Medical condition often gets misdiagnosed

Jenni Fineberg is a mom who enjoys tennis and horseback riding, but shortly after her first pregnancy, her health took a confusing and painful turn with severe stomach attacks.

"I would say the pain lasted anywhere from seven to 10 hours, curled up on the bathroom floor in between intense vomiting," said Fineberg.

The recurring symptoms were similar to food poisoning, but it would be nearly a decade before Fineberg would learn the true diagnosis. Allergy specialist Joshua Jacobs, M.D., says her devastating internal swelling was caused by a condition known as hereditary angioedema, or HAE.

"Patients will have swelling in the extremities, so they have can have swelling of hands, of their face," said Jacobs M.D.

These photographs show the painful magnitude of an HAE attack. Swelling so severe it can temporarily disfigure facial features or bulge the stomach and intestines wildly out of shape. Even worse, is the danger of misdiagnosis.

"So it's not uncommon that patents with hereditary angioedema will be misdiagnosed as having an abdominal emergency such as appendicitis, and historically about 30 percent of them have had unnecessary surgery," said Jacobs.

The condition, caused by a missing protein. It is rare, with just 5,000 to 10,000 patients identified in the U.S. Typically, that small of population might not lure the interest of major drug companies, but after decades of having few options, patients are watching a wave of new drugs hit the market.

"We now have four treatments which are available for patients and so it can really positively affect their quality of life," said Jacobs.

One new drug, called Kalbitor has cut Fineberg's attacks down from hours to minutes. Another called Cinryze can help ward off attacks in some patients.

"So it's very important to make a diagnosis," said Jacobs.

The new drug treatments can cost thousands of dollars. For Fineberg insurance covers most of hers and the effects have been life changing.

"I'm not able to inject it myself, I do have to go to a hospital and have it done, but it's a world... it's huge," said Fneberg.

There's new found hope for these patients. There are support groups that can help with this condition.

Copyright © 2024 KGO-TV. All Rights Reserved.