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The condition is so rare we don't know how long my children will live for. Every day is so precious; Brother and sister suffering same life-limiting genetic condition set to benefit from new Rare Diseases Centre in Birmingham SPECIAL REPORT.

Byline: ANUJI VARMA Health Correspondent anuji.varma@trinitymirror.com

HEY look like any other people their age, their bright smiles lighting up the room.

TA brother and sister surely with a bright future ahead of them.

But Max and Melissa Atkinson suffer from a rare genetic condition that will cut their lives short.

And if they eat certain foods, it will lead to brain damage.

Melissa, aged 21 and Max, 19, of Tamworth, Staffordshire also have severe learning difficulties.

It is the result of the genetic condition Argininosuccinic Aciduria. And tragically, those with the illness rarely live past the age of 20.

They are being treated by Birmingham's Queen Elizabeth Hospital, and will benefit from the new Rare Diseases Centre set to open next year. Mum Michelle, 49, explained how it took four years to get her children diagnosed with the life-limiting condition.

Both she and husband Mark, 46, are carriers of the gene that causes the disease.

"When Melissa was born she had very brittle hair and was quite small," says Michelle. "As she got older I took her to the doctor's surgery.

"But that's as far as it went. "After Max was born he wasn't developing very well. He was quite slow with his speech, and he wouldn't wean very well.

"I would take him to mother and baby groups and it was apparent that he was different to the other children.

"He was eventually referred to a paediatrician. After a blood test they found that Max was possibly suffering from the condition.

"We also got Melissa tested. I was told it would be very rare for both our children to have it but it came back positive.

"When he was diagnosed, we were told that there were about 1,000 sufferers in the US.

"It's a defective gene that myself and my husband must carry. We could still have a normal child.

"When I asked for Melissa to be tested, they didn't think it was worth doing. But I knew something wasn't right.

"The consultant rang us up and said 'Sorry, you have two'.

"We were told it was really bad luck that we had two children with the condition.

"For us, it was shocking and it was hard work."

She adds: "Max was diagnosed on his fourth birthday, and it took time to get our heads around it.

"You go into a state of mourning. The hospital at the time didn't know much about it. It was all guesswork on how to treat them.

"But we seemed to get by. "Because it's so rare they didn't know how long the children would live. It is a life-limiting condition.

"The oldest we know to have survived are people in their early 20s - so, to us, every day is precious.

"Max has severe learning difficulties, as does Melissa.

"They don't get on very well and they bicker quite a lot. They cannot reason with each other."

However, Max's condition is worse than Melissa's.

"They have to have a low-protein diet because too much can damage their brain. Unfortunately we didn't know this until they were four and five.

"Max loved his milk so he drank a lot of it and had dairy products. This had an effect and he has brain damage as a result.

"Melissa had a severe egg allergy from an early age so we avoided diary products for her.

"If Melissa had been diagnosed earlier, then Max would have been better, too, because he wouldn't have had all the diary products."

Neither can read or write, and have difficulties with speech - Max is unable to carry out simple tasks such as tying his own shoelaces.

"People look at you funny when they see you tying a grown man's laces," says Michelle. "Some even make cruel comments.

"When we've been bowling, Max acts like a five-year-old, so there are people who snigger or comment.

"When we take him swimming, he splashes around, and again people make judgment. We just have to rise above it. Max is just Max to us. That is the way he is."

The pair are not streetwise, which means they cannot go out on their own.

Michelle, who is their full-time carer, adds: "They are very easily led and we have to keep a check on them.

"They haven't got any friends and have always been with us. They didn't really gel with anyone because they're stuck in their own bubble.

"It's not been very easy for myself and my husband as we have no family support around us.

"We've never had any financial support and we have dealt with everything ourselves.

"We haven't been on holiday abroad for seven or eight years. The children take so many tablets it would be a nightmare getting through customs.

"No-one wants to insure us - they don't recognise the condition because it's so rare."

Michelle is backing the fundraising campaign for the rare diseases centre.

"The new centre is very important," she says. "Making these services more accessible to everyone will make a big difference."

Michelle Atkinson and her two children Max, 19 and Melissa, |21, who suffer from the rare condition Argininosuccinic Aciduria

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Max and Melissa, both aged four
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Publication:Sunday Mercury (Birmingham, England)
Date:Jan 4, 2015
Words:867
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