Cobalamin C

My name is Victoria, my brother Peter is 23 years old and has MMA CblC. He was diagnosed at 2 and a half years old through bloodwork. My parents kept questioning about his vision. His neurologist had given a blood slip and she didn’t think he had a disorder, but she said just in case she wanted to do the bloodwork. He had the blood work done, and sure enough he had it. Then, they sent out a sample of his skin to see what exact type he had, which is CblC.

Peter Cblc

If you look at Peter you wouldn't know that he has this disorder because he is always smiling, laughing, and so incredibly happy. He enjoys life every day and is an inspiration to many including me, his little sister. Sometimes my family and I feel bad for Peter because he is 23 and he could have graduated from college or been part of a sports team and instead he has this disorder that prevents him from doing so. However, every time we feel that way we always say "Look at Peter, he's smiling and he is happy. That's all that matters." This disorder affected our lives because we think of all the things he could be doing. We can't just get up and go on vacation for the day or get up and go anywhere as other families could. We try our best and make the best of it. In the beginning, my parents were more paranoid and nervous because this was a rare and very new disorder at the time; most doctors didn't even know about it. Now, at 23 years old you never truly get the hang of it but Peter is happy, healthy, and that is all that matters.


Added September 2021