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We received Oliver’s diagnoses when he turned 2. I, his mom, didn’t settle for global delay, optic nerve hypoplasia, hearing impairment, etc. I knew there had to be a larger diagnoses. We got the exome testing done when that revealed the PKS diagnoses. It’s definitely challenging. The big maybes I think are the hardest. He MAY go blind. He MAY go deaf. He MAY never walk. He MAY never talk. It’s so challenging but I will say it got easier when we learned about CHOP and moved to PA to get him the resources he needs.
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