22 issue of New England Journal of Medicine.īy 12 weeks, all the patients had begun growing their own T cells and B cells, which are critical for healthy immune systems. HT was the first of 10 Artemis-SCID babies to be safely transfused with their own gene-corrected stem cells as part of a Phase I/II clinical trial reported in the Dec. Cowan and Puck offered the clinical trial as an alternative. He was put on a waiting list for an unrelated donor match. At UCSF, HT’s family learned that neither his brother nor his parents were a match. Artemis-SCID patients usually respond more poorly to standard bone marrow transplants than other SCID patients, with complications ranging from marrow graft rejection to premature death. Gene correction had been used with other genetic forms of SCID but attempting it with Artemis-SCID was riskier. Four out of five times, there isn’t a sibling match for marrow, and you have to find an alternative donor, which typically means more severe complications and more intense therapy.”Īs luck would have it, Cowan and Puck had just embarked on a Phase I/II clinical trial for a new kind of Artemis-SCID treatment that involved transplanting a child’s own gene-corrected stem cells, rather than a donor’s. “When you don’t have a matched sibling, it has only about a 50 percent survival rate even with modern transplant technology. “Artemis-SCID is one of the hardest genotypes of SCID to treat,” noted Cowan. With the results of the bone marrow tests still pending, HT was airlifted to UCSF with his parents to meet pediatricians Mort Cowan, M.D., and Jennifer Puck, M.D., internationally known experts in researching and treating SCID. Video produced by Gillian Grisman First in the world Mort Cowan and Jennifer Puck discuss the research that led to this clinical milestone. Lives Transformed: Laverna Shorty describes her grandson HT’s journey while Drs. He had norovirus he couldn’t nurse and had to be on a bottle, but even then, he wouldn’t latch on,” Shorty said. HT was in the Phoenix hospital for about a month. “They told us the best hospital for SCID was UCSF, but HT needed to be a little older before it was safe to airlift him.” “When I went to Phoenix to visit HT, I had to scrub my hands up to my arms and wear a gown and mask,” Shorty said. The standard treatment for Artemis-SCID is a bone marrow transplant from a donor, ideally a matched sibling.īack in Phoenix, doctors tested the blood of HT’s brother and parents to see if they were a match and awaited the results, which would take several weeks. They are frequently plagued with a poor quality of life due to repeated and persistent infections, chronic diarrhea, and failure to gain weight. HT was found to have a rare mutation in the DCLRE1C or Artemis gene, meaning he had Artemis-SCID - the most serious of primary immunodeficiencies, otherwise known as Bubble Boy or Bubble Baby Disease (females can have it too).Ĭhildren with Artemis-SCID lack a functioning immune system and are highly susceptible to infections, which often accumulate and become severe, even deadly. It would be years before it felt like the world started up again. “When you hear something like this about your child, your world kind of stops.” “The pediatrician told us it was very serious and HT needed to be kept in isolation as a precaution,” said Shorty. Doctors at Tuba City Regional Hospital had found something abnormal in HT’s blood tests, and he needed to be airlifted to Phoenix Children’s Hospital for more tests. Within days, however, the family’s exuberance gave way to fear. “He was a beautiful baby, and we were all excited that he came into the world,” said Laverna Shorty, his paternal grandmother. With his shock of black hair and shining black eyes, Hataalii quickly won over everyone he met. When Hataalii Tiisyatonii Begay was born on April 7, 2018, his family members rejoiced in the hospital in Tuba City, Ariz., and on the remote Navajo Nation reservation where they lived.
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