(mentions CMT) Son's death spurs couple to find cause, perhaps cure

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

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UM researchers Vance and Margaret Pericak-Vance with their daughter

Danica and a photo of their son JJ, who died in 1998 at age 14.

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 ph 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 P. Hussman Institute for Human Genomics at the University

of Miami School of Medicine. He is chairman of the Dr. 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. 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.''

Read more:

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