Parents of boys with terminal Ducheene Muscular Dystrophy call for greater research
Published 15/06/2015 | 08:26
AN international conference on a disease that is terminal for children will hear calls for greater services for families affected in Ireland.
Paula Naughton raised the plight of her family after all three of her sons - Archie (9), and five-year-old twins George and Isaac - were diagnosed with Ducheene Muscular Dystrophy on the same day.
She and husband Padraig set up the Join Our Boys Trust to fundraise for research and a possible cure. The trust will hold an international conference in Dublin on June 24 and is urging other families battling DMD to attend for free.
It is estimated that around 120 children have DMD in Ireland.
"DMD is the biggest genetic global killer of children but there is no dedicated service for children with neuro-muscular disease in Ireland," said Paula.
Following the diagnosis of her three boys the family received a half-hour appointment with a specialist in Dublin compared with a four-and-a-half hour consultation in Newcastle.
"Children here are not getting the services they need and deserve. Here they offer sympathy but the language used from the beginning is defeatist.
"This is not a condition it's a disease and we need to fight for a breakthrough," she added.
Her call was echoed by that of Dr Anne Jeffers, head of the research working group with the Join Our Boys Trust. Dr Jeffers compared DMD to cystic fibrosis 15 years ago.
"It is so important that parents are informed on progress so they are in a position to demand the right services.
"The proper dedicated services really do help ensure these children live long enough for a cure. I would compare it to where cystic fibrosis was 10 or 15 years ago when there was no dedicated service," she added.
Dr Jeffers said there was currently a "lack of expectation" and "lack of hope" by health service professionals.
"There seems to be an acceptance that just putting a child on steroids or giving them a wheelchair when they need it is the best we can do. There are massive changes in genetic research and there is a very real possibility there will be a cure in the future," she added.
Paula said the outpouring of support from around the country helped the family cope.
"Archie is getting significantly worse, it's so difficult. We are both nurses and we're just standing back watching him and there's nothing we can do, it's just horrific," she said.
For information on the conference see www.joinourboys.org