Initial Evaluation: 3 ½ years old

 As I mentioned in the previous post, I tested my daughter’s language skills before I took her to a Speech-Language Pathologist for formal speech therapy.  I used the Preschool Language Scale-3 [Copyright: The Psychological Corporation] and pinpointed several areas that were most difficult for her.  I don’t know how many of these issues are “typical” for girls with Fragile X, but parents may find some similarities in their own children’s language skills. . .

Receptive Language (Understanding) Difficulties

Negation:   examples  “Which person is NOT eating?”  “Who is NOT sleeping?”
Functional relationship:   “Which [picture] is heavier/bigger/etc.?”
Descriptive concepts:  “Which [picture] is long/short/curly/straight?”
Quantity:  “Which picture shows half a cookie/a whole cookie?”
Time/Sequence:  “Who is first/last in line?”  

Expressive Language (Talking) Difficulties

Answering questions:  “What do you do when you are hungry?”
                                    “When do you eat breakfast?”
                                    “Tell me about your pets.”  
Repeating sentences:  Sentences with more than 4 words.


One interesting thing I noticed is that her understanding was more delayed than her talking.  For most children this is usually the opposite.  Most typically developing children understand much more than they actually say, as do many children with speech/language delays.

The most obvious problem was her inability to answer questions.  We were not able to have the “back-and-forth” conversation that you might expect to have with a child who is older than 2 to 2 ½.   She could answer a very concrete, factual question (such as “What is that?,  What is his name?,  Where are we going?”) but nothing more complex.  She often would go off on a tangential topic (with some of her phrases making sense and others more like babbling/jargon) rather than stay on topic for more than one question/answer.    Although she seemed very “talkative” at home (although much of this was random, stream-of-conciousness self-talk), she was not talking at preschool.  This surprised me, considering how social and outgoing she was at home and with friends, and this was a big reason I contacted a Speech-Language Pathologist.

Many people (none of whom knew her diagnosis) asked me why didn’t I just do the speech therapy.   There were several reasons. . . .

Number 1:  Every moment of my day with her is speech therapy.   I am constantly encouraging her to “say it in a sentence,” modeling appropriate social skills,  correcting glaring grammatical errors, testing her understanding, etc., etc., etc., and I needed another “teacher” to impose a more formal structure, give homework with deadlines, and establish a "school teacher"-type relationship.

Number 2:  I work in Early Intervention, also known as “Birth to Three.”  Once a child turns three I don’t see him or her anymore.  (FYI if the child still qualifies for services, they are provided by the local public school district.)  I used to work with children of all ages, but it had been a while and I didn’t feel like my knowledge of preschool language therapy was as strong as it could have been.

Number 3:   I knew that insurance should cover the therapy because she had a medical diagnosis.  I also knew that other issues probably would arise and I would need a good team of professionals, especially as we prepared for Kindergarten.  For example, many kids with FXS have social, psychological, sensory and/or attention problems as well as language delays.  No parent can be social worker, psychologist, occupational therapist, teacher, doctor and speech therapist to their child, and still have time left over for FUN!!  (At least not this parent.)

Have you ever considered home-schooling your child and then realized that you and your child may not have the ability to separate the “parent-child” roles from the “teacher-student” roles?  I needed a separate professional for this challenge!

My next post will begin to discuss the types of activities we worked on to address these areas of difficulty.

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.

People First

Let me start off by explaining the name of this blog.  I’m all for “People First” language. . . a “child with Fragile X Syndrome," not a “Fragile X child.”  But this blog isn’t about a person.  It isn’t about my daughter specifically.  I won’t post pictures of her or our family or provide identifying information here.  I plan to stay completely anonymous, because this is really about collecting information, reviewing research, providing ideas, listing resources which may help families with a child with Fragile X Syndrome. . .especially girls with Fragile X.     

Although I will give examples from my daughter’s experiences, education, therapy, etc., in reality I only tell people who really need to know about her diagnosis  (doctors, teachers, etc.)   Most of our family members don’t even know she has a diagnosis.  It is not my place to tell her story.  It is going to be completely up to her IF and WHEN and HOW and TO WHOM she tells her story.  I will not take that right to privacy and confidentiality away from her to ease a difficult situation or “explain away” her sometimes unacceptable behavior in public.  I would rather have strangers think I’m a bad parent for having an occasionally oddly-acting child than share her personal medical information when it isn't absolutely necessary.  Of course, I am very fortunate that I have this option.  I understand that this only works for our family because she doesn't have the physical characteristics or obvious behaviors of a child with an overt disability, such as Down Syndrome or Autism.  Other children's medical issues may be perceptible to strangers and it would therefore not be possible to keep the diagnosis confidential.  I am very grateful to other parents who have bravely opened their lives to the rest of us so that we might learn more from them and their experiences.  And the individuals who have generously dedicated their time and energy to raise awareness through foundations, charities and fundraising deserve tremendous thanks!!

It is my goal that this blog will be a way to explore issues related to girls with Fragile X since much of the information available is more relevant to boys with Fragile X.  I am not writing as a professional who works with children with Fragile X, because I don’t.  I happen to be a Speech-Language Pathologist (SLP), but first I am a Mom. . . the mother of a 5 year old girl who happens to have Fragile X Syndrome (FXS).