Nixon is 3.5 years old and lives in Upstate, New York. He loves his big sister, Hayden (who he shares a birthday with), music, and swimming. He also loves to read his books and throw all the balls out of his ball pit. He loves spinning and being upside down and walking with his walker. He also loves going to Florida. His therapists are some of his favorite people- He receives PT, OT, Feeding, Speech, Vision Therapy, Water Therapy, Special Instruction and will be starting Hippotherapy soon. He enjoys lots of cuddles with everyone he loves, and gives the best kisses ever!
Born in November of 2019, Nixon had us on our toes from the very start of his little life. Within 24 hours of birth, he began to struggle with keeping fluids down and became jaundiced. Our little fighter experienced so many heel pricks for bilirubin testing, as well as ultrasounds and being stuck in the light box for days on end while doctors worked to figure out what was going on with him. Finally, the doctors thought they had an answer for us- Biliary Atresia. They wanted to transfer Nixon to another hospital immediately, however we weren’t quite sure this was correct so we fought to stay local and were lucky enough to get a doctor familiar with this diagnosis to see him early the next morning. He knew immediately this was not what Nixon had, so we stayed put. Eventually we went home with a special light blanket to help keep Nixon’s jaundice down and after about a month his levels were stable enough that we could be done with the blanket. There was no answer to why Nixon was constipated and not filtering out the bilirubin causing him to be jaundiced.
About four to five months later, I began to notice Nixon was not meeting his milestones but because of COVID there wasn’t any way to get him evaluated through Early Intervention and get him services. At every well visit I mentioned our concerns about Nixon’s delays and were met many times with “he will do it when he is ready”. At eight months old, evaluations started back up again and Nixon passed his evaluation by just a few points which meant he did not qualify for services. I called back a month later and demanded another evaluation. AT 12 months old, Nixon was testing developmentally at the level of a 4-6 month old baby. I began to research things on my own and came upon Cerebral Palsy. It sounded a lot like Nixon so I called the doctor and took him in to discuss my concerns and they were brushed off at first. By the end of that visit I had convinced the doctor to send us to a Developmental Pediatrician and at 19 months old we had a CP diagnosis. We scheduled an MRI and got set up with many doctors, including a neurologist and soon we found out that Nixon also has damage to the white matter in his brain (PVL). We did a Cerebral Palsy gene panel that came back clear and we went on with our lives thinking this was it, we had our answer.
At 23 months old, Nixon caught RSV and had his first seizure- a febrile seizure. Shortly after this happened, I began to notice these little eye rolls and flutters he was doing so I mentioned them to the neurologist. She told me he was tired. I accepted that at first but as they increased in frequency I begged for an EEG and after a 24 hour EEG, found out he was having at least 4-5 seizures an hour. Nixon was diagnosed with Epilepsy at almost 2.5 years old prompting his neurologist to run an Epilepsy gene panel. After we received the results of Nixon’s panel, his neurologist wanted to run both parents' gene panels to help determine what Nixon could have going on. I resisted this at first but eventually we decided to do the testing and just before Nixon’s third birthday he was diagnosed with SYNGAP1.
Nixon works hard every day to overcome all of his diagnoses. He has Cerebral Palsy, Periventricular Leukomalacia, Cortical Visual Impairment, Hypotonia, Constipation, Global Delays, Epilepsy (generalized), SYNGAP1, and Transient Motor Tics. He doesn’t let any of this hold him back and as a family, we are very lucky to have a huge support system to help him live his best life.
We can use your help to raise awareness about SynGAP1.