Mum Laura's joy as Duchenne son Callum gets drug Translarna and a new lease of life
A six-year-old boy who suffers from an unusual strain of muscular dystrophy called Duchenne is to be given the revolutionary life-enhancing drug Translarna.
Callum McCorriston's mother Laura Smith was waiting on tenterhooks to see if the NHS in England would approve the drug because the Health and Social Care Board would then adopt the same stance here.
Laura finally recieved the news she has been waiting on for almost two years when it was announced Translarna is to be available on the NHS in England for children like Callum for at least the next five years.
Only a handful of children in Northern Ireland have the fatal Duchenne which is a progressive condition that means children affected rarely live beyond their late twenties.
The news that Translarna is now going to be available on the NHS didn't come a second too soon for the ecstatic Limavady woman.
Laura explained: "Translarna is effective only if the child taking it isn't totally wheelchair-bound and thankfully Callum is still mobile.
"It is hard to imagine how much having this drug for Callum will change his life and ours too.
"It means he will be mobile for at least another seven years, meaning he will be able to play in the garden, walk to the bathroom by himself - little things that other parents can take for granted but things that mean the world to us.
"We took the decison early on to let Callum live as full a life as possible, free from the burden of knowing what lies ahead for him and this drug will allow him that freedom for a while longer, hopefully until he is at an age where he can better understand.
"When I heard that NHS England had agreed to make Translarna available on the NHS, it was like a burden being lifted off my shoulders because we had been told by the HSCB here during a meeting with health officals that it would fall into line with whatever NHS England decided - good or bad, and that that would be final, so everything hung on NHS England."
This brings to an end a long and difficult fight by Callum's parents to get access to Translarna during which they suffered many setbacks and long delays while the HSCB sought the outcome of clinical trials and guidance from other health authorities.
A spokeswoman for HSCB said: "The Health and Social Care Board is aware of the draft Nice guidance issued on Friday, April 15, 2016 in regard to ataluren (Translarna).
"While awaiting the final guidance from Nice, expected in the coming weeks, the board will work closely with the department to consider the most effective way to ensure people in Northern Ireland are able to access this and other new innovative medicines."
Duchenne muscular dystrophy affects around one in 3,600 boys and results in muscle degeneration and premature death.
While both sexes can carry the mutation, females are rarely affected. Symptoms usually appear in boys between the ages of two and three and may be visible in early infancy.
As the condition progresses, muscle tissue experiences wasting and is eventually replaced by fat and fibrotic tissue. By age 10, braces may be required to aid in walking and most patients are wheelchair-dependent by age 12. Progressive deterioration of muscle causes loss of movement, eventually leading to paralysis. The average life expectancy for individuals afflicted with DMD is around 25.