The father of a young boy with a rare genetic disorder is calling for a life-saving gene therapy to be approved for Irish children
Two years ago, Les Martin lost his six-year-old son Cathal to the rare, critical enzyme deficiency, metachromatic leukodystrophy (MLD).
His younger son Ciaran has since been diagnosed with the same condition; however, he is now "absolutely thriving" after accessing the gene therapy, 'Libmeldy'.
"Both my boys were born with MLD, it's a rare metabolic genetic condition," Mr Martin told Newstalk Breakfast. "It affects the nerve system and it's a terminal condition.
"Cathal was six when he died, that was two years ago.
"He was born fine, he grew up to the age of two - he was fine - and he began to show some signs that he wasn't hitting his milestones.
"He was slow to get to this feet and we suspected there was something up with him.
"We were a year and a half trying to get a diagnosis for Cathal because of the rare nature of the condition. At that point, he had gone backwards quite a bit; his disease was too advanced for any sort of treatment."
"It really works"
Because of the genetic nature of MLD, the family had their other children checked for it.
Their young son Ciaran was just one at the time but he was diagnosed with the condition.
Because he was yet to show any symptoms of the condition, he had the chance to access a trial gene therapy now known as Libmeldy in Milan.
Mr Martin said the treatment was 'very successful'.
"It's a gene therapy - these are very advanced and new types of therapies," he explained.
"They take out the bone marrow stem cells, they do some genetic engineering on them and they reintroduce them to the body.
"That introduces the gene that was missing and... essentially it stops the disease in its tracks; it's a one-time treatment."
EMA approval
He said the European Medicines Agency (EMA) has since approved Libmeldy as a treatment, and now it is up to individual countries to assess it.
"The next stage of the process is that individual countries within Europe assess the treatment and the cost of it," he said.
"Each country, one by one, has agreed with the data and they've agreed to pay for it.
"France, Italy, Germany, the UK, Poland, Austria - all these countries have agreed to fund and provide this treatment for their citizens because it's life-saving".
Lynda and Leslie Martin with Ciaran and Cathal. Picture by: Facebook/Clara Vale Fundraiser for the Martin FamilyMr Martin said he is concerned about what he has heard so far when it comes to approval in Ireland.
"I'm slightly worried about the initial draft reports that have been produced by the Irish authorities," he said
"They've said the price is too high and there's other treatments - it's just incorrect."
'Absolutely thriving'
He said the benefits of the therapy are 'black and white'.
"I'm trying to engage with them and the other committees who are involved to have another chance to have a say and to convince them otherwise, that this treatment is worthwhile," he said.
"I can tell you that the cost to the State for the care of my son Cathal, through his six years of chronic illness and full-time care, it far outstrips the costs of this drug.
"We're the only family in the country who's received this therapy and it's black and white to us.
"Cathal's life was tougher than anyone's life should be and he's gone now. Ciaran is absolutely thriving - he doesn't know he has MLD and knows nothing about it.
"He's in school, he's living his life as any other normal child should be."
The gene therapy has a list price of some €3.14 million.
Listen back to the full interview below:
