Caffeine helping to treat young patients in Sydney with neurological disorders – 7NEWS.com.au

Sydneys Childrens Hospital at Westmead has stumbled upon a remarkable treatment for a group of young patients with a rare neurological disorder.

Its easy to source, perfectly safe and cheap. In fact, most of us already consume it every day in our cup of coffee.

Put simply its caffeine - and its helping patients like four-year-old Grace Maly.

At around four-months-old, a virus lead to a sudden change in Graces development.

Her mother Emma describes how she went floppy.

Emma says, We knew something wasnt right because she couldnt sit up. She wasnt reaching her milestones.

At first, it was a mystery but after years of searching, Grace was diagnosed with a mutation in the ADCY5 gene. A movement disorder prevents her from independently sitting or standing.

Emma says, ever since life has been very different. Its been very up and down. An emotional roller coaster.

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One of hardest impacts is seizures, up to 10 times a day.

Until, the family heard about an unlikely new treatment - caffeine.

Grace takes three doses of prescription caffeine each day and her father Adam describes the results as amazing.

We knew something wasnt right because she couldnt sit up. She wasnt reaching her milestones.

Grace can now feed herself a sandwich by herself. Play Duplo with her brothers. So its really wonderful.

Other families are benefiting too under supervision at The Childrens Hospital at Westmead.

Dr Shekeeb Mohammad says this is what medical professionals dream about, It is immensely satisfying and it is thrilling to be able to see a change in our patients.

Previously, physical therapy has been the only other form of treatment.

The caffeine therapy was in fact an accidental discovery made in France.

A patient there with the condition stopped drinking his usual daily coffee and his symptoms suddenly became far worse.

Older patients like Francesca Risi have followed his lead, drinking straight espresso.

Her mother Angelina says Its amazing for us to see that something so simple can help her put her hand up in class in time to answer a question.

Francescas father Adrian says he just wants his daughter to live a happy life, It gives us probably hope that there are more and more things to be discovered.

Exactly why the caffeine works is still a mystery.

So today, on Rare Diseases Day, the families are sharing their stories, hoping for more answers and maybe one day a cure.

If youd like to help, please follow the links below:

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Caffeine helping to treat young patients in Sydney with neurological disorders - 7NEWS.com.au

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