Heartbreak of children lost to rare disease for which there was no cure

The tragedy for Les Martin and his wife Lynda Martin and the other parents of children on a clinical trial in Milan in 2017 is that they had all lost a child to a rare disease. Without that, they would not have been there to try to save a second child.

Cathal Martin was born in 2015, a healthy baby. As he missed some milestones, they suspected something might be amiss but it took a year and a half to fully diagnose his condition — a rare genetic disease called metachromatic leukodystrophy or MLD, which damages the brain and nervous system of one in 40,000 children.

By then, his father told the Irish Pharmaceutical Healthcare Association (Ipha) conference on Thursday he was 2½ and it was too late to arrest the disease. Cathal’s younger brother Ciarán was tested at the same time. His similar diagnosis came back a couple of days after his brother’s.

Sibling’s death

But for Ciarán, there was hope, a long-running gene therapy clinical trial in Milan. After further testing he was deemed eligible, one of the last patients enrolled.

The three big questions over Intel selling 49% of its new Leixlip plant

---

Intel’s $11bn Irish factory deal underpins 6,500 jobs as it seeks to regain mojo

---

Fully let investment on Dublin’s South William Street seeking €3.6m

---

Cosgrave Property Group seeks €48.5m for prime office investment and residential sites

---

Five years later and two years after the death of his brother, Ciarán is a happy and active child. The therapy that saved him — now known as Libmeldy — is approved in states across Europe but not yet in Ireland.

Knowing you have MLD is the secret to survival and Les Martin’s experience in Italy has made him a campaigner for wider screening at birth using the heel-prick test.

In Ireland, we screen for just eight conditions; in Italy, the figure is more than 40 and across Europe, it is in the high 20s, he says.

“I was upset by that and I have put my heart into wider screening at birth as a cause,” he says. He acknowledges it would not have saved Cathal. You don’t screen for conditions for which there is no cure. But now there is.

“Our most basic instinct is to protect our children and I think Ireland has a long way to go in relation to screening. Some progress has been made but we could do a lot better. Having seen what MLD did in my life, I would not wish it on anyone and the burden of that knowledge drives me on to want to change that because it is the right thing to do.”

Libmeldy has a list price of €3.15 million for the one-off treatment, making it one of the most expensive drugs available, one of the factors raising doubts over its future availability in Ireland.

“I have done the sums in my own context in my own life — the cost of Cathal’s life, all the visits to hospital, 24-hour care, for five years. The cost of that financially far outstrip the price tag that they are currently citing. If we can screen at birth for MLD and then immediately have access to the gene therapy, 90 per cent of the cases into the future could be caught and treated and there will be no more boys like Cathal.”

The refrain over cost of care and cost of treatment is a familiar one for Alan Finglas and Michelle Finglas.

Their GP dismissed them as “over-anxious” parents when their son was displaying developmental delays in walking and talking at 18 months. After many months pursuing answers — and taking up advice to pursue private healthcare — the diagnosis came back. Their son Dylan had multiple sulfatase deficiency (MSD).

“It was a hammer blow,” he told the assembled pharma industry executives, “no therapy, no treatment, no real hope”, and a prognosis that their son would likely be dead by 10 years of age. Like MLD to which it is related, MSD is a genetic condition but one for which, as yet, there is no cure.

‘Nursing care’

The disease, known as childhood dementia, is ultra rare, neurodegenerative and progressive. At a time when parents look to see their children develop and grow, as Dylan grows, he loses ability. “Every bodily function will be impacted until there is no more,” says Alan.

“Dylan’s 10 years old now, the age we didn’t think he would get to. I think he’s doing incredibly well, better than expected,” he says. Dylan’s care has become the entire focus of his parents’ lives but it has also been funded by the State which provides specialised nursing care at considerable cost.

“The cost of that nursing care to the State is extraordinarily high — €4,920 a week, €255,000 a year, so over a million euro over the past four years for Dylan.”

Alan has thrown himself into researching the disease and fundraising for research that might find a cure. A carpenter by trade, he founded the MSD Action Foundation to accelerate research on the condition.

“Now there is no cure or therapy for MSD today. There will be because we’re feeding a pipeline of research, but if there was, it is unimaginable that I would not have been able to have taken him off that disease course and change the outcome for the whole family, and for him.”