2010-04-12T15:18:00.003-05:00

The time is upon us for planting flowers. I decided to make a day of it....going to the local garden center, picking brightly colored flowers, then returning home and planting them.
Bricen loves to shop, so the mention of shopping for flowers excited him. As he ate breakfast and got dressed, he kept repeating "go shopping flowers". We shop quite often so Bricen has it down pat. You get in an air conditioned car, drive to the air conditioned store, walk about 10 minutes, then relax in the stroller the rest of the time.
We arrive at the garden center and Bricen walks up the owner and tells her "Bricen shop flowers". She joins us, walking around discussing my total lack of a green thumb and which flowers will last the longest under my care (I really try, but everything I plant dies by mid summer). After a few minutes, Bricen starts repeating "go shop flowers" - 10 minutes later he's screaming "go shop flowers" in a full blown fit. Being outside in the heat, walking between rows of vegetation just wasn't the shopping experience he had in mind. I hurried along, made my purchase and put Bricen in the car to cool off (temper and temperature wise)!!
Knowing Bricen couldn't take any more heat, we played inside until early evening. I tried my best to get him excited about planting flowers, but he only looked at me though wary eyes.
He followed me as I carried the flats of flowers from the garage to the front of the house. I handed him a small flower container to carry to the pot in which it would be transplanted. At this point his sensory issues kicked into overdrive. He didn't want to touch the flower or the pot. We slowly worked up from poking the container to holding it with both hands. If you look at the look of total, utter disgust on Bricen's face, you won't be surprised that he put it down on the sidewalk two seconds after the picture, then walked back to the garage saying "all done planting flowers"

I followed him to the garage and back into the house without planting a single flower!!

Later that evening, he was playing with his favorite car. Opening the back door, he said to himself "get in car seat, go shop flowers". This was immediately followed by a shrill "NO". Poor little fellow, he was so traumatized, that even in the land of make believe, flower shopping and planting is no fun!!!

Dare Devil

2010-04-09T08:08:00.001-05:00

Last year, when Bricen's swing set was purchased, I was scared to let him play on it. His balance was terrible; this combined with his hypotonia and muscle weakness caused my heart to race with him doing anything but swinging. I hovered with my hands six inches away from him the entire time he was on the set.
Fast forward to this year. The day Addison and Kaelin visited was the first day this spring Bricen's played on the set. I watched in amazement as Bricen climbed and slid and enjoyed every minute!!

After going down the small slide a couple of times, Bricen decided to up the stakes....he climbed up the slide....

And slid down, adding a little twist...

He climbed though his tunnel on the way to the big slide...

The biggest news of the day was Bricen climbed up the rope "wall" all by himself!!! Last year he tried a couple of times and then gave up. This year he scaled it on his first try!!! I hovered as he climbed so I don't have pictures of his feat, but I have a picture of the wall. It may look small to you, but for Bricen this is HUGE...

I thought he'd calmed down a bit when he got Kaelin's stroller and started pushing it...

Don't worry about him playing with a pink stroller. He pushed it straight to the stairs, picked it up and placed it on the stairs, then let go to watch it crash to the ground (I rescued the stroller after I figured out Bricen's game).

Can you "hear" my pride and joy at Bricen's accomplishments? I know Bricen's strength comes from the strength of God's love - we're all feeling blessed here at camp Bricen!!

Losing our Favorite Doctor

2010-04-07T16:10:00.000-05:00

We received a letter stating Dr. L was leaving Vanderbilt. He's a caring, compassionate doctor and the one doctor that seemed determined getting to the root cause of Bricen's issue. We hate losing the doctor that was Bricen's champion.
However, combined with the saddness, is the fear on how this impacts Bricen's much anticipated (and much needed) trip to Houston for an appointment with Dr. K, a renowned mito doctor.
The insurance company has received a referral request for the visit; however, based on other cases, we expect insurance to deny the claim. When this happens, we need all of Bricen's doctors to write an appeal letter. Dr. L is Bricen's lead doctor. He ran all tests to date, is the doctor that ordered the muscle biopsy and feels Dr. K is the next step in Bricen's journey. Without his appeal letter, we know Bricen's appeal won't be nearly as strong.
In a phone conversion with Dr. L's office in early March, he stated he'd do everything in his power to ensure the insurance company realized the medical necessity of Bricen's making the trip to Dr. K. But, with him leaving mid April, we feared he'd be gone before we recieved the denial from the insurance company and that we'd be scambling to find other doctor that would write as stong a request. But once again, Dr. L proved he really cares about his patients. We talked to his office and he's writing a letter before he leaves so we'll have it in hand should one be needed. It touches our hearts that he's not leaving it in anyone eles hands.
We feel blessed having had Dr. L in Bricen's life and wish him success in all life has to offer!!!

