An Australian Study of families who carry the fragile X gene

The Australian Research Council (ARC) has funded a 3 year study to help families, health professionals and educators understand how being a carrier of fragile X impacts on Australian families.

For many years, individuals who carried the fragile X gene (carriers) were assumed to be completely unaffected by any challenges facing individuals who had fragile X syndrome. In recent years a number of overseas studies of families suggest that the carriers may have subtle profiles of strengths and challenges that include very good visual and verbal skills but difficulties in decision making and short term memory skills. However, these studies were only conducted in male carriers and we do not know whether women who carry the fragile X gene display a similar profile. Professor Kim Cornish, Head of School of Psychology and Psychiatry, Monash University, is leading this new Australian study.

We also do not know if there exists different profiles in women who carry the fragile X gene and have a child/children with fragile X syndrome compared to women who carry the gene but do not have a child with fragile X syndrome. For the first time, in one Australian research study, we will be able to identify commonalities in profiles between men and women who carry the fragile X gene and also highlight important gender differences.

• In Australia we estimate that hundreds of families will have a member who is a carrier of fragile X.
• It is vital that we gather as much knowledge as possible about being a fragile X carrier across the lifespan so we can inform all families about what to expect and how best to intervene.
• Understanding how motor skills, language skills, decision making skills and your well-being changes with age will provide invaluable information that will help future generations.

The Step Ahead project is based at Monash University in Melbourne and they are looking for carriers of fragile X syndrome to participate in their study. Travel costs and additional costs incurred because of your participation will be covered.

If you are interested in the Step Ahead Project please contact Claudine Kraan at the School of Psychology and Psychiatry at Monash University on 03 9902 4162 or claudine.kraan@monash.edu. Alternatively, you may contact Dr Darren Hocking at the School of Psychology and Psychiatry at Monash University on 03 9902 0467 or darren.hocking@monash.edu.

To learn more about the world’s leading inherited cause of intellectual disability and further ground-breaking research into the condition, or to speak to doctors, patients and families affected by Fragile X syndrome on Tuesday, July 26, contact Denise Vrontas or Kirsten Bruce from VIVA! Communications on 02 9884 9100 or 0414 524 383 / 0401 717 566.

Our Association supports the introduction of  the National Disability Insurance Scheme and the scheme’s “Every Australian Counts” campaign. The NDIS is a proposed system to change the way services for people with disabilities, their families and carers, are funded and structured; to provide them with the regular care, support, therapy and equipment they need.

The NDIS recognizes the high rates of physical, emotional and financial distress amongst many families. It  will allow people to make choices about the kinds of things that will best meet their particular needs.  The NDIS includes support provisions for children and adults including early intervention, home and family life, education and work.

Rallies in support of the NDIS are taking place all round the country. Please see the news page of the NDIS site for further information.

The scheme is the key recommendation to come from the Disability Investment Group which was set up by the government in April 2008.

What you can do to help the campaign for the introduction of NDIS

• Sign the petition
• Follow Every Australian Counts on Facebook and invite your friends to follow
• Follow Every Australian on Twitter and retweet their messages
• Take part in rallies

More Information

• Every Australian Counts
• Establishing a New National Disability Insurance Scheme on the FaHCSIA site.

 The December 2009 FXAA newsletter referred to an application to the Australian Research Council for a 3-year PhD scholarship, prepared by Professor Laurie Brown, from the National Centre for Social and Economic Modelling (NATSEM), University of Canberra, and Drs Robyn Iredale and Mike Field and Professor Tim Turpin from the FXAA.

Much to our delight we learned in July 2010 that we were successful. This is very gratifying as it will be the first research of this type on fragile X syndrome in Australia. The lifetime social and economic costs of people with full mutation and pre-mutation fragile syndrome will be quantified.

The ARC will provide $80,000 in scholarship funds, NATSEM will provide $46,500 in financial and other assistance and the FXAA has agreed to contribute $6,000 per year in cash, over three years, as well as provide in-kind support. The latter will consist of the provision of results from the analysis of the Australian and New Zealand survey data, referred to in three of our newsletters, and assistance with identifying suitable case studies to form the basis of the modelling process. Members of the FXAA will also serve on a steering committee for the project.

 We look forward to the outcomes of this project and to support from members. If you are interested in applying for this scholarship details can be found on the University of Canberra website –  http://www.canberra.edu.au/research-students and follow instructions for PhD scholarships 2011.

This collaborative relationship will allow the partners to work on the challenges they face, build a stronger Third Sector in Australia and through this, drive innovation, wellbeing and sustainability in our communities.

If you wish to read more about National Compact visit the website where you can download a copy of the National Compact, and view updates as the National Compact action plans are developed. You can also follow progress with the Compact via Twitter – @nationalcompact.

You can order the cards by downloading the form and either faxing it to 02 9976 2396 or posting it to The Fragile X Association, PO Box 109, Manly NSW 1655.

Presents

Xmas Trio

Xmas Tree

Angels

The aim of the proposed scheme is to ensure that children who have disabilities which affect their development have access to intensive early intervention therapies and treatments. Children under six with a diagnosis of a listed disability will be eligible to receive up to $12,000 for early intervention services. A number of new Medicare funded diagnosis and treatment services will also be made available for children diagnosed before the age of 13 years with these conditions. Families will be able to access the treatment items up to their child’s fifteenth birthday.

The Better Start for Children with Disability initiative will be delivered on a similar basis to the Helping Children with Autism package which we discussed in an earlier article.

Further Information

• You can download the A Better Start for Children with Disability Fact Sheet and read the Media Release on the website of
  Bill Shorten MP, Parliamentary Secretary for Disabilities and Children’s Services: Children with disability given a better start.
• ABC video of the Prime Minister’s announcement of the scheme: PM promises cash for disabled children
• Carers Australia welcomes the Prime Minister’s announcements around better support for people with a disability and their families.

You can view the ABC segment  by clicking on this link:  http://www.abc.net.au/news/video/2010/07/20/2959418.htm 

The Strategy sets out a number of priority actions to assist Australians with disability, including mental illness, into work. It recognises the importance of education and training as a pathway to sustainable employment, and the role of employers in increasing employment opportunities for people with disability.

A copy of the Strategy paper is available for download from the Australian Workplace website.

Carers Australia CEO, Joan Hughes, recently launched a new Carers Week Website . There you can find details of the events that are taking place in your state throughout the week as well as participate in various forums which give you the opportunity to share your experiences and have your say. Events vary from state to state and include talks, morning/afternoon teas, luncheons, and various types of entertainment and relaxation sessions.

Carers Week 2009 is an initiative of Carers Australia. You can find out more about the services provided by Carers Australia on the: Carers Australia and Young Carers.