Charlotte lays out bare facts on her rare illness after diagnosis shock - Ataxia via South Wales evening post

Charlotte lays out bare facts on her rare illness after diagnosis shock

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Charlotte lays out bare facts on her rare illness after diagnosis shock

  • Ataxia sufferer Charlotte Case and her mum Anita with the calendar Charlotte posed for to raise funds and awareness for Ataxia UK.

  • Ataxia sufferer Charlotte Case and her mum Anita with the calendar Charlotte posed for to raise funds and awareness for Ataxia UK.

AFTER being diagnosed with ataxia at just eight years of age, Charlotte Case did not know what her condition meant. Now 27, she is helping to raise awareness of it.

Ataxia is a symptom of many diverse conditions that affect the nervous system, and the word itself refers to the clumsiness or a loss of balance and coordination that comes with those conditions.

After finding her daughter was clumsier than most children, Anita Case, took Charlotte to her local GP who ended up diagnosing her with the extremely rare condition.

Anita said she was left in shock after Charlotte was diagnosed.

"We were absolutely devastated," she said.

"We noticed Charlotte was getting very clumsy. We took her to our GP, who looked at Charlotte and knew something was wrong."

Anita said initially the doctor believed that there was a problem with Charlotte's hip, but it was later noticed that Charlotte did not know where her arms were when she was doing things like putting a coat on. That was when it was realised that Charlotte's condition was neurological and she was referred to a neurologist for further testing.

To get the final ataxia diagnosis, Charlotte was given an MRI scan and had her bloods sent off for DNA testing.

Talking about her daughter's condition, Anita said: "What it does is shuts the body down bit by bit."

As a further symptom of her condition, Charlotte also has a heart defect known as cardiomyopathy.

Up to 80 per cent of people with Friedreich's ataxia have heart muscle disease, and it can lead to an irregular heartbeat or cardiac failure.

Charlotte said: "Cardiomyopathy is part of the package with my ataxia. The heart muscle is enlarged, it's progressive and needs medication.

"I am fortunate that mine is comparatively mild, but I think the cardio appointment is the one we Ataxians all worry about the most."

To monitor her condition, Charlotte must see a cardiologist every year and a neurologist every other year.

Because of her ataxia, Charlotte was not able to go the school closest to her home due to the number of staircases at the school, but she was forced to go to school in another village, which was relatively flat — making things easier for her.

Despite using sticks to walk from a young age, Charlotte was forced to begin using a wheelchair permanently from the age of 16.

Anita said: "It has been hard. Charlotte is not able to walk anymore. If you and I walk a short distance and Charlotte did the same, she would use 75 per cent more energy than what we would — she tires more quickly.

"Mornings are not very good for Charlotte, it takes her a while to come around."

Although Charlotte has never been able to work, she has not let the condition hold her back.

She has not only gained a university degree, but a masters in business.

Anita said Charlotte also tries to do as much as she can, and regularly gets the train to visit friends.

Of those who are aware of what ataxia is, not many realise it is a hereditary condition. If a parent is a carrier of ataxia, then one in four of their children could be born with the debilitating condition.

Anita said: "My eldest daughter has got it, but she is a carrier."

She said one of the worst parts of the condition was that it was incurable.

Anita said: "They are researching hard for a cure. There isn't one yet — but they are getting closer but it's going to take a very long time. We are very hopeful."

But Anita said one of the hardest things about Charlotte's condition was when people stare at her when they are out in public.

"Charlotte is a nice looking girl, and she is quite self conscious. Her hair and make up always have to be just right. But people just stare and I find it really offensive. I think it is because Charlotte, for want of a better word, looks so 'normal', they are wondering what she is doing in a wheelchair."

Charlotte added: "I am normal, I'm just trapped."

There is no official way to treat ataxia, but Anita said physiotherapy and hydrotherapy can help.

"The problem is, services across the country differ. Some of Charlotte's friends go to regular physiotherapy and hydrotherapy sessions - but she does not get that here," Anita added.

Charlotte is even trying to help raise awareness of the condition, by taking part in a calendar to raise funds for Ataxia UK, a charity trying to find a cure for ataxia and in providing help for people with ataxia in the UK.

Charlotte said: "It was brilliant to be part of it — it will help to raise awareness of ataxia."

Anita added: "It is trying to raise awareness of ataxia. People have heard of MS or cerebral palsy or motor neurone disease, everyone knows about them, but not many people know about ataxia. It is very unheard of, and this condition can destroy peoples' lives."

The nude calendar, created by Ataxia UK includes Charlotte who is Miss August and five other women and six men.

The calendar has been shot in the style of the WI Calendar Girls, and has been launched to help people understand a misunderstood condition.

Called Ataxia Laid Bare, the calendar is the brainchild of 33-year-old Sam Merchant, who features as "Mr July" in the calendar. Sam said: "Some symptoms, such as heart disease with Friedreich's ataxia are better-known than others. Others, like hearing impairment, are less well known.

"The Ataxia Laid Bare calendar shows a different symptom each month, with different models choosing a symptom that personally affects them.

"Together, the pictures starkly illustrate the reality of ataxia."

After coming up with the idea, Sam recruited the models and arranged a photoshoot with photographer Chris Brookes.

He said: "I originally came up with it when I saw similar calendars for other charities. I thought to myself, 'why isn't there one of these for ataxia?' It would be a great fundraiser and awareness-raiser.

"Compared with some of the symptoms of ataxia, posing naked was nothing. Ataxia plays a major role in my life.

"It changes a lot of things for me. It affects where I live, the people I hang out with, what I do with my time; everything really.

"So I hope the nude calendar will raise awareness and a bit of money. I hope it will make a lot of people aware of the condition who didn't know about it before."

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