TV 'super nanny' says doctors dismissed newborn’s symptoms before rare SMA Type 1 diagnosis

Laura Amies, a former Channel 5 child-care presenter, says her concerns that something was seriously wrong with her baby were repeatedly dismissed by health professionals before a private specialist diagnosed the infant with spinal muscular atrophy (SMA) Type 1.

Amies told media she first noticed worrying signs soon after her daughter, Elisabeth, was born — including difficulty latching, lack of interest in feeding, cold mottled skin and episodes when the baby stopped breathing — but that repeated visits to emergency departments and other clinicians produced reassurances rather than investigations. It was only after a private neurology appointment when Elisabeth was seven months old that genetic testing confirmed SMA Type 1, a progressive neuromuscular disease that, if untreated, can severely shorten life expectancy.

Amies, 42, who has worked for more than two decades with infants and appeared on the 2020 series Toddlers Behaving (Very) Badly, described a series of encounters in which clinicians attributed symptoms to common neonatal conditions or to first-time maternal anxiety. She said one early episode in hospital, when she observed her newborn becoming blue and unresponsive, prompted a delayed response from staff who asked whether Elisabeth was her first child.

"From day one I knew that something really wasn't quite right," Amies said. She recounted being told at times that the baby had severe reflux and given medication she says worsened symptoms, and being told clinicians should "think of horses not zebras" — a comment she said was intended to discourage consideration of rarer causes.

Amies said that Elisabeth developed progressive muscle weakness, losing head control and showing declines in physical milestones by about four months of age. Amies sought repeated emergency care for episodes of rapid, labored breathing that medical staff at the time did not link to a neuromuscular disorder. The private neurologist suspected SMA within minutes of an examination and ordered genetic testing that confirmed the diagnosis, Amies said.

SMA Type 1 is caused by a genetic mutation that affects motor neurons in the spinal cord, leading to muscle weakness and atrophy. The condition can be life-limiting; historically, infants with the most severe form have had a life expectancy of less than two years without intervention. Newer disease-modifying treatments, including gene therapies and antisense oligonucleotides, can improve survival and functional outcomes when started early, which is why advocates emphasise timely diagnosis.

Amies has since become an advocate for newborn screening for SMA. In the U.K., the routine blood-spot screening offered at about five days of age does not currently include SMA, a point Amies has cited in calls for expanding screening. Public health authorities have in recent years evaluated adding SMA to newborn screening panels in several countries because early detection allows for prompt treatment before irreversible motor neuron loss.

Experts generally advise that if both parents carry an SMA mutation there is a 25% chance each pregnancy will result in an affected child; population carrier frequency estimates place carriers at about one in 40 adults in some populations. Amies said she and her husband were unaware of their carrier status before Elisabeth’s diagnosis.

Reflecting on the period before diagnosis, Amies described feelings of self-doubt after clinicians repeatedly reassured her. "I started grieving for my baby despite her still being with us," she said. "The amount of times that she could have been treated sooner, and the amount of times that I know people looked at me and thought, silly woman — go on, get yourself home — I genuinely believe that if we hadn't have taken her to the private specialist, I wouldn't have a baby here today."

Amies is urging health services to take parental concerns seriously and to consider systems that flag atypical neonatal signs for further investigation. She has called for either the inclusion of SMA in routine newborn screening or, at minimum, better recognition of early signs among front-line clinicians so testing and referral can occur sooner.

Officials responsible for newborn screening and clinical guidance have previously cited considerations such as test accuracy, cost-effectiveness and the capacity to deliver timely follow-up when deciding whether to add conditions to routine screening. Amies’s account underscores the questions raised when rare conditions are not part of standard early screening and when early symptoms overlap with more common neonatal issues.

Amies said she now uses social media and public appearances to raise awareness of SMA and the potential benefits of early detection and treatment. She said her experience has reinforced for her the importance of listening to parents and ensuring that persistent or concerning symptoms prompt appropriate assessment rather than reassurance alone.

Health authorities and hospital trusts were approached for comment on the specific clinical encounters Amies described and on current screening policy but had not issued a response at the time of publication.