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by Judy LaBorde, New Orleans, Louisiana

from Linkage Newsletter, Volume I, spring, 1995.

Cajun Connection

A Cajun cottage designed to replicate the farmhouses built by the Acadians who came to Louisiana in the 1700's was the catalyst for genetic research into Friedreich's Ataxia at LSU Medical Center. The cottage sits among modern brick homes in the small town of Henderson, Louisiana, population 2,000, located 12 miles east of Lafayette, in the heart of Cajun country.

Ataxia is a family of diseases that destroys the brain cells governing muscle control. There are both dominant and recessive forms. Friedreich's Ataxia is a recessive form, meaning an affected individual has two copies of the defective gene, one inherited from each parent. Dominant forms mean only one copy of the defective gene is needed for an individual to be affected.

The story begins in 1982 when Dr. Mary Kay Pelias, a native of Louisiana and professor in the Department of Biometry and Genetics, and Dr. Robert Elston, a native of England and head of the Department, took a trip through Cajun country as part of field work on another genetic research project. Pelias had stopped her car near the distinctive cottage and was pointing out architectural features when the owner, Evelyne Goller, came out and a conversation ensued. Pelias talked about her fascination with Cajun culture and Goller explained her work as a specialist in Acadian language and culture at LSU in Baton Rouge. The two geneticists then explained their work in linkage analysis, a method scientists use to find the location of a disease gene on a chromosome. Each of us inherits 46 chromosomes (23 from each parent), which contain about 100,000 genes. Linkage analysis cannot be done without the participation of affected individuals and as many members of their extended family as possible. It is the first step in identifying the characteristics of the disease gene and ultimately effective treatments such as gene therapy.

As a courtesy and without a second thought, they left business cards at the end of the visit.

Betty's Story

That chance visit became prophetic when Goller received an unexpected letter from her cousin, Betty LeBlanc, who had lived all of her adult life in Orange, Texas, located about 100 miles west of the Louisiana state line. The cousins grew up together in the tiny town of Morse, Louisiana, which "had a population of 500 when (she) left 32 years ago and still has a population of 500," according to LeBlanc.

The town of Morse is 30 minutes from Lafayette and typical of the many settlements established in the 1700s by French Canadians ousted by the British from their farming villages in Canada. The odyssey of the wandering Acadians is immortalized in the poem Evangeline written by Henry Wadsworth Longfellow. Bonded by language, religion, culture and devotion to family, the displaced Cajuns (Americanized pronunciation of Acadians) have maintained an identify and a cohesion that is unique in the history of America's melting pot.

Three Of Six

LeBlanc's oldest child had been diagnosed by a neurologist in Houston as having Friedreich's Ataxia. "He said the disease was so rare that we would never find anyone else who had the disease." Not long afterwards, all six LeBlanc children were examined during a free clinic in New Orleans sponsored by the National Ataxia Foundation. Dr. Michael Wilensky, neurologist and medical director, found that three of the six children had the disease. There is no known cure for Friedreich's and the greatest hope to find one lies in genetic research. The first symptoms are a stumbling walk, hand incoordination and slurred speech that usually first appear at puberty. As devoted parents, LeBlanc and her husband were more than frustrated in not being able to do more to help their children. "We would have gone to see anybody to help our children. We couldn't find anyone who was interested in us. Doctors would say come back and see us in six months and charge $125," she explained.

Two Brothers

Goller had heard about her cousin's children but did not connect their condition to genetics until the visit by the LSUMC scientists. When Dr. Bronya Keats, a medical geneticist originally from Australia, joined the LSUMC faculty a few months later, Betty LeBlanc's story had a major impact on the direction of her research.

Meanwhile, LeBlanc started her own research that would prove to be invaluable. Using a combination of persistence and word of mouth, she found five affected families in the town of Morse. "Five families in a town of 500 people! If the disease is so rare, why is it not rare in a town of 500? I knew something important was going on," she said. She also did extensive research into the genealogy of her family and that of her husband's, also from Morse. Through information obtained by her mother, she quickly traced their lineage back to the 1900 census tract. Ultimately, her research led to two brothers who were probably two of the carriers of the gene when they arrived in Louisiana with the other Frenchmen exiled from Canada. Friedreich's Ataxia shows up in all races and ethnic backgrounds. One in 50,000 Americans has it, with one in 112 people cited as "carriers." The frequency is higher In the Acadian population of southwest Louisiana. One in 20,000 people is estimated as having the disease, with one in 70 people cited as "carriers."

