Teenager told she had eating disorder diagnosed with rare brain condition

A teenager was misdiagnosed with an eating disorder when she was in fact suffering from a rare brain condition that made it difficult for her to eat food – among other symptoms.

Sophie McFarlane was 11-years-old when doctors told her parents that she was suffering from an eating disorder when she she would choke on her meals and struggled to keep a balance.

However, following three years of counselling relating to eating disorders offered no improvement in their daughter’s health, Sophie’s parents pushed for a second opinion.

BelfastLive reports that the teenager from Ballyclare, Northern Ireland, was found to be suffering from a rare brain condition called Friedreich’s ataxia.

The NHS lists symptoms of the rare disease – that is believed to affect 1 in 50,000 – tend to develop before sufferers turn 25-years-old.

Signs and symptoms include problems with balance and coordination, increasingly slurred, slow and unclear speech, increased weakness in legs, difficulty swallowing, abnormal curvature of the spine, loss of sight and hearing, diabetes, thickening of the heart muscles, and a loss of sensation in the hands and feet.

The NHS website states of the hereditary disease: "People with the condition tend to have a shorter life expectancy than normal. Many people live until at least their 30s, and some can live into their 60s or beyond."

Sophie was 16-years-old when she was finally diagnosed with the disorder, and her family were distressed to learn there is no treatment or cure for the condition – but the side effects can be treated.

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Speaking to Belfast Live, Sophie's mum Karina said she and her husband were left "gobsmacked" when a doctor delivered a brutal diagnosis to their teenage daughter after years of being misdiagnosed.

She said: "Sophie didn’t get her results from the paediatric consultant as she had, by then, turned 16 and was passed to adult services. We had to make an appointment there to continue the diagnosis process.

"The consultant was very abrupt and on results day, told her dad and I that we were only there to observe as his patient was Sophie. He then stated quite matter of fact: 'You have Friedreich’s ataxia, there can be some heart problems which are fatal to some, so hopefully, you aren’t one of them'.

"He then said there’s no cure or treatment and most patients will be wheelchair-bound 10-15 years after their first symptoms appear, so you have a good few years yet. We were gobsmacked at his manner towards a 16-year-old girl. It left her with severe mental health problems afterwards."

Karina went on to explain that her daughter is finding a positive outlook on her future and is currently studying towards a career in the legal profession.

She explained: "She is starting an Open University course next week on Law and Criminology so still has her dreams in sight. She's just doing them in a different way so we’re super proud of her."

The family are also raising funds for Ataxia UK – a charity that offers advice and support to sufferers of various types of ataxia disorders.

More information on the charity can be found at ataxia.org.uk, while information about Sophie’s fundraising plans can be found via JustGiving.

Ataxia UK’s helpline number is 0845 644 0606 (Monday to Thursday, 10.30am to 2.30pm). You can also contact them by email: [email protected]

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