Welcome! Let's Get to Know Each Other.
We are glad you are here! Please introduce yourself and let us know which rare disease impacts your or your loved one's life.
Hello,
I'm new here. I found this website by googling rare diseases. I'm female, 30-years-old, and I was diagnosed with Alport's Syndrome about a year ago. So far, my treatment consists of two medications added onto my daily routine, but it doesn't cure me. It just slows the eventual kidney failure. My doctors are hoping that I won't require a kidney transplant or dialysis until my 50's.
For people who don't know, Alport's syndrome causes kidney failure, hearing loss of the higher frequency sounds, and eye problems. It happens due to a genetic mutation in collagen IV. I was fortunate that it only took me one year for my diagnosis, so it was caught early on.
If anyone has any questions or comments, feel free to ask me. 😀
Hi Tessa (?),
Welcome to the forum!~
I'm glad to learn that you're among those with a rare disease that were able to be diagnosed relatively quickly, and that there are meds to help slow the progression of the probable eventual need for dialysis or kidney transplant.Thank you for inviting others here to ask any questions and to share any comments they might have with you. Sharing our experiences with other patients going through similar journeys is so vitally important.
Hoping this finds you having a happy Monday,
Gina (Team Member)
Tested positive for myasthenia gravis in 2010. Have not tested positive since then. Still experience severe muscle weakness off and on. Some good days some bad days. Some good mornings some bad evenings or vice versa. Incredibly aggravating.
Hi
,
Thank you for sharing with us here.
Testing positive for something that explains your symptoms and then not testing positive again must be very frustrating for you. I know when I finally got diagnosed with Cystic Fibrosis, it was a great relief, as I was able to move forward with proper medications and treatments.
I hope that your docs are able to provide you with some sort of treatment to help with the your symptoms?
Fondly,
Gina, Team Member
Hello, I am Saber. I am 43 years old. I was suffering from Friedreich’s disease, ataxia. Its causes are psychological trauma. I have now recovered from the disease. Only mild scoliosis remains.
جينا ميلر Hello, Ataxia Friedreich is a rare disease for which there is no cure yet, but I have recovered from the disease through personal experiences. I want to share my story by examining it with a research doctor.
Hi, again, Saber 😀
Thanks for sharing again about your experience with the rare disease Ataxia Friedreich. Amazing that you feel you are fully recovered!Have you begun to look for a researcher to share about your success with?
Attaching a link for those unfamiliar with this rare disease:
https://www.hopkinsmedicine.org/health/conditions-and-diseases/friedreich-ataxiaGina (Team Member)
cardiac sarcoidosis
, that's scary and must be uncomfortable! Have they noticed that it has lessened over time? Have they been able to control the symptoms? - Warmly, Donna (Team Member)
