Spinal muscular atrophy: Baby heel prick test 'could be life-changing'

Shauna McRory and husband Ronan with their three sons, including baby Ezra

A County Tyrone family has backed calls for a potentially life-changing, simple blood test at birth for children born with spinal muscular atrophy (SMA).

SMA is a rare muscular-weakening condition - if it is not treated, 90% of children born with the most severe type do not live past two years old.

Shauna McRory, whose son Ezra was diagnosed with SMA in November 2021, said new-born screening is "vital".

It follows calls in the Republic of Ireland for similar services.

Ms McRory said her family was "lucky" their healthcare visitor was "very on the ball".

"She was out to visit us at two weeks and noticed his reflexes weren't what they should be. That was a Friday, we were seen by a paediatrician on Monday, had tests done Tuesday and received the results on Thursday".

SMA is a life-limiting and potentially fatal condition that affects the motor neurons - the cells in the spinal cord - making muscles weaker and causing problems with movement, breathing and swallowing.

A challenging aspect of treating SMA is that the diagnosis is often only made once the child has serious clinical symptoms, such as movement problems, by which point many motor nerves will have been lost.

A blood spot test can detect the condition at birth, allowing quicker treatment.

Even with diagnosis within weeks, Ms McRory said it was scary how much Ezra deteriorated in the week that followed.

Ezra McRory was diagnosed with spinal muscular atrophy in November 2021

Their baby, who had seemed content and was eating well in the first two weeks of his life, had no movement in any of his limbs by the end of the third week.

"Thank God his diagnosis was so quick," she said. "He probably wouldn't still be with us if it was any later."

Liz McMahon and David Ryan from Mornington in County Meath, have two sons with SMA, Luke, 4, and Seán, 2.

But life is dramatically different for their second child who was diagnosed and treated earlier.

"Before Luke was born, SMA was something we'd never heard of," said Liz.

SMA is not routinely detected before or at birth in the UK or Ireland, as it is in nearly all the US, in Germany, Poland, Belgium, Australia and in some parts of Japan.

The first UK pilot study of newborn screening study was launched at Oxford University in March.

It aims to make it possible to detect SMA within days of birth, before symptoms develop, so that any affected newborn can receive diagnosis and treatment at the earliest possible opportunity.

'Stop it in its tracks'

"Luke slept all the time, he was a great baby, but then we started to notice things," Liz said.

Luke's muscle control was not good, his limbs were floppy and he did not move a lot, she added.

He was eight weeks old when he was diagnosed with SMA and started treatment at nine weeks, which was considered young.

He is now in a wheelchair and needs 24-hour nursing care.

Two years later, when Seán was born, he began treatment within 10 days. Compared to his brother, his life is relatively normal, said his mother.

"SMA is a progressive condition. If you get in before it starts taking effect, you are stopping it in its tracks," Liz explained.

The difference between the two brothers is "black and white", she said.

"Seán started treatment at 10 days old. He is two and a half. He has not had any hospital stays, he is not on ventilation. He's walking around and climbing the furniture. He is practically unaffected on a day-to-day basis."

Liz McMahon and David Ryan with their sons, Luke and Seán

She is urging the Irish government to introduce the blood spot test at birth so that children with the rare condition can be treated quickly.

"For me, it's a no brainer," she said.

"Luke needs a nurse seven nights a week; he's in a wheelchair; he has physiotherapy, speech and language therapy; he needs lumber punctures and he is going to need this through his life.

"The screening should be available to every family."

SMA Ireland director Jonathan O'Grady has personal experience of the condition. He has urged the Irish government to introduce the blood spot test alongside the heel prick test given to babies at birth.

"It's a simple PCR (polymerase chain reaction) test that costs five euros," he said.

"Out of 60,000 babies born in Ireland, six will have SMA.

"Other countries have already introduced the test. We are saying to the Irish government to stop dilly dallying and make a move so that we can get that medicine to the children as early as possible. Just let's hurry up."

Without the test, he said, new parents are taking their babies home and only discovering that they have SMA when it is already late.

Luke, 4, and his younger brother, Seán, 2,

"For the McMahons, this will make no difference to their lives, their coming forward and speaking out is a selfless act," he said.

"They are doing it for the next family, they are acting for the greater good."

Meanwhile, SMA UK is also pressing for intervention to diagnose and treat the condition as soon as possible.

The charity is on the steering group of the UK SMA newborn screening alliance whose mission is to achieve the earliest possible introduction of newborn screening for SMA in the UK.

Every five days in the UK, a baby is born with SMA.

The first UK pilot study of newborn screening for SMA launched in Oxford in March.

Researchers hope this will pave the way for national newborn screening that will lead to healthier lives for about 70 babies a year in the UK.