Fragile X Premutation Carrier / FXTAS clinic in Sydney
A Fragile X Carrier Family / FXTAS Clinic was established in Sydney early 2016.
This 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.
The clinic is run by neurologists Associate Professor Stephen Tisch and Dr Sam Bolitho at St Vincent’s public hospital in Darlinghurst, in Sydney. Dr Randi Hagerman, from the MIND Institute in the US, is forming an international alliance of medical specialists who have a focus on FXTAS; Dr Tisch and Dr Bolitho are already part of that network.
The only clinic of its kind in Australia, it is open to carriers of Fragile X from anywhere in Australia who can attend the clinic in person, offering 1-2 hour consultation with a neurologist. It also offers consultation with a qualified counsellor with deep knowledge of Fragile X, Janie Roberts (formerly a counsellor with Fragile X Association of Australia.)
There is no cost associated with attending the clinic, and the only administrative requirement is a GP referral to Dr Tisch.
The clinic takes place on the last Monday of each month, in the afternoon. The next two available dates are Monday 31 October and Monday 28 November 2016.
At present, Fragile X Association of Australia is acting as a secretariat for the clinic by liaising with the Fragile X community and coordinating scheduling arrangements directly with the clinic.
Contact us you would like further information, or for us to make an appointment for you or one of your family members to attend the clinic. 1300 394 636 or email firstname.lastname@example.org
Here’s what Nyleta McRae, a member of Fragile X Association, had to say following a visit to the clinic in September 2016:
“We were thrilled when we first heard the Sydney FXTAS Clinic had been created. Mum has quickly gone from an independent woman in her early 60’s, to struggling to walk or make any decisions for herself over the past 4 years.
It did require quite a bit of planning to be able to attend. We are in Brisbane, so I needed support from my partner and his parents to organise the logistics to ensure the kids were looked after and could still get to school. There was cost involved, as we flew from Brisbane to Sydney and had to get a car (mum’s condition means that she couldn’t cope with public transport). And finally it was a very long day. We left home at about 7:30am and didn’t get home again until after 9:30pm.
Mum and I both agree it was well worth all of the effort. The Doctors were fabulous and did a very thorough examination that took over 2 hours. It was also wonderful to have the counsellor Janie Roberts there – a familiar face and her support was very welcome.
We now have a more detailed diagnosis, some new medication to trial, and a better idea of what is happening with mum. We will be trying to get down there every 12 months to have her assessed and will be ringing to talk to the Doctors as we progress with new medication. It is a relief to have such an amazing service.”
Rosemarie McRae with Nyleta