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PERSONAL STORY

Suwanee Mother of Two Finds Relief from Rare Disease in Local Study

Raising twin girls can be a challenging experience for any parent, but Joyce Wilmot of Suwanee lives with the threat of a rare condition that - at any moment - can leave her unable to care for her children for as long as a week.

Joyce has hereditary angioedema, or HAE, a rare genetic blood disorder that can lead to attacks of extreme, sometimes life-threatening swelling of the face, throat, or abdomen. For Joyce, HAE manifests itself in extreme pain of the abdomen which can leave her disabled for long periods of time.

"It's scary. It's so painful I can barely function," Joyce said. "In the past, when I had an attack, I'd have to send my children to my parents' house for the week."

HAE is caused by a deficiency of the plasma protein, C1 inhibitor. It affects an estimated 10,000 people in the U.S, but since the condition is hereditary, it is often passed from parent to child. Joyce's father and sister both have HAE. While tests so far have been inconclusive, there is still the chance that her twin girls have inherited the disease.

Because it is so rare, HAE can often be misdiagnosed by physicians who are not familiar with the condition. Joyce, who is now 36, began experiencing attacks at the age of 19, but because the symptoms were so similar to allergies or food poisoning, doctors would attribute her attacks to these more common illnesses. It wasn't until her sister, a medical student at the time, did her own independent research that Joyce learned the real cause of her ailment.

There is no treatment approved by the Food and Drug Administration (FDA) for acute attacks of HAE in the U.S., but an investigational drug called C1-INH, which has been used successfully by patients in Europe for many years, is currently being studied at 45 sites in North America and Europe, including one right here in Atlanta, as part of the International Multi-center Prospective Angioedema C1-Inhibitor Trials (I.M.P.A.C.T.) Robyn Levy, M.D., lead investigator for the trial at the Family Allergy and Asthma Center in Atlanta, believes this study will help bring attention to the disease.

"We are extremely excited to be involved in a clinical study that will help improve the world's understanding of this rare, debilitating condition," said Dr. Levy. "It is gratifying to imagine that our work might soon lead to rapid and lasting relief for those patients with acute, severe HAE attacks."

Document Published: 3/12/2007 1:33 PM
Last Updated: 3/22/2007 4:00 PM