How do you know?


#1

We are foster parents to twins - a boy and girl. I started out just looking up about the large earlobes (bio dad also has). They boy also has learning disabilities and possibly add. I know there is genetic testing, but I am sure the doc would think we are nuts since we have only had them a month. Are there other ways to have a good idea if this is the diagnosis?


#2

It may depend on how old your foster children are. If they are babies, then you will need to look at developmental milestones… feeding, toileting, speech, walking… are the kids slow to reach these milestones if they are old enough…

My son was diagnosed at 21 months, after the age when he was supposed to be walking or talking. An isolated delay can be viewed as OK… but when the delays are global, then you need to have significant concerns.

If they are of school age, of course there will be much more than this that will be of concern. Typically Fragile X children will ‘flap’ in excitment or over stimulation. they also can speak in a lilting sort of singing voice… I am not sure how to describe this, so someone else may be able to give a better explanation. Some Fragile X children struggle around relationships, and are very shy, so don’t give eye contact, turn away and mumble when they speak… Some kids may exhibit fixations on particular subjects, toys or TV programs. A lot of Fragile X kids spin the wheels of their toys… Of course this list is not absolute and not every Fragile X child will exhibit all of these symptoms.

The diagnosis, in reality, won’t change much. Just give a framework in which to view the delays. Early intervention is a priority. It also gives a loose prediction about what to expect from the children as they grow older.

The most important thing is, if you are concerned, that you talk to your local doctor about it. Take some literature about Fragile X, to help you explain your concerns and also to explain to the doctor what Fragile X is. The test is a simple blood test, but it is important to ask for a DNA test, not a cytogenic test.

I hope this helps and keep in touch and let us know how you go…

Take care,
Janine.


#3

What are the differences between the dna test and the cytogenic test?

On 6/15/07, ozjanine fragilex-cpt4380@lists.careplace.com wrote:


#4

A DNA test is when they look for the DNA marker within the genes. There is a specific alteration on the X chromasone that they will look for. This gene was identified in 1991, or thereabouts. The cytogenic test is the test they used previously, where they placed the blood in a culture dish and looked at the X chromasones under a microscope. This is where they found that the ink stain does not take up in the altered DNA, thus making it look like the bottom bit of one part of the X, is going to break off, hence the name Fragile X. The DNA test is much more accurate, and it is important to still request it, because even still, 17 years later, not everyone knows that they DNA marker is identified.

Hope this helps,
Janine


#5

“A lot of Fragile X kids spin the wheels of their toys…”

I found this to be very interesting! My son Matthew has always been facinated with toys that have wheels. He will follow me around while I vacuum, goes after great-grandma’s walker, ect ect. His favorite toys are his cars.

I have done a lot of research on Fragile X and haven’t come across this yet. But it explains why he loves his cars so much and gets mad when you take one away to dress him!