"Towns like Morse started with a handful of people and they branch out and remarry," she explained. When LeBlanc presented her extensive family history to Dr. Pelias and Dr. Keats, what geneticists call a "kindred," Dr. Pelias exclaimed, "We've found a gold mine!"

Greatest Thing

"We were so thankful when we finally got to work with Dr. Pelias and Dr. Keats because they were interested in us and just knowing that someone is interested makes a big difference," LeBlanc said. "The greatest thing is that they gave us hope, a chance for our children and their children. Before there was nothing. No matter who we saw, they were not interested."

After several months studying the LeBlanc kindred, Dr. Keats told her, we have enough genealogical information; now we need to do the blood work." With a small grant from the National Ataxia Foundation, the field work began.

Blood is the most widely studied human tissue in genetic research because samples are relatively easy to obtain and white blood cells are a plentiful source of DNA, which is our genetic makeup. Convincing families in her hometown to participate in the research was another matter, according to LeBlanc. "Any disease can be destructive," she said. "If you are not really strong in your relationships, Friedreich's or any disease can destroy your family."

LeBlanc sometimes felt discouraged and credits Dr. Keats with keeping her motivated. "She worked way beyond the doctor part. She works from a deep commitment and a good heart," LeBlanc said.

Time of Blame

She cites one proud family of high achievers who did not want to be singled out. When one branch of the family had the disease, others took the position that "this can't happen to me - that's my brother's family problem."

"It's funny how the mind works," LeBlanc says, "fear of something is so powerful." She tells of one elderly man who refused up to the time of his death to give a blood sample. Later it was found out that he believed Friedreich's Ataxia was caused by syphilis because his grandfather had had syphilis. For many years the myth existed that syphilis caused ataxia because the symptoms are similar to those of second and third stage syphilis. "We need to change, show the truth," LeBlanc says. "This is not caused by syphilis. We just happen to carry two defective genes and that is where we have to put our energies and maybe in time doctors can change that gene."

She tells the story of another affected family where the parents divorced, with family members blaming each other. The husband had a sister and brother with the disease so it was already known that Friedreich's was part of his family. On the wife's side, there was no one with the disease. Of the four sons who were born, three had Friedreich's Ataxia. "The wife couldn't handle it and automatically blamed her husband," LeBlanc said. "In order to cope, she had to say 'it's not my fault'. She never imagined she was a carrier." When LeBlanc was able to show the husband how he and his wife were related six generations back , he said "Wow! You can't imagine how the weight lifted from my shoulders. All these years I have been carrying the blame for this and now I see that my wife is also a carrier."

LeBlanc has witnessed how individuals change when they understand how they are linked to families going back hundreds of years, that they are not the only ones who are carriers of the gene. As a result, she is even more committed to public education about the disease.

"We live in a time of blame. We think it's easier to blame than face the problem. I never once felt blame. I don't want to place my energies on blame. We've got to get rid of the old ways that keep people apart. The more we educate, show, the more we understand."

With a recessive disorder like Friedreich's Ataxia, each child of two parents carrying the gene has a 25 per cent chance of developing the disease. There is a 50 per cent chance of being a carrier without showing symptoms and a 25 per cent chance of being completely free. LeBlanc believes that unless carrier parents openly talk about the disease and reach out, there will never be help for affected children.

Good and Compassionate

As a result of this pioneering work in genetics, the defective gene was shown to be located on chromosome 9. This finding means that it is possible to determine with high probability if unaffected close relatives of an individual with Friedreich's Ataxia are carriers of the defective gene. Research is continuing towards identifying the gene and the protein formed from it.

"We need more research if we ever hope to find a cure," LeBlanc says. "We're all in this. This will not end with my children. You're going to see Friedreich's in future generations." The whole experience has deepened her relationship to her native home. "People in Louisiana are good and compassionate. You have to go away and come back to see what we have in these beautiful Cajun families. I hope people can see in me the beauty of the people I grew up with."

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