Fragile X

Time ran a piece last year on a wonderful, loving family pulled even closer together by Fragile X syndrome. The article is interesting in part because it shows how one astute physician can notice a pattern and push genetic disease research forward by huge leaps.

There’s a lot of recent information on this disease, and the research into Fragile X is at the forefront of our understanding of autism. Carriers of the genetic difference are also subject to a host of medical issues that trouble families who don’t even know they carry the gene.

Look into it. Get involved. Support research.

4 thoughts on “Fragile X

  1. Brain is spinning here, reading this. Dad’s hands tremor so badly that his handwriting is almost unintelligible. My hands tremor badly enough that my kids remark on them on bad days, and won’t let me cut their fingernails….what it I’d had boys?

    Thanks for this…I think I have a lot of reading ahead of me.

  2. Thanks for posting this! I had missed it. My 2-month-old son was born with a rare genetic disorder (Cri du Chat, which is even rarer than Fragile X – 1 in 50,000) that will result in moderate to severe developmental disability, and we’re frantically trying to read everything about families who have gone through something similar. Good to hear some positive stories!

    • TKW, tremors are so scary and there are so many things can cause them. Glad to know that the Fragile X info might give you more to tak about with your doc, or more research to look into.

      Elizabeth, your post on is so moving, and I’m glad you have started the catscry blog so you can get more support. The family in the Time article is amazing…the most positive people I’ve ever met. They’re advocates for research and medical treatment, educational changes, and government awareness and support. They’ve dedicated their lives to help families who have children with developmental issues, and I can help you get in touch with them if you’d like.

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