We've been applying for funding from various sources, and asked our Dad, a sciencey sort with a flair for singing and Latin and German (so not a total test tube geek), to write a bit of medical background to our story. Here it is, if you're interested.
Almost everybody knows about Down syndrome (Trisomy 21) but very few people have heard of Fragile X syndrome (FX) which is almost as common and the second commonest chromosomal disorder known to cause mental retardation.
The condition was first described in 1943 by Martin and Bell and initially known as the Martin Bell syndrome until1969 when the chromosomal disorder was described. However it was not until the early 1980s that the laboratory test was refined to a point where the diagnosis could be readily made and confirmed by clinicians. It was at this time that Tom ( who had been taken to many specialists over a period of about 10 years) was eventually diagnosed.
The sad fact is that many children with FX are still going undiagnosed in 2009 despite seeing specialists for associated medical conditions. Though there is no curative treatment for the condition we know from our experience with Tom that having a definite diagnosis made it so much easier to manage his emotions, social interactions and learning difficulties We could read about what to expect and the experience of others.. Before that it could be very difficult to cope with him veering from extreme anxiety to great hilarity. FX has considerable crossover with autism but information about pure autism is of limited value to those caring for someone with FX..
FX can be diagnosed prenatally by amniocentesis and it is vital that those seeking this service are fully informed and have the benefit of consultation with a specialist clinical geneticist who is well-versed in FX and its complexities.
Both the general public and the medical profession should be much more aware of Fragile X.
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