This diagnosis is just catastrophic
Parents told that all three boys have fatal disease
A COUPLE have spoken of the devastating moment when all three of their young boys were diagnosed with the same terminal illness.
Padraic and Paula Naughton were told the ‘catastrophic’ news that their eight-year-old son Archie and three-year-old twins George and Isaac had all been diagnosed with Duchenne’s Muscular Dystrophy in September 2012.
The Naughtons decided to go public in the last few days about the neuromuscular disease, which is fatal in all cases, to raise awareness ‘about the disease and the devastation that it causes’.
Speaking to Pat Kenny on Newstalk yesterday morning, Mrs Naughton relived the moment when ‘alarm bells started ringing’ for the parents.
She said when Archie was two, he had meningitis and nearly died. He would later drag his leg but this was always put down to the meningitis he had suffered. However, when their then two-year-old son Isaac was having problems getting up from the floor, the couple knew something was wrong.
Mrs Naughton said: ‘It was at that point that the alarm bells started ringing for the paediatrician and ourselves.’
Then the terrible news quickly followed. ‘Unfortunately Archie and the twins are identical so they were seen by a paediatrician on a Tuesday, they had a blood test on the Thursday and they were diagnosed on the Friday as having DMD,’ said Mrs Naughton.
There was no warning of the disease and no previous history of DMD in either of their extended families. She said: ‘In between 35 and 40 per cent of cases, this can happen like this in families with no prior history at all and it is a catastrophic diagnosis.
‘There’s no other way to describe it. The children lose their mobility between the ages of eight and twelve, they end up using a wheelchair because their muscles are not working properly. It affects all of their muscles... so these children end up dying of respiratory and/or cardiac failure.’
Both nurses by profession, Mr and Mrs Naughton had never even heard of the extremely rare disease before September 2012. Only one in 3,500 boys are born with DMD while it affects only one in 50million girls.
Research into the condition is happening internationally but there is no research centre in Ireland. Mrs Naughton said: ‘The re- search is awfully slow and very, very expensive, so there are research centres around the world. This is why we are trying to highlight the challenges of DMD. We need to get something done.
‘ Its now 2014 and so many people have been affected by this life-limiting illness and we don’t seem to have gone very far in relation to any preventative management or cure of this.’
The couple hope that more people will now join the four working groups they have set up in their
‘Lots of families are struggling’
home town of Roscommon. They are doing this through a trust called ‘Join Our Boys’.
Mr Naughton said: ‘We acknowledge that there are lots of families struggling with DMD, at different stages of the disease, and we hope they understand that Join Our Boys is not just for Archie, George and Isaac but will hopefully help to support the work that is being done to find a treatment and eventually a cure.’
You can donate at www.joinour boys.org or the trust can be contacted directly on 085-1212 333.