Blogging Sueblimely

I occasionally divert from the topic of blogging and take advantage of the power of blogging to spread the word about important causes. This one is especially dear to my heart as my third child, a son, is fully affected by Fragile X Syndrome. I am a carrier and had a 50/50 chance of passing carrier status or the full mutation on to each of my children, although I did not know this before he was born. I have not been able to trace any other instances of it in my family although I know my mother was a carrier too and either her mother or father passed this on to her.

I have written a post over at the Aussie Bloggers blog which gives more specific details on the Syndrome and will add links for more information at the end of the post so I will talk here more in terms of my experiences.

When my third son was born, I knew there was a problem almost right from the start. Although I was told that I should not compare his progress to that of my other children, who tended to be early in their milestones, my little Fraggle was behind in everything. On top of this he was allergic to so many foods, threw up constantly, had recurring ear infections, had problems with a turn in his eye and had the strange but endearing habits of flapping his hands when excited. He did not seem to have a lot of physical strength but could get into positions that would make a contortionist proud. At age 18 he is still so flexible that he chooses to sit watching TV with is chin propped up by his foot! We seemed to spend half our life visiting doctors when he was young. I know now that all of his symptoms added up to Fragile X Syndrome. He has an intellectual disability, autistic and ADD (attention deficit disorder) symptoms and sensory defensiveness particularly to smell and sound. Recently anxiety has become a problem. He loves the footy but cannot attend matches because of the crowd noise.

He was not diagnosed until he was nearly 4 because at that stage even pediatricians had not heard of it. Since then it has become more widely known thanks to the efforts of those involved in Fragile X groups and organizations around the world but there is still a way to go.

You may ask why you need to know about Fragile X if you do not have a family member or a friend’s family affected by it.

For a start you may know someone who is affected but this person does not have an intellectual disability. Affected girls may be average learners at school with a weakness in maths. They may be shy, have difficulty with eye contact and suffer from anxiety. Up to 6% of children diagnosed with Autism have Fragile X Syndrome. If a child has developmental and learning problems with autistic symptoms but not enough to be diagnosed with Autism it could well be Fragile X. Although there is no cure for Fragile X, as yet, the therapies and medications used to treat it can be very effective in reducing many of the problems associated with it. Diagnosis is very important.

You or someone you know may be a carrier, with none of the symptoms that characterise someone with the full mutation of the gene. The Fragile X gene seems to work overtime to compensate in carriers whereas the protein it produces is absent or in short supply in those affected.

Female carriers can have problems with irregular, infrequent menstrual cycles and early menopause and they have a greater chance of having twins. They have a higher tendency to suffer from anxiety, depression and shyness. As a carrier I am familiar with all of these, as was my mother. One in 256 women are carriers! Being aware of the reasons for it all, being treated appropriately and making some lifestyle changes made a huge difference to me. I read last week about a study showing that Fragile X can result in sleep problems because of a lack of a Circadian Rhythm. I am not sure if this applies to carriers too but it has always been the case with me. Working from home allows me to not have to worry about not having a sleep pattern. It comes in very useful when building web pages for overseas clients and I can converse with them during their working hours

Older male carriers have a high incidence of a condition called FXTAS (Fragile X Associated Tremors). If they are unaware that they are carriers this is often misdiagnosed as Parkinson’s disease.

I have started a Fragile X group on YouTube to gather together Fragile X videos made by professionals and families of people with Fragile X Syndrome. Here is one of my favorites:

More information can be found at:

• Fragile X Association of Australia
• National Fragile X Foundation - USA

There are quite a number of parents of children with Fragile X blogging - you can find some of them via the Fragile X Webring and on the blogrolls of these sites.

I would not normally ask this but please consider informing as many people as you can either about this post (or a Fragile X Site) to help this awareness day is be successful.

PS - A podcast is available of a Fragile X Awareness Day segment on today’s Australian ABC National Radio Breakfast Show

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