I have a rare disease, ama!

amother

Tue, Oct 03 2023, 11:23 pm

according to the CDC I have a rare disease, about 2,000 newly diagnosed patients in the US each year.

I will not share the name of the condition, and I reserve the right to skip a question that I am uncomfortable answering, but don't let that stop you Smile

amother

Tue, Oct 03 2023, 11:26 pm

groisamomma wrote:

Do your children know?

yes. they know because they see me suffer with it and they know because there is a very slight chance it might be hereditary (although this is so rare that the specialists aren't sure).

amother

Apricot

Tue, Oct 03 2023, 11:27 pm

As someone with a one in a million condition, I have lots of questions. Did you join any clinical trials? How did they identify your condition if it's so rare? How long did it take to get a definitive diagnosis? Do you network with others with same condition? How did you find doctors familiar with your dx?

amother

Tue, Oct 03 2023, 11:32 pm

amother Apricot wrote:

good questions!

I went to a number of doctors, and sadly they jumped to a mental health diagnosis. It delayed diagnosis by about 20 years and affected the way I saw myself. But it got worse and I knew it was physical. I realized I didn't fit the boxes and decided I would have to get in with the head of the appropriate department at a nearby teaching hospital. They picked up on it right away and did the tests needed to confirm.

I didn't find anyone who has the same condition. It's incredibly rare. Most doctors never see this one. No one to network with. No clinicial trials.

I ended up needing surgery, and I looked for the surgeons who teach other surgeons how to operate for this condition, and then went to the top one for the surgery. Since this is such a rare condition, and the surgery was serious, I couldn't see a generalist or someone without enough experience.

amother

Tue, Oct 03 2023, 11:36 pm

GLUE wrote:

How many years and DR. did it take until you got a diagnose?

about 20 years. I couldn't count the doctors, I brought up the symptoms with a pediatrician who called me a hypochondriac, and after that it took another 10+ years of me seeing it get worse and worse to work up the courage to try again. I remember at least 3 PCP's brushing it off as anxiety, and one specialist too. I saw many other specialists who misdiagnosed it, both as outpatient and inpatient in the 10 years leading up to the diagnosis.

amother

Tue, Oct 03 2023, 11:59 pm

amother Diamond wrote:

What kind of symptoms does the disease have? Do they get progressively?

I can't describe it without outing myself, but it's very painful, it does get worse, and the surgeon said I'll probably need more surgery. I try not to think about it and daven that I'm done with surgery.

amother

Snowflake

Wed, Oct 04 2023, 8:40 pm

Did you try Facebook? Me, my husband, and one of my kids each have a different rare disease. Facebook groups are the only place I can find information and support. I opened my account specifically for this purpose.

amother

Diamond

Wed, Oct 04 2023, 9:11 pm

amother OP wrote:

Wow! I'm sorry to hear.
I hope you can have a refuah shlaima with no more surgeries!