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Sarah's Story

Sarah was born in 2007 with a rare genetic disorder.

As a result, Sarah has severe hypotonia and cannot walk, speak or even sit herself up. Sarah also has severe developmental disabilities in many areas, suffers from sleep apnea and epilepsy. 

Sarah has a mutation within a gene called PURA. The condition was only first recognised in 2014 and is being known as PURA syndrome. Sarah was in the first paper published globally on the condition.

As of October 2021, there are approximately 510 worldwide (with only 10 cases currently in Australia) who have been found to have a defective PURA gene. Medical science knows very little about the PURA gene. They do not know why it causes seizures, disability and an inability to speak in children like Sarah. 

The lack of knowledge about this genetic condition, and the rarity of this genetic disorder, has made it difficult to secure financial support. Thus, has been registered as a tax deductable charitable trust to help provide for Sarah’s needs.

What does Sarah need?

• Dental Surgery - Sarah has problems with teeth which require surgery. This will also cease ongoing pain. With long waiting lists for public surgery, We may need to undertake private surgery at our own cost. Costs unknown....

• Scoliosis Surgery - Sarah has a considerable scoliosis curve which requires surgery. This will also cease ongoing pain which is causing seizures (epilepsy). Sarah is on the lists for public surgery but will have considerable costs for physiotherapy/rehab and required changes to her equipment to compensate for the surgery. Costs unknown....

• Supra-Malleolar Orthoses (SMOs)  - SMOs are closely fitted custom orthoses made from thin and flexible thermoplastic that encompasses the foot and hugs the ankle. They are worn inside shoes. Sarah needs these to be able to use her standing frame and her bike - $1,600.00

• Physiotherapy once a week ($150 per session = $7,800 per year).

• Occupational Therapy once a week ($140 per session = $7,280 per year).

• Speech Pathology once a week ($140 per session = $7,280 per year).


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