Sharing is Caring?

I recently went to a girls night and met a woman- a new friend.

Often times in my conversations with others, Fragile X Syndrome comes up.

Go figure.

Well, I just happened to bring up something called FXTAS. If you haven't heard of FXS, than you definitely haven't heard of FXTAS. It is a synonym for Fragile X Tremor Ataxia Syndrome. Basically, to sum it up, around 50-60 years of age, carriers of FXS, like me, are at risk for FXTAS. It happens more in male carriers, but it has been documented in females.

As I started talking about symptoms of FXTAS, such as dementia/Alzheimer's-type symptoms, tremors similar to Parkinson's, etc. the woman I was talking to started writing down notes, her eyes wide and almost in tears.

She told me she thinks her husband has FXTAS.

He has all the symptoms.

It was weird delivering such news. Yes, it is good to find answers, but it's hard when it's just not what you want to hear. I felt sad and happy. I felt bad, but then I felt good.

Then, of course, I had to ask if she had daughters and if they had symptoms of depression and anxiety. I told her if he has FXTAS, her daughters are carriers, too. I then told her of FXPOI, which is Fragile X Premature Ovarian Insufficiency. Basically, it is premature menopause. I like to call it nature's way of stopping the spread of FXS. But, obviously it doesn't always work;)

Whenever people ask me what the difference between FXS and autism is, one thing I say is that it is genetic and affects families across generations and, unlike many genetic disorders, it directly affects carriers.

To find out more about FXS, FXTAS, or FXPOI, check out fragilex.org