A 10-year-old boy from Ely is helping to raise awareness of children’s genetic disorders as part of a national charity’s fundraising day.
Mitchell Green who suffers from Barth Syndrome, a rare genetic disorder that affects boys, is helping to promote Jeans for Genes Day which is on September 23.
The syndrome is rare but Mitchell case is rarer as he is the only boy in the world with his specific form of the disease. Girls can be carriers of the condition which results in weakness of the muscles, including the heart muscle, plus a lack of the white blood cells that fight infection.
Mitchell’s parents Suzy and Jerry knew he was unwell from an early age but struggled to get doctors to take their worries seriously.
But at the age of two and a half they knew for sure there was a problem after he was diagnosed with a chest infection and antibiotics would not work.
Suzy, 47, said: “We went back to our GP who said we had to take him to hospital. And we did that every day for the next 10 days, trying to get a doctor to take us seriously.
“It was obvious something was very wrong. Mitchell had this awful reflux sickness, his face was puffy and he was very tearful. But one doctor actually told me I was being neurotic. Our GP was amazing and kept encouraging us to keep taking Mitchell back to the hospital. I’m so thankful for that, as otherwise we might have believed the hospital doctors and just taken him home, where he probably would have died. “Eventually, on the tenth day, our GP said we had to refuse to leave Addenbrooke’s until someone did something. That night a doctor finally agreed to x-ray Mitchell.”
It showed Mitchells organs were failing and he was dying and the family were told to prepare for the worst.
Mitchell was rushed to Great Ormond Street Hospital in London for emergency treatment for heart failure where he spent six weeks in critical care and was diagnosed with Barth Syndrome.
Suzy said: “We were told he wouldn’t live beyond three. We later found out I carried the gene, passed down from my mum.”
Despite the doctor’s dire predictions, Mitchell has grown into a happy little boy who loves Lego and football.
He has also defied doctors who warned he would need a wheelchair by the age of six - but he is still walking with the help of splints.
Mitchell has medication four times a day and three times a week, has injections into his stomach to boost his immune cells.
• On Jeans for Genes Day everyone is invited to wear jeans to work or school in return for a donation. Sign up at www.jeansforgenesday.org
• The Barth Syndrome Trust will receive a grant from funds raised on the day.
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