Well, This Is What I Think

A post on a FB friend of a friend’s page encouraged us to try and discover “What is Fragile X Syndrome?”

This information is from Fragilex.org.au, which has a bunch of resources talking about this genetic problem, and how to find out more about the illness and get support.

Fragile X Syndrome (FXS) is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics.

It is also the most common single gene cause of autism worldwide.

It appears in people of all ethnic, racial and socio-economic backgrounds.

Though FXS occurs in both genders, males are generally affected with greater severity.

Every week in Australia, for example, one child is born who is fully affected and 20 children are born who are carriers.

It is estimated that 5 per cent of people with a diagnosis of an Autism Spectrum disorder also have Fragile X.

Although there is currently no cure, early intervention by health and educational professionals can assist people living with Fragile X to reach their full potential.

Fragile X Association of Australia is a non-profit organisation that provides support for families living with Fragile X and works to increase the awareness of the condition.

FXTAS

Male carriers over the age of 50 have a 20-40% chance of developing Fragile X Tremor Ataxia Syndrome (FXTAS). This  is a neurological condition similar to Parkinsons Disease, and may involve unsteadiness (ataxia), intention tremor (shaking) and memory problems.

Female carriers may also suffer from FXTAS, but is it less common.

Initial signs of the disorder may include difficulty writing, using utensils, pouring and walking. The symptoms progress over years or decades until many daily tasks become very difficult.

There may be a short term memory loss, anxiety, decreased sensation to touch in the lower extremities and rigidity in movement.

It is common to find these carriers mis-diagnosed as having Parkinsons disease, senile dementia or Alzheimers disease. More information on FXTAS on the NFXFsite.

FXPOI

Female carriers may suffer from Fragile X Associated Primary Ovarian Insufficiency (FXPOI), a problem which can lead to infertility and early menopause in some female premutation carriers.

Primary Ovarian Insufficiency (POI) is a condition in which the ovaries stop functioning normally in a woman younger than age 40. Common symptoms of POI include absent or irregular periods and infertility.

POI is not menopause, even though women with POI may develop symptoms similar to those of menopause, such as hot flushes and vaginal dryness. POI differs from menopause in some important ways:

• Women with POI can still get pregnant in some cases because their ovaries may function irregularly to release viable eggs where as women who have completed menopause can not fall pregnant because their ovaries no longer release eggs.
• Women with POI can experience a return of/or irregular periods, however, women who have completed menopause will not have menstrual periods again.

Studies show that women who have POI of unknown cause have a 1/50 chance of being a carrier of Fragile X therefore the testing of women experiencing either POI or early menopause like symptoms is recommended.

Studies show that approximately 1 in 4 women carriers experience FXPOI and another 1 in 4 experience early menopause. It is thought that all women with premutation status have some decrease in ovarian function. However many women with the Fragile X premutation are able to conceive and family planning options are recommended. More information on FXPOI at the NFXF site.

Anyhow: we note one can donate over at fragiulex.org.au, so we shall probably flick them a tenner.

As we roamed the interweb for information, one thing that stands out very strongly is the need for everyone to understand a whole bunch of autism spectrum disorders not as illnesses, but as a different kind of reality, with their own strengths and weaknesses. That strikes us as a very positive thought.

If we could stop seeing one style of life as “normal” and others as “abnormal”, and instead just see all of us as human beings, but with different normalities and realities, how much better the world would become.

For the same reason, we hate the term “disabled”. It inevitably implies a loss of ability, a “less-ness” when viewed against more common states of being. We much prefer “differently abled”, a term we heard from a warm-hearted man some years ago and immediately adopted.

When one sees what “differently abled” people can achieve – Stephen Hawking, anyone? – the point becomes clear.

Meanwhile, whilst we are on health matters, our continuing quixotic battle to overcome the effects of perfectly normal ageing continues unabated. Yesterday we found to our deep consternation that we could not remember the word “egalitarianism”.

It wasn’t just on the tip of our tongue, it was enveloping the whole of the front of our mouth, but we could not vomit it out for love nor money. No amount of forehead-knotted willpower would bring the bloody word to mind.

So alarmed did we become at the obvious gradual collapse of our mental faculties, that we rang the talkback guest who was on the wireless talking about Alzheimers.

She was very reassuring. Apparently middle aged people do simply find it harder to bring words to mind: it doesn’t mean we’re all headed to terminal mental decline the day after tomorrow. The brain just gradually gets slower: just like the rest of the body. Boo, we say. Boo, and bugger it. We may have to rediscover the joys of a dictionary and a Thesaurus, Dear Reader, instead of, as for the last thirty years, wandering around pretending to be one.

And we are taking up crosswords again, although we suspect it will be an unhappy experience, at least initially. Then again, we did remember “quixotic” a moment ago, so all is perhaps not yet quite lost.