Klinefelter syndrome (KS) is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected?
This means the diagnosis rates should be between 225 and 250. In 1999 autism diagnosis rates were 1 in 500. Today? 1 in 88.
Having a chromosome variation awareness day recognised by our Australian government will be the first milestone to open our eyes to a complex syndrome that has never been properly diagnosed, addressed or managed.
Dedicating a day will raise awareness and provide support for people living with this diagnosis. This will enable support groups, Not for Profits, Health care professionals and Educators to promote, and raise awareness. Our Countries visible participation in this event will have a profound impact on our community.
Due to most health professionals often receiving insufficient information about sex chromosome disorders, they aren't even aware to think about testing for X & Y Variations when managing care for a child who presents to them with developmental concerns, as our world has hidden differences.
We need health care providers, educators and parents to know:
- That 1 in 500 children have X & Y Variations that cause complex learning disabilities.
- That up to 20 babies born each day have an X & Y Chromosomal Variation, and only 5 of those 20 will be diagnosed in their lifetime.
- That of the diagnosed:
1. symptoms of Dyslexia often present in preschool years and early identification and treatment is highly effective.
2. That developmental Dyspraxia is often mistaken as being “only a minor speech delay” when, in fact, multiple developmental domains are affected and require targeted treatment.
3. The knowledge gained from caring for these infants and toddlers benefits all children who have reading, speech and increased risk of neurological difficulties.
4.That with the proper diagnosis and intervention, children who have these genetic disorders can be transformed from vulnerable to powerful, from school failure to academic success, to change the disability, into an ability.
1 in 500 people are affected with a chromosome variation. The number of diagnosis is increasing.
The consequences people living with a chromosome variation is the limited access to specialists with minimal expert knowledge on chromosome variations, with no treatment framework in place.
Requesting an awareness day for people diagnosed and living with, a chromosome variation
Chromosome Structure XY & Variations
As we are requesting a National awareness day, we require original name and signature when presenting to Parliament. To be apart of the change, show your support and have our voices heard, please print out the petition and have as little or as many people sign and contact us to post back. Alternatively please contact us email@example.com and we will post a copy of the petition to you with a return paid envelope for you convenience.
To download the petition, please click the petition button.
Let's be a collective voice!
Chromosome Structure XY & Variations @ 2017
A Message from the founding director, Emily Wadsworth
Together raising awareness, to support Research and provide support
What can you do?