"New shoes, walk better"

2010-04-05T08:37:00.004-05:00

To stretch the clothing budget, most of Bricen's clothes are purchased at the end of the season for the following year. It saves money, but is a bit of a bummer when it comes to shopping as my favorite seasons arrive. To feed my shopping habit, I tend to purchase shoes. For the spring/summer, I've purchased Bricen four pairs of tennis shoes in assorted colors and one pair of sandals. By far, Bricen's favorite pair are the sandals. I don't know if it's because he doesn't have to wear socks or if he feels "freer" because they don't fit as tightly. Whatever the reason, he wants to wear them all the time - and I mean ALL the time. I'll put the sandals on him and he'll walk off saying "new shoes, walk better".

He won't take them off to put on his Pj's unless I promise to let him go to sleep in them. I love the fact that he can make choices and has perferences, so I'm thrilled to walk into his room and see this sight:

I'm not totally around the bend - I take them off after he's sound asleep and dreaming!!!

Happy Easter One and All

2010-04-03T21:27:00.001-05:00

Because of Bricen's optic nerve atrophy, his eyes are hypersensitive to lights, especially sunlight. In order to get an outside picture without sunglasses, he has to be in the shade or in the late evening. I dressed him up in his Easter finery Friday evening and took the following pics of our "silly egg"

On the medical front, Bricen has returned to full throttle after his stomach virus almost three weeks ago. It's hard watching such a small thing as a two day "bug" zap his energy for over two weeks, but he's now running on all cylinders and up to his usually antics (see post below)!!!!!

Spring Cleaning

2010-04-02T21:40:00.000-05:00

I love Spring, the warmer weather, brilliant greens and blooming flowers. The only part I dislike, and I mean dislike, is spring cleaning. Thankfully I have a fantastic helper!!!

He's a whiz with cabinets....

Skillful with a broom and dust mop.....

He'll scrub floors on his hands and knees....

He even does windows!!!!!

On another note, in a previous post I shared we needed to start flossing Bricen's teeth. Well, he's doing great letting me floss them. He fights tooth and nail to avoid having his teeth brushed, but doesn't mind flossing at all!!!

Touching Mito Video

2010-03-29T22:01:00.001-05:00

The following video was done by a mother with a mito child. It's touching and captures the many faces of mitochrondrial disease.

http://www.onetruemedia.com/shared?p=a8fc3b9e09e7792db8c92c&skin_id=1901

Please feel free to share the video with your family and friends.

Hippity Hoppity Easter's on it's Way

2010-03-28T19:38:00.004-05:00

Saturday, Kaelin and Bricen Easter Egg Hunt hopped. In the morning, we went to a local collage for a hunt. With Bricen's sensory issues, I didn't expect Bricen to pick the eggs up off the ground, and true to my prediction, he refused. He kept saying "Gramme get it", so I handed him three eggs (I had told the sponsor before hand about his issues so they wouldn't think I was breaking the rules). The first two he put in his bucket, but the third, a purple egg, had a smaller piece of candy inside. Once he discovered the egg made "noise", he didn't want any more eggs. He doesn't like candy (unlike his Grammie), so the noise held more interest than the surprise inside!!

Bricen carried the purple egg and a bag of candy from the yellow egg around with him the rest of time spent at the collage egg hunt.

Kaelin wouldn't have anything to do with the first hunt; she cried when Sheri (aka Granna) put her down.

Kaelin DOES like candy, so she was a little put out when she discovered Bricen had candy and she didn't.....

Bricen was kind enough to share his candy, and after a quick lunch, we were off to the second hunt of the day, held at a local elementary school. This egg hunt differed in the fact there were no eggs for the 0 - 3 age group. Instead the wrapped candy was in plain sight on the ground. Even better, there were bags of animal crackers and gold fish type crackers. Bricen eats both of these so I was excited to think he might actually "hunt" for himself.....and he did!!!!!

