When we had J assessed by an EP he wrote in his report that due to J's biological parents history, (schizophrenia, ASD, alcohol and drug dependency) it would be good practice for the local professionals to assess J for birth defects that can be caused by the missuse of drugs/aclcohol and for J to be tested for Fragile X along with urgent ASD assessment.
When we raised these comments with The Paed he took one look at J and said he doesnt look like he has got anything wrong with him so we wont bother with the testing!!!!
To be fair though, there are facial characteristics of fragile X, and this isn't true of cancer or high blood pressure. The doctor might have been giving his opinion based on the lack of those characteristics (and I do realise that it is more complex than that and genetic screening is required for a positive diagnosis)
Tamum.....I think the way I worded it was a wrong......J's biological parents have a long history of ASD,mental health problems, Learning difficulties and alcohol/drug abuse......the EP had suggested that J should be tested for Fragile X and Feotal Alcohol Syndrome, along with assessment for Aspergers. I think his train of thought was that J's history before life with us should be taken into account and that he should be tested for Fragile X and FAS to eliminate them from the equasion.
J has learning difficulties ( functioning roughly 4 yrs+ behind his peers), he has speech and communication difficulties and his has the triad of imparement.....will be so glad when the 30th of this month comes and we will be seen by the CP......maybe then we will have some idea what is going on with little man.
Do all children with Fragile X have the same facial characteristics because I was told this is not always the case? I have been told by our local forum that it is becoming apparent that not all children with Fragile x have a big head.....quite the opposite....some children with Fragile x have extremely small features and are small in size....which would definately fit my wee man.
I've come across that in papers too Jaysmum, I'm sure it's right that no all people with FraX will have the large features. Fragile X is enormously variable because the proportion of cells that express it can vary, and the repeat in the DNA that causes the chromosome to be fragile varies so much in length, not just between individuals but within an individual in different cells/tissues. I hadn't heard about small features, I admit, but that may well be my ignorance. Another characteristic is enlarged testicles (macroorchidism).
Characteristic facial features are more common in boys with fragile X than girls. It also becomes more noticable in over 10s. These fetures are not present in all, and you do need a genetic test to be sure.