Thoughts and prayers for Blake
My nephew, Blake, who just turned 2, was diagnosed with cerebral palsy about a year ago. As he got a little older, though, he started having some other symptoms that didn't quite fit with CP. They started doing more testing, including genetic testing, and as of today, he was officially diagnosed with Potocki-Lupski syndrome (PTLS). This disease is so rare that there's not a lot of info on it, and what there is isn't good. (Seriously: if you're bored, try to do a search and see what you find. Other than the Baylor U. site, there ain't a whole hell of a lot.) While "fewer than 50 persons...have been described in the medical literature," they now predict that roughly 1 in 20,000 have it--they just never had a name for it before. According to my sister, 50% of those with PTLS have some degree of heart defect and/or kidney problems. (In all seriousness: it's a good thing I saved my kidney.) In fact, the next tests are an echocardigram to check the structure of his heart and a renal ultrasound to check his kidney function.
Katey is pretty shaken up. I'm trying not to be, as we don't know for sure what this all means yet. Either way, please keep Blake in your prayers. He's been through SO many tests, trials and struggles in just 2 years, and it looks like that was only the beginning.