Siblings Max and Melissa Atkinson look like any other people their age, but the pair suffer from a rare genetic condition which means they need to significantly restrict the amount of protein they eat, and must take rounds of medication on a daily basis to protect their brains from harmful ammonia. Their mother, Michelle Atkinson, is backing QEHB Charity’s £1m Rare Disease Centre to help patients with rare diseases and their  families.

Melissa, aged 21 and Max, 19, of Tamworth, also have severe learning difficulties as a result of the genetic condition Arginosucconic Aciduria.

They are treated at the Queen Elizabeth Hospital, and will benefit from the new Rare Diseases Centre that is set to open next year, funded by QEHB Charity.

Mum Michelle, 49, explained how it took four years to get her children diagnosed with the life-limiting condition. Both her and her husband Mark, 46, are carriers of the gene that causes the disease.

She explained: “When Melissa was born she had very brittle hair and was quite small. Max was born and 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 and 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.

“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.

“We haven’t been on holiday abroad for seven or eight years. They take so many tablets it would be a nightmare getting through customs.

“No one wants to insure us as they don’t recognise the condition because it’s so rare.”

Now, the mum of two is backing the fundraising campaign for the rare diseases centre which will be funded by QEHB Charity.

She said: “The new centre is very important. We go once a year and making it accessible makes a big difference.”

Dr Charlotte Dawson, Consultant in Inherited Metabolic Medicine at UHB, said:

“Sadly the Atkinson’s story is not unusual in rare diseases.

“Many patients experience long delays in diagnosis partly because the disorders are rare and doctors may not think to test for them, and partly because the tests themselves are often invasive and many tests may be required to diagnose a single disorder.

However we have come a long way since Melissa and Max were children. It is now easier to diagnose many rare conditions because tests are easier to perform and results available more quickly.

“High profile projects such as the establishment of the Rare Disease Centre in Birmingham also help to raise awareness rare diseases, and will improve the experience of care for patients.”

For more information or to make a donation please visit www.qehb.org or call 0121 371 4852.

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