Test all babies for rare genetic disease SMA, parents urge

Two children with a rare genetic condition will live very different lives because one was tested at birth and the other was not, their parents say.

Five-year-old Marley and four-month-old Meadow both have spinal muscular atrophy (SMA), a progressive muscle-wasting disease that can lead to death within two years if left untreated.

But while Marley, who was diagnosed at five months old, can’t walk or talk and needs help breathing, Meadow meets all her age-appropriate milestones after being tested at birth and receiving life-changing gene therapy at the first opportunity.

Their parents, Rosie and Wes, Officials from Driffield, East Yorkshire, are calling for all babies to be screened for the condition.

“The sooner you learn about neonatal SMA, the sooner your life will turn around,” says Rosie.

“Marley has complex needs and requires full attention in daily life. Meadow will live a completely normal life and will require almost no breathing support.”

The couple are backing a campaign by the charity SMA UK, which is calling for the disease to be added to a blood test that already checks newborns for 10 rare but serious conditions.

Currently, SMA screening is only performed on people who have a sibling with the condition.

An estimated 47 babies will be born with the disease in the UK in 2024, but around 1 in 40 carry the altered gene that can cause the disease, according to the charity.

Rosie and Wes say their world “collapsed” when Marley was diagnosed with SMA at five months old.

“Marley needs respiratory support every day,” says Rosie. “He is fed through a tube because he cannot eat by mouth.

“He wears a respirator at night. He can’t walk or talk.”

Marley was given Zolgensma, A life-changing gene therapy drugIn 16 months.

According to SMA UK, the drug delivers a healthy copy of the affected gene into the body, but timing is critical because irreversible damage to the nervous system may already have occurred.

Rosie and Wes say this means early detection of SMA is crucial to giving children the best possible quality of life.

The medication was given to Meadow within a few weeks of her birth.

For Rosie, hearing her daughter’s diagnosis was “a very difficult pill to swallow.” But he is now reaching developmental milestones.

“At four months he was already rolling forward and forward,” says Rosie.

In 2018, the UK National Screening Committee (NSC) recommended against SMA screening for the NHS, citing limited evidence on long-term treatment outcomes and cost-effectiveness.

But in the last few years He reviewed the decision Because of “significant advances” including new drugs. Further evaluation studies are planned within the NHS.

Meanwhile, in Scotland, testing of all babies is expected to begin in 2026 under a two-year pilot programme.

SMA UK’s Portia Thorman believes it would be “ethically wrong” not to introduce UK-wide screening.

“I think if you’re faced with a diagnosis now, you can be filled with hope,” he says.

“Children are being diagnosed much earlier than before, and there are three great drugs that work incredibly well. These children have a bright future.”

Laurent Servais, professor of neuromuscular diseases at the University of Oxford, conducted a study of newborn screening based on programs in other countries, such as Belgium.

“In the USA, Europe, Japan and Australia, every baby is screened for SMA at birth, even if there is no case in your family,” he says.

A similar approach in the UK means children can be “immediately treated and given a completely different future”.

Prof Servais argues that newborn testing is “extremely easy to perform” and that the effectiveness of the treatment will outweigh the cost of screening.

A Department of Health and Social Care spokesman said: “The UK National Screening Committee has recommended a large-scale study to screen for spinal muscular atrophy in newborns to gather more evidence.

“This is under evaluation and we are working closely with families and campaigners as part of this.”

Although Marley was not diagnosed at birth, his parents say he has made incredible progress thanks to medication and physiotherapy.

“He’s doing really well. When he first came here he couldn’t sit up unaided. [to therapy]but now he can sit for three minutes without help,” says Rosie.

Marley also started regular school and can “sit in his chair in class and be like the other kids.”

But Rosie and Wes know Meadow’s early test means her life will likely be very different from Marley’s.

“I think the guilt that eats away at me, my partner and other SMA families is overwhelming,” says Rosie.

But she adds: “If you have a child diagnosed with SMA, their condition will improve.”