Bricen ended up with seven bags and seemed pleased with himself!!! I was so excited that he actually picked them up! Kaelin wasn't going to be left empty handed this time, so she joined in the fun (much to the delight of her Granna).

Bricen was so excited at the end of the hunt, he decided to kiss Kaelin, but she had other ideas. All in all, it was a fun filled day for all involved!!!

Spring has Sprung!!!!

2010-03-21T18:01:00.003-05:00

The first day of spring proved to be beautiful and we took full advantage. We had the honor of babysitting Ms. Addison for the day. The play date was complete when Ms. Kaelin came over to join in the outside fun!!

My sister lives next door to me; Kaelin is her 2 year old granddaughter. While full of energy and personality, she's still quite the little lady. Note in most of the pictures she's holding her snack bag; she wouldn't put it down for over a couple of seconds....too funny.

Ms Addison is my nephew's 9 month old daughter. I've been begging for the pleasure of her company and finally got her yesterday (thanks PJ and Alicia)! She's a happy go lucky little girl with an endearing smile and contagious giggle.

Bricen loved having a baby in the house. He insisted on helping give her a bottle (even though she's almost as big as him)!

I knew he REALLY loved Addison when he shared his Elmo!!

I'm sure you guys noticed I didn't post any outdoor pictures of Bricen. I wanted to focus on the "girls of the day"; his pictures will follow in a couple of days.

We share in our house (even when we shouldn't)!!!!

2010-03-18T20:05:00.002-05:00

The other day, Bricen was eating his morning snack of yogurt when I heard the words "Lindsey's turn". Bricen, ever the generous soul, was sharing his yogurt with Lindsey. Normally we applaud Bricen when he shares, but well......I wasn't really sure what to say in this case.

Take a wild guess who's Lindsey (or maybe I should ask WHAT is Lindsey)?!?!?!

Yes, Lindsey is our 12 1/2 year old Lab. We have 3 dogs, but Lindsey is Bricen's favorite. I guess that's why he felt the need to share his treat. We've been working on helping Bricen share his toys, so I couldn't say anything negative to him (actually I giggled quite a bit). Looks like he's got the concept down pat!!! Note: I took the spoon away before Bricen had a chance to take another bite with it; he screamed "Bricen's turn" while I got another spoon.

Don't worry about Bricen missing a few bites of his snack. The next day, Lindsey returned the favor by sharing her food.

Once again, I got to Bricen before he ate any dog food (at least I think I did). Maybe I need to grab Bricen instead of the camera, but boy, I love the pictures!!!!!

His World

2010-03-15T13:29:00.001-05:00

Well, it was rude to wait almost an entire week to udate after saying Bricen was under the weather!! In my defensive, my elderly parents have spend the entire week in my house while my siblings and I remodeled their house.

Bricen was sick to his stomach until Wednesday. His appetite is 100% back to normal; however, he hasn't totally returned to baseline. While grocery shopping Friday night, he started crawling after 10 minutes in the store.

This happened again Saturday when we visited the mall to purchase him new shoes. He dropped to his knees and started happily crawling though the mall. When picked up, he screamed to be put down, only to return to crawling. In his world, crawling is a 100% acceptable mode of transportation.

Sunday, I decided if he couldn't walk beside me, I'd crawl beside him. We had a blast being a meowing cat....

A barking dog...

And a neighing horse...

I have faith that by this time next week, he'll be back to walking 100% of the time, but until then his world will be the norm for my world.

Under the Weather

2010-03-09T11:34:00.002-06:00

Bricen's school called yesterday because he was vomiting. A stomach virus had been making its way though the school and it appears to have found Bricen. He slept most of the afternoon which is unusual since he stopped napping about a year ago. Last night he didn't have much of an appetite but was drinking enough to keep him hydrated. He's still asleep this morning; we're praying he wakes up with his appetite back and feeling much better.

We are blessed in the fact that Bricen's never sick, so any illness, however minor, gets our attention. With his last cold, he was sleeping 16 hours a day and crawled as often as he walked for a couple of days. Scary stuff indeed.

