CHICAGO — Twenty years ago, Nancy Margraff started doing research on the Internet to find out what killed her father.
He had collapsed while mowing the lawn when she was 6, dying unexpectedly a short time later. She grew up never totally clear what caused his death.
Her web search may have saved the lives of generations of her family.
Margraff's advocacy has led to the creation of a center in Chicago dedicated to treating the rare blood disease that took her father's life, and that was passed on to her, her daughter and two of her grandkids. The genetic disorder is called hereditary hemorrhagic telangiectasia, or HHT.
"The majority of doctors have never heard of it and, if they do, don't know how to treat it," said Margraff's daughter, Kristy Kelly, 45, of the far southeast side of Chicago.
Earlier this month, University of Chicago Medicine was named an HHT Center of Excellence by Cure HHT, the worldwide advocacy group for the disease. The hospital is the only certified treatment center for the disorder in Illinois or Indiana.
HHT, which affects 1 in 5,000 people, causes blood vessels to form abnormally, in many cases leading to skin lesions and nosebleeds. Patients often have nasal complications and anemia. Many of them also have arteriovenous malformations, or AVMs, in their organs, which can be deadly if left untreated. Treatment generally consists of an embolization, a procedure that closes off the blood vessels.
After learning about HHT online, Margraff and Kelly had to travel to the Yale University medical center in New Haven, Conn., one of only two HHT treatment centers at the time. Margraff had had chronic nosebleeds, Kelly migraines and red lesions on her skin. A doctor found that both women had HHT in their lungs. They had to return to Connecticut for treatment over the years.
When it was time for Kelly to get her kids tested for the disease, their pediatrician referred them to the University of Chicago. It turns out doctors there were familiar with HHT. Two of Kelly's three kids were found to have the disease. and now receive their treatment through the Chicago hospital.
Margraff encouraged University of Chicago Medicine to become certified as an HHT treatment center. The hospital applied, earning the accreditation this month. It now has a team of specialists dedicated to treating the disorder.
"I'm really grateful for it. Now they can help other people, too," said Connor Kelly, 13, who has HHT in his lungs (his sister, Megan, 11, has it in her brain). "With University of Chicago being close, people won't have to go to Yale like my mom and grandmother."
Dr. Issam Awad, a University of Chicago Medicine neurosurgeon who is the medical director of the HHT center, said that because many doctors are unaware of the disorder, patients end up getting fragmented treatment.
"So they may receive care for the nosebleed by a doctor in one office and anemia by a doctor in another office and that doctor may not know about the nosebleeds and it may affect the brain also," he said.
Kelly wants to spread awareness of the disease because the vast majority of people who have it — an estimated 90 percent — remain undiagnosed. And when HHT is untreated, it can be deadly.
"It's treatable in the majority of cases," she said. "As long as you continue with your checkups and stay on top of it, you can lead a normal, healthy life."
Like her and her family are doing now.