FOCUS ON HEALTH:Preventing needless pain

As a child, dealing with her father’s frequent nosebleeds was difficult for Debbie Drysdale, but she didn’t know the gravity of the situation until she started experiencing them herself years later.

She had suffered severe nosebleeds and had visited a dozen ear, nose and throat doctors. But it wasn’t until 1999 that Drysdale, 53, learned that the symptom was the result of a potentially fatal, but treatable genetic disorder called hereditary hemorrhagic telangiectasia, or HHT.

After undergoing multiple treatments, the Newport Beach resident has since committed herself to increasing education and awareness of the disorder, devoting more than 20 hours each week to her position on the board of directors of the Maryland-based Hereditary Hemorrhagic Telangiectasia Foundation International, a nonprofit organization that supports patients and their families and educate medical professionals about the disorder.

“My goal is that there will be improved treatment and management for myself, my children and everybody who has HHT,” she said, “and I hope for the improved education of physicians so that they can identify HHT because there does not have to be any loss of life.”

The multi-system blood vessel disorder leads to cerebral and pulmonary arteriovenous malformations or AVMs — essentially a tangle of veins and arteries that compromises the flow of blood and oxygen in the body and potentially causes stroke, hemorrhage or death — as suffered by U.S. Sen. Tim Johnson (D-S.D.), producing his stroke in December.

Additionally, the disorder causes more minor vascular malformations in the nose, liver and gastrointestinal tract, expressing itself in nosebleeds, bleeding in the gastrointestinal tract and telangiectases, or spider veins, in the skin of the hands, face and mouth.

It is passed on as a dominant gene, half of children of a parent with the disorder will inherit it. About one in 5,000 people have from it, or 1.2 million worldwide, though 90% undiagnosed because of a lack of awareness, according to the foundation.

“When people go in for problems, they are only treated for their immediate symptoms because of the fragmented healthcare system,” said Marianne Clancy, the foundation’s executive director. “Many times they are treated for nosebleeds and the doctors never think they could have a brain AVM or a pulmonary AVM, which can cause a stroke or death.”

Christopher Duma, a brain surgeon specialist at Hoag Memorial Hospital Presbyterian, has treated many vascular malformations through both gamma knife radiosurgery and open brain surgery, and recommends that anyone with a known family history of the disorder who is experiencing any of the related symptoms have the brain and spinal cord imaged.

“Often, people think there is just a funny freckle on their skin and they miss it,” he said. “The best thing to do is to be proactive about it and treat it, with radiosurgery for example, obliterating the problem before it becomes a real problem.”

Initiating partnerships with the National Institutes of Health and the Centers for Disease Control and Prevention, the foundation continues to seek governmental recognition and funding for research and to sustain the eight specialized treatment centers operating in the United States.

With these goals in mind, Drysdale, along with about 40 other foundation members, will take the campaign to Capitol Hill next month, intending to speak with Sens. Barbara Boxer and Dianne Feinstein and several other members of Congress about the disorder and the possibility of prevention.

“So far, we have raised all the money for research and treatment ourselves,” Drysdale said. “I know there are many disorders out there, but from the government’s point of view, you can save money and save lives by investing in this now.”

Anyone interested in finding out more about hereditary hemorrhagic telangiectasia or making a donation to the foundation may contact Debbie Drysdale at (949) 887-9480 or [email protected]t, or go to www.hht.org .