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.
Amen! My son Noah is 17 months old..which I tend to forget seeing as how we have been in the hospital for just under 2 months now. I write this as I lye in my son's hospital bed..listening to our new normal..life on a vent. Noah was diagnosed with PCH when he was about 3 months old along with many other complex medical issues. We ended up in the hospital because of a common cold virus that turned into viral bacterial pneumonia. Prior to noah being admitted he was only on a wiff of oxygen. His left lung collapsed completely and here we are 7 weeks later trying to get it to recover the only way we new how...putting him on a vent so he could breathe easier. Who knows maybe he wont need it forever..but its going to get him home where he belongs..with his family.Bless you for writing this for our children the ones that the world don't know about..and with the label as special needs the ones the world forgot about. Xxxx
ReplyDeleteThank you so much !!! I'm so glad to hear that I'm hitting the nail on the head . I'm also very glad to hear Noah's going home soon . The silver lining is that this "new normal" comes with an amazing support group of equally amazing and exhausted parents . Xoxo - we are in this together mama.
DeleteIn order to join forces
ReplyDeleteFor all those parents with children that have cask mutations.
Access to a parents/patients group can be requested via caskmutation@gmail.com.
Krystal, you are allready a member ;-)