William “Will” Patrick Martin was born on April 24, 2009, and he was diagnosed with Leigh’s Syndrome on July 5, 2011. This diagnosis forever changed the lives of his parents, Lori and Neil Martin, as well as their family and friends.
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 well baby checkup in April 2010, our pediatrician checked Will’s legs and muscles out 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 was very little improvement.
Then, our pediatrician referred us to a pediatric rehab specialist to get into therapy as soon as possible. We chose Early Childhood Intervention and had a good experience.
We spent the next year seeing specialists and doing blood work, labs, an EMG, an MRI, a CAT Scan, a 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 and 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. 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. We 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 Disease. There is no cure, and 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. In fact, in just a year and a half, the lesions on his brain are no longer there because that brain matter has died.
How did this happen to Will? We know that Will’s form of Leigh’s is a mutation from his mother’s egg. The science behind all this is complex, but no one would have ever known or suspected anything based on his parents genetics.
We are sharing Will’s story of Leigh’s Disease through this non-profit organization in hopes of building more awareness of Leigh’s Disease and raising money to help fund clinical research on Leigh’s Disease and mitochondrial disorders in hopes of finding a treatment or cure.
We need more research to find a cure.