On a side note (seems like I always have a side note), we had a huge family weekend giving my parents house a make over. My parents (Bricen's great grandparents) came to my house for an extended stay while my brothers, sisters, all the grandchildren and I painted, replaced carpet and deep cleaned their entire house. We had a great supervisor - here she is pointing out a spot I missed while painting.

The little cutie is Addison, aka Addy, my nephew's 9 month old daughter. She is the sweetest little girl with a great personality; she kept us smiling all day. One of her favorite past times while in her pack and play was smashing her face against the sides. She'd press her face on the mesh, all the while giggling and laughing.

Of course, she got plenty of hugs and kisses from everyone, especially her daddy PJ.

Grand Rounds

2010-03-06T01:31:00.000-06:00

Yesterday (Friday, March 5th) was the Grand Round Family Meeting with Dr. C. About 25 people were in attendance, two of which were adults with mito. The first half of the meeting consisted of a slide presentation. The presentation was basically Mito 101, and although I didn’t learn any new information, it was very well put together and really broke all the medical “mumbo jumbo” into lay men’s terms.

The second half of the meeting was a question and answer period, and the part I found most informative. It was both enlightening and touching. By the end of the time, almost all had shared a short overview of their loved ones story and asked questions centered on their concerns.

My questions centered on Bricen’s conflicting muscle BX results. As soon as I mentioned the DNA copy was 166% above normal, he asked if Bricen was autistic. I was floored, because although Bricen isn’t “classic” autistic, he has several strong autistic traits. Dr. C said there is growing support that a link between autistic traits and above normal DNA copy exists. That’s not to say all children with mito and autistic traits have elevated DNA copy, but it’s one of the markers. On to the $64,000 question - a negative ECT, but all other tests point to mitochondrial involvement. Should we discard or back off from the mito path in search of other illnesses/conditions? His response was the ETC test was only one of many and although it could confirm mito, he never discounts mito based on a negative ETC if other tests and findings support a mito dysfunction or disease. He stated the ETC was no longer the gold standard in answering “mito or not”. He feels the muscle bx is important, but all aspects of the results should be considered, not just the ETC. Of course, without seeing Bricen or his records, he could only speak in general terms, but said mito could still be the answer. Upon hearing Bricen suffered from optic nerve atrophy, he asked if Optic Atrophy Type 1 (OPA1) had been ruled out. OPA1 has never been mentioned, but we couldn’t say for sure if this type of mito had been tested (something to look into next week).

Other items bought up by families in attendance:

• Sleep patterns – Dr C feels all persons suspected of mito have a sleep study. Unidentified sleep problems are common in mito patients and he said lack of sleep reaps havoc on mitochondrial.

• Eating – all persons suspected of mito should eat the amount of calories needed to maintain a healthy BMI each and every day. In the case of obesity, the patient should not reduce the amount of calories under the idea BMI threshold, but should instead exercise.

• Exercise – speaking of exercise, any exercise (even if it’s only lifting a can of mixed veggies from a wheelchair) can increase mitochondrial function by 20%.

• Prognosis – in most cases is impossible to predict

• “Probable” mito – stated a patient is only give a firm mito dx if all other conditions are ruled out or if an indisputable finding (ETC, mtDNA, etc) is discovered.

I’m sure there are other items, but it’s late and my brain is already asleep!! If anyone has the chance to attend a grand round, it’s well worth the time.

And for all of us with muscle bx that raised more questions than answers (like negative ETC’s when everything else points to mito dysfunction), we need to follow our instincts and our “gut” feelings.

Headed to a Mito Family Meeting Today

2010-03-05T08:19:00.001-06:00

We're headed to Louisville, KY today for Grand Rounds. "Grand Rounds" are sponsored by the United Mitochondrial Disease Foundation, and are staged though out the United States to raise mito awareness in the medical community. In addition to the doctor conference, there's a "family meeting" where families are invited to hear a guest speaker. Dr. Bruce Cohen, a leading expert in mito, is today's speaker. We hope to learn addition information about mito and perhaps hear of new advancements.

The family meeting is only two hours, so we're driving up and back today. We're so excited, it's our first opportunity to hear about mito first hand!!!!

