Children with rare disease find hope at The Wesley Hospital

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Children with a rare neurological disease attended The Wesley Hospital last week for the only national Ataxia Telangiectasia clinic in the southern hemisphere.

The National Ataxia Telangiectasia (A-T) Clinic was held at The Wesley Hospital and Wesley Medical Research (WMR) from 17-19 November, in conjunction with the University of Queensland Centre for Clinical Research (UQCCR) and BrAshA-T.

Eight families from all over Australia that have been touched by A-T attended the clinic, with flights and accommodation funded by BrAshA-T, a Brisbane-based organisation which supports families affected by A-T.

For Sydney mum Natalie Elkheir, attending the clinic with her eight-year-old daughter Laila meant she was able to see familiar and experienced consultants, and become involved in critical research.

“There are so many implications with this disease,” Mrs Elkheir said.

“It’s not just Laila’s brain that’s affected; it’s her lungs, her immune system, her coordination. All of these things have an impact on her socialising as well. Ataxia Telangiectasia is all-encompassing, which is why these clinics are so important.

“It’s such a relief to know that someone is looking into this disease and someone is invested in finding solutions and answers for us. We are very excited to be at the Wesley and seeing all the wonderful innovation that the hospital has on offer,” Mrs Elkheir said.

Wesley Director of Paediatrics and WMR Women’s and Children’s Health Research Committee Chair Prof David Coman said A-T was so rare, only 40 children in Australia were currently diagnosed with the disease.  A-T is a genetic neurodegenerative disorder that causes loss of muscle control, decreased immune system, cancer and premature death in children and young adults.

“It starts off when children are approximately two or three years old,” Prof Coman said.

“As they get older, they lose their muscle function which can lead to being confined to a wheelchair or in some cases develop to into a life threatening disease such as cancer.”

The aim of the clinic was to enable the children to see experts who have experience dealing with the symptoms and side effects of the disease, as well as gathering essential data and research towards finding a cure. From 17-19 November children had consultations at The Wesley with specialists including neurologists, paediatricians, dieticians, respiratory specialists, immunologists and geneticists.

“The doctors involved have experience in supporting patients with this rare disease,” Prof Coman said.

“This clinic is about getting clinicians, researchers, and children and their families together to find treatments for this rare disease. This is the only clinic of its kind in the southern hemisphere.”

The clinic was featured on Channel Ten’s Eyewitness News on Friday 18 November. Watch it here.

Fast facts:
The A-T clinic, held at The Wesley Hospital, was the only dedicated clinic in Australia and aimed to:

  • Develop expertise to manage this complex disorder.
  • Provide access to new and existing treatments.
  • Improve quality of life and health outcomes.
  • Promote and offer access to A-T research projects.
  • Facilitate the involvement in clinical trials.
  • Be a part of an international network of Ataxia Telangiectasia clinics.

Ataxia Telangiectasia refers to a group of neurological disorders in which motor behaviour appears uncoordinated. Children with A-T have problems with coordination due to parts of the nervous system that control movement and balance being affected. A-T may affect the fingers, hands, arms, legs, body, speech, and eye movements. It is often associated with infections, injuries, other diseases, or degenerative changes in the central nervous system. It is also used to denote a group of specific degenerative diseases of the nervous system called the hereditary and sporadic ataxias which are the National Ataxia Foundation’s primary emphases.

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