I envy ALS and its icy advocates
gasp....
WTF did this chick just say??? I AM IN NO WAY SAYING ALS IS NOT A GREAT CAUSE TO DONATE TO OR SPREAD AWARENESS FOR.
BECAUSE IT IS.
ALS is a heart breaking awful disease that we need to find a cure for. That much is unquestionable. But I'm jealous. Let me try and explain myself. Im going to back up a bit here.
Do you know what an orphan disease is? Because I know I didn't.
Until my chid was diagnosed with one.
An orphan disease is a disease that the medical community as a whole has turned their backs on. Pontocerabellar hypoplasia and CASK gene mutation/deletion are so rare that really none is even trying to research them. Let alone find a cure.
I have really LOVED watching everyone come together to get some exposure and some money for an amazing cause. I wish with my entire being that I could start something similar to this for our children. But what would be the point? There is no place to donate to . There is nobody trying to figure this out. One mom started a dance challenge in honor of rett syndrome and the hope that our kids will someday dance. I have been tagged and will make a silly video with sophia soon. Because I'm all for spreading awareness of any kind. But I'm Sad i can't start a PCH challenge that will make an impact on the face of the disease.
Between those of us with children impacted with PCH and CASK we have managed to find a hand full of clinics and researchers who are making small moves on an individual basis. Trying to drum up some interest in the international medical community. But As a whole there is no "find a cure" movement for our children. and its heartbreaking.
Her nuro-genetics doctor told me on the day she was diagnosed that even SHE couldn't find anyone who was leading the reaserch . So i don't have any major revelations on this one folks. Im still working on finding the silver lining to this particular rain cloud in my conscience. But I just wanted to let you guys know.
So that is why I'm jealous of ALS and all the ice bucket victems around the country. Because if I could I would think up some equally cool challenge and start a viral sensation of my own.
Maybe I still will. Bur as usual i search for ways to make PCH and CASK relevant in the lives of the unaffected. That is my personal struggle.
I LOVED watching you guys all go crazy drowning yourselves with ice cold water. good times. but every smile I get from it also makes me a little sad.
I just wanted to share that I hope I can challenge you all someday.
