General
🌟 Feb 28th is Rare Disease Day! 🌟
Updated January 24, 2023
in General
Did you have (do you have) a rare disease? Share your stories and raise awareness! #MoreYouKnow #ShareYourStripes
1 - 14 of 14 Replies
Transplant Patient
I do! I was transplanted for Glycogen Storage Disease, which is a rare disease where the liver is missing the enzyme needed to turn glycogen into glucose. My transplanted liver obviously has that enzyme, so i’m no longer symptomatic but I am still considered as having glycogen storage disease, just treated through transplantation
Congratulations to you. So glad u r doing well. So many liver diseases that transplant can indeed help. So interesting.
Well, I don't have a rare disease but my son does. That's what led to us being a part of the liver transplant world. He was born with Biliary Atresia which basically means he was born without a functioning liver that only became worse after birth, shrivaling up his gall bladder and leading to the bile not being able to drain from his liver. It's so sad to see those little guys have to fight through illness and disease so early in life.
Transplant Patient
Thank you for sharing, @AliEm14 & @authenticallyapril 👍 Best of luck!
I'm sure there are so many others on this forum who are dealing with a rare disease/condition. Maybe others will share & help connect with those who can relate.
Our Governor has already issued a Proclamation for Rare Disease Day, and I attend meetings of our Rare Disease Advisory Council. My version of kidney failure is extraordinarily rare. Only 7 people in a million have FSGS based kidney failure; maybe 2500 people in all have genetically based FSGS - and of those, only 5% are due to the failure of the ACTN4 gene. So perhaps 40 or so people in the US have what I have. I feel so special!
@Pablo wow! Thanks for bringing awareness to your rare disease. I hope all diseases can get the attention they deserve to help us lead a more normal life.
Transplant Patient
I was diagnosed with Alport Syndrome, a rare disease that affects the basement membrane of eyes, ears, and kidneys. Many people with Alport Syndrome end up with hearing loss and vision loss. Thankfully, mine is isolated to my kidneys.
Transplant Patient
@Pablo - it's so cool that your Governor issued a Proclamation 👍
Wear & share your Stripes!
#ShareYourSripes ✔️
Hi Pablo. Yes it is, u r special😊
Transplant Patient
@Shelbycreates - thank you for sharing. Glad to hear that only the kidney is impacted in your case. 🤞
Transplant Patient
Awesome @Pablo - thank you do much for sharing the Proclamation!!
Transplant Patient
Today (Feb 28th) is designated as Rare Disease Day! If you have a rare disease, 'Share Your Stripes' with this community. The more awareness, the better!
I had HELLP Syndrome a disease that affects approximately 0.06% of all pregnancies and it is what caused my kidneys to fail.