Posted on 05/21/2006 6:47:07 PM PDT by Coleus
Even before her first birthday, Jashaia Trinity Small startled more easily than other children exposed to loud noises. Once an ambitious walker, she began to fall more often and needed support to stand up. She blinked repeatedly, "and when you called her, she had to look around the room to see where you were," her mother, Nadine Green-Small recalls."By the time she was a year and a half, I knew something was really not right," Green-Small said.
Last fall, Jashaia Small was diagnosed with Tay-Sachs disease, a genetic disorder most often diagnosed in eastern European Jews and only rarely in African Americans like Jashaia. The prognosis is the same for children in all ethnic groups who develop the disorder early in life: a progressive deterioration of neurological functions, including the loss of vision and mobility, and then death, usually by age 5.
In November, her parents took Jashaia to Duke University in desperate search for a treatment. After two months of evaluation, doctors gave her a transplant of umbilical cord blood, a promising source of potentially life-saving stem cells. The hope is that the stem cells will at least halt the damage caused by the buildup of fatty material in her brain.
As Jashaia's family struggles to maintain hope, they also now accept that there is a limit to medical science's ability to deliver miracles. "They hope that they caught it early enough to make some difference, but they really don't know," Green-Small said. Now 21/2, Jashaia Small fell victim to a cruel genetic twist. In order to develop Tay-Sachs, both parents must carry a copy of a recessive gene that renders the brain incapable of breaking down a fatty material called ganglioside GM2. Even then, there is only a 1-in-4 chance their baby will develop Tay-Sachs.
There was no reason to suspect that young Jashaia was at risk. Green-Small and her husband, Dyvon Small, have two other children together, Zahkya, 8, and Journai, 6, who are free of the disease. The disease is very rare in African Americans. One of every 30 Ashkenazi Jews carries a copy of the recessive gene, and genetic screening for the disease is now common prior to Jewish marriages. French Canadians, Amish in Pennsylvania and people from the Louisiana bayou also have an increased risk of the disorder. While the Small family is aware of some white ancestors and some relatives from Louisiana, Nadine said almost all of her side of the family is from the West Indies, and she has no known relatives from high-risk groups.
Infantile Tay-Sachs is by far the most common form of the disease, but Jashaia developed symptoms late enough to be diagnosed with the rarer juvenile form of Tay-Sachs. Her doctors could offer little in the way of treatment. Jashaia's neurologist did mention that researchers at Duke University Medical Center had begun experimental procedures to see if transplants using umbilical cord blood could help stop the progression of Tay-Sachs. Cord blood is a rich source of stem cells and has shown promise in treating several diseases. Stem cells from bone marrow have been used for decades to treat leukemia, and more recently, oncologists have also been using cord blood for the blood cancer.
That's because stem cells in cord blood have some advantages over those harvested from bone marrow, said Dr. Suhag Parikh, a pediatrician in the blood and bone marrow division of the Duke University Medical Center. Stem cells in umbilical cord blood are less mature and tend to adapt more readily to new hosts than bone marrow stem cells, usually donated by adults, he said. Only about 30 percent to 40 percent of potential bone marrow recipients find a donor with a close enough genetic match for a successful transplant. With cord blood, however, 90 percent of potential transplant patients can be matched, he said. The greater ease in finding genetic matches is valuable for minorities, who are underrepresented on bone marrow registries and, therefore, less likely to find matches.
Cord blood cells, however, are expensive - at least $25,000 per transplant unit. Cord blood does not usually generate enough new cells to treat adults, who require multiple units of cord blood, he said. The use of cord blood to treat Tay-Sachs is relatively new and experimental. By the time Jashaia was referred, Duke had treated only a handful of Tay-Sachs patients. Duke had achieved some success extending the lifespan of children with another fatal disorder called Krabbe disease. Children with Krabbe disease lose motor function and often die before age 2.
Duke researchers found that cord-blood transplants weren't a cure for Krabbe. The transplants did block progression of the rare brain disorder but did not restore function already lost to it. The experience with Krabbe patients made it clear that the earlier in life cord-blood transplants could be done, the greater the potential benefit. Early results with Tay-Sachs patients showed the same pattern. Green-Small said Duke doctors told her before the transplant that, in the best-case scenario, Jashaia's symptoms would stop getting worse. That might mean she would be blind and unable to walk or talk.
