Not Crazy: Families Facing Rare Disease Unite

Julia was 6 months old when she was diagnosed with Glanzmann's thrombasthenia. The family was again lucky, because down the hall from the grandmother's work was one of the few physicians in the country that had treated the disease at least once before.

Fighting for Treatment, and a Diagnosis

Smith has heard of one other person in the state of Georgia -- an adult -- with Julia's disorder.

The bad news was the limitations on Julia's life. Doctors told Smith that her daughter could never have children, could not play contact sports and couldn't do slightly risky activities such as skiing.

"In my head, I was thinking, 'Oh this is something I could deal with,'" said Smith.

But then Smith started dealing with some injuries -- a black eye from a fall swelled so much that the doctor warned Smith to watch it, lest Julia's retina's detached.

Smith also got accusatory looks and comments from strangers who assumed the bruises all over Julia's body were the result of child abuse. Eventually the family began carrying letters from their doctor and attorney in case the police were called to take away Julia.

But Smith said the most stressful events are the life threatening nosebleeds.

One morning when Julia was 7 months old, Smith went to pick her up.

"Her nose started bleeding in the night, and I went to get her in the morning. It looked like someone was butchered in there. Her hair was matted with blood. Her clothes were covered, her mouth was filled with blood. Her eyelids were sealed with dried blood," said Smith.

Julia has survived, and Smith says the time she spent networking and building an informational center at www.curegt.com has paid off.

Money sent to a researcher, Dr. David Wilcox at the Medical College of Wisconsin, assisted his grant from the National Institutes of Health.

"He has actually corrected GT in the lab through gene manipulation," said Smith. "He has applied it to hemophilia, and it corrects hemophilia."

Next week, Smith's family will start participating in a clinical trial for a treatment for Julia's condition.

"Our whole family is getting our blood drawn and shipping it off on Monday," said Smith.

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