My name is Aaron, and my wife Talia and I have a young son with an undiagnosed genetic condition. His condition has been loosely given the name of “cerebellar ataxia”, more of a generic diagnosis until something is actually found.
Elvis was born in October of 2012 on time with no complications. The first year of his life was as normal as any other child. He was full of energy and always giving so much love to those around him.
My father-in-law, Tom, created an online fundraiser to help us out. Within two weeks we had met out goal and had the money for his testing. We also recieved some generous contributions from The Citrus Heights Rotary Club, as well as the Mustache & Beard Social Club. We were able to get a couple of plugs with News10. And my parents who live overseas, through a huge bake sale and raised a lot of funds for us. It was an awesome feeling to literally see people helping out those in need, especially this day and age.
We started off the testing with a full Ataxia screen, checking for all SCAs. While waiting for the results of this test, that took 35 business day, we had a consultation with another Pediatric Neurologist at UCSF. He looked over Elvis’s dossier, he ran some blood samples to check for possible AT (ataxia telangiectasia). Those results had some concerning levels of alphafetal proteins and immunoglobulins. The results for the full Ataxia came back negative for any mutations. We then sent samples for the AT genetic test which also came back with no mutations.