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Stem cells are immature cells that have the capability to develop into all of the different types of cells. The two leading sources of cells include mesenchymal cells (from blood) and neural stem cells (from brain). In mice, stem cells have been shown to spread throughout the brain, a necessity when it comes to treating diseases that affect the entire brain. Stem cells can also be genetically modified to produce and secrete high levels of a missing enzyme, such as Hex-A. Human clinical trials may still be many years away but the results in mice are promising. For example, when neural stem cells genetically engineered to produce Hex-A were inserted into the brains of mice with Tay-Sachs they traveled throughout the brain and produced therapeutic levels of the needed enzyme. The enzyme then broke down the GM2 ganglioside, preventing its accumulation. For general information explaining stem cells, as well as current research, see

Despite the lack of human trials, a number of humans with Tay-Sachs disease have had stem cell transplants.  Dakota Bihn, whose parents started the Cure Tay-Sachs Foundation, had a stem cell transplantation.  She survived and is now producing the Hex A enzyme which is detectable in her blood.  Whether it is crossing the barrier to the brain, where the Hex A is needed, is not yet known. 

The video above is entitled Dakota's Dream.  It is a moving and informative video which describes Dakota's diagnosis with Tay-Sachs, her experience receiving a stem cell transplantation, and why we so desperately need more research in order to find a cure. It can be found on YouTube as well as on the Cure Tay-Sachs Foundation website.

Below is an article in The Hartford Courant in May 2006 which tells the story of Jashaia Trinity.

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 Umbilical Cord Blood Is Child's Last Hope, Stem Cells Could Halt Tay-Sachs Damage
The Hartford Courant ^ | 05.16.06 | WILLIAM HATHAWAY

Posted on Sun May 21 21:47:07 2006 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."

Taken from the Free Republic website:

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