Brave girl inspires research on rare chromosomal disorder | The Big Idea

Posted Jun 17 2019 10:36PM EDT

Video Posted Jun 17 2019 10:34PM EDT

Updated Jun 17 2019 10:38PM EDT

NEW YORK (FOX 5 NY) -

Karina Shah, 6, has a song in her heart and a beat in her feet. But in truth, it's her smile that lights up the room.

"She hugs you with no strings attached and I don't think anyone does that," Bina Shah, Karina's mother, said. "She doesn't want anything back from you."

Karina is special for so many reasons. Even more so, when you examine her genetic makeup. She is one of just 80 children in the world with Chromosome 8p, officially known as Chromosome 8p–inversion, duplication and deletion.

Chromosome 8p is rooted in basic genetics. Humans are comprised of strands of DNA. Within those strands are chromosomes. Most people carry 46. And within chromosomes are genes.

Karina's eighth chromosome has a severe abnormality. A big chunk is not there, Bina said.

That missing piece causes Karina cognitive delays, muscle atrophy and the potential for digestive, psychiatric and epileptic concerns. She has needed roughly 1,200 hours of physical therapy to learn to walk.

It is a bleak-and frightening diagnosis given by doctors who are working with outdated information. They can't say with any measure of certainty how Karina's life will unfold.

"You go to all these specialists and you are asking for help and you are almost begging and saying 'Please you're the expert. Please just spend an extra hour and try to help me," Bina said.

"Families often times with rare genetic conditions feel alone and isolated, not like other kids on the block," Dr. Wendy Chung said. "They aren't like the other kids in school it can feel like they have no guidance and they are lost in the wilderness."

Chung is a world-renowned geneticist with Columbia. She takes only the toughest cases—the ones other physicians disregard. She provides the strength that so many families long for. But when it comes to Karina, it seems to be, the other way around.

"Karina is a trouper, every day, working to be the best she can be in that," Chung said.

Allowing Karina to reach her full potential may come from manipulating her DNA, which would be a feat that could benefit Chromosome 8p patients worldwide. But also to those with Alzheimer's disease, autism, Parkinson's disease, and bipolar disorder.

"We are entering a brand new phase of medicine and we are looking at targeting genes and molecules that, at least in my lifetime, we haven't had the opportunity to do before," Chung said.

Part of the problem is that a Chromosome 8p database, research program, and clinical trials do not exist. The last known study was concluded 25 years ago.

That has haunted the Shahs since Karina was diagnosed.

"I mean obviously the goal is it's your daughter, and do the best for her, figure it out and help a larger group of people to help because of her," said Mehul Shah, Karina's father.

The Shahs' quest to help began in Chung's office with the goal of better understanding 8p. The Shahs asked Chung for a research proposal.

"We reviewed it and we said our family is going to do this," Bina said. "Let's self-fund this to kick it off."

And kick it off, they did.

In order for this to work, Bina needed to find 100 families with some variation of Chromosome 8p. So she turned to Facebook. And Project 8p was born. It is a comprehensive research group that aims to alleviate the uncertainty surrounding such a rare disorder.

Later this month, for the first time, 50 patients with some variation of Chromosome 8p will gather in New York City to compare notes. The Shahs funded the conference, which is drawing people from Slovenia, Australia, Germany, England, France, and elsewhere.

The Shahs say this is a chance to see what Karina could become. For Chung, it is a chance to compare notes and observe the largest group of 8p patients ever assembled. And hopefully, to enact change.

This journey started with Karina, a little wonder, and her indomitable spirit.

"I'm not going to set limits on Karina," Chung said. "She is going to go to the moon and have all of the help to get there."

"We're blessed to have her," Mehul said. "She's so loving, makes day to day great."

Though she be but little she is fierce.

Project 8p Foundation

Brave girl inspires research on rare chromosomal disorder | The Big Idea

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