Sarah and Friends Foundation Ltd.
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Sarah was born in 2007 with a suspected rare genetic Inborn Error of Metabolism (IEM). As a result, Sarah is physically disabled, has severe developmental delay, sleep apnea, uncontrolled epilepsy and is unable to speak. The Sarah and Friends Foundation is a registered not for profit charity in Australia, founded by Sarah's parents, and committed to help Sarah and other children with diagnosed or suspected rare genetic Inborn Errors of Metabolism (0-16 years of age).
Inborn Errors of Metabolism (IEM) are a group of disorders, each resulting from a specific gene defect, causing a clinically significant block in a metabolic pathway. Symptoms can include:
• Intellectual Disability
• Physical Disability
• Neurological symptoms and deficits
• Movement Disorders
• Temperature Instability
• Feeding Difficulties
• Deafness and Hearing Defects
• Absence or Loss of Vision
• Hormonal Defects
The Sarah and Friends Foundation raises funds to:
• Provide children with rare Inborn Errors of Metabolism with equipment and therapy.
• Support research and development in the area of rare Inborn Errors of Metabolism.
• Support projects and programs to help diagnose children with rare Inborn Errors of Metabolism.
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