Local family raising awareness for Rare Disease Day on February 29th

PHILADELPHIA (WPVI) -- February 29th is Rare Disease Day - a day aimed at spotlighting the more than 6,000 rare diseases.

Many people with these ailments struggle to get a diagnosis, let alone treatment. One local family is working to help change that.

It was a warm welcome at the Thomas house by Owen and big brother Michael.

Owen is 2 years old and looks like a big kid, but that's actually one sign of a rare disease.

His mother Theresa knew before he was born something was different.

"I just felt like he was really large, I felt him everywhere," she said.

He was born just shy of 12 pounds, also with a very large tongue - another tell-tale sign of Beckwith-Wiedemann Syndrome, or BWS. It's named after the doctors who discovered it and affects about one in every 10,000 babies.

"I was overwhelmed, like really overwhelmed," said Theresa.

Theresa says it was difficult at first to find information, so her husband Mike encouraged her to write about it.

She created a blog, LargerThanBWS.com and soon she was connecting with families across the globe who were also dealing with BWS and looking for support.

Dr. Jennifer Kalish at Children's Hospital says many times, that's how families with rare diseases find help. She runs the BWS Clinic at CHOP.

Theresa is grateful to have someone close who knows how to help, knowing others don't.

She shares her experience on the blog about how Owen had to have tongue reduction surgery and now is frequently scanned for cancer because kids with BWS have a greater risk.

Dr. Kalish says Rare Disease Day helps bring awareness, and much more.

As we gather more and more together, and we see similar trends that's how we can move the field forward," she said.

At CHOP, they created a registry and study genetic changes.

"So by understanding this rare disease, we could actually find information for many other diseases, and that's true for many rare diseases," said Dr. Kalish.

Theresa says BWS doesn't hinder or define Owen, but like many people with rare diseases, he does need extra care.

Families can sometimes feel like they facing a lonely, uphill battle.

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