IRELAND TRAILS EUROPE in the provision of genetic services for sufferers of rare diseases, a major conference in Dublin was told yesterday.
The conference, held to mark International Rare Disease Day heard calls for the next Government to radically overhaul genetic services in Ireland and to ramp up implementation of the National Rare Disease Plan.
It is estimated that there are over 6,000 rare diseases in existence in Ireland impacting an estimated 300,000-plus children and adults.
One of those is three-year-old Dylan Finglas, who has a genetic condition, multiple sulfatase deficiency (MSD).
Children with this disease are missing essential enzyme activity for normal cellular functions. Over time, a toxic material called heparan sulfate builds up in the brain and body and cells become toxic. This results in devastating effects on the whole body and central nervous system.
Dylan’s dad Alan has been fighting to raise the €2 million to initiate a clinical trial and academic study for at least three sufferers of MSD.
To achieve that, the family founded MSD Action Foundation, a registered charity which also goes by the name SavingDylan.com
They released a video last year entitled “This Video Will Save A Little Boy’s Life”, which led to a flood of donations.
“We’ve raised €415,000 in ten months,” Alan told TheJournal.ie from the conference.
We centred our campaign around the video. I think it’s important to personalise a disease this rare.
“He’s the second-youngest of 18 patients that we’ve found worldwide.”
While there has been major breakthroughs in MSD research and clinical mouse trials have been successful, producing drugs and initiating a clinical trial is expensive.
The problem sufferers of rare diseases find is that pharmaceutical companies are reluctant to fund something this rare and something that only requires a one-off treatment, as the MSD trial would.
“We need to eliminate the cost.
“The drugs can be produced in a couple of months, we can do it.
I often ask and people don’t like when I ask it, but: Is there a price on life? It seems that there is because there is no willingness to push something like this.
“It’s about bypassing the pharmaceutical companies and producing the drugs on contract.
“It’s a one-time treatment, so pharmaceutical companies wouldn’t want to do it because it’s not instantly profitable.”
The money raised by MSD Action Foundation would see at least three patients admitted to a clinical trial and two years of academic study carried out. To that end, Alan knows that raising money quickly is important.
He’s not the same child as he was 12 months. He can’t walk and has no speech. But his baseline is pretty good, things that you’d expect to go wrong haven’t.
“He’s three now, but in two or three years we could have done something.”
MSD Action Foundation take donations here and are asking for volunteers take part this year’s VHI Mini Marathon in aid of them.
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