Does Anyone Have Familial Dysautonomia?

[alijames]

HI

I was recently diagnosed with familial dysautonomia by Dr Roy Freeman at Beth Israel.

I was first seen by him for POTS/tachycardia in 2000 but when back again in 2013. It took

me one year to get the appointment!

The thing is-- I am not an Ashkenazi Jew from E. Europe. On the interent, the articles

make it sound like this for of dysautonomia is only for that genetic group. On the other

hand, it also says it is the most common genetic form in the US.

He just put this in a letter to my cardiologist in Maine. That's how I found out.

I also have cerebellar ataxia. And wonder if it's the overlap of these two nasty conditions

that is why my dx is so hard. I've been sick now for 20 YEARS!

Thanks!

alice

[corina]

Hi Alice, welcome to the forum. I don't have any answers for you but hope somebody else may! I'm very sorry you've been struggling for so long.

[NaomiSpellman]

I was recently diagnosed with familial dysautonomia by Dr Roy Freeman at Beth Israel.

I was first seen by him for POTS/tachycardia in 2000 but when back again in 2013. It took

me one year to get the appointment!

The thing is-- I am not an Ashkenazi Jew from E. Europe.

How did he diagnose you? Did you get a DNA test to confirm this? I have had lifelong autonomic problems, some of which were chronic when I was very small and are now returning over 40 years later. Among my mother's siblings, all of them - save for one - have autoimmune diseases. This can't be a coincidence, can it?!! I am not Ashkenazie Jew either, but now i am wondering if I should get tested for Familial Dysauto. Thank you for any advice you can give re: diagnosis.

Definitely being comorbid makes it so hard to diagnosis - even to get someone to listen is so difficult.