FX Info newsletter June 2019
Family stories, the latest on drug trials for Fragile X syndrome, Australian research studies seeking participants, Fragile X awareness month in July, fundraising, events, and more!
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News & Events
FX newsletter: October 2018
Our news and events for 2018, to the end of October, in our latest newsletter, published today. Covering the visit to Australia by Prof Randi Hagerman, a new FXTAS clinic in Melbourne, a clinical trial in Australia, fundraising and family stories. And more!
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Fragile X disorders – don’t miss them
Expansions in the FMR1 gene cause a family of disorders. Yet Fragile X-associated disorders are often under-recognised or misdiagnosed. What should GPs and other health professionals be looking out for?
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Fragile X Newsletter October 2017
The October newsletter profiles the Fragile X Community Days in Brisbane and Hobart – which will feature experts Dr Marcia Braden, educational psychologist and special educator from the US, and Dr Jonathan Cohen from the Fragile X Alliance Clinics in Melbourne.
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Video: When Should a GP Consider a Diagnosis of Fragile X?
When should a GP consider a diagnosis of Fragile X, and why is a diagnosis important?
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Video: The link between Fragile X and Primary Ovarian Insufficiency
Around 25% of women who are carriers of Fragile X will undergo Primary Ovarian Insufficiency / early menopause. If anyone has undiagnosed early menopause they should be screened for the FMR1 premutation.
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Video: Health Management and Fragile X: A Parent’s Perspective
In this 3-minute video Cynthia reflects on the role a GP has in managing Dan’s health, and the challenges posed by Dan’s inability to communicate health issues to those around him.
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Video: Diagnosis: A parent’s perspective
At a very early stage Mike and Helen Tozer could see the challenges with their son Josiah’s development – across the board Josiah was missing milestones. They were very concerned to understand the cause of the delay.
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When to Consider a Diagnosis of Fragile X
With Dr Jonathan Cohen MD from a video produced in 2017. Discussion of developmental delay and other symptoms which warrant referral for a DNA test for Fragile X, and the role of family history in a diagnosis.
Fragile X Podcasts
The Link between Fragile X and Primary Ovarian Insufficiency (POI) | 2-minutes
Concise explanation of the link between Fragile X premutation and early menopause. 25% of women who are carriers of Fragile X will undergo Primary Ovarian Insufficiency/early menopause. It is recommended that anyone has undiagnosed early menopause be screened for the FMR1 premutation.
Fragile X Podcasts
Early Menopause/Primary Ovarian Insufficiency – When to consider Fragile X
Young women with the FMR1 pre-mutation ie, young women who are carriers of Fragile X, are at risk of premature ovarian failure.
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Fragile X Premutation Carrier / FXTAS clinic in Sydney
Fragile X Carrier Family / FXTAS Clinic is a dedicated monthly service for carriers of Fragile X, initially for those who have some concerns about or may be at risk of developing FXTAS – Fragile X-associated Tremor Ataxia syndrome.
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