A MUM has told how her baby daughter’s newborn screening test was read incorrectly and her little girl was later found to have a devastating disease.

After doctors realised the mistake, they discovered that Poppy actually had a rare genetic condition that will eventually affect her ability to speak and eat, and could prevent her from living past her teenage years.

Poppy, now 17 months, was diagnosed with Ataxia-Telangiectasia (A-T) – an incurable genetic disorder that affects balance, coordination, the immune system and carries a cancer risk – in May, after months of frightening uncertainty.

While the toddler currently looks happy and healthy, the condition may eventually affect her mobility, independence and potentially shorten her life.

Mum Samantha Clark said that despite the difficult 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 affects the nervous and immune systems, as well as other systems throughout the body, and is a neurodegenerative condition.

People with the disorder usually develop 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.

Speaking about their lengthy diagnosis process, Samantha, from Malta, New York, said that Poppy had failed the newborn screening test.

The family thought at worst, she had an immune condition that may 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 incorrectly and new tests were necessary, which revealed other abnormalities.

Samantha, an occupational therapist, said: “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.”

An 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,” says Samantha.

“Then Poppy was officially diagnosed with A-T.”

Speaking about this heartbreaking news, the mum said: “I always felt invincible, never thinking anything bad could happen to myself or baby.

“Friends and family were reaching out to us to get tested. The wait for answers only added to the worry.

“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.

“The disease is so rare that even our daughter’s immunologist had not seen A-T before.”

Sadly, there is currently no cure for A-T 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: “A-T will begin to progress, causing her to be very wobbly and lose her balance.

“She may be using a wheelchair by age 10. Speech difficulties can start in the second decade of life.

“A-T can cause a person to lose the ability to speak and eat.

“Poppy may 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 A-T 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.”