Toddler Looks ‘Perfectly Healthy,’ but Family Know Heartbreaking Truth

0 Share Newsweek is a Trust Project member See more of our trusted coverage when you search. Prefer Newsweek on Google to see more of our trusted coverage when you search. A mother has shared the heartbreaking reality of watching her toddler develop symptoms of a rare genetic condition that most people, including many medical professionals, have never heard of.

Samantha Clark, 28, an occupational therapist from Malta, New York, said her 17-month-old daughter Poppy appears completely healthy to those around her. But behind the scenes, the toddler is living with Ataxia-Telangiectasia (A-T), a progressive disorder that affects balance, coordination, the immune system and cancer risk.

"Some people can't believe she has it because she looks perfectly healthy," Clark told Newsweek . "If I didn't tell you, you'd never know."

Today, Poppy receives weekly antibody infusions because her body cannot produce enough antibodies on its own.

"Even a simple sickness can put her into hospital," Clark said.

Doctors have warned the family that Poppy faces an increased risk of chronic lung disease , lymphoma and leukemia. The condition has also begun affecting her mobility.

Three weeks before speaking to Newsweek , experts from The Johns Hopkins University School of Medicine noticed symptoms emerging.

"I can't believe it's already happening," Clark told Newsweek : "Watching my daughter progress with this disease in real time is the worst thing. Poppy is unsteady and uncoordinated. It's affecting her core strength. She starts leaning back already, which is a sign of the disease."

While Poppy reached all of her developmental milestones on time and currently walks independently, her mother knows that will become increasingly difficult.

According to the National Ataxia Foundation, the disorder is estimated to affect between one in 40,000 and one in 100,000 people worldwide.

Symptoms typically begin in early childhood and progressively worsen over time. Many people with A-T eventually require a wheelchair, and serious complications can include cancer, infection and chronic lung disease. There is currently no cure.

Despite the uncertainty surrounding Poppy's future, Clark remains determined to give her daughter the best life possible.

"We will give her everything possible, making our home compliant so she can live a normal life for as long as possible," she said.

Although A-T is associated with a significantly shortened lifespan, Clark says every case is different.

"There are people out there living much later. You can never compare one person to another because everyone has different variants. It's so hard to tell."

"All we can do is make her as happy as possible."

Clark describes Poppy as a happy toddler with a huge personality.

"Right now, she is a talker and very funny. She loves life," she said. "She loves walking, standing, all of the things she isn't going to do one day. She is sassy with lots of personality."

The first warning signs appeared shortly after Poppy was born.

Clark's pregnancy was largely uneventful, apart from two episodes of high blood pressure that led doctors to induce labor at 38 weeks. Then, within 24 hours of Poppy's birth, a routine newborn screening raised concerns.

"She didn't pass the severe combined immunodeficiency (SCID) screening and they had to redo it," Clark said.

A week later, the results came back even more concerning as she failed again.

Doctors suspected an issue affecting Poppy's immune system and advised the family to isolate for three months while they searched for answers.

The months that followed were filled with uncertainty.

"I was recovering from a C-section and nothing made sense. We were terrified," she said. "It was lonely and very depressing."

Doctors carried out extensive testing of Poppy's immune system. While some immune cell levels were low, early results suggested the cells themselves were functioning normally.

Further testing revealed that Poppy was missing CD19 cells, a protein found on the surface of B cells. The finding prompted doctors to order a genetic panel screening for 429 genes associated with immune disorders.

The results eventually revealed the cause: Ataxia-Telangiectasia.

The diagnosis also uncovered information about the wider family. Clark and her husband, 28-year-old Kyle Parkinson discovered they both carry the ataxia-telangiectasia mutated (ATM) gene.

"Poppy has two. She inherited one from each of us," Clark said.

The ATM gene mutation is linked to A-T and can increase cancer risk in carriers. Clark said she will require increased breast cancer screening from age 30.

"My sister and dad have since tested and they have the variant too," she added. "I don't know about Kyle's side."

Clark hopes that by sharing Poppy's story, more families will become aware of the condition and feel less alone.

"No one knows a lot about it," she said previously. "I want to make sure people don't feel as alone as we did."

Contact Newsweek editors for this story: Charlotte Nisbett and Anthony Murray .