Tracing Heritage Through Disease

Tracing Heritage Through Disease  By Kristen Philipkoski

Story location: http://www.wired.com/news/technology/0,1282,53256,00.html

02:00 AM Jun. 18, 2002 PT

Nancy Sparks Morrison

Tracing Heritage Through Disease  By Kristen Philipkoski

Story location: http://www.wired.com/news/technology/0,1282,53256,00.html

02:00 AM Jun. 18, 2002 PT

Nancy Sparks Morrison was diagnosed in 1998 with Familial Mediterranean Fever, a rare disorder known to occur mainly in people of Mediterranean descent.

The strange part is that Morrison grew up as a white girl in the southern part of Appalachia, where her family has resided for over 200 years.

Her need for an accurate diagnosis of ailments she suffered most of her life, combined with a passion for genealogy, made her realize that her family history was more mysterious than she suspected.

"Who would have ever thought that a little girl from Appalachia would have this exotic illness?" Morrison said.

Certainly not any of the dozens of doctors who diagnosed her with 17-odd diseases and prescribed 21 medications before she found a way to treat her aching joints, stabbing side pains and severe fatigue, among other symptoms.

Even after Morrison matched her symptoms to those of FMF, doctors laughed when she suggested she might have the disease. Although one doctor in particular didn't believe she had the illness, he was finally convinced to prescribe a trial of  colchicine  a fairly benign but effective drug. She felt an improvement in just hours, she said.

Morrison's great-great-grandfather was the key to solving the mystery. She could trace much of her family back to the 17th century, but couldn't find any of his ancestors.

After getting on the Internet in 1997 and posting questions on genealogy message boards, Morrison received an e-mail from a woman in California who asked if she had ever considered her great-great-great-grandfather might be Melungeon.

"My question was, who or what the heck are Melungeons?" she said.

Melungeons, she discovered through more Internet research, may be a group first noticed in the Appalachian Mountains in 1654 by English explorers, who described them as "dark-skinned with fine European features."

Many historians dismiss this theory and believe they are a "tri-racial isolate" who were once Irish- and English-indentured servants, local Native American tribes such as the Cherokee, and escaped slaves.

Exiled into a common community by whites, these three ethnicities became one, they believe.

But many Melungeons, like Morrison, believe firmly that there must be some Mediterranean heritage in there, otherwise how could she -- and many other Melungeons -- have FMF?

No one has researched whether Melungeons have unusually high instances of FMF and other diseases. But one local physician, Dr. Chris Morris, who diagnosed and treated Brent Kennedy, author of The Melungeons: The Resurrection of a Proud People: An Untold Story of Ethnic Cleansing in America, said he's never seen a case in someone who was not Melungeon.

According to medical literature, some small groups in southeastern Philadelphia, Spain and Japan are the only other incidences outside the Middle East where FMF has been detected.

The true origin of the Melungeons is hotly debated, especially on Internet message boards.

When Kevin Jones, a molecular biologist at the University of Virginia College at Wise, sought to research FMF and other rare diseases found in people of the southern Appalachian region, he didn't realize he was diving into the middle of many closely-held personal agendas.

"They are the most argumentative people I've ever come across," Jones said.

Jones is about to announce DNA research results on FMF and the other rare diseases found in people of the southern Appalachian region. He hopes his research will increase awareness and encourage doctor education of these diseases, so no one will ever again have to wait 30 years for a diagnosis.

Diseases of the Melungeons include Behcet's Syndrome, Machado-Joseph Disease, Familial Mediterranean Fever, Sarcoidosis and thalassemia.

All of the diseases are associated with ethnicities not commonly found in Appalachia: Mediterranean, Jewish, Arab, Turkish and African.

Therein lies the mystery of the Melungeons. They are not African-American but also not fair-skinned like most Scottish-Irish Appalachians. They have been called or have declared themselves to be Native American, Middle Eastern, African American, Portuguese and Turkish, among other ethnicities.

Because Jones' research could eventually settle the dispute surrounding Melungeon ancestry, he has been heralded as well as threatened by the subjects of his study.

Some cling to the possibility of Mediterranean ethnicity to dismiss ideas they might be African American, because they lost rights and faced discrimination throughout history based on that assumption. Others have their own pet theories.

"Everybody wants blood, scandal and glory. I have some not-bad science but it's not quite what some people want to hear, be it for better or worse," Jones said.

Like Morrison, Kennedy struggled for years to get an accurate diagnosis of his disease, which also turned out to be FMF.

"Since I was a child I've suffered fevers, joint pains, abdominal discomfort, rashes on the legs and shoulders that couldn't be explained," Kennedy said. "I never got any definitive diagnosis and just accepted it as a partof my life."

As he got older, his symptoms worsened and became nearly unbearable near his 50th birthday.

"My joints were now 'freezing' and the pain in my neck, shoulder, feet, hip and elbows was excruciating," Kennedy said.

He was finally referred to Morris, who diagnosed him with FMF and put him on colchicine.

"Within three hours I felt better than I'd ever felt in my life," Kennedy said. "It was remarkable."

Just a few months later he played three sets of tennis -- the first time he's played more than one set in 20 years.

"That's when I realized I had really struck on something," Morris said.

Morris has become a champion of victims of the disease, after closely following Kennedy's case for the past five years. He is not Melungeon, but is on board with the theory of their origin outlined in Kennedy's book.

Kennedy suggests that Portuguese sailors brought Turkish slaves to America -- they joined with female Cherokee Indians and other tribes in the area to produce the first Melungeons in the 1500s.

His diagnosis of FMF seemed to lend even more credence to the circumstantial evidence presented in Kennedy's book. But there is one glitch. A DNA test found that Kennedy does not carry one of three gene markers found in 70 percent of FMF patients.

Nancy Sparks Morrison doesn't carry the gene, either. But while it would have been a tidy bit of proof had they carried the gene, the fact that they don't carry it doesn't mean Melungeons are not of Middle Eastern extraction.

First, 30 percent of patients don't carry one of the three FMF genes. Second, if Melungeons did originate when Kennedy theorizes, gene mutations surely would have been introduced over a period of 500 years, Morris said.

A researcher at the National Institute of Arthritis and Musculoskeletal and Skin Diseases, Dan Kastner, has seen Kennedy and corroborated this possibility, Morris said. Kastner, who discovered one of the FMF genes, declined to comment.

Morris toys with the notion that Melungeons have developed their very own disease. He's even given it a name: Periodic Melungeon Fever.

(the above statement from Morris was given in a joking manner!)