"Oh, Bricen Made a Mess"

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

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)

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

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)!!!!!

Medicine Man

The title should actually read "Medicine Boy", but "Man" sounds better!  Bricen loves to take medicine, or more accurately, Bricen loves to give himself medicine, which he takes on a daily basis.
When he was younger, he fought tooth and nail; we'd almost have to put him in a headlock as we forced the syringe into his mouth (wow,seeing it in writing, it sounds really cruel doesn't it?).
A few months ago, as Bricen's favorite words become "Bricen's turn" and "I do it", Daddy decided to make all our lives easier.  He worked with Bricen until he willingly put the syringe into his mouth on his own, then push the plunger by himself...and believe me, Bricen has some awful tasting medicine!!!!  Bricen now views medicine time as an opportunity to show off his new found independence!!!

Now, all we have to do is figure out how to keep him from asking for more medicine.  After giving himself all his medicine we'll say "all done".  He'll respond "last one", meaning he wants one more.  Numerous melt downs have occurred because he's finished giving himself all his medicine.  I'm a little embarrassed to admit we've all been guilty of giving him syringes of water to calm him down.  However, since he's three years old and therefore is going to have melt downs, we'd rather they be because he wants his medicine and not because he doesn't....those headlocks were getting old!!!

He's Back!!!!

Today I can finally say Bricen is at 100 percent.  The moment he woke up, his eyes were twinkling, he was talking and laughing and moving without any concession to his leg; he was back!!!

This morning, I guess he decided he needed to exercise and was kind enough to invite me.  While walking into the kitchen, he said "sit down, please".  Since he is the boss of me, I promptly plunked right down on the floor.  He sat down, telling me "criss cross applesauce" (sit Indian style).  As soon as I crossed my legs, he told me "legs straight" (he W sits, so he hears this 100 times a day).  This command was followed by "stand up"; as soon as I stood up, he said "sit down".  He repeated the commands, in the same order, about 10 times.  Let me tell you, he's a real drill Sergent!!!!

 To prove he's an equal opportunity drill Sargent, he included Grumpy in his evening exercise program.  After dinner, as Grumpy (aka Bricen's Grandfather) relaxed while watching TV, Bricen walked up to him, saying "Get me".  Because Bricen is also the boss of Grumpy, Grumpy pulled him into his lap, hooping and hollering, and of course, tickling.  After a few minutes, Grumpy stopped, Bricen got off his lap, took about 10 steps backward, then returned laughing, saying "get me".  After repeating this routine about 8 times, poor Grumpy was exhausted!!!

Grumpy may have run out of steam, but Bricen was on full throttle.  I had earlier placed a box with a 10' piece of packing paper in the living room, because, well what little boy doesn't love a box large enough to crawl in and out of????

As the pictures show, Bricen has returned to the silly, fun loving (and somewhat bossy) little boy he was presurgery....and we're so happy to have him back!!!! 

On the Road to Recovery

We removed the large plastic square covering Bricens' incision. Fear that removing it would hurt was unfounded; it came off after a bath without any pain. Due to Dr. L's request for a double sample, the incision is about 3 inches long.  It's healing nicely, with little bruising and minimal redness.

Bricen's feeling good, crawling more than normal, but then, he's always been good at knowing his limits and self moderating.  He's a little crankier than normal, but has moments of his silly old self - when I told him I wanted to take a picture of his leg, he kicked his leg out in an attempt to help!!!

After I took pictures of his leg, he insisted on "more pictures". He's becoming quite the model  - I guess after 3000 pictures, he's decided to go professional!!

Overall, we're thrilled with his recovery.  His appetite is normal and he's completely off Loritab because ibuprofen is keeping the pain in check.  He's not going to school for the next couple of days; we'll see how the incision looks mid week.  Oh, and he'll look at his incision and then quickly say "no touch leg", so that's one less worry!!!

Muscle Biopsy Surgery Details

Sorry this update is a day late, but yesterday we were mentally, emotional and physically exhausted after the muscle biopsy.


The day started with Bricen is a good mood, tired (he had to get up at 5:00), but happy. He wasn't’t too thrilled about the arm band and kept on saying “take if off”, but it was only a minor inconvenience.

He was easily distracted by riding cars, glove balloons and the ever present Elmo.

