(As told by his parents, Don and Dawn)
Jake is ten years old and the youngest of our three boys. At just two months of age Jake had a life-threatening pneumonia. The severity and quickness with which it came were our first sign that he might bring us different challenges than his older brothers, Aidan (15), and Brendan (13).
Over time we came to realize that Jake had many more issues, including severe mental and physical delays. Jake can’t walk, talk or even crawl, although, he is excellent at rolling. After watching him lie calmly in one spot for an hour, you could leave the room for a second, only to come back to find him getting into mischief ten feet away. So, in many ways he is not unlike his brothers and other “typical” children.
We spent years looking for a correct diagnosis. Muscular dystrophies, Leukodystrophies, Mitochondrial Disease, and many other myelin diseases were considered over the years. Along the way we also learned that Jake had three other rare diseases: Glycerol Kinase Deficiency which means he has trouble breaking down fats and needs to be on a low-fat diet; Retinitis Pigmentosa, which means that he has very poor vision; and Aggressive Ossifying Fibroma which is a benign tumor in his jaw. He has needed two surgeries to remove the extra bone from his mouth in order to maintain an airway. Jake also has moderate hearing loss.
In December, 2015 we finally received Jake’s genetic testing results. We learned that Jake also has an issue with his FIG4 gene—the gene that causes CMT4J. It was nice to finally have a diagnosis that accounts for some of Jake’s challenges. We have since been able to visit CMT4J experts several times, who feel that the gene therapy being developed by the CureCMT4J researchers could help Jake.
Despite all of his medical issues, Jake is a happy, wonderful boy. He has a quick smile and an infectious giggle. Once he gets going he will laugh so hard that he needs a break to breathe. One of the things he loves the most are his grandparents, who are always able to get those giggles out of him. He loves to give hugs. He loves reading books and swimming. He loves all things related to Sesame Street. He especially loves his two older brothers. He is almost always in a good mood. He enjoys almost any attention you might offer and returns it with great affection. He also loves music and singing. His singing doesn’t contain any words and he only sings about five to seven notes at a time, but he has excellent pitch and rhythm. Jake loves a party and will always join in and laugh with everyone else.
Jake is able to have some mobility by using a walker (with full harness) with some assistance. We are very excited that Jake now has a communication device. By using his eyes, he is now able to tell us things. He answers yes and no questions, he plays games, he says “good morning” and “I love you!”
We are very excited about the chance to help Cure CMT4J move forward toward a cure.
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