The story of Emma
My son Jacob was a textbook kid. Completely normal pregnancy and birth, hit the mile stones at the right time, was the most fun, adventurous, afraid of nothing kid… until he turned 3. It started off with Jacob bumping into things, he seemed to have a lack of spacial awareness and was clumsy but what three year old isn’t? We were getting weekly, if not daily, incident reports from daycare, including an escape to go get trucks to honk. Jacob not only was accident prone but now he was lacking impulse control. He started losing his vocabulary, withdrew from friends, and regressed in potty training which we mastered for about a month. At this time also Jacob was also being tripped up by shadows and if you handed him something he would have to search with his fingers in your hand to find it, he had lost a lot of his vision. We thought Jacob was on the spectrum but in talking with the psychologist and her noticing all these regressions and vision changes she sent us to a neurologist. After Jacob made her worried by throwing up in her office, and a three day stay at the children’s hospital for a CT scan, MRI and blood work, the CT showed Jacobs brain was smaller than the average kid his age, a MRI showed patches of brain damage all over and the bloodwork that had been sent for genetic testing came back in a couple months to say Jacob had CLN1 Batten Disease. Getting a diagnoses like Batten disease is a very strange situation. As a parent you are told your child has this condition, not only have they lost skills but they’re going to go blind, eventually they are going to have seizures, become nonverbal,
Not be able to coordinate movements, and eventually they will die…. And there’s nothing you can do. Currently Jacob has lost his vision, is nonverbal, he is a full time wheelchair user, has a gtube to eat, and has started having seizures regularly. Our goal is always quality of life for him and as long as we can still occasionally get a giggle from him we are ok.