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A basic post-natal screen for spinal muscular atrophy should be part of the standard heel prick test given at birth, Theo Whelan’s parents say

Stephanie Vaz Vieira with baby Theo at their home in Killorglin. Picture by Dominick Walsh

Life is harder than it ought to be for baby Theo Frank Whelan.

H is parents believe he would be living a healthier life had he been born somewhere else. Basic health screening carried out on babies abroad shortly after they are born can detect a medical condition that has left him living with serious challenges. Theo’s case was detected here later, with negative consequences.

Theo is 16 months old, has very limited movement and has not developed as expected for a child of his age. He can’t swallow properly and sleeps with the aid of a machine and mask to prevent him from choking.

Theo was about two months old when he started displaying almost unnoticeable symptoms of Spinal Muscular Atrophy (SMA), a rare genetic condition where muscles get weaker and mobility is impaired.

There are different types of SMA. Children with less severe cases can live long and healthy lives with treatment. Cases that develop in adults are typically mild and don’t impact life expectancy.

Theo’s case, SMA type one, is towards the severe end of the scale. In the past, such cases rarely survived beyond a few years but early diagnosis and the emergence of new treatments improved outcomes for children like him.

About six babies are born in Ireland every year with SMA. Roughly one in 40 people carry a gene linked to the condition. Neither of Theo’s parents realised they were carriers until after he was diagnosed.

Theo smiles, babbles and plays as best he can. He takes the world in and never seems fazed, his mother Stephanie Vaz Vieira says.

As we chat for more than an hour she sits on a play mat doing physiotherapy — exercises like lifting his hips or rubbing his legs.

Theo lies pretty still apart from the occasional flailing arm or a roll. Sometimes he wiggles his toes but his legs never kick out. This is pretty much his full range of movement at the moment, although he has got better recently at holding his head up. It might improve further, but it’s hard to know.

Stephanie, and Theo’s father Shane Whelan, hope this is a sign of progress.

A tube along Theo’s face is being replaced next week, relocated to his abdomen for direct access to his stomach. He needs this because he can’t swallow.

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His parents use a suction machine to keep him from choking on his own saliva. This means he needs round-the-clock care.

In the early weeks of his life there were no signs something was wrong, but as his movement decreased and he seemed to get weaker, Stephanie and Shane had an instinct something was not right when he was about two or three months old.

Shane said Theo felt “floppy”, as if he was getting weaker with age rather than stronger.

“He didn’t have a lot of movement,” Stephanie added. “His legs weren’t moving or going up in the way a baby would kick and play with their legs.”

Whatever movement he had in the early weeks of his life slowly fizzled out at a rate that was almost impossible to notice.

“It is really hard to detect without a genetic test,” Shane said. “It was just an instinct with us that something wasn’t right.”.

Stephanie said they were initially told Theo could be “a bit behind” or “he’s a little bit lazy” during routine appointments.

Theo was later diagnosed with hypotonia, decreased muscle tone. This can be a symptom of SMA.

Shane researched hypotonia and found out about SMA. He called advocacy group SMA Ireland for advice and it suggested getting Theo tested. He was brought to Temple Street Children’s Hospital last August and eventually diagnosed. Stephanie believes a lack of awareness around SMA delayed a full diagnosis and necessary treatment early enough to improve his outcomes.

Shane took Theo for a walk a week after the SMA diagnosis but he started choking only a few hundred metres from their home in Killorglin, Co Kerry.

“He just turned completely blue down at the football field, and I thought he was going to die.”

Theo was rushed to hospital in Tralee before being transferred to Temple Street for specialist care.

He now sleeps with a BiPAP machine and a mask covering his face — a form of non-intrusive ventilation.

Last October he was approved to be treated with Zolgensma, a one-off €2m gene therapy drug credited with improving life quality.

Had Theo received treatment before displaying symptoms of SMA his outcomes would have been far better, according to Dr Declan O’Rourke, a consultant paediatric neurologist at Children’s Health Ireland in Temple Street.

Newly available treatments can be very effective.

“Children who ultimately do best are children who are treated before they develop symptoms,” he said.

“The only opportunity to identify patients before they develop symptoms is through the newborn screening heel prick test. Every child born in Ireland has the heel prick test in the first few days of life and it is really the only means of identifying a child in that pre-symptomatic stage.”

Heel prick tests on babies born in Ireland are not checked for SMA.

New research by consultants Charles River Associates grading newborn screening programmes in 30 European countries shows Ireland ranks 21st on the list, down one place compared to last year.

Ireland screens babies for nine health conditions but the research shows more than 50 are checked across Europe. Italy tops the rankings by screening newborns for 48 different conditions with the heel prick tests available there.

Poland, Norway and Germany check for SMA as part of their national programmes. Regional programmes in Italy and Belgium also screen for SMA and it is recommended for inclusion in testing regimes in the Netherlands, Slovenia and Denmark. It is part of pilot schemes in nine other countries including the UK and France.

“We diagnose about six cases per year but the way we diagnose it they have to show symptoms to get a diagnosis,” Dr O’Rourke said.

“With SMA type one (severe cases like Theo’s), it normally happens at three to four months so by that stage, irreversible damage to the nerves has already occurred and so we see irreversible damage to muscle function, to the muscles that allow children to eat, move and breathe.”

Stephanie and Shane want the National Screening Advisory Committee (NSAC), an independent expert group which considers changes to health check regimes, to include screening for SMA in heel prick tests to improve patient outcomes.

The Department of Health said the NSAC sought proposals for updated screening programmes last year and received 53 submissions, including suggestions around newborn screening.

“SMA and other conditions relating to newborn bloodspot screening are under continual and active consideration,” a spokesman added.

He said the committee assesses evidence for changing to screening programmes and this can take time because of the nature of the scientific work involved and processes to ensure they remain effective. “Ethical, legal and societal issues” are also considered.

Theo’s parents said it is vital heel prick testing here is expanded to prevent other children encountering the challenges Theo lives with.

They hope he will live a long and happy life but they fear it will not be without complications. Scoliosis, a curvature of the spine, is one of the serious risks associated with SMA Stephanie and Shane are worried about, as well as the mobility and life quality challenges.

“If we had SMA in the heel prick test, Theo might have had no symptoms before he was treated,” Stephanie said.

“Theo could probably eat with us at the table, do normal things.”

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