Thursday, May 3, 2007

Fragile what?

I am still amazed that I lived 30+ yrs before I ever heard of Fragile X. My brother and I both have the full mutation, and my mom is a carrier. Scott is severely affected, and mom and I both struggle with the shyness and anxiety that are common in female carriers of FX.
The first time I read about it,(when they were testing my son for it) I knew it was our answer. It explained so much in our family - described Scott perfectly, as well as the shyness in my mom and I, the flat feet, ear infections, and the early menopause my mom experienced. Why had we never heard of it?
Why have so many people never heard of it? Even doctors, when I mention it to them, don't know what it is. It is the most common inherited cause of cognitive impairment, and the most common known cause of autism. 1 in 200-300(the number varies depending on who you talk to) women are carriers. When will the day come when we don't get the response "fragile what?'

*sigh*

3 comments:

the other lion said...

Hi. I found your site through another blogger (who found my site). I also have a full mutation, and so does my son. I am so thankful every day that I was able to have him tested when he was only a month old. I must say I love the title of your blog--my mom (a carrier) and I always look at each other when my son is being himself and say "welcome to Holland." I remember bringing it up to one of my OBs when I was pregnant, and he said, "Well, those are generally things we test for once the child is in school and having some significant difficulties." I wish he would have just been honest and said, "I have no idea what you are talking about" like everyone else does!

the other lion said...

Oh-my blog is www.theotherlion.blogspot.com

Kristiem10 said...

Leanne,

Hi! I just found your blog! We had dinner with you at Ruth's Chris Steakhouse in Atlanta. My sister is the one who called you Leanne Rhimes and Tim McGraw. I was the "quiet one". lol. I usually am the quiet one. I just thought I'd say hello and I am going to bookmark your blog to keep up to date with you.

Take Care,

Kristie