On a totally different subject, Bricen is doing GREAT potty training. He's in "big boy" underwear all day - including school - and aside from the occasion accident, is totally trained to "pee pee in the potty". We havened had the same success in the "number two" department (I know, too much information), but I'm sure it'll happen soon enough. We couldn't be prouder of our little guy!!!

Grief

2010-03-03T20:03:00.002-06:00

Following is a look inside one mothers view on dealing with the grief associated with having a special needs child:

"I sit on the park bench eating cheesy popcorn and watching young children on the playground. I am enjoying the day, the sun on my face, and the smell of fresh grass.

Randomly I think, I wish Samantha could run and play with these kiddos.

And there it is, the cold hand in my cheesy popcorn; the presence taking up too much space on the park bench, blocking my sunshine. My Grief….

“Really?” I say. “I didn’t invite you. Get your hand out of my cheesy corn.” Instead, I end up having to scoot over, making more room for my Grief.

Grief comes and goes when I least expect it. I’ll be in my car, driving along listening to music and I’ll catch it in the corner of my eye, kicking the back of my seat.

“Hey Heather.”

“Aww crap, what are you doing here?”

“It’s been a while. I thought I would stop in for a visit.”

“Well, make sure you fasten your seatbelt and be quiet. Samantha’s sleeping and I don’t want you to wake her up.”

“Can I change the station?”

“No.”

“Can I play with the window?”

“No, you can just come along for the ride.”

So we go on the ride together; fingernails thumping on the dashboard as a reminder of who decided to show up today. Yes, I am quite aware of your presence, you don’t need to remind me.

Grief’s appearance used to rattle me, send me into the bathroom, crying hysterically. Render me worthless for a day. Sometimes it still does but as Grief has been established as a consistent visitor in our household, we have drawn up a contract. We have an agreement.

As the mom of Samantha, a child who does not walk or talk, a child who is suffering from a mitochondrial disease, I will grieve. I will grieve for many dreams that will not come to fruition. I will grieve for a life I thought would be different.

I will grieve at times. And I will not grieve at times. I will laugh at times. I will not laugh at times.

Grief can come into our house but is not allowed to stay. If allowed to stay, it would devour the corners of our house. It would suck up the oxygen in the room. It would consume me.

And that is not acceptable.

Grief tends to run within the Special Needs community. I bump into him quite often.

How are you?

My daughter had pneumonia. She is in the hospital on a ventilator.

I look around and see Grief, sitting on the couch, smugly picking at dirty fingernails.

And I meet those who sadly keep very, very close company with this unwanted guest. Grief hangs over them like a shroud. It is hard to laugh. It is hard to love. Because in copious amounts Grief tends to ooze; like a nasty septic wound…draining life from us.

But we still have to laugh, we still have to play, we still have to live….life carries on…

….and on

....and on….

I cannot, at the end of my life say….well, it was long, hard and I was sad.

Surprisingly, our relationship is not based entirely on conflict. My interactions with Grief have allowed me to see myself entirely raw, unprotected, and exposed. At times I feel that I have lost my skin…..yes, here I am. Be careful, that’s my beating heart you see there. Oh no, no, do not touch.

I am no longer afraid to approach others regarding their own tragedies. I bring up the tough conversations. How is your mother? I am sorry for your loss. I am so sorry your daughter is in the hospital. I hug, I cry, I listen. Not because I am an uber-sensitive but because I know Grief sometimes travels alone except when he travels with his favorites… Isolation and Loneliness.

Sometimes Grief shows up at a party…..drinks my wine, eats my last bite of fudgy dessert. It’s an annoyance really but since Grief is not a constant life guest, I have learned to tolerate the time we spend together. Sometimes we even enjoy an introspective moment or two.

We have set the rules and sometimes they are followed. We cannot have a permanent impy, uninvited, grievous house guest...we don't have the room...not in our lives, not in my heart...life is too short and despite the bad things that can happen... life is too sweet."

Truer words were never spoken. However, the pure joy of having a "special" child in your life quickly becomes the number one feeling and grief "visits" less often.

