William “Will” Patrick Martin was born on April 24, 2009. After a quick 21-hour labor, he greeted the world as a healthy 9 pound 1 ounce baby with a cone head that would rival well, a cone head. The cone head went away and so did the black hair he was born with.
As the months went by Will did all the normal tricks every new parent coos over: he laughed, cried, rolled, sat, army crawled,crawled and got plenty of ear infections.
At his annual check-up in April 2010, our pediatrician checked Will’s legs and muscles because he wasn’t walking. He was sort of cruising and could get around for the most part, but he couldn’t stand on his own. We were instructed to come back in three months, we did, and there had been very little improvement.
We spent the next year in therapy, seeing specialists, doing blood work, labs, EMG, MRI, CAT Scan, spinal tap and a muscle biopsy to figure out what was going on. All the while, Will made HUGE strides, literally. He started walking on Christmas Day 2010 and he was kneeling to stand, sitting really sturdy and made vocal and chewing advances.
After meeting with a ridiculous number of specialists being told it could be random hypotonia, muscular dystrophy a mitochondrial disorder or who knows…. we agreed to do an MRI and then be done with this whole thing.
Little did we know, we had just begun. The MRI results cameback showing four lesions on his brain near the deep cerebellum. (That tissue is now dead, results of 2012 MRI repeat) Needless to say, we were shocked. Fromthere, we did the muscle biopsy, spinal tap and CAT scan to further assess what those lesions might be.
On July 5, 2011 our lives were changed forever. I call it BD and AD – before diagnosis and after diagnosis. Before, you just live in ignorant bliss assuming you can beat the odds. After diagnosis, you just try to keep living.
Will was diagnosed with a mtDNA mitochondrial disorder Complex V known as Leigh syndrome. Specifically, a genetic mutationpoint 9176 T>C. There is no cure, and the disease is progressive. We were told that it was unlikely he would live to see his teenage years.
Essentially the lesions on his brain will continue to appear and it will move through his brain, brain stem and spinal cord. This type of disease can manifest in every thinkable way – blind, deaf, non-verbal, non-mobile, non-responsive, respiratory failure, heart disease, kidney failure, and so on…
Thankfully, we have made great strides in this new world:
-We were accepted into the EPI-743 drug study program at Stanford. We’ve been on the drug since September 2011 and have seenpositive outcomes.
-We have gotten a lot of his BM problems under control with Miralax and a probotic.
-His chewing and swallowing skills have improved so much that he can have chips or nuts, but we still are very cautious as he often gags if he is too tired to chew.
-His physical abilities keep improving. He will never run, jump or skip but that kid can get around.
-His social, emotional and cognitive abilities have never been in question and he continues to excel. He may not be able to fully verbalize to the extent of his peers, but he is able to learn and communicate well.
-He started on SubQIVG infusions, Hizentra, in October 2012. This has been instrumental and life changing for Will’s overall health.
-While the original brain lesions are now dead, no more have appeared.
-Most importantly, Will is a happy, loving little boy who finds joy in all that he does.
So, Will’s Story — our greatest hope is that he stay happy and healthy as his parents, family and friends continue to try and reconcile what we see and what we know. We work to enjoy every bittersweet moment we have with our little buddy.