Son’s death spurs couple to find cause, perhaps cure

UM researchers Jeffrey Vance and Margaret Pericak-Vance with their daughter Danica and a photo of their son JJ, who died in 1998 at age 14. PATRICK FARRELL

At work, Margaret Pericak-Vance and Jeffery Vance are world-famous husband-and-wife researchers who are unlocking the genetic keys to Alzheimer’s disease, Parkinson’s disease, macular degeneration, muscular dystrophy, autism and a dozen other disorders.

At home, they’re the still-grieving mother and father to Jeffery Joseph Vance, who died a dozen years ago at age 14 from a rare series of aggressive and uncontrollable blood clots.

Today, they’re far enough removed from his death, and their field of genetics has progressed far enough, that they can put their talents to a very personal crusade — finding the genetic cause, and maybe someday the cure, of the disease that killed their son.

They also hope the work will help them gauge the genetic risk to their daughter, Danica, now 24.

“When JJ died, it was impossible to work on something so personal and difficult to deal with,” Pericak-Vance says. “Now, it’s not like you ever forget, but it’s been 12 years. We’re finally ready to tackle this head-on.”

The Coral Gables residents are in a unique position to wage that crusade. She is director of the John P. Hussman Institute for Human Genomics at the University of Miami School of Medicine. He is chairman of the Dr. John T. Macdonald Foundation Department of Human Genetics at the medical school.

They’re among the top half-dozen genetics researchers in the United States, says Dr. Pascal Goldschmidt, dean of the UM Medical School who worked with them at Duke University, then hired them to come to Miami.

The couple gathered an international group of researchers at the Eden Roc Hotel in Miami Beach last week to plot strategy for the battle.

“I think we made good progress,” says Dr. Thomas Ortel, director of the Clinical Coagulation and Platelet Immunology Laboratory at Duke University, who attended the meeting. “I’m very hopeful we can identify some of the genetic risk factors that will tell us why certain people have this problem. If we can identify people at high risk, it could lead to new treatments.”

They’re starting near square one. In medicine, blood clots are common. In the brain, they can cause strokes. In the heart, heart attacks. In the legs, deep vein thrombosis.

But the sudden, cascading series of blood clots that killed JJ is rare.

“When it happened to JJ, it didn’t even have a name,” Pericak-Vance says.

In study papers headed for publication in peer-reviewed journals, researchers now have settled on what to call the disorder — “thrombotic storm.”

“Each year hundreds of thousands of patients have clots,” Ortel says. “Only maybe dozens have thrombotic storm.”

JJ’s death is still vivid in his parents’ minds. One night in 1998, after a knee injury from soccer, he complained of a headache. By the next night, he was having seizures. Over three weeks in the hospital, doctors couldn’t stop the spiraling clots. He died of a thrombotic overload.

“He had clots everywhere — lungs, head, legs. We couldn’t get ahead of them,” Vance says.

“We don’t know what triggered them,” Pericak-Vance says. “But when you have something so severe, it’s hard to imagine there’s not a major genetic factor. Or genes and environment together. Maybe there was a mutation in JJ. Also, we want to know if there’s a risk to Danica.”

Two years younger than JJ, Danica — now a first-year medical student at UM — loved to compete with him in basketball, volleyball and such.

“My love of sports has to do with him,” she says.

Because of that, Danica hopes to go into sports medicine.

The search for the genetic precursors to thrombotic storm will take a path similar to that in the couple’s investigations of Alzheimer’s, Parkinson’s and other diseases.

Pericak-Vance’s research team was the first to identify the gene connected to Alzheimer’s and the gene that determines a patient’s susceptibility to age-related macular degeneration. Vance is identifying genes that contribute to Parkinson’s disease and Charcot-Marie-Tooth disease, a neurological disorder similar to muscular dystrophy.

To probe thrombotic storm, they will travel the country interviewing doctors, attending conferences, seeking out people who have the syndrome. Then they will do genetic screening of its victims, seeking genes they hold in common.

If they can identify the culprit gene or genes, they can work on diagnosing and treating the syndrome, someday even preventing it. And they can screen victims’ relatives to see who else is at high risk.

At the same time, they want to raise the awareness of doctors to the syndrome so that, when they see a patient with a blood clot, they can be on the lookout for more, and be ready to treat them early and aggressively with blood thinners and other therapies.

“When JJ was diagnosed, we called all over the country and nobody knew anything,” Pericak-Vance says.

“Now we’re trying to get ahead of it,” Vance says.

“This is a personal war.”

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