Smile

2010-02-27T12:45:00.000-06:00

Bricen suffers from reflux and because of this, his teeth are at a greater risk of forming cavities. But don't worry, he went to the dentist yesterday and his teeth are in perfect condition!!!! The dentist did note his teeth were close together and instructed us to start flossing.
Flossing his teeth will be easier said than done. The only way to brush his teeth is to put him in a headlock. I'm not kidding, we're tried everything under the sun to help him over come his oral sensory issues as they relate to teeth brushing; however, NOTHING has worked. So three times a day, we wrestle with him so his pearly whites stay pearly white. We might have to resort to hog tying him to floss his teeth!!

His smile makes every battle worth the effort

To the Eye Doctor We Went

2010-02-23T21:21:00.001-06:00

Today was Bricen's annual visit to Vanderbilt's Lion Eye Center. The visit itself was uneventful. Bricen's optic nerve atrophy is at "steady state" (YEAHHHH). Dr. E (who appears to be in his late 50's) stated Bricen's optic nerves were some of the palest he's encountered during his career (read - his eyes are bad).
Dr. E seemed genuine happy to hear Bricen was headed to Houston. In addition to (maybe) getting answers to what's going on with Bricen overall, he said Baylor in Houston was leading the nation in researching optic nerve atrophy caused by mitochondrial disease and had actually improved several patients vision!!!! It's way to early to know if Bricen is a candidate for this treatment (we're not even sure if he has mito), but the mere fact that this brand new treatment (only available for 6 months) exists is a huge step forward. Any mito research, whether it helps your child (or grandchild) or not, is a huge step forward!!!!!
Dr. E saw nothing in the exam that would cause eye pain, so we'll just wait and see if Bricen mentions his eyes hurting again.
Before the eye appointment, we had to drop by Vanderbilt Children's to get labs drawn. Bricen acted like any three year old getting his blood drawn, but the big news was he peed in the cup like a big boy!!!!! Oh OK, I bribed him with a balloon, but still it was exciting!!!!

I have to admit I've sneaked something in on you guys....we've been working on potty training Bricen for the past two weeks and he's doing really good. Good enough to peed in a cup on command!!!! He loves his "singing" potty. Yes, it actually plays a little tune as a reward. Which is great for our little music loving prince!!!! Bricen's "throne"...

"Eyes Hurt"

2010-02-18T13:17:00.002-06:00

We've heard those words, combined with whining and pressing on his eyes, three times in the past few days. Don't know whats up with the little fellow. The last time he had an ear ache, he held his ear saying "ear hurt". We called his ped yesterday, who advised we call his pediatric ophthalmologist. The ophthalmologist office hasn't returned our phone call, but luckily Bricen's yearly visit is next week (23th), so if they can't see him this week, he's assured an appointment next week.
His nose isn't running and he doesn't seem stopped up, but it may be that's he's having headaches and is expressing the pain as "eyes hurt". His ped said to call him back if the ophthalmologist didn't find anything.
With his optic nerve atrophy, anything happening with his eyes is scary!!

Since I was on a "cyber" break during Christmas, here's a couple of pictures...

Happy Valentines Day

2010-02-14T08:24:00.003-06:00

This past Friday, Bricen's preschool class had their Valentine party. Bricen loves school and we, in turn, love all his teachers and class mates. He's made many friends...some real

And some just offer a little comfort during a long day.

Check out the cute little valentine boxes Bricen's mom made by hand - one for each child in the class!!!

After the party, I bought him home with me for a surprise from Grammie and Grumpy....a sea of ballons!!!

Happy Valentines Day....from our hearts to yours!!!!!

Diaper Dodger

2010-02-12T08:26:00.002-06:00

No, we don't hurl diapers at Bricen's head, forcing him to dodge them (although he probably would think it was fun)!!! The game is him dodging us after he hears the words "lets change your diaper". In the pictures below, he's hidden behind the screen in the corner of the great room.

His expression is one of "catch me if you can"!!!

Don't you agree it's time to potty train?????

"Oh, Bricen Made a Mess"

2010-02-08T14:22:00.001-06:00

these five words, spoken in an exasperated tone by Bricen, brings a sense of dread to all within ear shot. Why you ask???? The old saying "a picture is worth a thousand words" comes to mind.....

He learned the expression by hearing it repeated over and over by the adults in his life!!!

To be honest, we may be exasperated by his actions, but he seems quite proud.....

He really IS a silly monkey!!!!!

