RadioScope: Our Lives in Our Hands, BBC Radio 4, Wednesday, December 1st, 9 p.m.
Linda Ball's whole life has been affected by the degenerative disease, Duchenne muscular dystrophy. Her brother Vaughan was diagnosed with it at the age of five, just before Linda was born. He was in a wheelchair by the age of eight and died 10 years later.
Her parents always told her she could be a genetic carrier of the disease (women can pass on the defective gene but only boys are born with the condition). She is, so her decision to have children was particularly difficult.
But she longed to be a mum and with a 75 per cent chance any child would be fine, she and her husband went ahead. Three and a half years ago they had a boy, Daniel. On one of the worst days of Linda's life, baby Daniel was diagnosed with Duchenne MD.
Here listeners join Linda on her quest to learn more about the latest medical research into treatments for the disease and of prospects for her son. At present, sufferers rarely live beyond their 20s as, after destroying their ability to walk, the condition progressively weakens their respiratory and heart muscles.
Her first stop is with Dr Francesco Mutoni, a paediatric neurologist at Hammersmith Hospital, who is one of a consortium investigating the viability of gene therapy.
The MD genetic mutation is akin to a long bridge which is missing a very small section in the middle - despite its size, the gap affects the whole structure, he explains. While replacing the whole gene is still beyond the realms of technical capability, there is a short cut possibility, targeting the missing link, which may offer hope. It involves using oligonucleotides as a kind of velcro to seal the two "arms of the bridge" and negate the damaging effects.
To date, experiments have been effective in animals, and phase one trials have now just begun to test its efficacy in people.
For Linda this is good news, as by the time her little boy is eight (and hopefully still on his feet) sufficient advances may have yielded an effective therapy. Her hopes are further buoyed by Australian researcher Steve Wharton who details efforts to create a genetic band aid which could reduce the severity of the disease and hopefully lengthen sufferers' life expectancy.
Prof Kay Davies of Oxford University is using a different approach to gene therapy. Over the next year her team is attempting to identify a drug which would stimulate cells to produce more of a protein which has a similar effect to dystrophin, the protein deficient in MD patients. She too is cautious of the word cure, but hopes developments may greatly improve the quality of life of these children and, if treated early enough, may prevent them going into a wheelchair.
Although her son's birthday parties mark the advance of disability, both Linda and the listeners are left optimistic that teenage Duchenne MD sufferers may one day be middle-aged men.