Fragile X Awareness month - Day 15

If you want to find out more about FX you can go to the Fragile X Association of Australia website. I will be sharing our families story.

FXTAS was first discovered in 2001. Carriers had been noticing the onset of symptoms for quite some time, but it took some time to convince the medical fraternity to look into it. Once they did, they discovered carriers were being wrongly diagnosed with things like Parkinsons disease, senile dementia or Alzheimers disease.

It is important to have the correct diagnosis, some treatments for those diseases can be harmful to FXTAS sufferers and others are completely ineffective.

Rosemarie has continued to decline since she was diagnosed about 5 years ago. She is now in an aged care home (at the age of 64), she needs help with all aspects of her care and has difficulty remembering things and making decisions. She cannot walk for very long distances and is quite shaky on her feet.

It is quite a significant change from the woman she once was. A successful helicopter pilot, business owner and author.

http://fragilex.org.au/what-is-fragile-x/carriers/fxtas/ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904666/