Family praying the HSE will relent and agree to fund a drug that could be a life-saver for Cillian
Cillian Mearns had the misfortune to be born with a degenerative muscular disease. His mother, Lorraine, tells Joy Orpen that they are praying the HSE will relent and agree to fund a drug that could be a life-saver for him
Imagine having to stand idly by while your child relentlessly loses the power they need to survive. Then imagine there is a drug that might slow, or even reverse, that downward spiral, but your child is denied access to it.
It's a hellish scenario, but it's the unbearable reality for Lorraine and Paul Mearns, from Cloghans, in Co Mayo.
This delightful pair met a decade ago at a medical device company in Galway. Lorraine was working a summer job there, while Paul was busy with an internship. In 2007, they married, and four years later, their first baby arrived. "It was absolutely exhilarating," Lorraine remembers. "Cillian was just perfect in every way."
However, during his first birthday party, she noticed that while other children his age were starting to toddle about, Cillian wasn't. "If you put him standing in his cot, he could totter around alright. But he couldn't pull himself up," she says. When Cillian was 13 months old, Lorraine mentioned the matter to her GP. She referred Cillian to an orthopaedic specialist, who couldn't find anything wrong. Three months later, Cillian was seen by a paediatrician at the Bon Secours Hospital in Galway.
At the first consultation, Lorraine witnessed Cillian, who was then 19 months old, being examined by the specialist. "When she tapped his knees to check his reflexes, there was no movement. I was shocked. She then referred us to a neurologist at Crumlin [Our Lady's Children's Hospital], where they did more tests."
After that, they returned to Galway to anxiously await the results. In the meantime, Cillian's little brother Rian was born. Soon after, Lorraine saw a poster about a fundraising event for a little girl called Grace O'Malley. "When I looked at her closely, I thought, 'This is exactly what Cillian has'. I went home and checked her website, and learned that she had been diagnosed with spinal muscular atrophy (SMA). I asked Paul to call Crumlin to ask if Cillian had been checked for SMA. They told Paul that he had been, and that we were to come to Dublin, to discuss the findings." In March 2014, two-year old Cillian was diagnosed with SMA, type 2.
According to SMA Support UK, this is a "rare, genetically inherited, neuromuscular condition, which causes progressive muscle weakness and loss of movement, due to muscle wasting (atrophy). This may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing."
This is because people with SMA are unable to produce a particular protein that is essential in keeping healthy those nerve cells that control the muscles used for moving and breathing. Without it, those muscles simply waste away.
Soon after the diagnosis, Paul and Lorraine learned they were both carriers of the faulty gene that causes SMA. The chances of two such people getting together are low. Currently there are only 25 children in Ireland with SMA types 1, 2 and 3.
Naturally, it came as a terrible shock for the Mearns family. "It was a very, very dark time for us," says Lorraine. "Rian was only three months old, and as this is a genetic disorder, there was a distinct possibility he could be affected as well. So it was a great relief when he started walking nine months later." Once they had shed copious amounts of tears, Lorraine and Paul realised the only way forward was to concentrate on finding practical ways to help their beautiful son.
Intellectually, Cillian is as astute as any other six-year-old. Just a few years back, he was able to manage with a walking frame. Videos show him moving around independently, smiling and full of fun. "When he went to preschool, he could join the other kids in the playground," Lorraine recalls. "But he got weaker, and needed a manual wheelchair. Then he got even weaker and needed a power chair. Each time this happens, our hearts break a little more. It's so incredibly sad to see in those wheelchairs, which are a godsend, evidence of his personal deterioration."
She adds, "SMA affects all his muscles. When he gets a cold, it can quickly turn into a serious chest infection. The really awful thing about this is that it starts with the legs and works its way up."
Nusinersen (marketed as Spinraza) is a drug that offers some hope for children like Cillian, because it promotes the production of the crucial protein that people with SMA lack.
According to Dr Declan O'Rourke, consultant paediatric neurologist at Temple Street and the Central Remedial Clinic, five children in Ireland who have SMA type 1 are currently receiving the drug through an early access programme - which has now ended - to great effect.
"They have shown significant clinical improvements in all cases," he says. "Typically, a child with SMA type 1 never sits, develops progressive respiratory weakness, and won't survive more than two years. But with this treatment, they're staying alive longer, and gaining motor milestones never before seen in this condition, such as head control, ability to reach out, rolling and sitting.
"They are also showing stabilisation or improvements in respiratory function. People with types 2 and 3, who have been given the drug, are also achieving meaningful improvements in strength and function. Their quality of life is greatly improved. The key here is that the earlier the child is treated, the better the outcome. This treatment has already been approved in 20 other countries."
But in spite of the findings, the HSE drug group has decided not to fund Nusinersen because of the costs involved. Spinraza has been described as "among the most expensive drugs in the world" and each injection costs a six-figure sum.
Dr O'Rourke says: "I'm very concerned that the next child born with SMA type 1 won't survive (without the treatment); and that others with the later-onset types 2 and 3 will miss out altogether.
"My patients are asking me why the minister is not prepared to fund the treatment. We are fervently hoping there will be a turnaround."
"There are kids with SMA in the US who are already walking," says Lorraine. "It's a miracle drug for some of them. Cillian has already lost the ability to stand, to walk, or to raise his hand in class. Yet, he's bright as can be and full of character.
"At the moment he can still write, he can turn on the light, and he can just about feed himself. This treatment would be a lifeline for him. We want him to keep what little independence he still has. It's horrible to think our politicians don't think it's worth spending the money, even though this is a life-or-death situation for our special son, Cillian, and a handful of other kids like him."
For more information about spinal muscular atrophy, see care.togetherinsma.eu. To contact Muscular Dystrophy Ireland, see mdi.ie
Sunday Indo Living