The family of a 10-year-old Leitrim girl have made a heartbreaking plea to the Minister for Health, Simon Harris, to directly intervene so their daughter, and others with her rare condition, can retain access to vital medication.
Grace McIntyre, who lives in Aughavas, Co Leitrim has the rare condition Morquio A Syndrome.
People who have Morquio A can’t make an important enzyme that is a key part of clearing out materials from cells. This is a progressive condition and a buildup of materials in the cells can lead to potentially serious problems impacting the heart and skeleton as well as causing issues with vision, hearing and breathing.
It is an extremely rare condition and only 10 people have the syndrome in Ireland.
Grace and an 11-year-old Kilkenny girl, Cezy Fosca, are the only children with Morquio included in trials for Vimizim, an enzyme replacement therapy (ERT) which is the treatment available for this condition.
Grace has been receiving weekly intravenous transfusions of the drug, Vimizim, since May 2012 as part of the trials. Her last treatment was on February 15 and her family has just been informed that no more drugs are available for Grace or Cezy.
Grace’s mother Barbara told the Leitrim Observer they are devastated by the news.
“Each time she gets the drug, Grace has to have a four hour infusion.
“She was last offered her medicine on February 15 and she has to take it weekly. We have now been told that there is no more medicine for her,” said Barbara.
“It is like the heart has been ripped out of us. It is devastating for us and for Grace. We normally get this treatment on a Thursday but the Temple Street Metabolic Unit (where Grace receives treatment) has told us there is no more medicine.
“We are at our wits end. The HSE hasn’t been in contact with us. The manufacturer of the drug (Biomarin) hasn’t contacted us. It’s like nobody cares about the families who are affected.”
Vimizim was approved by the European Medicines Agency in 2014 and the manufacturer continued to provide it to Grace and Cezy, free of charge on compassionate grounds.
The families of those using Vimizim had hoped that this therapy would be included on the HSE reimbursement list but the HSE has now refused a number of applications by Biomarin for reimbursement.
In November last year it was suggested that the manufacturers Biomarin, reapply to the HSE to have Vimizim included in the reimbursement scheme.
The Leitrim Observer understands that the manufacturer requested a meeting with the HSE in December last year and agreed to submit a new application for reimbursement along with new data on its efficacy.
This was due to be discussed at the HSE drugs group meeting on January 18. The recommendation on whether to approve the drug for inclusion in the reimbursement scheme was due to be forwarded to the HSE Leader Group two weeks ago.
However Barbara says that the families on the drug have heard nothing since, however she says “the fact the drug has been stopped seems to indicate it hasn’t been good news (coming out of the January 18 meeting).”
Sinn Féin Sligo-Leitrim TD, Martin Kenny, told the Leitrim Observer that Biomarin had agreed to resubmit their application on the basis that they be given an answer by the HSE on their application within six weeks.
“Biomarin said that if they reapplied and didn't get an answer in six weeks they would withdraw the drug,” noted Deputy Kenny, “and it is clear they did not get their answer in that timeframe.”
He said that Biomarin had stressed they would not restart supply of the drug until they heard something positive from the HSE.
“They have made it clear they won't keep supplying the drug for free,” noted Deputy Kenny.
“I have met the Minister for Health a number of times on this and I will be meeting with him again this week.
“We are not going to give up and we are hopeful that it will be resolved and we will continue to work towards this,” he said.
Grace's mother, Barbara, paid tribute to Deputy Kenny and Cllr Paddy O'Rourke, saying their support on this issue was amazing, but said she and her family are now appealing directly for the Minister for Health to intervene.
“This is so awful for us as a family but it is worse on Grace,” she said.
“These are children and they need this drug. This situation has been going on for so long now and it is unbearable. It sucks your emotions so much. It drains you to have to keep facing this; the not knowing if this drug is going to be available for your child.”
The Leitrim Observer contacted the HSE and the following statement was issued “The HSE received a new application from Biomarin in December.
“That application is being considered through the formal processes the HSE has in place and is due for consideration at the next HSE Leadership meeting.”
No date for this meeting has been released.