About Fragile X Alliance Inc.
Fragile X Syndrome (FXS) is a genetic disorder caused by a mutation (a change in the DNA structure) in the X chromosome. It results in a wide range of developmental, physical and behavioural problems and is the most common known cause of inherited developmental disability worldwide. Early detection allows the implementation of effective treatment and intervention strategies thus optimising outcome. As this is an inherited condition, diagnosis also allows families to make informed choices regarding both treatment and family planning. The Fragile X Alliance Clinic was established in April 1998 to meet the specific needs of families. It is currently the only FXS-specific evaluation and treatment centre in Australia, and is unique in that families and carers bring both children as well as adults to be seen. For children, the emphasis is on identifying the educational, behavioural and support options that will enhance family life and optimise the child’s abilities. Adults and premutation carriers together with their families are also seen for broader issues including medical and allied health management, counselling, lifestyle issues, provision of information, monitoring of progress and follow-up. We have now seen over 60 individuals and their families and believe that we are able to supply a level of expertise previously not available in Australia. The clinic is staffed by a multi-disciplinary, specialised team who provide the following services:
A medical consultation includes taking a full and comprehensive history and conducting a medical examination, usually over 1 - 2 hours. This first step is necessary to exclude often-missed diagnoses (for example epilepsy, flat feet etc) and many families opt for this only depending on their needs. In order to make things easier on families, we take special care to co-ordinate appointment times with the various clinicians and suggest accommodation for interstate visitors. A typical multidisciplinary assessment involves a medical consultation as described and the following. Families and carers fill out a number of detailed questionnaires sent by mail designed to both help clinicians measure a number of parameters such as behaviour, and also as an aid in clinical research. Visits to the audiologist and optometrist follow to exclude hearing and vision problems, each requiring approximately one hour. This is followed by psychological, speech and occupational therapy assessments, each taking approximately one hour, but conducted in one afternoon. The team meets prior to the assessment, and again after they have drafted their assessment reports. A comprehensive multi-disciplinary report is then composed and the findings discussed in person with the family and carers as appropriate. Please note that Dr Cohen sees patients for private consultation at the Medicare rebate level. The cost of the multidisciplinary assessment and report is AUD$660 outside of Medicare, however, funding for a limited number of sessions can be applied for by current members of the Fragile X Association of Australia. Contact our clinic co-ordinator Bev Sher for further information. Any one or combination of the above services can be selected according to each person’s needs. Individualised treatment plans and follow up services are offered including regular reviews, home and school visits. It is a privately funded clinic that relies on the generous support of individuals and organisations, although some services are partly rebatable through Medicare and private insurance. Staff regularly conduct education programs for families, professionals and support groups throughout Australia as well as internationally. Educational supplies, resources and materials specific to FXS are available by direct or mail order. All staff are actively involved with research which will serve to improve the quality of care available to people with FXS. Clinic Staff Medical Director Clinic Coordinator Psychologist Occupational Therapists Debbie Isaac B.App.Sci (OT), AccOT has over 20 years experience with intellectually disabled children and adults in hospital, community settings and private practice, special developmental schools and early intervention programs. She is client and family centred in her approach and works on a wide range of areas including daily living skills, motor skills, hobbies and vocational options. Speech Pathologist Audiologist Optometrist Genetic Counsellor
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