"It was kind of like tunnel vision. If we don't do this, she doesn't have a chance," Green-Small said. "And that was something we couldn't accept." "It was that or not have her at all," Dyvon Small said. Dolores Barber, Dyvon's mother, wasn't so sure about the decision. The Hartford woman questioned whether her son and daughter-in-law might be ready to face the reality of caring for a severely disabled child. "I think they really did not know what they were getting into," she said.
For most of the past five months, the Smalls have lived in North Carolina caring for Jashaia. Barber cares for Dyvon's 12-year-old son, and Nadine's mother, Maggie Anderson of Hartford, is taking care of the couple's two girls as well as Nadine's 12-year-old son. The Smalls have been helped by Dyvon's employer, Waste Management Inc., which negotiated with their insurance carrier to help pick up the cost of the procedure, which the Smalls say has run to about $600,000. Even with the insurance coverage, the Smalls have spent all of their savings and Dyvon Small's retirement account to be with Jashaia. The couple also know now that the cord-blood transplant will not bring back the vivacious baby they knew.
Jashaia barely survived a bout with graft-vs.-host disease, in which the immune system attempts to kill off foreign cells from a transplant. She has had trouble eating and has had to have fluid drained from her lungs. The condition has kept her in and out of the hospital for weeks. It will take doctors as much as a year to know whether the stem cells in the cord blood have begun to block the disease, Parikh said. In the months before the stem cells start working, the neurological damage Jashaia suffers will be irreversible. No matter what the outcome, doctors say they will learn from Jashaia. Is it too late to try cord-blood stem-cell transplants in Tay-Sachs patients at 4 years or 2 years or even 1 year? Duke researchers say they don't know.
"Perhaps we can do a transplant in utero," Parikh said. "I think we need to try to define parameters. How much time do we have?" When Green-Small allows herself to feel optimism, she hopes her daughter will at least retain ability to express herself, an ability she has always had, even though Tay-Sachs robbed her of most of her ability to use words. Green-Small has no doubt the transplant was the right thing to do. "I'll keep fighting for her because she can't fight for herself," she said. "She is the greatest gift I have ever received."
Thank you for your faithfulness in posting these articles. You're doing a great thing, and may you be rewarded richly!
This little girl is blessed to have such caring parents.
Thank you for posting this.
Oh, how sad : ( I sent up a prayer, and anyone reading the story might want to send up one too.
I was in a therapy training group with a woman whose child died at home at age 4 after four harrowing year of decline. We were learning techniques of processing grief, and this poor woman's agony was wrenching.
I just don't understand the reluctance to use embryos that are going to be discarded anyway.
why are you bringing up embryos when embryonic stem cells are not curing anyone and in the case of this girl, it's umbilical cord cells that may work. Nothing in the article is mentions embryos? So far adult stem cells cures 55 different diseases while embryonic cures NONE and have caused people to die from tumors.
Ummm. Mostly because its not shown any sign of being medically useful (Any more than making a nice car with a tunnelling microscope), while giving abortion activists a misleading argument to show that abortion is useful...plus there's the whole cloning argument.
That, by the way, has not a thing to do with this article. Embryonic stem cells were not in play here.
I have a friend whose son went through a cord blood transplant at Duke. I think he's doing okay. He also had a genetic disease.
Tay-Sachs is a real world example of a mutation, i.e. one of those changes which evolutionists are forever telling us allowed us to rise above being monkeys.
Prayers up for this precious little girl and for her family. I know too well the pain of trying to get help for my son and the best that medical science was able to offer failing.
yes, you are right, a mutation is less genetic information and results in disease.
The Los Angeles Times did a hit-piece on umbilical cord blood maybe a year ago.
I guess it was an attempt to divert attention from the so-far-fruitless
attempt to use embryonic stem cells to combat diseases. And that
the California taxpayers were going to have $3-6 Billion extracted to
pay for an unproved therapy.
(Don't get me wrong: embryonic stem cells may yet be a miracle cure.
But that's what venture capital companys are supposed to fund)
The real kicker of the article was the interview with a lawyer that was
chasing clients to sue umbilical cord blood banks, presumably under
the guise that the banks were promising too much to customers.
Poor little tyke. Prayers for her and her family.
I saw a thing on film recently in which a reporter asked Richard Dawkins if he could name a single case of a mutation which resulted in an increase in information, and the guy was totally stumped; he just sat there with a dumb look on his face for a whole minute or thereabouts.
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