Welcome to Blogging Sueblimely. To keep up with my posts you can subscribe to my RSS feed and follow me on Twitter. Thanks for visiting!
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:
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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Sueblimely
Wow, I am from Australia and have never geard anything about Fragile X Syndrome. Thanks for making me aware
Thanks Simon, I am pleased that the purpose for this article is being fulfilled
That’s a great video
Considering the high number of women who are carriers, there definitely should be more media awareness of Fragile X Awareness Day!
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I must find out if there was any more media coverage apart from the Radio National Breakfast show. I hope so. The video appealed to me too - its the music that does it I reckon
Mahalo for introducing me/us to this. I’ve never heard of it before, and I appreciate becoming made aware of this.
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Mahalo for your stumble for this one too Kuanyin
What an informative and readable story Sue and written with love and care - thanks for sharing!
I did not know about this before, but you’ve introduced us to Fragile X in an excellent way.
This must be a challenge for the whole family, but I can tell your son is lucky to have a Mom like you.
Let me also say that the vid was great. After reading the information you’ve provided, it was great to see as it deepened the facts and the story.
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I am pleased you appreciated this Renny - FX is found in every country and every race so 1 in 256 women in Norway will be carriers too.
It has been a challenge but we all have those in our lives in one form or other and having Alex in our lives has also been a blessing.
Wow …great post. It’s a great cause to raise awareness about!
I think it is worthwhile
Another advantage in creating awareness is that more funding will eventuate towards research, the result of which have been so encouraging recently.
As FX is a single cell disorder the more learned about FX, the more knowledge is gained about other single cell disorders too.
The incidence rate is pretty high and yet this is the first time I am hearing of it. Just goes to show how awareness of this condition is lacking amongst the general population. Will forward this link to everyone in my address book.
Thanks for forwarding this Sarika, the more people aware of FX the better.
This is indeed a great post, Sue, but my main concern is your struggle with this… given the condition of your son. I will certainly send the post to my friends and hope they’ll take the time to read it.
All my love, Sue. My prayers are with you and your son.
Mig
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Thanks for passing this message on Mig. We have had our struggles for sure but I would not change things for the world. They do say “what does not kill you makes you stronger” and I agree with that
Thank you for posting this. A while ago, I read a great blog about a woman who had a child born with the Fragile X syndrome. She wrote about all the care issues she was going through. It was a great blog that I wish I could find again.
I hope you continue to post about your experiences bringing up a boy with Fragile X syndrome.
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Hi Aldon - there are a fair few FX bloggers so I do not know which one you are referring to. The FX webring in my sidebar is a good place to start. The blogs here usually have their own FX blogger blogrolls so you will find more links on the blogs themselves.
I will still be involved with the new Fragile X Australia site after I have built it and will be contributing there and in the site forums. It may be an interesting exercise for me to journal Alex’s progress and challenges over the years and it may be useful to others, so I will consider it. I may have been better doing it while we were going through it all rather than in hindsight though. The challenges are much less now he is older thankfully.
Thank you for sharing your story. I have read a lot on autism but I was not familiar with the Fragile X syndrome. Your post opened my eyes.
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Great post! Thanks for stopping by my blog.
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Hi Sue, thanks so much for writing this. I was fairly unfamiliar with this syndrome and I have definetly learned something here. I am happy to stumble
I think it’s fantastic that blogging and the web has created the opportunity for people to make others aware of things like this. It’s wonderful to touch the lives of so many people, many of whom will arrive at posts like this when they discover their own, or their child’s condition.
Keep up the good work here, you are definitely making a difference to people’s lives. For some, like myself, who were not aware of Fragile X, our involvement in communities and schools will help to raise awareness and hopefully help others.
Fragile X Syndrome is a good and new news for me. Thanks for sharing this information
I had heard of this syndrome but can honestly say I was not fully aware of what it was - thank you for this interesting and informative post.
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Sue, much to my regret, I have been having difficulty at being online long enough to get much done, I was able to stumble the post although it took me several tries to finally “get ‘er done.”
Hopefully by this coming Sunday, the telephone repair man will find the solution I’ve been waiting on since May. Till next time, keep your fingers, toes, and eyeballs crossed that this issue get cured!
Much love to you, Dearie.
I am pleased that you found this useful. Most people have heard of Down’s Syndrome the most common cause of genetic disability yet Fragile X is the 2nd most common and so many know nothing about it. It is likely because the typical facial features of Fragile X tend not to be apparent until a child is older - longer face, more prominent jaw - and even then these features are not out of the ordinary within the general population.
Journeyer - please suggest to your cousin that she joins in the forums on the FX Aust site once I get them up and running, which will be in the next few weeks. It will be good to have a place where Australians affected by FX can get together.
rhubarb - I do not know a lot about Rett Syndrome but I am trying to develop a very comprehensive list of links on the FX site to as many Australian disability services and resources I can. If you want to contact me (via contact form on my site) we could perhaps talk about ways you could find support and information online.
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