Primary Mitochondrial Disease Diagnoses - The road to discovery

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