Re: PWS present truly at birth?
Thanks for this, Rhonda.
At this stage, our focus (worry) is Sturge-Weber. It's difficult being away from resources at home and having to wait until we can get the MRI, etc. Our daughter's mark is relatively large, but stops about a half-inch from her eyebrow, so we're hoping there's no effect on her eye. On the top, it goes quite far up, close to her crown. It's a difficult situation to be in. Knowing that she is already a 1-in-300 for PWS, it doesn't seem that unlikely that she will be a further 1-in-8 or so PWS cases that also has SWS.
For the PWS, the thing on my mind now is balancing the "get started now" impulse with the fact that technology keeps getting better. Is it better to wait a few years before starting? If we start now, is there a chance that treatment(s) she gets today will negatively impact the treatments that might be available a few years down-the-road?