Roanoke Times
Copyright (c) 1995, Landmark Communications, Inc.
DATE: SUNDAY, January 23, 1994 TAG: 9401260259
SECTION: HORIZON PAGE: D-1 EDITION: METRO
SOURCE: DIANE TENNANT, TOM HOLDEN and DAVE ADDIS LANDMARK NEWS SERVICE
DATELINE: LENGTH: Long
The dream came to Renee Abshire three months after the birth of her first child.
In her mind, Renee saw her baby walk into the kitchen. ``Momma, see, I can stand,'' her daughter said. ``I can sit and I can crawl. You see, Momma, Jesus healed me.''
Renee awoke, puzzled. Nearby, an apparently healthy Maigon slept soundly.
Renee opened her Bible. ``I will never give you more than you can bear,'' she read.
The dream was to be a warning of sorts, a frightening portent that perhaps Maigon Nicole Abshire was a special child of God, a messenger whose time with her parents would be tragically short.
Renee didn't know then that her baby had been born with a fatal hereditary disease.
It would be three years before Renee came to believe that her daughter was sent to warn the people of southwest Louisiana about Tay-Sachs, the genetic defect that was blinding, crippling and ultimately killing so many babies born to parents of French-Canadian and German heritage.
When Maigon was born on Christmas Eve 1985, Renee cradled the dark-haired little girl. This is my angel, she thought, my gift from God.
For seven months the world was perfect. Maigon began to do all the things a healthy baby does. She could roll over, then crawl.
Then she stopped.
She just isn't strong enough, Renee thought, snuggling her tiny daughter in her arms. Renee talked to the pediatrician.
``There's something going on,'' she told him. ``Something's not right.''
``This is your first child,'' the doctor said. ``You're overprotective.
She's just fat and healthy.''
Renee took Maigon home. Why is she so lazy? the young mother wondered. Why won't she try to crawl? Why won't she lift her head?
Renee's sister offered to baby-sit one day. A mother herself, she took one look at Maigon and knew something wasn't right. She took Maigon to her own pediatrician.
``This child definitely has motor-skill problems,'' he said. ``She looks like she has cerebral palsy.''
Renee and her husband, David, rushed their daughter to a neurologist. He examined her carefully, then turned to the anxious couple.
``She'll never sit,'' he said bluntly.
``She'll never crawl. She'll never eat.''
Get used to it, he said.
He's out of his mind, Renee thought. There's no way this beautiful, healthy child is going to be that way.
But nothing seemed to help. Even with special training, Maigon got steadily worse. Her movements slowed, she became lazier every day.
Renee began to accept that it might be cerebral palsy. At least, she thought, it's not something that's going to kill her.
Then one day the phone rang. It was Maigon's therapist. Come quickly. Maigon's having seizures.
Renee's heart raced as she dashed off to pick up her little girl. What's happening, Maigon? she cried. No one seemed to know.
Maigon seemed content enough for the next few days. Then, on a Sunday, while in her grandmother's arms, Maigon had a massive seizure and passed out. Thirty-seven seizures followed that day.
The Abshires drove to New Orleans, five hours away, for an appointment with Louisiana's top neurologists.
What is your background? a doctor asked them. My dad is part Indian and my mom is French, Renee said, puzzled. My husband is German and French.
The doctor turned to Maigon and clapped her hand. The baby jerked violently and went into a seizure - a classic sign of Tay-Sachs. Still, the doctors never expected a hereditary disease prevalent among East European Jews to pop up in rural Louisiana.
The doctors left. Renee was alone in the hospital room with Maigon. The neurologist came back in. ``You know, Renee,'' the doctor said gently ``Maigon's blind.''
``No she's not,'' Renee said, startled. ``She watches the ceiling fan in her room.''
Well, not all that actively anymore, she thought. She follows it with her eyes, Renee said hesitantly. But looking into the blank stare on her daughter's face, she knew.
The next morning one of the doctors looked into Maigon's eyes as well. There was a cherry red spot in the center. He leaped from his chair and ran from the room.
What's he doing? Renee wondered. The doctor burst back in. ``I know what's wrong with your child,'' he said.
``. . . she has Tay-Sachs disease.''
``Oh. What's Tay-Sachs?''
``It's a genetic disease.''
``Well, what can we give her that she's going to get better?''
The doctor paused.
``You don't understand,'' he said. ``It's fatal.''
Renee's heart nearly stopped. She couldn't talk.
``God,'' she cried to herself, ``I don't understand what's going on. I know you wouldn't give me too much that I couldn't bear, but this is a heavy load.''
She picked up her Bible and opened it at random. Her eyes fell on the words: ``Be still,'' it read, ``and know that I am God.''
She called her mother, her father, her husband. The neurologist counseled them. ``You might as well put her in a home,'' he said. ``There's nothing we can do. This disease will destroy your family.'' Renee wouldn't hear of it. ``This is our baby,'' she said. ``You don't just throw a baby away.''
