Daniel Simpson, who suffers from Fragile X, a form of X-linked mental retardation.

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molecule

"No disease is rare when it affects someone you love"

National Organisation
for Rare Diseases

 

SMILE...Research News

The SMILE Foundation is proud to be part of a team led by the APSU (Australian Paediatric Surveillance Unit) which has received government funding to report on ‘Psychosocial and Economic Impacts of rare Diseases on Australian Children, Families and Health Professionals.

 Systematically collected data is essential to demonstrate the impact of rare diseases in Australia. The APSU’S ARC Linkage project provides an opportunity to address some critical issues. Some of the methods used will include:

  1. A survey of families caring for a child with a rare disease will provide information on psychosocial, economic, educational and health and support service needs.

  2. A survey of Australian paediatricians will highlight current awareness of rare diseases; needs for information about referral pathways and diagnostic and clinical services that can be accessed for their patients.

  3. An audit of admissions and presentations to the Children’s Hospital at Westmead and specifically the Genetic Clinics to demonstrate service usage and to estimate the costs of services, with the assistance of the Management Support and Analysis Unit and Medical Records Department at the hospital.

 This multi-faceted approach to studying the impact of rare diseases has not been used before. This approach provides an appropriate framework to the study of rare diseases which are often diagnosed in childhood, last throughout life, often cause neurological physical or developmental disability; most have no cure and have wide-ranging impacts on health services, families and on the whole community.

 It takes a large team to perform a study such as this and the SMILE Foundation looks forward to be apart of this exciting research project.

Ashton

5 year old Ashton, what a beautiful SMILE