Fragile X Journey


#1

HI There! i am on a journey now to find out if my kids have fragile x. I have 2 kids with developmental delays. Hypotonia (Low muscle tone), joint laxity, flat feet, sensory integration disorder, behavior issues, autistic tendencies.

one child also had infantile spasms when he was afew month old. the other child just has a punctate cyst on his right hipocampus and his right hipocampus is smaller than the left. but the doctor is not concerned regarding the cyst.

i went to a big pediatrition and somehow the doctor slipped with the word fragile x and looked it up and my kids seem to match that category.

i have an appointment to do genetic testing.

i need support.


#2

I will be out of the office Nov. 12-16 at the Enterprise Community Conference. I will be checking my emails at least once each day. If this is an emergency, please leave a voice mail at 410.772.2746. I will be checking voice mail more often. Otherwise, I will repsond to your request upon my return on Nov. 19.

Have a wonderful day!


#3

The blood test takes less than 2 weeks to come back. I have a 5 year old with Fragile X that is nonverbal but is a typical kindergarten class with an aide. he knows his alphabet and numbers to 20, he has about 20 site words and appears to be reading little books. He is a joy to have around. good luck with your search.

Mary Peterson-Suri MD
910-639-5941
http://averyboiko.tripod.com
http://myspace.com/the_suri_family

----- Original Message ----
From: stnbroth fragilex-cpt6811@lists.careplace.com
To: momofalexi@yahoo.com
Sent: Sunday, November 18, 2007 2:27:48 AM
Subject: [fragilex] Fragile X Journey


#4

It’s probably a little late for this, but just wanted to put in my two cents. I have two nephews with Fragile X. They are 24 and 25. They were diagnosed when they were toddlers. I know it was extremely hard on my sister at the time. I’m a carrier, and have recently been married and am struggling right now with trying to figure out how to, and whether I even should, have children. My sister, however, has suggested that I just go for it, and if I have Fragile X children, then oh well. So, the fact that she has such a relaxed attitude towards having mentally disabled children is an indication, to me, that even if your children do have it, it will be difficult, but eventually you’ll accept it, and it won’t be that big a deal.

The boys are both doing well. The younger one is severely more affected than the older one. He’s about on the mental, emotional and learning level of a four year old. The older one almost seems normal in some ways, though when you speak with him it’s clear that he is mentally disabled. They both lack muscle tone, and they’re HUGE, which is probably more because their parents are both big, tall people. So, it’s kind of funny sometimes, because you’ve got these GIANT boys just trundling around. People stare, and it ticks me off, but sometimes you just have to laugh it off.

The younger one can be really socially unacceptable at times, but your control over the situation is really limited. That’s probably one of the most difficult things. If his mind is set on something, or he’s behaving in a certain way, you have to pretty much either let it go, or very calmly try to redirect him. If you start getting flustered or angry, he’ll make an even bigger scene, which is particularly challenging since he’s so large.

Then sometimes it results in comedic gold, like the time he did a double barrel flick-off to the assembled audience at a Special Olympics awards ceremony. He thought he was getting the gold medal, but for some reason he got the bronze instead. He was just standing up there, flicking everyone off and cursing and spitting. At the time we were pretty embarrassed, but in hindsight it was really funny.

So I guess my advice to you is during this difficult time, you’re just going to have to put one foot in front of the other. Try not to dwell too much on the unfairness of it all and eventually you’ll come to accept it. It’s just going to become part of the fabric of your life. My sister still enjoys her life, and she loves her boys.


#5

Thanks for everyone who replied.

I am having my genetic testing appointment next week, please wish me luck!!!


#6

Hi Everyone

The testing is back my oldest son does not have fragile x but my younger one does.

if there is any information that is available i would really appreciate it.

what is there to do and so forth.


#7

That was supposed to be

www.fragileX.org and www.fraxa.org sorry

Mary Peterson-Suri MD

----- Original Message ----
From: momofvirtualOItwins fragilex-cpt6811@lists.careplace.com
To: momofalexi@yahoo.com
Sent: Tuesday, February 12, 2008 10:40:33 PM
Subject: Re: [fragilex] Fragile X Journey


#8

I would go to the fragile x sites and read them from top to bottom. Knowledge builds power. fragileX.org is the main support organization and is planning on having a conference for researchers and familys in July 2008 in St Louis MO. This would be a great source of information and social support. The FRAZA.org site is the fragile X research site. here you can read up on all the new research and read about how they ahve cured Fragile X in the fly and mice model. They know of 2 receptors that if blocked may be able to cure or at least alleviate symptoms and now are trying to find drugs that will act to achieve this chemically.

The symptoms of Fragile X are important to treat as well. Anxiety is a very common disorder in fraigile x boys and can be devastating. My son appeared autistic he had so much anxiety but when treated with Prozac (Drug used to treat anxiety in children) he opened up and blossomed and made a 2 year developmental gain in 6 months. he no longer flaps or bites his hands and he is in a typical kindergarten class with fairly good behavior.

There also 2 fragile X listservs on yahoo as well.

Do you have Fragile X or are you a carrier?

good luck,

mary


#9

I will be out of the office Feb. 12. I will not have access to email, but will be checking my voice mail periodically. If this is an emergency, please call 410.772.3053.

Have a wonderful day!