The mother of a boy suffering from a rare degenerative muscle disease calls for the condition to be added to the newborn heel prick test.
he tested for spinal muscular atrophy (SMA) could spare children severe disabilities and potentially life-limiting illnesses.
Liz McMahon, of Mornington, Co. Meath, has two sons with the condition. But while Luke (4) has a serious disability, her other son Sean (2) is perfectly healthy because he received early treatment.
Liz explained how Luke was only a few weeks old when she worried that he wasn’t moving or turning his head. “I reported it to the GP and she suggested that he be taken to the emergency department at Temple Street Hospital. He was examined and the doctor suggested we play with him.”
However, a few days later, Luke had trouble breathing and was rushed back to the hospital where he was admitted to the intensive care unit. He was seven weeks old. “After eight weeks he was diagnosed with SMA and after nine weeks he started treatment. I was in intensive care for two months and in hospital for about ten months.”
Luke is now confined to a wheelchair and gets a pin code because his swallow is so weak.
“He has a non-invasive ventilator that he has to wear at night and needs a lot of extra support,” Liz said.
“If he gets the flu, which he had last October, he’ll end up in intensive care.”
Liz and her husband David were notified when she became pregnant with her son Sean.
“Sean was diagnosed when I was 10 weeks pregnant. They can isolate my blood. We were able to make plans to treat him early.
“The key is to treat a child before it becomes symptomatic.
“Sean was treated as early as 10 days old and then received a single infusion.”
Sean is as healthy as any other kid his age.
Liz pointed out that the treatment could cost around $2 million. Aside from what the test can accomplish to save a child from a severe disability, in purely financial terms it is well offset by the cost of caring for a severely affected child.
SMA Ireland, the charity that supports people with the condition, is running the ‘Put SMA into Practice’ campaign in an effort to add it to the heel prick test.
dr. Declan O’Rourke, a pediatric clinical neurologist in Temple Street, said SMA is a very serious condition, with the most severe form being the most common.
“We see six babies a year with SMA, but by the time they show symptoms at three to four months of age, irreversible muscle damage has already been done.
“We now have several treatments that have completely changed the landscape. The earlier the treatment, the better the result.”
He said children who are presymptomatic do best. He is now able to offer patients a choice of treatments.
“The heel prick test only costs a few euros,” he says.
Meanwhile, treatment options for SMA are among the most expensive managed by the HSE, so it makes sense to identify cases early, he added.