WHEN I WAS born in the 1970s, the landscape of medical knowledge about neuromuscular conditions was vastly different than it is today. Almost nothing was known about spinal muscular atrophy (SMA), the condition that has shaped my life’s journey.
I was fortunate to grow up in a family with the means to seek medical attention when it became apparent that I wasn’t meeting childhood milestones. Despite multiple consultations with doctors, a clear diagnosis didn’t come until I was eight and that too happened in London, not in Ireland where I was born. The diagnosis was SMA, a condition that has led me to live my entire life without the ability to walk and a gradually increasing weakness over the years.
Despite the challenges, I continue to lead a fulfilling life, attending university, working abroad, and eventually finding a home back in Dublin. Over the past 15 years, I have lost the use of my arms and now require round-the-clock assistance.
But life is not without its blessings; I have a beautiful partner, Hilary, and enjoyable work within London fintech which I do remotely. I also am involved with a number of charities, including the Irish Wheelchair Association and SMA Ireland.
I am a living testament that being born with SMA does not equate to a life unfulfilled. People with SMA can contribute greatly.
Today, the narrative surrounding SMA is changing, primarily due to advancements in medical treatments. Two medications have been approved for the treatment of SMA in Ireland, both showing significant promise when administered early in life. It was a hard-won victory to have these medications approved for reimbursement, a fight that required fierce campaigning by SMA Ireland due to the high costs of some of these treatments.
However, the most substantial benefit of these medicines can only be reaped if they are administered at the earliest stages of life. This highlights the importance of early detection.
Currently, the newborn screening laboratory at Temple Street can only perform enzyme testing via the heel prick test. This screening includes nine diseases, but recent advances in genetic medicine can allow for screening dozens more through a simple PCR-type genetic test.
Ireland was a leader in newborn screening when it was first introduced in Temple St in February 1966. We were one of the first countries in the world to introduce such a national programme, something we can be rightly proud of.
However, we have not kept that leadership position. If anything, we have become a laggard, as new research released this week from Charles River Associates (CRA) clearly demonstrates. Ireland is now languishing in 23rd place out of some 32 countries when it comes to the number of diseases screened for in the heel prick test. Italy is at the top of the leaderboard, screening for some 48 diseases, followed by Austria at 31 and Poland and Portugal at 29.
Not only that, our decline in the rankings is accelerating. When CRA examined the state of newborn screening across Europe last December, Ireland was in 21st place. So, we have fallen two places.
This is at a time when countries like France have gone from screening five to 13 diseases, and Lithuania from four to 12 diseases.
Earlier this year, the government approved the inclusion of another rare but devastating disease, Severe Combined Immunodeficiency (SCID), in the newborn heel prick test. Six months later, there’s no sign of this test being implemented. Presently, SMA is under consideration for inclusion in the heel prick test. Over a dozen European countries already test for SMA, but again Ireland lags behind. It is alarming to note that around six children are born in Ireland each year with SMA, their parents often oblivious of the ticking timebomb contained in their child’s genes.
I can attest to the emotional turmoil and distress that a delayed diagnosis brings upon a family. By the time SMA is genetically confirmed, the disease has often caused irreversible damage to a child’s neuromuscular system. It doesn’t have to be this way. The technology is readily available to deploy genetic testing.
The Health Service Executive (HSE) must expedite resources to the newborn screening laboratory to ensure these new tests are implemented without further delay. Each day counts, and each day lost in delay potentially costs a child a lifetime of full and effective mobility.
The Irish public agrees. A recent IPSOS survey showed that around 86% of adults agree that the heel prick test should be expanded to test for other potentially devastating diseases. The time to act is now.
The future for children born with SMA can be different. Early diagnosis, leading to prompt treatment, can allow them to lead fulfilling lives. It is time that we make that future a reality.
We have the technology. We have the knowledge. Now all we need is the collective will to prioritise newborn screening, to give all children in Ireland the best possible start in life.
Jonathan O’Grady is a co-founder of SMA Ireland, a voluntary organisation established in 2019 that serves as the collective voice for the children and adults in Ireland with SMA. He is also Honorary President of the Irish Wheelchair Association. Jonathan lives with SMA.
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