TV 'super nanny' says doctors dismissed her concerns before daughter was diagnosed with SMA Type 1

Laura Amies, a television presenter and experienced infant specialist, says she repeatedly warned health professionals that her newborn daughter was unwell before a private neurologist diagnosed spinal muscular atrophy (SMA) Type 1 when the child was seven months old.

Amies, 42, told reporters she noticed problems from the first days after birth, including episodes in which her baby’s lips and skin went blue and the baby appeared to stop breathing. She said midwives and doctors frequently reassured her that the signs were normal for newborns or attributed symptoms to conditions such as reflux, and that her concerns were sometimes dismissed as the anxieties of a first-time mother.

According to Amies, the infant, Elisabeth, showed a cluster of worrying features: difficulty latching and feeding, a lack of interest in feeding, pale and cold feet described as "almost translucent," deep purple mottling of the skin on arms and legs, increasing congestion, episodes of rapid, shallow breathing, and a loss of head control and slowed physical development by about four months. She said repeated trips to accident and emergency departments and consultations with NHS clinicians did not produce a diagnosis and that some treatments initially prescribed — including medication for reflux — appeared to worsen the child’s condition.

Amies said a private neurologist suspected SMA within 10 minutes of an appointment and a subsequent genetic test confirmed SMA Type 1. She described immediate grief on learning the diagnosis and said she believed earlier recognition would have changed the family’s trajectory because early diagnosis and treatment improve outcomes for infants with SMA.

SMA is a genetic disorder caused by loss of motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. Historically, infants with Type 1 SMA, the most severe form, faced a life expectancy measured in months to a few years without treatment. Advances in disease-modifying therapies, including gene therapy and other targeted treatments, have altered the clinical outlook for some children when started early, making time to diagnosis an important factor in possible benefit.

Amies, who has more than two decades of experience working with infants, several child psychology qualifications and is the author of infant-care material, said she became the target of "patronising" responses from some clinicians. She recounted being told that clinicians should first assume common causes — a maxim often phrased as "if you hear hooves, think horses, not zebras" — and said she left appointments doubting her own judgment. She also described an episode shortly after birth in which she had to insist a nurse check the baby when the infant’s skin turned blue; she said a staff member initially responded by asking whether the baby was her first child.

Amies said the family pursued private care after months of mounting worry and an emotional breakdown. She believes that without the private referral, her daughter may not have survived. Since the diagnosis she has campaigned publicly for newborn screening for SMA and used social media to raise awareness of early signs.

The UK newborn blood spot screening programme, typically offered around five days after birth, currently screens for a panel of disorders but does not include SMA. Public health experts and patient groups have called for expansion of newborn screening in many countries to include conditions for which early treatment changes outcomes. Carrier frequency estimates for the gene that causes SMA vary by population, but many public health statements note carriers are not uncommon, and that parents who are both carriers face a 25% chance with each pregnancy that a child will inherit the disorder.

Early detection matters because available therapies are most effective when administered before significant motor neuron loss. Treatments approved in recent years include a single-dose gene replacement therapy and other agents that increase production of the survival motor neuron (SMN) protein. Clinical guidance and screening policies differ between countries and are periodically reviewed by health authorities.

Amies said she wants clinicians to take parents’ concerns seriously and for systems to flag early warning signs so that babies can be referred for diagnostic testing without delay. She argued that either universal newborn screening for SMA or a protocol ensuring that persistent parental concerns prompt targeted testing would reduce the risk that affected infants are missed during the narrow window when early treatment has the greatest potential benefit.

NHS representatives and hospital trusts did not provide comment for this article. Health authorities have previously said that any changes to national screening programmes are considered by expert committees that weigh the benefits, harms, logistics and costs of adding conditions to existing panels.

Amies continues to campaign for change while caring for her daughter, whom she described as "a prisoner in her own body" because of the progressive muscle weakness that limits movement and breathing. She said she hopes sharing her experience will encourage clinicians to listen more closely to parents and prompt policy makers to review screening priorities for newborns.