Will at 1 day old.
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. Along with swine flu (Oct. 2009) and RSV (Dec. 2009).
At his annual pedi check up in April 2010, our pedi checked Will's legs and muscles out because he wasn't walking. He was cruising sort of and could get around for the most part, but couldn't stand on his own. We were instructed to come back in 3 months, we did and there had been very little improvement.
Will at 1 year old.
Our pedi referred us to Dr. Charlotte Stelly-Seitz a pedi rehab specialist (love her!) and to get into therapy asap. We chose Early Childhood Intervention and have had a good experience.
We spent the next year seeing specialists, doing blood work, labs, EMG, MRI, CAT Scan, spinal tap and 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.
Will at 2 year old
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 came back 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. From there, 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's Syndrome. Specifically, a genetic mutation point 9176 T>C. There is no cure, there are no treatments. We were told it's unlikely he will live to see his teenage years. The disease is progressive. 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 and so on... I want to vomit just writing this.
How did this happen? We know that Will's form of Leigh's is a mutation from the egg. My egg. The science behind all this is complex. Me, my mom and two sisters have all tested positive as being carriers of this mutation. If you want more on this subject, read this post.
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 seen positive 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 may 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 knows at least 500words and can recall random things like who gave him a book and so on.
-He started on IGG infusions, Hizentra, in October 2012. This has been instrumental and life changing for Will. He hasn't even had snot or a cough since starting and his energy seems to be better with it.
-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 --- 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. We hope to raise awareness, money and support for a cure.
Mommy, Will and Daddy - September 2011
"Live your life with arms wide openToday is where your book begins
The rest is still unwritten..."
(I'm not some huge fan of her, just love this piece of the song as a closer)
*If you happen across our blog and are searching for answers about your own child and a possible mito diagnosis you are welcome to email me at firstname.lastname@example.org. During our year medical journey I would scour people's websites for some ray of hope or light into what might be happening with Will. I'm not a doctor and have NO professional training. HUGE disclaimer here I am in no way giving medical advice, just compassion for what you're going through and any resources I have come across. Pay it forward. You should ALWAYS consult your doctor before making any changes in your child's care.