'You wouldn't tell a child they couldn't have chemo, but our son is being denied the medication he needs'

Parents of children with a rare genetic condition are fighting for access to a potentially life-changing drug.

IMG_0177 Sam Bailey Fiona Bailey Fiona Bailey

THE PARENTS OF a young boy with a rare genetic condition have pleaded to be granted access to medication that could greatly improve his quality of life. 

Sam Bailey has Spinal Muscular Atrophy (SMA) – a life-threatening and debilitating disease that causes progressive muscle weakness and loss of movement due to muscle wasting.

The most common form of the disease is 5q SMA, which has four different types: 1, 2, 3 and 4 – based on age of onset and the highest physical milestone achieved.

Sam, who will turn nine in March, is from Rathcoole in Co Dublin. He was diagnosed with SMA Type 2 when he was 13 months old.

Symptoms of SMA Types 1, 2 and 3 begin at different ages in childhood. Symptoms of SMA Type 4 begin in adulthood.

SMA-types-e1536103644514 SMA Ireland SMA Ireland

About one in 11,000 babies are affected by SMA. It is the number one genetic cause of death of infants. Type 1 is the most severe form of SMA and accounts for between 50–70% of cases of childhood onset SMA. It is in the same family as motor neurone disease.

SMA is passed from parents to their children through their SMN1 genes. When two people who are carriers have a child together, their child may inherit two faulty SMN1 genes, one from each parent. If this happens, their child will have SMA.

In December 2016, the Food and Drug Administration in the US gave the green light to Spinraza (Nusinersen), the first drug approved to treat children and adults with SMA.

More than 20 countries in Europe have since approved the drug’s use. Two young girls in Ireland with SMA Type 1 were granted access to the drug in January 2017 as part of an emergency programme. Spinraza is delivered through the lower back via a lumbar puncture.

Children who have been granted access to the medication have responded well, gaining strength and motors skills and reaching milestones previously thought impossible. 

There are about 25 children in Ireland who could benefit from the medication, and their families are campaigning for access to it. Spinraza is an orphan drug – it is commercially underdeveloped and therefore very expensive, although its price has significantly reduced.

Providing the drug would cost the government around €20 million over a five-year period, about half a previous estimate following on from various negotiations.

In December 2017, the National Centre for Pharmacoeconomics (NCPE) did not recommend the reimbursement of Spinraza as it was not deemed “cost-effective”. Its estimated cost at that time was €37.88 million over five years.

The HSE is currently assessing whether or not to approve the drug. Parents of children with SMA believed a decision on Spinraza would be made before Christmas but this did not happen. A decision may be reached later this month.

More than 85,000 people have signed a petition calling for access to the drug to be granted. 

‘You wouldn’t tell a child they couldn’t have chemo’ 

Sam’s mother Fiona said she understands that Spinraza is expensive but, given how much the cost has reduced, doesn’t believe the price should be the main focus of the discussion.

It’s a lot of money, but if a child has cancer would someone say they can’t have chemotherapy because it’s too dear? Of course not. 

“We’re basically being told they can’t have the medication they need, full stop. I understand it’s dear but, as a doctor said to me, a night in ICU is dear, a week in ICU is dear, two weeks in ICU is dear. 

“We can expect at least two more stints in ICU in 2019, if we’re lucky. Sam will get to come with us again, if we’re lucky.”

The symptoms of SMA worsen over time and Fiona said it’s “infuriating” to watch Sam’s mobility and strength reduce while prolonged negotiations go on behind closed doors.

“Every moment without Spinraza is a moment lost, the earlier they get it the better. The waiting is torture.

It’s just torturous, there’s no other word for it. Every day SMA is like a ticking time bomb, a cold or chest infection could be fatal. It’s like a shadow following us around, we don’t know when it’s going to pounce.

“When he’s well, he’s super – clever, witty, charming, just gorgeous.”

Sam is fed through a tube and Fiona said one of his biggest wishes is to be able to feed himself. Another is to have the ability to hug his sisters – Kayla (six) and Sarah (two).

IMG_0189 Sam with his sisters Kayla and Sarah. Fiona Bailey Fiona Bailey

Sam uses a wheelchair that he is able to operate himself but his hand function has decreased in recent months.

“Spinraza could make his life so much better, he could regain some of his strength, be able to wrap his arms around his sisters.

If he could throw his arms around his sisters and be well day to day, that would be huge for us.

Sam is in second class in Scoil Chrónáin in Rathcoole but often misses school due to his condition.

He missed most of last October – spending two weeks in the intensive care unit of Our Lady’s Children’s Hospital, Crumlin, and then recuperating at home. He missed over three months of the school year when he was four years old.

Fiona said members of staff at the school have been very supportive.

“Sam said to me the other day, ‘Do you know what mommy, I just love school.’ For an eight-year-old to say that, that’s massive, they spend so much of their day there.”

Sam is passionate about football, West Ham in particular, and plays wheelchair football when he is feeling well enough.

Fiona said Sam will be nine on 6 March but added: “That’s a lifetime away if we don’t get access to Spinraza.”

‘Lives are more important’ 

Sinn Féin TD Caoimhghín Ó Caoláin is among the TDs to raise Spinraza in the Dáil in recent weeks.

Last month he said it was clear the current process for approving orphan drugs is “not fit for purpose”.

We have seen this situation with Spinraza develop in far too many times for persons with rare diseases which, in many cases, are life-limiting.

Ó Caoláin said patients seeking access to expensive medication often have to protest outside the gates of Leinster House, as have people from SMA Ireland, in order for progress to be made.

“The HSE argue that the cost ratio balance must be right. Of course cost is a factor. But it cannot and must not be the primary consideration. Lives are more important.”

IMG_0194 Sam with his parents Paul and Fiona and sisters Kayla and Sarah. Fiona Bailey Fiona Bailey

When asked for comment, a spokesperson for the HSE said: “An application for Nusinersen (Spinraza) is currently undergoing assessment.

“The statutory assessment process involves a Health Technology Assessment followed by detailed consideration by the HSE expert groups on new drug therapies, including the Technology Review Group for Rare Diseases and the Drugs Committee.

The assessment focus is twofold and particularly centred on reviewing the evidence of the clinical effectiveness of this new drug therapy i.e. the benefits for patients undergoing clinical trials; and on the cost-effectiveness of the product in view of the prices being charged for the drug, which has an estimated budget impact in excess of €20 million over a five-year period.

They added that the application is “currently going through the final stages of assessment, and the various reports are due to be discussed at the February HSE Leadership Team meeting”, after which a final decision will be made.

A spokesperson for the Department of Health it is “the HSE alone who will make the final decision whether Spinraza will be reimbursed taking into consideration the statutory criteria as specified under the Health Act 2013″.

More information about SMA and Spinraza can be read on SMA Ireland’s website.

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