Rensselaer baby battling rare disease, only one in Capital Region

RENSSELAER, N.Y. (NEWS10) — A child in Rensselaer is battling a rare disease that will affect her speech, mobility and doctors said she is only expected to live to her late teens or early 20s. Her family is looking for the public’s help to spread awareness and one day save children like Poppy.

Like many five-month-old babies, Poppy Parkinson loves to jump, grab onto everything she can and babble nonstop. Her parents Samantha Clark and Kyle Parkinson said a smile almost never leaves her face.

“She wakes up and she doesn’t cry when she wakes up and she just kind of like makes her noises until I come get her and then I go, ‘Good morning Poppy,’ and she giggles,” said Clark. “She is the happiest baby, you would never think anything is wrong,” said Parkinson.  

However, there is one thing about Poppy that makes her stand out from other babies. At just three months old, Poppy was diagnosed with a rare disease called Ataxia Telangiectasia, otherwise known as A.T. — a disease that will forever change her life.

“It’s very emotional, sorry I don’t mean to cry, it’s very emotional because just, you know, when you have a child you never think anything bad is going to happen you think she’s going to be totally normal,” said Clark.

However, normal, is no longer a wish they can make. A.T. is a rare disease that affects the brain and immune system of a person. According to Mount Sinai Hospital, the disease is caused from a variant in the ATM gene. Both parents must have a copy of a nonworking gene for the child to have this disease — which Samantha and Kyle later found out they both do.

Furthermore, a study published in the National Library of Medicine, showed that this happens between one in every 40,000 to 300,000 births. There are believed to be only about 500 people in the U.S. with this disease. Clark said the problems were detected in a newborn screening shortly after Poppy was born.

“We were just hoping and praying it was something different,” said Parkinson. “She, as of right now, is the only person in the Capital Region diagnosed with this disease,” said Clark.

Clark said at first, none of her doctors knew what the disease was. Right now, Poppy gets infusions every 10 days to keep her immune system healthy and ready to fight any illnesses.

“I think the worst part is that she doesn’t have any physical symptoms yet and just knowing what’s coming ahead is the part that sucks,” said Clark.

Doctors said the problems will start when Poppy learns to walk and talk. Poppy could have slurred speech, difficulty coordinating her eyes and various fine motor deficits. Doctors said she will also develop spider-like veins in her eyes and on her skin.

“She will lose her ability to walk so they say about age 10 is when she will require a wheel chair,” said Clark.

Clark said about 70% of kids with A.T. have immunity problems, and Poppy is one of those. Children with A.T. are also more about 40% susceptible to cancers including Leukemia and Lymphoma. According to Poppy’s doctors, the typical lifespan of someone with Ataxia Telangiectasia is between late teens and early 20s.

“A lot of people see Poppy like a lot on social media and they think she’s the happiest girl, she really is, but no one really knows what goes on behind closed doors,” said Clark.

With limited time, Clark and Parkinson are trying to give Poppy the best life they can imagine.

“We want to make sure she knows she’s very loved,” said Clark. “Just to know that she’s loved, forever, I mean every single day, when she wakes up to when she goes to sleep, that she’s always loved. She’s got a good team,” said Parkinson.

As part of the national A.T. Children’s Project, there will be a 5K Run/Walk held in October in Texas. Poppy and her parents will not be traveling to Texas, but instead they made a virtual team to raise awareness for A.T. Clark and Parkinson are encouraging people to create an account and join “Team Poppy” using the website link here.

Clark and Parkinson also started a GoFundMe page to help with Poppy’s needs. Although doctors said there’s no cure, there are plenty of clinical trials. Anyone interested in donating can find the page here. To keep up with Poppy’s journey, visit ‘Poppy’s Trail’ Facebook page here.

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(Except for the headline, this story has not been edited by PostX News and is published from a syndicated feed.)