Dr. Marrow, the surgeon, came in; he was beyond fantastic. He patiently explained the operation in detail and answered all our questions. After discussing the procedure, we expressed concern ensuring the muscle sample was handled correctly. Dr. Morrow immediately called his nurse and asked Dr. Lanpher (Bricen’s geneticist and the doctor whom wrote up the order) call him. Dr. Lanpher returned his call, and standing beside Bricen's bed, Dr. Morrow went over every step of the procedure and between the two they lined up “runners” to move the sample from the operating room, assigned who was to arrange Fed Ex shipment to Baylor and who was going to track the shipment to Baylor. God blessed us with these two caring, compassionate doctors!! Bricen’s leg was marked and we were one step closer to the operating room. Note: For those of you reading this having medical knowledge, the doctors thought it best to remove twice the normal amount of muscle to ensure both Vanderbilt and Baylor had ample to test. The negative - a longer scar (2 ½ - 3 inches).

The anesthesiologist stopped by the holding area and reluctantly agreed to MH precautions and no lactic ringers. I say “reluctantly” because although both Dr. L and Dr. M agreed MH precautions were a safe move, she stubbornly wanted to argue the point. She finally said “she would process with MH precautions based on what she DIDN'T know instead of what she DID know”. Well, that was the point all along, but we got what we wanted so we smiled and said “thanks”. Bricen was given Versed, a commonly used preop sedative. He quickly became groggy, the nurses tucked him under his blanky, handled him Elmo and after quick kisses he was wheeled away.

Surgery went off without a hitch, we were assured the sample was handled correctly and we all breathed a sigh of relief and said much felt prayers of thanks. After about ½ hour, we were allowed into recovery to encourage Bricen to speak, drink and interact. Bricen’s first words after coming around were “put shoes on” and we were all smiling at our goofy little boy.

He suddenly became increasing agitated. We first thought it pain induced, but he then stopped recognizing us and obviously had no sense of where he was, who he was with and what was happening. A doctor was quickly called and Bricen was diagnosed with “Post Operative Delirium” most likely caused by Versed. He was moved into a private room, two nurses were assigned to him and the doctor checked in on him about every 15 minutes.

For 2 ½ hours, he screamed, kicked, hit, and thrashed about nonstop. About 1 ½ hours into the episode, Derek left the room. After a few minutes I went in search, only to find him sitting in an empty room sobbing. He quickly regained his composure and went back to comfort his buddy. We were traumatized by the experience and all say it was the worst 2 ½ hours of our lives. Nothing had prepared us for his violent reaction and therefore we were scared.....gosh were we scared. I took no pictures during this time.  I liken taking pictures to that of taking them at the scene of a car crash or violent accident.....it was really that horrific. His charts were noted and we're requesting copies to ensure this nevers happens again.

As his confusion decreased, he visually became himself asking for the Grinch (brought into his room by desperate nurses) and bread (what he calls a sandwich). Derek ran down to cafeteria, returning with a turkey sandwich, which Bricen quickly ate. We knew we had our little boy back when he pushed the button on Grinch and told everyone to “dance” while he tried to pull the pulse/ox off his toe (notice he's stripped down to his diaper because he overheated).

He was sent home with liquid Loritab and instructions to alternate it with ibuprofen. He slept all night long. Today, he walked a little on his leg, but mostly sat on the couch or played quietly on the floor.

Had it not been for the 2 ½ hours in which he was delirious, the muscle biopsy would have been largely uneventful. For those of you reading this knowing, or suspecting, a biopsy is in your child's future please don't be discouraged.  Bricen's reaction isn't common and the answers we'll receive will be worth the 2 1/2 hours.  We'll always remember the delirium, but thankfully Bricen has no knowledge of the time he spent out of control.

We're thankful God held Bricen in his hands and we thank each and every one of you for your prayers and positive thoughts. We’re glad this is behind us and are now settling in for the loooong wait for the results.

Send a Prayer Our Way for the Muscle Biopsy

Tomorrow, Thursday December 3rd, is finally here. At 9:00 a.m. Bricen will be in surgery for his long awaited muscle biopsy. We're a little nervous, but above all else, we feel blessed that this stage of our journey is nearing an end.

One of our concerns is the fact that the sample is frozen instead of fresh. This greatly increases the possibility of a "false negative" (meaning the test states "no mito" when he does indeed have Mito).

Please join us in prayer....for the surgeons’' hands.....for no complications....for the sample to be handled correctly.....for the test results to be accurate.

Preschool Happiness

Well, while it may not be true that he's happier at preschool than at home, there were NO panic attacks, not even one tear today!!! 

We can't say enough times how blessed we are for these special teachers!!

Bricen being "kissed" by his best friend Elmo...