Others learn they have rare blood disease after seeing man's story on TV

Thursday, November 14, 2019
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Others learn they have rare blood disease after seeing man's story on TV

OKLAHOMA CITY -- Have you ever heard of porphyria? The rare blood disease affects about 6 in 1 million people.

Not many people know that they have porphyria but some people found out about their condition after watching a story on Oklahoma ABC affiliate KOCO back in May.

"We have gotten eight phone calls in the last about four months since the story first came on," Dr. Sanjaykumar Hapani told KOCO.

Hapani is one of the few people who understands the blood disease.

"This is an extremely difficult disease to diagnose," Hapani told KOCO.

In May, KOCO 5 told the story of Colin McEwen.

He said the disease caused him to experience hallucinations and insomnia. His hands even stopped working.

"It kind of feels like your intestines are being eaten by a bear, to be honest," he said.

At the time, Hapani had two patients with the blood disease. Since the story aired, he has four, including Courtney Mathia.

"It was a lot over the last few years," Mathia said. "I got extremely sick and was throwing up up to 36 hours with unrelenting vomiting. I would have crazy amounts of pain. I would feel like my insides were just being ripped apart."

While the source of McEwen's symptoms were a mystery for years, Mathia knew she had porphyia. Her grandfather also had it.

But getting a doctor to treat it was difficult.

"A lot of them either just didn't know about it, would ask me, 'Oh, what's that?'" Mathia said. "I've had doctors tell me things like, 'Oh, how do you spell that?'"

After many trips to the emergency room, she found Hapani through McEwen's story. Mathia said that it was life-changing.

"I can't say enough how much he's changed mine," Mathia said.