SMA approved for inclusion in Irish heel prick test

SMA approved for inclusion in Irish heel prick test

SMA Ireland applauds the decision to include Spinal Muscular Atrophy in heel prick test for newborn babies but calls for swift implementation

SMA Ireland, a dedicated advocate for individuals and families affected by Spinal Muscular Atrophy (SMA), today applauds the announcement by the Minister for Health, Stephen Donnelly, that the national newborn bloodspot screening programme, commonly known as the heel prick test, is to be expanded to include SMA. This follows a recommendation from the National Screening Advisory Committee (NSAC) after a rigorous review process and several years of campaigning by SMA Ireland and others.

SMA is a rare genetic condition that causes severe muscle degeneration, potentially leading to fatality by the age of two. Often, symptoms start to appear in the first few months of a baby’s life. However, it can take significantly longer to receive a diagnosis, by which time irreversible damage may have occurred. In its most severe form, this devastating disease drastically impacts vital muscle functions necessary for movement, swallowing, speech, and even breathing. Thankfully, in Ireland, several cutting-edge treatments are now available, mitigating SMA’s most serious effects. However, timely intervention is crucial and this cannot happen without newborn screening.

Director of SMA Ireland, Jonathan O’Grady, expressed his gratitude: "This achievement is a testament to the collaborative efforts of the National Screening Advisory Committee, the Health Information and Quality Authority (HIQA), the Health Service Executive (HSE), and the Minister for Health, Stephen Donnelly. Including Spinal Muscular Atrophy in the heel prick test marks a key advancement in early diagnosis and timely treatment, offering a beacon of hope to families grappling with this devastating condition.”

O’Grady emphasised the urgency of implementing this approval: “We now urge all parties to expedite the inclusion of SMA screening in routine practice for all newborn babies. The decision must be implemented before the end of 2024. SMA Ireland stands ready to assist in any capacity to make this a reality. Time is of the essence. The children born with SMA in the months ahead cannot afford to wait.”

Currently, the nationwide Irish heel prick test fully screens all newborns for eight conditions within the first 72 to 120 hours of birth. Severe Combined Immunodeficiency (SCID), was approved by the Minister for Health Stephen Donnelly for inclusion on 10th January 2023, however, implementation has not been completed.

Vicky McGrath, Chief Executive of Rare Diseases Ireland, has concerns about the urgency of implementation. She remarked: “The Minister for Health, Stephen Donnelly, approved the inclusion of all types of Severe Combined Immunodeficiency (SCID) in the National Newborn Bloodspot Screening Programme in January 2023. In spite of this we still only have partial implementation; only ADA-SCID, a specific subtype, is being screened for. The technology required to fully implement SCID and now SMA are not available in the newborn bloodspot screening laboratory today. It is imperative that we invest in the Newborn Bloodspot Screening Programme immediately. Further delays in full implementation have severe consequences for those newborn babies that are not diagnosed with these debilitating and potentially life threatening diseases until symptoms appear. Full implementation of all current and future Ministerial recommendations must be achieved within 12 months. The HSE must demonstrate leadership and accountability with expansion of this important public health programme for the benefit of all children born in Ireland.”

Aisling Donoher from Laois, mother to four year old Dan who has SMA, said "Treatments for SMA are available and are most impactful when given to babies before symptoms appear. Including SMA in the heel prick test could have made a substantial difference for Dan. It took us several months to get a diagnosis for him by which stage his health had been irreversibly impacted. But, I am so happy for the six babies who will be born with SMA in Ireland every year from now on and their families who will have access to testing within a few days of birth.”


• SMA Ireland is an independent organisation. This activity is supported by Novartis Ireland.
• SMA Ireland was established in 2019 and is a voluntary organisation that serves as the collective voice for the children and adults in Ireland with SMA.
• The Newborn Bloodspot Screening programme or heel prick test in Ireland fully screens for a total of eight conditions and partially screens a further condition, SCID. Currently, one of the types of SCID (ADA-SCID) is screened for; however, the screening for other types of SCID has not yet been implemented.


  • Nikhil Herur

    Hi team,
    I would like to understand how does SCID (ADA-SCID) test help SMA pts Regards, Nikhil

  • Mimi O'Grady

    Huge congratulations to everyone involved who made this possible, especially Jonathan O’Grady!!

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