Boys living with deadly condition
WATCHING her kids play is a bittersweet feeling for Charmaine Twine.
Healthy three- year- old Mia can run and jump but her older brothers are not so mobile.
For both Josh, nine, and Ethan, seven, have an incurable genetic muscle-wasting condition that means they are unlikely to live beyond 30.
They are among 2,500 people in the UK suffering Duchenne muscular dystrophy, which breaks down muscle fibres.
By 12, the boys are likely to be in wheelchairs as their legs will be to weak to walk.
Guilty
Now, four days after World Duchenne Awareness Day, brave Charmaine, 32, is talking about her experience to stress the importance of screening newborns and the need for emotional and physical support.
The housekeeper, from Southampton, had no idea she was carrying the condition until Josh, who had been slow to roll over, crawl and walk, was diagnosed in 2010, aged three.
The second hammer blow came when Ethan, then just nine months, was also found to have Duchenne, which almost exclusively affects boys.
She said: “I broke down and sobbed, I felt their futures had been snatched away. It was like a door had suddenly slammed shut on that.
“When I found out I’d passed on the gene I felt horribly guilty, like I’d given them a life sentence.”
Duchenne, caused by a gene mutation, eventually leads to heart and breathing problems.
Despite the challenges, Charmaine and factory manager husband Alex, 33, wanted another child.
But she got pregnant naturally, before planned IVF to implant an embryo free of Duchenne.
Charmaine cried with relief when she found out she was expecting a healthy girl and chose to be sterilised after Mia was born in August 2013. Both
boys attend a main- stream schools. Josh, who uses a wheelchair, has a special seat so he can sit in class and adapted cutlery so he can still feed himself.
He, unlike his younger brother, is aware of the condition and the future he faces.
Ethan can still do PE and ran in a race at sports day but gets tired easily and is on steroids.
There was some good news for sufferers in July when the NHS said ataluren, a drug to keep children walking longer, should soon be available.
Charmaine said: “The charity Muscular Dystrophy UK have been a lifeline. There needs to be more services available like occupational therapy and physio for people with the condition, and more emotional support.”
She added: “The future for the boys is uncertain so as a family every moment we share
together is precious.”