Four-year-old Theo Vaz Vieira Whelan underwent a six-hour-long spinal surgery on Friday due to having the rare medical condition spinal muscular atrophy (SMA).
He is one of 70 people of all ages in the State with the condition, which newborn babies are now being tested for through the national bloodspot screening programme (or heel prick test), which is administered within five days of birth.
“It is great news that such tests are now available, but it is a little sour for us and late for Theo, who has faced so much,” said Theo’s mother, Stephanie Vaz Vieira.
The hope is that the rare genetic condition, which causes severe muscle degeneration and can lead to death by the age of two, can in future be treated before symptoms start to appear.
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Symptoms often emerge in the first few months of a baby’s life, but it used to take significantly longer to receive a diagnosis, by which time irreversible damage could occur. In its most severe form, SMA drastically impacts vital muscle functions necessary for movement, swallowing, speech and breathing.
Vaz Vieira said seeing her son in the intensive care unit at Children’s Health Ireland in Crumlin, Dublin was “very tough”.
“No one should have to go through this and I wouldn’t wish it on my worst enemy,” she said. “Theo has faced delays in diagnosis and treatment since he was born, which have made no sense, especially when there are early diagnosis and treatment options available in other countries.”
She said getting a diagnosis was a “rollercoaster journey” and that the six babies who will be “born with this condition this year and every year” should now receive treatment on time “which can stop SMA in its tracks”.
[ Test delays affect babies with spinal muscular atrophyOpens in new window ]
The inclusion of the condition in the national newborn bloodspot screening programme was announced in November 2023, following a rigorous review process and a positive recommendation from the National Screening Advisory Committee.
SMA Ireland director Jonathan O’Grady said the development should firmly put the condition “on the radar” of the medical community.
“This is such excellent news for new and expectant parents and indeed for everyone who will have a baby in Ireland in the future,” he said. “Such a test has not yet been introduced in England and Wales and in other European countries. Scotland has recently introduced a trial test dealing with this condition.”
[ Newborn babies to be tested for spinal muscular atrophyOpens in new window ]
For families dealing with SMA, the impact of early diagnosis can be profound. Liz McMahon and Dave Ryan’s two sons, Luke (8) and Seán (6), have the condition.
Luke was diagnosed at just eight weeks, but because of the degenerative nature of the disease, irreversible damage had been done by the time he received treatment.
Seán, who was born two years later, was diagnosed in utero (in the womb) and treated within days of being born. He is living without disabilities.
“This is a remarkable day for families like ours,” McMahon said. “We have lived the reality of both late and early diagnosis. The difference is life-changing.
“Knowing that every baby will now be screened means other families will not have to endure that uncertainty.”