For almost two years the Abshires watched Maigon wither and slip away, unresponsive, unreachable. Her hair, dark brown at birth, turned an angelic gold. Her brown eyes turned blue.
On Feb. 7, 1989, Maigon stopped breathing. The weather was dreadful. Snow dappled the palm trees and the live oaks. That just never happened in southwest Louisiana. It was cold, and Maigon was dying.
Waiting at the hospital, frightened and grasping for help, Renee opened the Bible again. ``He knows our griefs and our sorrows,'' she read, and a great calm came over her.
Renee stopped crying. She turned to David. ``She's OK now,'' Renee said.
``I felt her spirit leave and . . . I could hear her laughing.''
Devastated by grief, broken by medical bills, Renee and David buried their daughter in a tiny, pink-lined casket and tried to put their lives back together. But Maigon was still with them.
Renee had a sense that her daughter's death was meant as a message. She began researching Tay-Sachs disease. Are there other families, she wondered, who have faced this?
She called everyone she knew and came up with the names of three families with ``lazy babies,'' as they were called in Cajun country. Mysterious connections began to turn up. Two of those families had, like David, attended nearby Iota High School, in a tiny town of 1,200. None of them was Jewish.
Renee began calling doctors. Something, she said, is very strange here.
Intrigued by her findings, the doctors set up a screening test in Iota. They thought a few people would show up. Urged on by Renee, 400 people came.
Geneticists were stunned to discover that 17 carried the Tay-Sachs gene. That made the rate of Tay-Sachs in Iota 25 times higher than the general population, and double that of Jews.
Renee stirred people to action. Marriage license applications were tagged with an information sheet on Tay-Sachs disease and advice on testing. With another mother, Renee founded the Louisiana chapter of the National Tay-Sachs and Allied Diseases Association.
Maigon had finally delivered her message. Before long, that message would travel far beyond Louisiana.
The odd circumstances of Tay-Sachs - a genetic disease long associated with Eastern European Jews - showing up in a Bayou community of mostly Catholics and Protestants began to attract national attention.
Dr. Gary D. Hodgen, a Norfolk medical researcher, had just delivered a speech on human intertility to West Coast colleagues in Palm Springs, Calif.
Hodgen, president of the Jones Institute for Reproductive Medicine, flicked on the CBS Evening News in his hotel room. He heard a report on ``lazy-baby disease'' in Louisiana's Bayou country. Tulane University scientists had discovered that it was actually Tay-Sachs.
Hodgen, one of the nation's leading experts on human reproduction, was intrigued. His team of researchers at the Eastern Virginia Medical School in Norfolk was investigating Tay-Sachs.
They had this theory for dealing with a disease handed down through the parents' genes: The woman's egg and the man's sperm could be combined in a laboratory. The resulting pre-embryos could be screened for the genes that cause the illness. The ones that proved ``clean'' could then be transferred to the woman's uterus. If the embryo implanted, she could deliver a baby that did not have the disease.
It would be on the razor's edge of a fast-moving biotechnology race involving the nation's leading universities. The ultimate goal was to push science to the point that doctors one day would be able to alter the genes themselves.
The story from Louisiana was the lead Hodgen needed. Tests and trials with animals had run their course. After years of making strides in the lab, Hodgen's team at the Jones Institute was looking for a chance to test their theories in the real world.
To this point Hodgen had survived countless dead ends, money woes, abortion rights debates, you name it. But a little luck always seemed to pop up at just the right time - like turning on a television in a hotel room a thousand miles from home and hearing just what he needed to hear.
In 1979 Hodgen was an ambitious researcher at the National Institutes of Health in Bethesda, Md. He had a reputation as a gifted scientist, and he was pushing for a project on genetic diagnosis of the pre-embryo, even though the technology to pull it off did not yet exist.
But the direction in which the science was heading was clear: Increasing knowledge of the human reproductive cycle would lead in 1981 to the birth in Norfolk of Elizabeth Carr, the first baby in America conceived through in-vitro fertilization.
She was dubbed a ``test-tube baby'' - an inaccurate and grating moniker to scientists that blurred what was an astounding accomplishment for the time. But that first birth established the Jones Institute as a leading reproductive research center.
At other research labs, scientists were unraveling even more profound secrets about how to isolate genetic material too small to see. They were learning how to make it multiply, how to pick out the genes that cause any number of diseases. The potential for screening out hereditary maladies was growing.
Hodgen wanted a part of that action.
But there was no money, and politics was a constant worry at a government research lab. Congress repeatedly denied funding for pre-embryo genetic screening.
Frustrated, Hodgen moved to Norfolk in the summer of 1984. He courted pharmaceutical companies and raised $1.3 million to begin the research.
Working with the Jones in-vitro team, Hodgen and others began to build on the success of the Elizabeth Carr birth.
By summer 1988, Hodgen's project was running in earnest. He brought in Dr. Stephen Beebe, a molecular biologist. Beebe would be among the first to putin place the technical know-how that the Jones Institute would need to realize Hodgen's goal of genetic screening.
