Jonny's
Story

Jonny was diagnosed in 2013 after an extensive few years of new and complicated medical issues, hospital stays, and surgery. He had had genetic testing done earlier, but this was a deeper dive into his genetics. Jonny has CP, Intractable seizures, Dandy-Walker Variant, Hydrocephalus, Dopa Responsive Dystonia, Parkinsonism, Developmental Delay, and Tubb3. We didn't know anything was happening with Jonathan at birth, but at about six months old, he was very floppy and hypotonic and had been born with a cataract. He was diagnosed with Dandy-Walker variant at about a year old and then developed seizures around two and a half years of age. He didn't start walking on his own until about six and began talking around 5 - he was always a delightful boy and now a man. His personality is infectious, and he is a complete people-pleaser! At 9.5, his first catastrophic seizure took several hours to stop. For the next 6 years, we dealt with horrible seizures that would strip him of his language and skill, and he would lose himself then. He always would regain his ability to walk and talk again, much to the beautiful surprise of us and the people around us. He never complained about his pain, or issues or inability to do things when those periods happened. At age 14 he had a VNS implant put in to help with the seizures and it did. We seemed to hit a bit of a lull in his health and he charged into high school walking, he was toilet-trained, and interactive in every way. The high school had an excellent peer tutor program that enabled Jonny to do many amazing things. He attended 4 proms and was able to graduate with the high school. We have video of Jonny running on the beach with a kite in hand with his class and then just a few short months later, he had a surgery on his forehead and never got up again to walk. This was right before his senior year and he was 17. In October of that year he had a pretty minor seizure but was admitted to the hospital and didn't leave for over three months. It was his first helicopter transfer to UCSF, he had a whole new team of doctors that didn't have any idea what was going on and after many tests and several surgeries in December of that year they discovered through an exploratory surgery that he needed a shunt. This hospital stay and everything that happened left us with a shell of the young man he once was. We had to get used to a new normal and although it looked so different we were just grateful he was alive. He missed his true senior year of high school but in the spring of that year I started bringing him for a few hours a day twice a week. He graduated that year, was a homecoming prince and more. The following year things got worse than ever, and more helicopter trips to Stanford hospital, where he was even so bad that we were planning on taking him off of life support. God raised him up from death again, and with this new Dopa Responsive Dystonia diagnosis and the medicine given , we got so much of him back and better. It was also during this time that he was diagnosed with Tubb3. So little was known about it in 2013, even less than now. He does have eye issues. His cataract was removed, and he has 6 muscle surgeries, with all the lack of oxygen and issues he had, his eyes did change colors from green to brown. His optic nerves are not as healthy as they once were, but he is doing great. All of this is bonus life and time with him. Jonny doesn't feel sorry for himself, and doesn't let his abilities stop his desire and drive to live the best he can. He loves music, drums, guitars, bass, bands, football, and all other sports, he loves to spend time with people, he loves to draw and so much more. He has lived a blessed life and continues to be a blessing!