History

Every child is different.  Every girl with Fragile X is very different.  I'm going to give some history here in order to help parents see the progression from diagnosis to elementary school, at least for one child.
My biggest questions about FXS were "How will my daughter progress?" "What can I expect?"  I can't answer that for any one else, but I can go through the development of my child, and some of our experiences may be similar to other families'.    I will try to incorporate polls occasionally to try to collect some information from readers on a larger scale.   (See the first poll to the right.)

My daughter (let's call her Sara) was 18 months old when I got her diagnosis.  I was not expecting those results because she was not exhibiting any signs of FXS at that time.   I just did the testing because I found out that I was a carrier (of the premutation) and the genetic counselor suggested we have Sara tested.  My numbers were something like 30 and 92.    My second fertility doctor (I was trying to conceive my second child) tested me for Fragile X, since I had years of unexplained infertility.  (It turned out to be Premature Ovarian Failure caused by my carrier status.)  It's a wonder I even had Sara.  My first fertility doctor didn't test me for FX--I'm not sure if that was because the connection wasn't known at that time (2004) or some other reason.

I had to request that Sara's pediatrician order the Fragile X test.  She had never heard of it before.  I told her exactly what the genetic counselor had suggested.   When I called the pediatrician for the results, a nurse or secretary told me that everything was fine.  I asked "What are her numbers?" and was then told that Oh, the results are inconclusive. . . another test is being done. . . I'd have to wait for those results.  After about 2 months from the initial blood draw, after being told everything was fine, then after a final conversation with the pediatrician when she told me that Sara was a carrier (incorrect again), I found out that her numbers were 29 and 200-900.  I had to explain to the pediatrician on the phone that "over 200" means she actually had the syndrome.   Ooops.  We switched doctors at that point.

A genetic counselor told me that among girls who have the full mutation of Fragile X Syndrome (number over 200), one third would not have any signs of the syndrome, one third would have some social anxiety and learning disabilities--most likely in math and spatial concepts, and one third would be fully "affected" (autistic behaviors, etc).  I was later told that the "thirds" description was not very accurate, but I still don't really know the correct proportion of these groups or if they can even be grouped this way.  (More on that in the future.)

From that point on I watched her closely for signs of Autism (but felt very fortunate that she was already 20 months and I had not seen any of the signs previously) and learning disabilities.  Let's just say that it's hard to assess a 1 1/2 year old for math and spatial abilities/map reading skills.  I was thrilled when she started screaming in the car when I told her we were going to her friend's house and then headed in the other direction.  Was this spatial ability?  (More on this in the future too.)

Around the time she was 2 years and 8 months I started to notice that she wasn't as verbal as her friends. Of course, doctors/parents/therapists (including me!) will constantly tell you "Don't compare your child to others. . .they each have their own strengths and weaknesses."  But isn't that how we really know when something is wrong??  Don't we only know that there is a problem or delay by comparing them to others?  I tried to tell myself that expressive language just wasn't her strength.  And that coloring wasn't her strength.  And that physical activities weren't really her strength.  And that--yes--she wasn't really as advanced as many of her friends.  At 2 years 10 months, I knew for sure that she was having difficulties in her language abilities. But I also knew that she'd probably test around 3-4 months delayed, and to qualify for early intervention/speech therapy (More on this later!) she would need a 33% delay in language (at least in my state).  How did I know?  I am a Early Intervention Speech Therapist!!  That means that at 2 years 10 months old, she would have to have language skills at a 1 year 10 month level (12 months delayed) or worse.  So I decided to wait and try to do my best to help her catch up.   At 3 1/2, I tested her using a preschool language test (PLS-3) and she was about 5 months delayed. . . still not enough to qualify for the public preschool disabled program.  She was halfway through her second year at a private preschool, which I liked.  The teachers and my husband and I did what we could to try to help her catch up, but she seemed to be falling further and further behind the other children.  At 3 years 9 months she started private speech therapy.  Luckily our health insurance covered it, once a week for 30 minutes.   Unfortunately, without the "label" or diagnosis of Fragile X Syndrome, it would not have been covered.  I sympathize with the many families out there whose children have these issues but have not found the correct diagnosis and therefore are on their own to pay for needed services out of pocket.

My next posting will include (what I hope will be) helpful information about the content and goals of the therapy, and strategies that can work for children with FXS as well as many other language-based delays.   I'm ending this post hoping that I can put up a poll about the age at which other girls were diagnosed with Fragile X.