My baby looked perfectly healthy but her newborn screening test was read wrong – she’ll lose the ability to walk & speak

A MUM has told how her baby daughter’s newborn screening test revealed she might need a bone marrow transplant, only to discover it was read wrong. After doctors realised their mistake, they discovered that Poppy actually had a rare genetic condition that will eventually take away her ability to speak and eat. Poppy was diagnosed with a rare genetic condition when she was a baby Credit: Jam Press Pictured with her mum Samantha, Poppy has an incurable disorder that affects her ability to move, talk and eat Credit: Jam Press Poppy, now 17 months, was diagnosed with Ataxia-Telangiectasia (A-T) – an incurable genetic disorder that affects balance, coordination, the immune system and has a cancer risk – in May 2025, after months of frightening uncertainty. While the toddler currently looks happy and healthy, the condition will tragically rob her of her mobility, independence and possibly even decades of her life. Sign up for the Health newsletter Thank you! Mum Samantha Clark, 28, said that despite the devastating diagnosis, there were no symptoms leading up to the doctors’ discovery. “The diagnosis came as a complete shock. None of us had heard of A-T before,” she said. “I was very newly postpartum, so at the time it was very difficult to wrap my brain around this during the testing process.” A-T targets the nervous and immune systems, as well as other systems throughout the body, and is a neurodegenerative condition. People with the disorder usually have difficulties with movement and coordination from early childhood, as well as issues with speech. It is estimated that around one in every 40,000-100,000 people worldwide have the condition. Most read in Health Speaking about their lengthy diagnosis process, Samantha, from Malta, New York, said: “Poppy failed the newborn screening in the area of severe combined immunodeficiency – which causes major abnormalities in the immune system. “We were told to keep her and myself in strict isolation as they believed she had no immune system. Poppy had no symptoms leading up to her diagnosis, making it even more of a shock for her parents Credit: Jam Press AT is so rare that even Poppy’s doctor hadn’t heard of the condition before Credit: Jam Press “Our paediatrician thought it was Severe Combined Immunodeficiency (SCID) and was preparing us for the possibility Poppy would need a bone marrow transplant. More testing was carried out on Poppy but just days later, everything changed again. The family got a call saying the results of Poppy’s test had been read wrong, so new tests were necessary, which revealed other abnormalities. Samantha, an occupational therapist, continued: “Our immunologist then ordered a genetic test. “When the results came back, they revealed two ATM gene variants [in Samantha and Kyle] – the ATM gene normally helps repair damaged DNA. “Then Poppy was officially diagnosed with AT.” Speaking about this heartbreaking news, the mum said: “I always felt invincible, never thinking anything bad could happen to myself or baby. “At first it was truly hard to process that something was wrong with our daughter. “We thought the worst thing that could happen was her needing a bone marrow transplant. “Friends and family were reaching out to us to get tested. The wait for answers only added to the agony. “When we got the results of her genetic test, we initially didn’t receive a phone call. We waited 48 hours for someone to call us back to explain the results. “I truly didn’t know what any of this meant. It was essentially big words on a report before we heard from the doctor. There is sadly no cure for AT and the condition increases people’s risk of cancer Credit: Jam Press What is Ataxia Telangiectasia (AT)? Ataxia Telangiectasia or AT, is a rare and complex genetic disorder, affecting a number of different systems within the body. It gives increasing physical disability, while deficiencies in the immune system can lead to frequent colds and infections and the gradual emergence of lung problems. There is an increased risk of cancers, particularly leukaemia and lymphoma, while sensitivity to radiation means that radio-therapy should be avoided and x-rays kept to a minimum. AT is caused by a defect, known as a ‘mutation’, on a particular gene, known as the ATM gene. A child born with mutations on both copies of the ATM gene cannot produce a protein, called the ATM protein, which is important in many processes in the body’s cells. Some cells are particularly sensitive to this lack of ATM, and either don’t work properly or die off. This gives rise to the various symptoms of AT. Source: AT Society “The disease is so rare that even our daughter’s immunologist had not seen AT before.” Sadly, there is currently no cure for AT and to add to that, it increases the risk of serious infections and cancer. Doctors have warned the family that Poppy faces an increased risk of chronic lung disease, lymphoma and leukaemia. The disorder is already affecting Poppy’s core strength, her parents say. Her mum said: “AT will begin to progress, causing her to be very wobbly and lose her balance. “She will be wheelchair bound by age 10. Speech difficulties can start in the second decade of life. “AT can cause a person to lose the ability to speak and eat.” “Poppy will lose the ability to independently take care of herself, requiring a lot of physical support. “Life span can be late teens to early 20s but there are people out there with AT living much later. “You can never compare one person to another because everyone has different variants. It’s so hard to tell.” For now, Poppy receives weekly antibody infusions because her body can’t produce enough on its own. Speaking about her daughter’s illness, Samantha said: “I want people to learn about this disease and teach their children about kids like Poppy. No one knows a lot about it. “I want to make sure people don’t feel as alone as we did. “Poppy will appear different but deep down inside, she’s just another child. “I want people to learn about her disease because awareness leads to funding and research and potentially a cure.” Comment now