Aussie Bloggers

Today is National Fragile X Awareness Day. “Fragile What? ” is the question I often still get asked when I mention my son’s disability, although not quite as often as when he was diagnosed 15 years ago. More have heard of it but many still do not know much, if anything about it. I wonder if you know any of the following?

• Did you know that Fragile X is the most common genetic cause of intellectual disability and one of the most common single gene disorders? Latest figures from USA indicate that Fragile X affects more than 100,000 Americans and another million are carriers of the Syndrome.
• Are you aware that about one in 256 women and around 1 in 6000 men are carriers of the Syndrome and that carriers have their own distinct medical issues? Female carriers have a 50/50 chance of passing the condition on to their children; males will pass it on to all of their daughters.
• Did you realize that it is the most common known cause of Autism? For between 2% and 6% of all children diagnosed with autism, the cause is the Fragile X gene mutation? About 20% of children with Fragile X meet the full criteria for Autism.
• Would you be surprised to learn that girls with Fragile X Syndrome may not be classed as intellectually disabled but may just struggle a little with school, be shy and suffer from anxiety?
• Did you notice that many of the statistics quoted above were vague as, until the Syndrome becomes better known and many more carriers and their affected children are identified, they cannot be more specific? Many children and adults are misdiagnosed or the reason for their problems not found. These people are missing out on the correct therapies and medical treatment.

Fragile X is caused by a fault on the X chromosome which means that a particular genetic protein is not produced or not produced in enough quantity. It is thought that this protein is a controlling mechanism for other proteins; when it is lacking it leads to an excess of the others. For those affected there is a wide range of possible symptoms which tend to come in varying degrees of severity. In addition to intellectual challenges, ranging from subtle learning difficulties to severe intellectual disability, there are cognitive medical, physical, behavioural, psychological, sensory, social and speech problems. What a tangled web it weaves:

Carriers have a small defect in the Fragile X gene which is not enough to produce the symptoms of those fully affected. They are however prone to their own distinct problems:

Many older carrier males suffer from a condition called Fragile X-Associated Tremor/Ataxia syndrome (FXTAS) which, because of the similar symptoms of tremor, balance and memory problems, can be mistakenly diagnosed as Parkinson’s disease.

For women there is Fragile X Associated Primary Ovarian Insufficiency (FXPOI) a condition that can result in premature menopause for women, sometimes as early as late teens.

If you wish to find out more:

• Head over to the Fragile X Association of Australia site – Just between you and me the site will have a brand new look along with a blog and forums very shortly: to go along with the organizations new status as a National Organisation. I have given you a peak of the new logo at the top of this post. I am busy working on the site and it should be ready within a week or so.
• An article was recently published by Time Magazine which gives a good overview of Fragile X.
• I have started a Fragile X group on YouTube to gather together Fragile X videos made by professionals and parents of people with Fragile X Syndrome. The 10 minute video Fragile X – Hitting the Mark by Katie Klapp of the Fragile X Research Organisation is very comprehensive and Fragile X a Family’s Story clearly shows how the Fragile X gene can be passed down through the generations before it emerges as a full mutation.