'I just want to save him. I want to keep him' - mother urges HSE to give life changing drug to her boy (5)
The mother of a five-year-old boy who has a severe progressive disease fears that he will be permanently consigned to a wheelchair if the HSE does not make a new life changing drug available to him.
Ann Marie Harte’s son Lewis has Duchenne Muscular Dystrophy (DMD). Young boys with the disease lose the power of their muscles and are eventually consigned to a wheelchair by mid childhood.
The clock is ticking for Lewis, who will turn six in November, to receive a ground breaking drug Translarna, which would help him stay walking.
Ann Marie told independent.ie she was devastated last month to learn that the HSE announced it would not fund Translarna.
“He's a really intelligent little kid. He has an IQ of 129, and is the gentlest little child. I'd lay down my own life for him to have [Translarna].”
“He is walking but he can't run. It's very difficult for him to climb steps or the stairs. He can't jump, he can't go on a trampoline because it's too strenuous. We’ve been told that he'll never play contact sports.”
“It is so unfair knowing that there is a treatment out there that can help our son but it is being denied to him. This is a race against time that we don’t have, it’s simply agonising”.
“He's turning six in November so we've lost a year with this treatment. They have to be at least five and they have to be walking when they get Translarna.”
In a statement to independent.ie, the HSE said a High Court case concerning Translarna is ongoing in Ireland.
But Ann Marie said her son does not have time to wait for a legal battle to finish. Her family will have to consider their options and try to obtain Translarna abroad, she says.
“As time is going on, I'm getting more desperate. If he had got Translarna tomorrow, the way he is now, he'd be that way in ten years. That would be massive. Once they go into the wheelchair, they have scoliosis and then have to have spinal surgery and a metal rod inserted into the spine.”
“Usually it's cardiac arrest that gets them. I just want to save him. I want to keep him.
“You're looking into the late twenties, early thirties [life expectancy] which is no age. That really frightens me. I just feel if there's a medicine there that can help why not let them have it.”
But she said: “It would make so much more sense for him to have it here. Our daughter is in Leaving Cert, and our jobs and our lives are here. It's not just like we can move abroad like the drop of a hat.”
Earlier this month, families of children with Duchenne Muscular Dystrophy met with Minister for Disabilities Finian McGrath TD and Deputy Mary Lou McDonald in a meeting facilitated by Senator Rose Conway Walsh, in Leinster House to discuss access to Translarna .
Dr. Declan O’Rourke Consultant Paediatric Neurologist at Temple Street Hospital warned: “Treatment with Translarna may change the course of the disease and help delay key milestones, potential improving an overall life expectancy of patients.”
“Considering the high unmet need, the burden of Duchenne muscular dystrophy on society and the clinically meaningful trial use of Translarna and its well-tolerated safety profile it was very disappointing to hear of the HSE Drugs Group decision not to reimburse this treatment.”
But a HSE spokesperson told independent.ie that the HSE Leadership team “has carefully considered the issues in relation to the reimbursement of Translarna”.
“The HSE is not in a position to fund this medicine on the basis of the application submitted by PTC therapeutics,” the spokesperson said.
“The HSE informed the manufacturer of this decision, in keeping with the requirements of the 2013 Act. The manufacturer has appealed the HSE’s decision to the High Court under Section 27 of the 2013 Act.”
“As proceedings have now issued against the HSE, this is now subject to the Courts process.”
“Given there is a High Court case pending the HSE cannot comment further.”
Scotland woman Michelle Young flew to Ireland for the Leinster House meeting earlier this month. Her son Michael aged 10 has been on Translarna in Scotland for the past three and a half years.
“Michael has shown little to no deterioration since starting to take Translarna, he remains ambulant and this is now in stark contrast to his peers, who are not eligible for the drug,” she said.
“If boys can maintain ambulation throughout early adolescence there is less risk of scoliosis and the need for spinal surgery which is hugely expensive and high risk. Translarna is keeping my son ambulant and each month the risk of my son needing surgery goes down”.