That’s why we’re helping to raise the profile of these rare genetic disorders this X and Y Chromosome Variation Awareness month.
My Plan Manager consultant Heidi is passionate about increasing understanding of X and Y chromosome variation disorders: her daughter Poppy has Triple X syndrome, also called 47XXX, or Trisomy X.
First diagnosed six years ago, Poppy, now 12 years old, experiences symptoms at the severe end of the spectrum. She has erratic moods and behaviour, physical sensory issues, an eating disorder, growth and muscle tone issues, and language and speech delays, with medical issues still emerging.
She was somewhat fortunate to receive her diagnosis early in life, as one of the significant impacts of X and Y chromosome variations can be reproductive abnormalities, which can cause issues at puberty and with fertility.
Heidi says that Poppy’s childhood diagnosis has given her options.
“It’s always hard, as a parent, to be making decisions about your child’s future, especially when we are talking about their ability to have children of their own. When your child has disabilities it’s even more complex. But having the information early on has allowed us to think about managing puberty and about Poppy’s reproductive future,” Heidi said.
“When people are diagnosed later in life, they don’t get those choices. This is part of the reason I feel so strongly about increasing awareness of Triple X syndrome and other chromosome variation disorders – earlier diagnosis could make a real difference in people’s lives.”
Australian X and Y Spectrum Support says that many affected individuals experience lifelong physical, mental or social challenges, and appropriate support is crucial, especially early interventions.
But this support is often not available because the condition is not widely understood, even in the medical profession. The wide variation in symptoms can also make it very difficult to diagnose, and it is frequently not picked up except through a genetic test.
The impact for those diagnosed later in life without early intervention and support is devastating in some situations. There is a lack of relevant and up to date information for Australians with an X & Y sex chromosome variation.
X and Y chromosome variations are conditions in which a person has an atypical number of sex chromosomes, also known as X and Y chromosomes. Males usually have one X and one Y chromosome, and females usually have two X chromosomes. Occasionally, a child can be born with extra or too few sex chromosomes.
The most common variations involve a trisomy, which means three sex chromosomes instead of the typical two. Girls who are born with an extra X chromosome are referred to as having Triple X or Trisomy X. Boys who are born with an extra X chromosome have 47,XXY, also known as Klinefelter syndrome. And boys who are born with an extra Y chromosome have 47,XYY, occasionally referred to as Jacob’s syndrome. There are other, even more rare, X and/or Y conditions. You can find out more from the Association for X and Y Chromosome Variations.
X and Y chromosome variations are spectrum disorders, so they can present no symptoms, or severe symptoms.
These disorders can affect individuals in very different ways, including:
By Chris
This article is part of My Plan Manager's guest blogger series.
Today’s blog is the start of a series covering the sensory issues of Autistic People. Most of us have heightened senses that can cause a problem dealing with everyday life. It’s a large topic and could easily cover far more blogs than I have time to write, so I’ll focus on the five main senses (there are far more than five but I’m keeping it simple).
As usual I’ll be writing from personal experiences. I’ll start off with writing about my extreme sensitivity to light. I wear the darkest sunglasses I can find (the Cancer Council has the best for the price, in my opinion). Even with these on, a cloudless Australian summer day can be so bright I have to walk around with one eye closed (fortunately nobody can see my eyes behind the glasses).
My sensitivity to light is so strong on some days that even the light of a full moon can be ever so slightly too bright.
As with everything related to our senses, the level of sensitivity fluctuates.
However, my senses seem to be getting sharper as I age, instead of getting duller as one would normally expect. Sometimes when it’s overcast, I don’t need to wear my glasses, but I always keep them with me in case the sun breaks through the clouds.
There are some wavelengths of light that affect me emotionally – the setting sun shining between the earth and an overcast, rainy sky is my favourite light of all.
It’s a mystery to me why my brain processes light the way it does and why it changes the way it processes it, or what triggers that change and its various intensities.
Since sunglasses are basically Personal Protective Equipment for me and many other Autistic People with the same sensitivities, I have sometimes had to wear them indoors – especially if there is bright lighting. For this I have been called names, endured cowardly passive aggressive bullying, and even had to leave a class because the people running the art school were so narrow-minded.
The point I’m making here is it’s tough just trying to get by when small-minded and ignorant people make life more difficult than it already is for someone just because that person is trying to protect themselves enough to live a semi-normal life with as little pain and discomfort as possible.
The same sensitivities that make bright light painful make things like eyedrops and contact lenses next to impossible to endure. However, this ties in more with my oversensitive tactile sense.
Don’t get me wrong, it’s not all bad. I can tell when a picture is off centre by a little as 1mm (literally) as well as ‘eyeballing’ whether something is level when building something; that in particular is extremely useful as you can imagine.
So as with most things Autistic, there are good and bad aspects. I try to embrace the good and cope with the bad but it’s not easy.
Hi I’m Chris. I’m a 44 year old Autistic Person. Originally from California, I ran away to Australia as soon as I could. Raised in the country, life wasn't easy with an invisible neurological difference especially when that difference wasn't even widely known about. On top of that I didn’t even get a diagnosis until I was 39 years old. Looking back I now realise how miserable I was and how badly I was being treated by everyone. Looking forward I want to leave behind some small piece of myself that maybe, if I'm lucky, might make a positive impact.
