Angioma Alliance

At age 3, Julia lives with at least 13 - and possibly more than 50 - clusters of abnormal blood vessels in her brain. Any one of them could burst at any moment. Proof of that is in the scars that snake down Julia's scalp under a mop of brown curls, the mark of three operations that began when she was just 4 months old.

Whenever Julia vomits, complains of a headache or doesn't sleep well for a few nights in a row, her parents panic.

"You're living with this constant thought that your life could change at any moment," said York County resident Connie Lee, Julia's mother. "It's like she's walking around with little time bombs in her head."

The clusters in Julia's brain are called cavernous angiomas. The little-known abnormalities strike about 1 percent of the population, or some three million people in the United States. Because the walls of the blood vessels are thin and brittle, they're more likely to leak or rupture.

Lee's mission is to educate people about her daughter's condition, which often goes undiagnosed. Last year, the York County woman founded the Angioma Alliance, a nonprofit group that now connects patients all over the world. With a Web site and free patient brochures, it also offers information on the latest research projects.

Doctors say the resources are much needed - and long overdue.

"This is a common but poorly understood disease," said Dr. Issam Awad, a Colorado neurosurgeon who serves as the group's scientific adviser. "It is critical to disseminate information to affected patients and families."

Telling Julia's story is one way that Lee and her husband, John, are trying to get people's attention. At first, their only child's problem seemed minor: The baby was irritable and wasn't sleeping well, and her pediatrician thought she had a mild ear infection.

Then Julia started vomiting up her milk. In January 2000, tests at Children's Hospital of the King's Daughters brought a far different diagnosis. "The radiologist walked in and said, out of the blue, "Your daughter's brain is filled with tumors," Lee said. "That was the single most horrible moment of my life."

The "tumors" actually were abnormal blood vessels. Angiomas, usually found in the brain and spinal cord, can be several inches wide or microscopic and invisible on imaging tests, which is why Lee isn't sure how many Julia has. Some people have no symptoms, while others suffer from disabling seizures, headaches, vision and balance problems and weakness in the arms or legs.

If the vessels burst, the bleeding can be life-threatening. Track star Florence Griffith Joyner died of the illness.

In Julia's case, doctors had to operate immediately to take out the largest cluster, which had grown to be 4 centimeters wide. They sliced through the baby's neck muscles and removed a bone at the base of her skull to make sure her brain had room to swell as it healed. That bone remains missing today, leaving just a layer of muscle covering Julia's brain.

When the baby woke up from surgery, she couldn't move her right leg or hold up her head. She needed months of physical therapy.

Julia has had two more operations since then, the last one in October 2001. One time she woke up screaming in pain from a headache. The other time her parents didn't know anything was wrong until doctors found bleeding in Julia's brain during a routine scan.

There are no medicines to keep Julia healthy. All doctors can do is monitor her, take images of her brain once a year and rely on her parents' watchful eyes.

Julia's future is filled with questions. During times of hormonal change - puberty, pregnancy and menopause - people with cavernous angiomas are at higher risk for bleeding and seizures. Patients with multiple angiomas also may have a 50 percent chance of passing them on to a child.

For now, though, Julia lives like a normal toddler. She is outgoing, even with strangers, and loves music, playing with her dolls and horseback riding. Her parents make her wear a helmet whenever she's on a horse and plan to keep her out of contact sports, but she is under no other restrictions and hasn't suffered physical or mental delays.

Still, Connie Lee, a psychologist, has noticed an impact on Julia's personality.

"When she goes to the doctor, she's really over-compliant," Lee said. "One time, she put one of her toy animals in time-out because he had been bad and another because he was sick. It's like she thinks that if she's good enough, she's not going to get sick. We let her know all the time that none of this is her fault."

Lee has drawn on other families in the Angioma Alliance for support, and she plans to keep doing so as Julia gets older.

"The downside is that I have met the people who have had this the worst," she said. "The other side is that I see how, in spite of this, people have incredible lives. That's what I want for Julia."

Alison Freehling can be reached at 247-4789 or by e-mail at
afreehling@dailypress.com