Studying a single human cell could be compared to having an elephant pick up a single grain of sand with its trunk, inspect it, taste it, smell it and replace it on the beach precisely where he'd found it, without disturbing any other grain of sand.
Working with a pre-embryo, no larger than eight cells, could one cell be removed without damage? How big of a needle was needed? Would a pre-embryo continue to grow normally if a cell was removed?
Hodgen's team honed their skills in a process called micromanipulation. Using exceedingly small glass needles, called pipettes, while watching through a microscope, a researcher can puncture the pre-embryo cluster and extract a single cell. When work first began, no one knew how big a pipette to use, Hodgen said. More than one pipette damaged the pre-embryo.
Beyond lab technique, a great deal was still unknown about how to actually carry out genetic screening.
Beebe set to work learning how to extract genetic material and goad the DNA into multiplying in the amounts needed for testing.
Working with him was Dr. Manal Morsy She helped figure out how to tell when the DNA in their tiny vials was healthy or defective.
Getting the DNA to replicate involved a chemical process called the polymerase chain reaction. It was a powerful technology that made it possible for researchers to obtain large amounts of genetic material in a matter of hours.
But it was not enough simply to have the DNA. Mistakes were easy to make. The procedures were so delicate that a flake of human skin, too small to be seen, could distort results, resulting in ``dirty DNA.'' Even an incorrect temperature could throw everything off.
In 1990, Hodgen recruited Dr. William E. Gibbons from Baylor College of Medicine in Houston, where he was an associate professor of obstetrics and gynecology and director of reproductive endocrinology.
Gibbons was picked to lead the clinical research team that would take the laboratory work and apply it to a patient.
It was Gibbons who would eventually persuade the Abshires to come to Norfolk and join in the assault on Tay-Sachs disease.
That same year, Hodgen met Dr. Robert A. Kaufmann, a young endocrinologist. Impressed with Hodgen's speech, Kaufmann snared a research grant that let him join the Norfolk team for two years.
Kaufmann helped set up techniques at the Jones Institute to detect when enough DNA was present after the chain-reaction process had begun.
Other scientists signed on: Dr. Kaz Takeuchi, from Japan, and Dr. Susan E. Lanzendorf, from Northwestern University and the Oregon Primate Center, who specialized in the micromanipulation techniques needed to handle human embryos; Sue Gitlin, who worked at refining the DNA amplification, ensuring that test results could be accurately read.
The team was in place. What they needed was a patient.
When Hodgen saw the TV news report about Tay-Sachs mysteriously riddling a small Louisiana farm town, he called Kaufmann.
Fly to Louisiana, he told Kaufmann. See what this is all about.
Kaufmann flew to Louisiana and met Renee Abshire at a support group for Tay-Sachs parents. There were four couples present, all of whom had a Tay-Sachs child.
Kaufmann talked about the work going on at the Jones clinic. Renee later explained it to her husband. They had doubts.
Nothing was resolved, and Kaufmann went home to Norfolk.
The Abshires immersed themselves in life's everyday concerns. Both went back to school. Renee, who'd devoted all her time to caring for Maigon, began to learn respiratory therapy. David, an aircraft mechanic, studied to become a paramedic.
They had vowed not to have another child until someone could promise that the baby, and its parents, would not have to relive the terror and the grief of Tay-Sachs.
But school books, career plans and support groups could not take the place of their child. Once they'd been a family. They wanted that again.
For two years or so the Jones Institute team stayed in touch, as their science skills neared the point where they were ready for a human patient. Renee and David struggled with their fears and their beliefs.
The couple was invited to Norfolk to tour the Jones Institute and meet the staff. They asked God to guide them. They agreed to take the chance.
By the summer of 1993, everybody was ready.
Renee began the hormone therapy that was standard for all in-vitro patients. Physicians wanted her body to produce more eggs than normal so they could have several to work with.
Over three weeks the doctors retrieved 13 eggs. Seven were successfully fertilized. The doctors were able to examine the genetic makeup of four. Only one of the fertilized eggs carried the trait for Tay-Sachs, leaving three disease-free. Those three were transferred into Renee's uterus.
Renee went home to Louisiana to wait. In just a few days, she she found out she was pregnant.
Renee's second chance had come. The baby she carried was free of Tay-Sachs. She named her Brittany.
Throughout her pregnancy, Renee told few others how the miracle she carried inside had come to be.
But she felt a great peace. In February, she and David will fly to Norfolk for Brittany's delivery by Caesarean section.
Last week, eight months into the pregnancy, Renee sat in her parents' home in Lake Charles, La., and gently rubbed her abdomen.
Brittany, she said proudly, weighs about 6 pounds. ``I feel her personality,'' Renee said. ``She's very active and I feel that she's going to be a squirt. She's completely healthy. I know she's not even a carrier.
``She's completely free of it. The thought that we have beaten it just completely thrills me.''
Keywords:
FATALITY
by CNB