Winter Wonderland - a rare treat in Nashville, TN

2010-02-02T19:23:00.001-06:00

Here is Nashville, a mere 1" of snow shuts the city down. So the recent 4" snow fall was a real treat (especially since I'm not working right now and therefore don't have to drive in it)!! For the first time in his young life, Bricen got the chance to play in snow.

After putting on several layers of clothes, we ventured out for a romp in the snow. However, Bricen wasn't quite sure whether he was in a wonderland or a nightmare.

After a few minutes of coaxing, he became interested in the "know". The greatest problem after that was convincing him to keep his gloves on.

We walked to the mail box and down the road (don't worry we live out in the country). By this time, Bricen was happily walking along. He even let go of my hand and walked 10' away from me so he could "touch know one more time".

No snow day would be complete without snow balls!! Bricen kept smashing them in his gloved hand and getting mad. After telling him "be gentle", he managed to hold one for over 5 seconds.

His feet may have left little footprints in the snow, but they left huge tracks in my heart!!

Muscle BX results - some answers, some questions (mostly questions)

2010-01-31T14:56:00.000-06:00

All tests were complete and returned from Baylor to Dr L’s Vanderbilt office on January 15th. The muscle BX surgery was December 3rd, so the turnaround was 6 weeks and 1 day. We were stunned when we received the call with the results so quickly. We didn’t understand all the medical jargon (really who does????), so we waited for the written summaries:

1. ETC - Reports states “Deficiencies in ETC were not detected”. Two were on the borderline.

2. Mitochondrial DNA Copy Number in Skeletal Muscle – Reports states “Mitochondrial DNA content in the muscle specimen of this individual is approximately 166% of the mean with muscle and tissue matched controls. This increase in mtDNA content could suggest a compensatory amplification common to mitochondrial dysfunctions. Increased mtDNA content has been observed in patients with point mutation mitochondrial tRNA genes or with mtDNA deletion. Test results should be interpreted in the context of the patient’s clinical and family history.” Dr. L has ordered mtDNA testing on the muscle sample. Plasma mtDNA testing was conducted in June and came back negative.

3. Electron Microscopy –Report states “There are autolytic changes manifest by mitochondrial swelling. The mitochondria are mildly pleomorphic but otherwise unremarkable. The findings are nonspecific.

4. Staining – Reports states “There is moderate variation in fiber sizes, with disproportionate atrophy of type 1 fibers”. There were other points in the report; however the size variation and atrophy were the only items noted as abnormal.

Although his ETC was clear, the other test still point to mitochondrial involvement. So, we're not sure what all this means for Bricen.

We return to Dr. L on March 18th. By then he should have the muscle mtDNA results. Dr. L is great; however, I see a trip to Dr K in Houston in our future. More waiting...what fun!!!

I took a break from all things medical, but now am back and will restart blogging!!

I'll post later about Bricen first romp in the snow, but for now here's a preview

The Grinch

2009-12-14T14:56:00.002-06:00

no, not Bricen, but the television special. "How the Grinch Stole Christmas" has long been my favorite Christmas special. It's the ultimate Good over Evil story, highlighting catchy music, adorable little Whovillians and Max, the reluctant dog cohort.
I eagerly searched the guide for the first showing and, with great excitement, hit "record". Visions of sitting on the couch, sharing in the Grinch's ghastlier deeds filled me with joy.
On Saturday night, I pulled Bricen into my lap and hit "play". Bricen promptly got off my lap to go stand in front of the television and dance.

As soon as the first song stopped playing Bricen said "more Grinch". I tried to convince him the Grinch was still playing, but he cared nothing about hearing the story. I fast forwarded to all the different songs, but Bricen's favorite was the first song. So, for the rest of the weekend, Bricen would walk up to me saying "watch Grinch". As soon as the intro song was complete he'd bring me the remote to rewind.
I estimate this weekend we watched "How the Grinch Stole Christmas" 50 times; well, more accurately the first three minutes of "How the Grinch Stole Christmas" 50 times.

I'm delighted, Bricen loves the Grinch as much as I; he just loves a shorter version!!!!! My vision of sitting on the couch sugglied together watching the story unfold changed to me sitting on the floor, swaying in time to the music and hitting rewind over and over....and you know what? It filled me as much joy as my orginal version ever could (maybe even more)!!!!!