Tomorrow, July 22nd, is Fragile X Awareness Day. I thought I’d take a minute to share what I wish the general public knew about Fragile X Syndrome.
- It exists.
- It may be in your family.
- You won’t know unless you’re tested.
- If you are planning to have a baby and you are offered genetic testing, you should ask about it. It isn’t a test a GYN will typically order.
I have a couple more things to add for those of you related to me on my maternal side (Coles, Gerrishes)
- It is in your family.
- There are 2 boys with the full mutation and at least 6 carriers spread through 5 generations.
- If your grandfather or grandmother was diagnosed with Parkinson’s (and I know some of them were) there’s a chance that it is (or was) Fragile X Associated Tremor/Ataxia Syndrome or FXTAS and you should be tested.
- You should be tested even if your kids don’t show any symptoms.
- You don’t want to wait until it shows up in your grandkids or great grandkids, it will rip your heart out.
- I can help you walk through the family tree if you are still not sure.
- I love you all 🙂