Sue Blimely – Out Of Her Niche

Please welcome Sueblimely as today’s guest poster –

I haven’t suffered the agony of writer’s block since I started blogging, that is, until my mind turned to this guest post. I have learned, with trial and effort (there have been many trials to practice on) that life does offer solutions, if you open your mind and let it . Something I read yesterday brought the solution that I should have thought of myself. I will write about a subject that has been a daily part of my life for 17 years now.

If you have heard of Fragile X Syndrome, you are probably still in the minority. When I heard the word 14 years ago it was only after 3 years of searching for the answer and 3 years of doubting my ability as a mother. Surely it must be my fault that all my son’s the niggly little illnesses, infections, ear infections, rashes and 3 years of a runny nose were due to lack of proper care and hygiene; his slow development a result of post natal depression, which saw me hospitalized for a month when he was 6 months old. Three years of doctors and nurses ignoring my concerns: “he is just a slower developer than your other two were my dear – he is doing things within the normal limits”. I can imagine the notes they made – “neurotic mother, suffers from anxiety and depression ” Doubts were my constant companion. Certainly having two older children who walked by 9 months, could read by 10mths, play the piano by 11mths … must be clouding my judgment – you detect exaggeration there – quite correct but they were in general earlier than the norm in all their ‘baby steps’.

When my son was 3 my health center nurse saw the light and referred me to a Pediatrician. I wanted to switch that light off again, wanted to believe all I had been told over the last three years. I did not want to believe a dismissive doctor who told me my son had a developmental disability, that it was unlikely the cause could be found (so he was not going to try) and “please close the door on your way out”. The first stage of grief hit, knocked me for six – denial and isolation. Thankfully the second arrived soon after; the anger that propelled me to action. If this b… doctor is not going to bother to even try finding an answer then I damn well was. My normal determination and single-mindedness returned in strength. A couple of months later I found my savior, a pediatrician, specializing in disability, who had heard of Fragile X and knew of a few things to look for. Seeing my son constantly flapping his hands in excitement (throw him off a cliff and he would probably be able to fly), noticing that he had only one palmer crease instead of two on his hand and that he was quite double jointed (he still relaxes on his bed with head resting on his foot!), he sent us for tests. Yes us, plural.

The results: my son suffers from Fragile X syndrome, the most common known cause of inherited intellectual disability and I believe the only known cause for an Autism Spectrum disorder. I am a carrier, as is my older son. My daughter is clear of the condition, as she inherited my X chromosome that does not have the Fragile X fault on it. Both my daughter and older son have an IQ near genius level.- not telling you mine :-). My mother was a carrier too, as I suspect was her father.

Was I upset by the results – no way. I had had to accept my son’s disability, but not being able to do anything had been tearing me apart. Now I went into action.. Read, research, learn, teach. A foot high mountain of bits and pieces of medical research from around the world was soon transformed into 20 pages of information, written in layman’s terms. This was then used by a fledgling Fragile X Support Group as an information package for those impacted by Fragile X – and to teach the medical profession, which was required regularly in the early days.. More importantly I had an insight into why my son behaved as he did, which was a huge help to me in dealing with it and helping him cope in life. My self esteem improved, there was a reason for his autistic tendencies, ADD, allergies, rashes, ear infections, eye problems, vomiting 30 times a day, lateness in talking, walking, hand flapping and why he could put his legs over his head with incredible ease. There was a reason why this adorable child could melt hearts with his smile even though he could not look them in the eye. His is a sociable kind of Autism. The world and its stimuli full of sights, smells, taste, touch and sounds are often too much for my very precious “Fraggle” to deal with but he is interested in it and its people.

I also found an answer for my own intermittent problems with depression and constant anxiety, which had ranged from mild to “stop the world I want to get off.”. Us female Fragile X carriers tend to be like that. I eventually, stubborn fool that I was, got the whole gamut of help I needed for this; which changed my life. Life is good.

When I read yesterday that a drug to cure Fragile X Syndrome is likely to go into clinical trials as soon as this year imagine how pleased I was. I have written about it on a site that I am developing for a friend who was part of that fledgling support group I mentioned earlier.

Please take some time to read the details on Fragile X and check out the links for more info. There are many children out there with Fragile X who have not been diagnosed. Male Fragile X carriers suffer from a condition known as FXTAS which can be misdiagnosed as Parkinsons. Female carriers are more likely to suffer from depression, anxiety, early menopause and have twins. The more people who are aware of the condition, the more children and adults will get the help they need.

Snoskred – My nephew is autistic, though it wasn’t diagnosed until he was around 4. It can be quite frustrating to communicate with him. I absolutely adore him but I don’t think I could handle it on a daily basis. Enormous kudos to all the mothers out there with kids who suffer from any kind of disability, no matter how small it may seem.

You can read more from Sueblimely at Blogging Sueblimely.

And remember, you can get out of your niche tooall bloggers are welcome. Just contact me.

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7 thoughts on “Sue Blimely – Out Of Her Niche

  1. Well, there I go again learning something new at your blog. Thanks to Sue for doin g thing article. I hadn’t heard of Fragile X but I’m glad I came here today. I like to know a little about these lesser-known conditions because you never know when you might need this information.

  2. One in 256 women are carriers of Fragile X Syndrome and about 1 in 2000 males so it is relatively common, although only a small percentage of Autistic children have Fragile X (maybe 2-6%). Females who suffer from the syndrome, because they have two X chromosomes may not even be diagnosed with a disability but they may be shy and anxious and not do so well academically. Carriers have no intellectual problems thankfully.
    Thanks for posting this Snos

  3. Thanks for this interesting and in.formative post Sue. I have heard of it and knew a little due to in being prevalent in many women /couples with infertility/pregnancy loss circles. It is great news if there is a possible cure .
    I wonder if the 1/256 female carriers accounts for why depression seems more common in women too ?
    I have a genetic disorder and so do other members of my family… and definitely one of my twins. It is enlightening to read other positive stories.
    I hope your son continues to do well.

  4. Sueblimely, thanks so much for sharing this. I hadn’t actually heard of Fragile X before and I’m glad you’ve talked about it here. There are so many parents of children out there whose children have congenital or genetic disorders which are misunderstood. Every little piece of knowledge we gain helps us care for the children in our communities. And their parents.

  5. Thank you Sue, for sharing your journey. We are on our own path of discovery now. It is interesting and enlightening to hear of other people’s struggles and triumphs.

  6. Trish, for some reason females with Fragile X seem to have more shyness, anxiety problems than the males and this seems to be the case to an extent for carrier females too. It is not because there are more female carriers but more a case of hormonal imbalances maybe.

    Cerebralmum, the understanding that I gained from knowing about Fragile X was of enormous benefit in helping me help my son to cope and deal with life and its sensory challenges. I am sure this is why although he suffers from ADD the behavioral problems have not accompanied it – because we are aware of the triggers and stimuli that s to bad behavior. We can either avoid or deal with it in some way before he becomes too stressed.

  7. Tiff – I had not read your recent post until I clicked on your name here. I am pleased you have finally had a diagnosis for your daughter but realize this must be a hard time for you. My thoughts are with you.

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