Approval of the world’s most expensive drug for use by the HSE has been described as a “huge leap forward” for sick children. 

Libmeldy is used to treat Metachromatic leukodystrophy (MLD), an extremely rare inherited disease that attacks a child’s nervous system.

It leads to a progressive loss of mental and physical skills and most children die by the age of five.

Les Martin’s two sons were diagnosed with MLD and he described today as a “big day” for future patients.

“Our boy Cathal, he was fine until one-and-a-half, two-years-of-age and he started declining a little bit and missing some milestones,” he told The Hard Shoulder.

“He very slowly lost all of his function over the course of his six years of life and passed away at the end of it.

“It’s an extremely difficult condition to live with; it’s traumatic for the patients themselves and the children who have it… It’s a real cruel thing.”

A one off dose of Libmeldy was originally priced at €2.8 million but the Governments of Ireland, Belgium and the Netherlands have negotiated a discounted price from drug manufacturer, Orchard Therapeutics.

“It’s a lifesaving treatment and our other boy, Ciarán, he was only diagnosed because of his older brother,” he said.

“We checked, he was only a very small baby and pre-symptomatic; there was nothing wrong with him.

“He wasn’t showing any signs, it’s only because of that he was eligible for treatment using this therapy.

“If the child is too sick, too far gone, the therapy isn’t effective; it has to be diagnosed early and that’s the key to this.

“So, this is a huge leap forward.”

Diagnosis

An estimated one in 40,000 children suffer from the condition but because it is so rare, many doctors are aware of its symptoms.

Mr Martin feels strongly that children need to be tested early in order for them to get early access to Libmeldy.

“We spent time over in Italy for Ciarán’s treatment and over in Italy they have a far superior screening programme,” he said.

“It’s not specific to MLD, it’s for rare diseases in general - they test for a lot more.

“Why don’t we do that? It’s a simple ask.

“There’s no good reason why we don’t do it; we’ve just fallen by the wayside in progressing that.”

Libmeldy was approved for use for patient use by the European Medicines Agency in 2020.

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Main image: Ciaran, Lynda, Holly, Les and Cathal Martin. Picture by: Supplied