Man's self-diagnosis a life saver from rare disease -

Man's self-diagnosis a life saver

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Cincinnati native Rich Clifton spends his days tinkering with hot rods as a hobby, however, it used to be his handicraft. He spent 17 years running his own automotive repair shop, but had to give up that career in 2008.

"I didn't want to do that at first," said Clifton. "I struggled with it for a couple of years, and then just decided it was too much for me to work 45 hours a week and deal with this disease."

Clifton is talking about a disease that doctors struggled for months to diagnose.

Clifton's body would swell-- his face, hands, feet, and stomach expanding to disfiguring levels and without warning.

"I mean this is a nasty disease," Clifton said. "It's horrible."

For one year, the then 53-year-old was tested for everything from cancer to Rheumatoid Arthritis. He finally diagnosed himself with Hereditary Angioedema or HAE.

"I actually figured it out by myself on the Internet," said Clifton. "This disease is so rare you could go to 15 different doctors and never even catch it."

That's because only about one in 40,000 people have it.

The disease is normally passed down from parent to child, but not in Clifton's case. Dr. Jonathan Bernstein discovered Clifton had a mutated gene.

"These attacks are frequent in some patients," said Dr Bernstein. "[The attacks] can affect the stomach where they have abdominal swelling and pain, peripheral extremities swelling, they can have swelling of their genitalia. In the more ominous situation, they can swell in their neck and their throat. This is what can lead to potential asphyxiation or death."

HAE is not curable, but it is treatable. Clifton now takes two medications. He said Firyzir tackles the attacks within hours.

"There are many options now," said Dr. Bernstein. "Five years ago, there were no treatments like this."

Though not perfect, life is currently better for Clifton. He's able to travel. He and his wife visited their son in California for the first time in three years.

"I thought it was going to kill me," said Clifton. "Before I met Dr Bernstein, I thought I would die from this."

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