Saturday, 2 July 2016
Fragile X Awareness Month - Day 2
Rosemarie is a woman in her 60's with Premutation Fragile X. She is diagnosed with FXTAS. Fragile X–associated tremor/ataxia syndrome (FXTAS) is an “adult onset” neurodegenerative disorder that can affect people with Premutation Fragile X.
Rosemarie (who we call mum) was a helicopter pilot. She had a successful career that spanned 30 years and included starting and running her own helicopter business. In her 50's things started to change. She needed to retire from flying, she started to get more frail, less able to make her own decisions. We didn't put the pieces together until Connor was diagnosed. It still took a few years to convince her to get tested, but finally she started to get worried and went to a doctor. The test came back and the doctor gave her the all clear.
Thankfully by this time my sister and I were able to read pathology reports and we knew the truth.