Bubble Boy Disease Cured With Stem Cells

TIME Health medicine Bubble Boy Disease Cured With Stem Cells Alysia Padilla-Vacarro and daughter Evangelina on the day of her gene therapy treatment. Evangelina, now two years old, has had her immune system restored and lives a healthy and normal life. Courtesy of UCLA Researchers have treated more than two dozen patients with a treatment made from their own bone marrow cells

Alysia Padilla-Vacarro and Christian Vacarro owe their daughters life to stem cells. Evangelina, now two, is alive today because she saved herself with her own bone marrow cells.

Evangelina, a twin, was born with a severe immune disorder caused by a genetic aberration that makes her vulnerable to any and all bacteria and viruses; even a simple cold could be fatal. But doctors at University of California Los Angeles (UCLA) Broad Stem Cell Research Center gave her a new treatment, using her own stem cells, that has essentially cured her disease. Shes one of 18 children who have been treated with the cutting-edge therapy, and the studys leader, Dr. Donald Kohn, says that the strategy could also be used to treat other gene-based disorders such as sickle cell anemia.

Known to doctors as adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID), its better known as bubble boy disease, since children born with the genetic disorder have immune systems so weak that they need to stay in relatively clean and germ-free environments. Until Evangelina and her sister Annabella were 11 months old, We were gowned and masked and did not go outside, says their mother Alysia Padilla-Vaccaro. Our children did not physically see our mouths until then because we were masked all the time. We couldnt take them outside to take a breath of fresh air, because there is fungus in the air, and that could kill her.

Both parents wore masks at work to lower the chances they would be exposed to germs that they might bring back home. And they took showers and changed clothes as soon as they entered the house.

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SCID is caused by a genetic mutation in the ADA gene, which normally produces the white blood cells that are the front lines of the bodys defense against bacteria and viruses. The Vaccaros decided to treat Annabella in the same way that they cared for Evangelina; They were crawling and playing with each other, and every toy they sucked on, they stuck in each others hands and each others mouth, so we couldnt take one outside to have a grand old time and potentially bring something back that could harm her sister, says Padilla-Vaccaro.

The only treatments for SCID are bone marrow transplants from healthy people, ideally a matched sibling; the unaffected cells can then repopulate the immune system of the baby with SCID. But despite being her twin, Annabella wasnt a blood match for her sister, nor were her parents. Padilla-Vaccaro and her husband, Christian, were considering unrelated donors but were concerned about the risk of rejection. We would be trying to fix one problem and getting another, she says.

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Thats when the doctors at the Childrens Hospital at Orange County, where Evangelina was diagnosed, told her parents about a stem cell trial for SCID babies at UCLA, led by Dr. Donald Kohn. As soon as they said trial, I thought, my kid is dead, says Padilla-Vaccaro of the last resort option. But a dozen children born with other forms of SCIDin which different mutations caused the same weak immune systemswho were successfully treated by Kohn convinced the couple that the therapy was worth trying. Kohn had one spot left in the trial and was willing to hold it for Evangelina until she matured more. Born premature, she was diagnosed at six weeks old and needed more time for what was left of her immune system to catch up to weather the procedure.

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Bubble Boy Disease Cured With Stem Cells