Roberta C

I am the mother of a child with SCA (type 14). My daughter who is now 12 had her first symptom when she was 5. She had a vision through her school and had failed it. What was so unusual about that was she had her annual exam with her doctor just a month before and had 20/25 vision. As it turned out she had developed a nystagmus. After that the rush was on to find the purpose of the nystagmus. MRI’s, blood test etc. We could not find the answer to this question. We knew it wasn’t a tumor or cancer, but what was causing it nobody knew. Sometime later she failed a hearing test. She had always been a clumsy kid, but things were getting worse in that area too. It was a mystery. It’s one thing when it’s you and you’re afraid of the unknown, but when it’s your child it completely hard not to go to the scary place. Eventually we ended up at Children Hospital Los Angeles and had genetic tests done. Finally after 4 years we had our answers. Spinocerebellar Ataxia (type 14). She’s 12 now and spends most of her time in a wheelchair and has only 40% of her hearing left. A few years ago she started having trouble swallowing, but she’s a superhero and has a good life. Very different from what I had originally planned but it’s a good it’s a happy life filled with PT/OT, doctors, nutritionist and others.