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Local teen with rare disease raises money for medical studySubmitted: 06/29/2014
Story By Karolina Buczek

Local teen with rare disease raises money for medical study
RHINELANDER - Medical research can help patients and their families understand a disease. But some diseases are so rare that there's not much help out there. A Rhinelander teen with a very rare disease wants to change that.

Arterial Tortuosity Syndrome affects less than 30 people in the world. Collin Schmieding from Rhinelander is one of them.

"Collin is one of the oldest documented living people with the disease and he's 18 now," said Collin's mother, Julie Larson.

ATS is difficult to diagnose. But the symptoms are similar in some people who have the disease.

"It's a disorder of lack of collagen which allows the veins and arteries to grow very tortuous and twisted throughout the body," said Larson.

People with ATS have a high risk of having an aneurism.

"They don't play sports, they don't go jogging, they don't do anything very physical for the fear of having an aneurism," said Larson.

Collin and his family didn't know anyone else who had the disease. A few months ago, they found a Facebook page for ATS. They were able to give advice to other families.

"I was able to share information. It wasn't all positive but it at least gave them some answers to their unknown questions because their kids are a lot younger than what my son is," said Larson.

The families started a non profit so they can send their kids to the Arkansas Children's Hospital for a genetic testing study.

"It's a combination of excitement and nervousness, just wondering generally what's going to happen," said Collin Schmieding. "It's just going to be so interesting to talk and interact with other people like me."

The family held a local benefit to raise money for the trip. They believe this study can help people understand the disease.

"It's been great to see the community come together for something we really need to have done. I know there's probably a lot more people out there that are undiagnosed at this time and we're hoping that with our case study, they can get a proper diagnosis," said Larson.

Collin hopes the benefit will let people know more about ATS.

"I just want people to know about this. It's such a strange reaction when I tell people [I have] ATS. It's just a giant question mark above their head," said Schmieding.

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