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Health & Medicine

Patients and Doctors From Around The World Dealing With Rare Disease Gather in Syracuse

Katie Zilcosky

Dozens of people with a rare condition marked by potentially cancerous tumors wrapped up a conference hosted by Upstate Medical University this weekend in Syracuse aimed at bringing together patients, physicians, and researchers to discuss the latest advancements in screening and treatment.   The disease is called pheochromocytoma paraganglioma, or pheo para for short.  Jenny Rowan of North Carolina was diagnosed in 2012.  She takes comfort in being able to connect with others who share the condition.

"It's hard to find people who really understand not only what you go through emotionally with it but just the knowledge that you need to get," said Rowan. "And you get a lot from the people who understand. And also just having the physicians here. We call it the brain trust, who are on the cutting edge of research for this disease."

Pheo para causes tumors on the adrenal glands or on the nerves outside the brain and spinal cord.  They can be removed, but also can return and spread.

"I had surgery, and they removed like ten percent of it." said Rowan. "I did feel a little bit better because there is that pressure that being put on your brain and your eye. So I felt better, and I didn't even think about it. And people would say 'Oh, how are you doing?' It wouldn't occur to me that they were referring to the fact that I had this tumor."

Rowan continued, "Then it started to grow again, and then I started having pain again. I went through radiation. Since then, it's on my radar more. I think about it most days. Which is a bummer, because I don't want to."

About two to eight people per million are diagnosed with Pheo para per year.  So, what are the symptoms?  Doctor Gennady Bratslavsky is Chair of Urology at Upstate Medical University.  He says most signs aren’t typically alarming, and doesn’t want people to worry if they might have the disease.

"At the same time these are recurring things," said Dr. Bratslavsky. "People experience several of these symptoms together. Headaches, palpitations, nervousness, anxiety, flushing, on top of high blood pressure. This is what we try to make people aware."

That includes doctors, but Bratslavsky says Central New York physicians are well-educated on pheo para. He says there’s been significant progress in testing and imaging.

"We now use several new molecules to see the tumors better, to see if the tumors have spread" said Dr. Bratslavsky. "This understanding of the tumors lead us to new theraputics, where some novel therapies are available for specific cells that overproduce are targeted by treatments that are now available."

One of the larger concerns about pheo para is that it can be passed on genetically.  Doctor Bratslavsky says they’ve discovered 22 genes that cause the disease, up from just a handful, and that translates to about 40 percent of the cases.  He says they’re trying to educate families on the importance of genetic testing. 

Updated 12:53 pm to include Upstate Medical University as event host and for spelling.