How to get diagnosed?
Hello. I have a rare disease no one has heard of. I've tried to get into a rare disease clinic but they require a diagnosis. How do you get a diagnosis when nobody knows what you have? That's what experts are for but they won't see me. Was wondering if anybody had ever heard of this. I have a condition which causes my organs to grow out of control until they need to be removed. I have had two surgeries already. Now I have very hard, large masses in both sides of my abdomen. I'm concerned it may be my kidneys. I do not want to end up having transplants and being on drugs the rest of my life. If there is anybody out there who can help me get a diagnosis and maybe get help, I would be very grateful. I am an adult and I had to have my first surgery when I was 50 years old. Thank u.
Thank you. I emailed her so we'll see how it goes. I've been trying to find help for years, meanwhile losing organs! Sigh... LOL.
, oh goodness, I am sending positive energy into getting a response and some meaningful help. Please stay in touch and let us know how you're doing. - Warmly, Donna (Team Member)
Hi
, that's very scary! My first thought was FOP (Fibrodysplasia ossificans progressive or Stoneman's disease), but that is musculoskeletal, and doesn't affect organs. Have you reached out to raredisease.org? They have some information, resources, and clinics that may be able to help. - Warmly, Donna (Team Member) I tried to contact them but it wouldn't work. I think it was asking for a diagnosis on a required field and I don't have one. I looked for other contact info and didn't see an email or anything. If you know of any other way for me to contact them, I'd sure appreciate it. I've been looking for years and have never gotten an answer from even the few places I tried to reach. Seems hopeless... Thx1 , you can reach out for info to the NIH at nidcdinfo@nidcd.nih.gov, and Mary Dunkle is listed as a senior advisor, her email is mdunkle@rarediseases.org. I hope that helps! - Warmly, Donna (Team Member)
