THE VIRGINIAN-PILOT
Copyright (c) 1995, Landmark Communications, Inc.
DATE: Sunday, January 29, 1995 TAG: 9501290060
SECTION: FRONT PAGE: A1 EDITION: FINAL
SOURCE: BY JAMES SCHULTZ, STAFF WRITER
LENGTH: Long : 131 lines
On her first birthday, Brittany Abshire squirmed in her seat in a Louisiana restaurant. She grabbed at table-top crackers, played with spoons, imperiously demanded french fries.
Brittany's sister Maigon had never come this way or this far, thought her mom, Renee Abshire. Maigon was gone now, dead at 3, dead five years ago,a victim of the inherited genetic malady known as Tay-Sachs disease.
And here was Brittany, ``spoiled rotten,'' joked Renee but a miracle baby nonetheless. Brittany: the world's first child to be born guaranteed free of Tay-Sachs.
Her birth, a year ago this past Thursday, was a triumph for Norfolk's Eastern Virginia Medical School and the Jones Institute for Reproductive Medicine, pioneers in a process known as pre-embryonic genetic screening.
Healthy Brittany came into the world courtesy of a painstaking series of procedures developed at the Jones Institute over a 15-year period.
Renee took medication that increased her natural ovulation. The EVMS medical team removed the eggs from Renee's ovaries and inseminated them in a petri dish with husband David's sperm. Once the eggs were fertilized, they were examined for the presence of genetic abnormalities that cause Tay-Sachs.
Three disease-free eggs were implanted in Renee's uterus. One would develop to become Brittany.
``She represents for us and the world a foray into scientific discovery that is of enormous importance to humanity,'' said Gary D. Hodgen, Jones Institute president and leader of the EVMS team. ``The big value in Brittany's birth is that it's a beginning for the prevention of suffering and catastrophic health-care costs related to or stemming from inherited genetic disease.''
Hodgen and those in his field believe that genetic screening offers hope to thousands of would-be parents who otherwise might not conceive for fear of passing to their offspring a host of inherited diseases such as Tay-Sachs, sickle cell anemia and cystic fibrosis.
But it's a long journey, one that may not end as happily as the Abshires'.
In the year since Brittany's birth, only two other couples have come to the Jones Institute to attempt the procedure - subsidized by the institute at no charge to families - that the Abshires went through. One couple was screened for Tay-Sachs, the second for sickle cell anemia.
Though implanted with disease-free eggs, neither woman conceived.
Three more couples have come to Norfolk to begin counseling, the first step on the road to genetic screening and egg implantation.
Worldwide, Hodgen said, there are no more than two dozen children who were born under circumstances similar to Brittany's.
Today, though, thoughts of human genetic advance or medical science are not likely to be on Brittany's mind. Preoccupying her will be cake, ice cream, balloons and presents. On this Super Bowl Sunday, the Abshires are hosting a Brittany birthday bash for 30 relatives and friends who will gather in the Abshires' De Ridder home in southwest Louisiana, near the Texas border.
David and Renee judged the weekend the best time for a party. But Thursday wasn't forgotten. There was a small cake at home in De Ridder, and two dozen pink roses and a teddy bear with curly fur and a pink bow sent from the Norfolk hospital staff.
``It was precious,'' said Renee. ``I started crying. I do a lot of crying these days.''
Renee's tears are often those of gratitude, but sometimes those of fatigue and frustration. Despite her otherwise robust health, Brittany is plagued by a dislocated hip, a chronic problem unrelated to Tay-Sachs. She has spent most of her first year in a cast or a brace.
In the last several weeks, Brittany has been shuttled to several pediatric orthopedists for advice on how to correct the deformation. On Thursday, mom and daughter drove southeast, to Eunice, for a consultation with the doctor who may in the spring have to operate on Brittany, reshaping her pelvis to position the hip properly.
``I do not want to see my baby operated on,'' Renee said. ``We went through enough with Maigon. I'll be honest with you - we're praying this hip will go in on its own.''
For now, braces and casts are off, although mom and dad often end up carrying Brittany on their own hips around the house. Brittany is not supposed to walk, and crawls nearly everywhere she goes. Though, said Renee, ``She pulls up on furniture. She wants to walk.''
It has been surprisingly hard, says Renee, to adjust to parenthood, knowing your child isn't sick, isn't going to die. Thoughts of Maigon are often in her mind, even as she thanks God for the gift of Brittany.
``In those moments when children are sleeping so peacefully, they look like little angels,'' she said. ``I keep feeling that someone will come and take her. All we've known is a sick baby.''
The birth of healthy babies is the promise of genetic screening. In the future, is using gene therapy to make sick babies well - - inserting healthy genes into cells to correct chronic conditions or disease.
Both are being helped along by the Human Genome Project, under the direction of the National Institutes of Health. Organizers hope to map all of the estimated 100,000 genes found in human beings by the early 21st century.
Like a road atlas used to navigate rural byways and back roads, the genome project map should enable scientists to find their way around the serpentine maze of genetic disease.
``There's been a huge increase in the ability to detect deleterious genes, in the course of the human genome mapping project,'' said Martha Volner, assistant director of the Alliance of Genetic Support Groups in Chevy Chase, Md. ``That doesn't necessarily translate into prenatal victories or cures.''
Most researchers say progress is steady, if slow. It's laborious to develop the probes that will identify defective genes.
Even more so is applying lessons learned to real people, to mothers and fathers who hope they can give birth to normal children who can live normal lives.
``We have a learning curve to evolve through,'' said Hodgen of the Jones Institute. ``This work will gain speed as evidence and knowledge synergize.''
For her parents, Brittany is proof that genetic screening science is indeed advancing. That is why their daughter remains in the limelight.
``Brittany tries to make eye contact with everybody,'' Renee said. ``Ever since she was born the cameras have been on her. She automatically thinks the whole world is looking at her.''
When Brittany was born, the whole world was watching. There were newspaper articles, magazine stories, mentions on television shows.
As others are born like Brittany, there is likely to be more media interest, more stories in magazines and newspapers. There will be national Tay-Sachs and genetic disease conferences that the Abshires will be invited to attend. Just last week, an Italian television crew was in De Ridder to interview the family.
Like it or not, life is different now.
``When Maigon passed away, it was so devastating,'' Renee said. ``You lose a child, you don't do as you once did and make long-term plans.
``I look at Brittany and don't think I want her to be a doctor. I really hope she becomes a strong advocate for families that have gone through tragedies like we have. I want Brittany to be a compassionate human being, to make a difference in this world.'' ILLUSTRATION: Brittany Abshire is the first child to be born guaranteed free
of the Tay-Sachs disease.
KEYWORDS: EVMS TAY-SACHS IN-VITRO FERTILIZATION GENETIC SCREENING by CNB