'New drug is a matter of life and death for our Nellie', say parents
A toddler will face "certain death" if the Government does not introduce a drug that has life-enhancing benefits, her father has said.
Nellie Lannen (22 months), from Dublin, was diagnosed with Spinal Muscular Atrophy (SMA) Type 1 in September 2015, at just seven months old.
She now lives on a Bipap ventilator for 20 hours of the day, is mostly paralysed, and fed through a naso-gastric tube. She also requires 24-hour care, with support from the HSE.
The symptoms of this life-limiting condition commonly appear within months of birth. The majority of infants diagnosed have a life expectancy of less than 18 months.
Babies diagnosed within the first few months of life generally have a significantly shorter lifespan.
Nellie's father Stephen told the Herald that he and his wife Brigitta, who live in Churchtown, provide round-the-clock care for their daughter, who was born in the Czech Republic.
"We were just devastated when Nellie was diagnosed at seven months. We brought her into Temple Street Children's Hospital when we suspected that something was wrong.
"After a few tests, they told us what it was and how serious SMA Type 1 is.
"It's very scary when she gets an infection, because when we bring her into hospital we're not sure if she'll come out."
There are currently only two babies in Ireland with SMA Type 1 - both based in Dublin - and 16 families with children who have SMA Type 2, which is less severe. Stephen believes there is a ray of hope for his daughter with a new drug for SMA patients recently given FDA approval.
Biotech company Biogen, which produces Nusinersen, saw substantially positive results during their clinical trials with babies similar to Nellie in the United States.
However, the drug has not been authorised by the European Medicines Agency (EMA).
It is reported to cost from €600,000 to €700,000 for the five or six doses needed in the first year, and €356,000 per year after that.
The drug is not available in Ireland, but Stephen said his daughter's life depends on it.
"It really is a matter of life and death that the Government gives this drug the go-ahead," he said.
"Biogen are operating an expanded access programme, meaning that even though the drug is not strictly approved, they are willing to roll it out to all SMA 1 sufferers immediately, if the Government will support access to it.
"Days and weeks mean deterioration in the condition or death, so there is no time for procrastination."