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*
Welcome!
I need a new blog title, but waiting for inspiration. :) In the meantime, this is a blog about our family, having a child with Fragile X Syndrome, and just life in general.
Followers
Tim and the kids
Waiting for a parade at WDW.
The whole family plus a mouse!
We had an awesome time at Disney this year! Justin was on cloud nine meeting his favorite characters!
About Me
- Leanne
- Happily married 19 yrs to Mr Right. I'm a SAHM to my 12yr old drama queen, princess Lindsey and my 9 yr old little buddy Justin.
Justin and mommy
Uncle Scott
My brother Scott also has Fragile X, but was undiagnosed until a few years ago when Justin was diagnosed.
The Top Ten Things You Should Know About Fragile X Syndrome
By Mary Beth Langan and Sally Nantais
1. It’s genetic.
2. If a woman is a carrier, she has a 50/50 chance of passing it on to her son(s) or daughter(s). 1 in 100 to 200 women are carriers **.
3. If a man is a carrier he will pass it only to his daughter(s), and they will only be carriers. 1 in 800 men are carriers.
4. Fragile X Syndrome does not discriminate; it doesn’t care which ethnic group you belong to.
5. Fragile X Syndrome is a spectrum disorder. Symptoms may vary from mild learning disabilities (including shyness and social anxiety) to severe cognitive impairment (mental retardation).
6. Premature Ovarian Failure, more commonly known as early menopause, is a condition that affects 20-28% of the female FXS carrier population.
7. Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), discovered in 2001, is a neurological disorder that can involve tremors, balance irregularities, difficulty walking and dementia which sadly is often misdiagnosed as Parkinson's and/or Alzheimer’s. This condition is present in some older FXS carriers (typically after the age of fifty), usually in males but FXTAS can also affect female carriers.
8. There are minor physical traits noted in many persons with Fragile X Syndrome, but not in all. These are traits which may also be present within the typical population, nothing unique which would necessarily indicate FXS testing is necessary for your child.
9. When testing for Fragile X Syndrome (FXS), it is critical that the correct tests are ordered – the Fragile X DNA (Southern Blot) and PCR analysis. Inaccurate results occur far too often with the generic chromosomal panel. Test for FXS to obtain a diagnosis or to rule it out. If you don’t have what may be the correct diagnosis of FXS, then you will never be aware of improved treatments or the cure when it’s found.
10. Where to go for the most accurate and up-to-date information on fragile X syndrome:
www.fragileX.org, the National Fragile X Foundation
www.FRAXA.org, Fraxa Research Foundation
www.conquerFragileX.org, Conquer Fragile X Foundation
** American Academy of Family Physicians, News and Publications, Vol. 72/No. 1 (July 1, 2005) http://www.aafp.org/afp/20050701/111.html
Mary Beth Langan and Sally Nantais are both Fragile X Syndrome carriers; each has a son with Fragile X Syndrome. They can be contacted at mblangan@hotmail.com and sally_nada@juno.com
1. It’s genetic.
2. If a woman is a carrier, she has a 50/50 chance of passing it on to her son(s) or daughter(s). 1 in 100 to 200 women are carriers **.
3. If a man is a carrier he will pass it only to his daughter(s), and they will only be carriers. 1 in 800 men are carriers.
4. Fragile X Syndrome does not discriminate; it doesn’t care which ethnic group you belong to.
5. Fragile X Syndrome is a spectrum disorder. Symptoms may vary from mild learning disabilities (including shyness and social anxiety) to severe cognitive impairment (mental retardation).
6. Premature Ovarian Failure, more commonly known as early menopause, is a condition that affects 20-28% of the female FXS carrier population.
7. Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), discovered in 2001, is a neurological disorder that can involve tremors, balance irregularities, difficulty walking and dementia which sadly is often misdiagnosed as Parkinson's and/or Alzheimer’s. This condition is present in some older FXS carriers (typically after the age of fifty), usually in males but FXTAS can also affect female carriers.
8. There are minor physical traits noted in many persons with Fragile X Syndrome, but not in all. These are traits which may also be present within the typical population, nothing unique which would necessarily indicate FXS testing is necessary for your child.
9. When testing for Fragile X Syndrome (FXS), it is critical that the correct tests are ordered – the Fragile X DNA (Southern Blot) and PCR analysis. Inaccurate results occur far too often with the generic chromosomal panel. Test for FXS to obtain a diagnosis or to rule it out. If you don’t have what may be the correct diagnosis of FXS, then you will never be aware of improved treatments or the cure when it’s found.
10. Where to go for the most accurate and up-to-date information on fragile X syndrome:
www.fragileX.org, the National Fragile X Foundation
www.FRAXA.org, Fraxa Research Foundation
www.conquerFragileX.org, Conquer Fragile X Foundation
** American Academy of Family Physicians, News and Publications, Vol. 72/No. 1 (July 1, 2005) http://www.aafp.org/afp/20050701/111.html
Mary Beth Langan and Sally Nantais are both Fragile X Syndrome carriers; each has a son with Fragile X Syndrome. They can be contacted at mblangan@hotmail.com and sally_nada@juno.com
Awesome Fragile X related blogs
Lindsey and Justin
Christmas 06
3 comments:
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!
Oh-my blog is www.theotherlion.blogspot.com
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
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