Parents call for babies to be tested for rare muscle condition 1 month ago

Parents call for babies to be tested for rare muscle condition

Experts have underlined the importance of early diagnosis.

The parents of two children born with Spinal Muscular Atrophy (SMA) are calling for babies to be tested for the rare condition in the heel prick test.


As RTÉ reports, Liz McMahon and David Ryan are campaigning for early testing after they noticed how their younger son benefited greatly from early diagnosis and treatment in contrast with their older son, who received his diagnosis later.

Four-year old Luke, who was diagnosed with SMA when he was nine-weeks-old, requires round the clock care, a night nurse and tube-feeding. He also cannot walk. His younger brother Seán, who was diagnosed with SMA before he was born, lives a "largely normal life".

According to MedlinePlus, SMA is a group of genetic diseases that damages and kills motor neurones. This leads to muscle weakness and wasting, which gets worse over time. SMA can affect speaking, walking, swallowing and breathing. There is currently no cure for the condition, but some treatments can help patients manage symptoms and prevent complications.

McMahon and Ryan's call for routine SMA testing in babies is echoed by consultant neurologist Dr Declan O'Rourke.


"Children's Health Ireland strongly supports the addition of SMA to the newborn screening programme," Dr O'Rourke said.

"Early treatment is game-changing and the effects on the quality of life are really incredible."

The director of SMA Ireland, Jonathan O'Grady, has also called for routine testing of SMA in babies during the heel prick test. He pointed to the progress that has been made in terms of SMA treatment over the last few years, and reiterated the importance of early diagnosis.


He told RTÉ that he wants to ensure that the next child born with SMA is "diagnosed promptly and treated immediately".

In Ireland, babies receive heel prick tests when they are just a few days old. The blood test screens for a number of conditions, including cystic fibrosis, congenital hypothyroidism, phenylketonuria, classical galactosaemia and glutaric aciduria type 1.