Gene Therapy and Fertility Preservation Give Sisters Hope for Future

When Laura and Christopher Jones traveled to an orphanage in China, they didn’t expect to come back with two children. When they met Zinnia and Lainee, however, they knew that even though they were not sisters, their bond was just as close and they couldn’t be separated. They adopted both girls, who are two of their eight children – four of their own, and four adopted.

Zinnia and Lainee are now 13 and 12 years old, respectively, and, although they aren’t biological sisters, they both have beta thalassemia, a genetic blood disorder in which the body creates an abnormal type of hemoglobin that destroys red blood cells, resulting in severe anemia.

After years of treating the girls with frequent blood transfusions, which aren’t without long-term risks, the girls’ hematologist, Alexis Thompson, MD, MPH, discussed with the family if they would be interested in participating in a gene therapy clinical trial for thalassemia. The study led by Thompson uses the patient’s own stem cells to treat the blood disorder.

“We saw remarkable outcomes using gene therapy, with most patients no longer needing monthly transfusions,” said Thompson, head of Hematology and Director of the Comprehensive Thalassemia Program at Lurie Children’s. “These study results exceeded our expectations with clinical benefit for nearly all patients, and suggest that gene therapy may be an effective treatment for thalassemia in the future.” Zinnia completed the trial and Lainee is expected to be enrolled soon.

Because the conditioning regimen for the stem cell transplant is known to impact fertility, the family met with members of our Fertility and Hormone Preservation and Restoration Program, and elected to proceed with ovarian tissue cryopreservation (OTC). In late 2017, pediatric surgeon Timothy Lautz, MD, performed Zinnia’s OTC. The procedure involves removing an entire ovary, slow freezing it, and storing it in liquid nitrogen. Later on, the tissue can be thawed and re-implanted.

“Since stem cell transplantation can affect the girls’ fertility and hormone function, OTC offers them the possibility of preserving fertility and having a family of their own in the future,” said Dr. Lautz.

After OTC, chemotherapy, stem cell transplant, and several months of hospitalization, Zinnia is home and doing well.

“The stem cell transplant is meant to be curative,” Laura said. “Which is absolutely amazing, but the risks of the conditioning regimen for the transplant definitely sounded scary. A side effect of chemotherapy is infertility, and the girls are too young to know if they want to have kids, they just want to feel better. With OTC, this treatment doesn’t take that choice away from them.”

Throughout this process, Barbara Lockart, DNP, was at the family’s side. Lockart’s role included counseling the girls and their parents and explaining the procedures in terms that everyone could understand.

“Both girls are articulate, spirited, special young ladies,” Lockart said of Zinnia and Lainee. “They were smart and engaged, were constantly asking good, insightful questions. They were active participants in their own healthcare, which, among pediatric patients, is a really stand-out quality.”

Lainee is scheduled for her OTC procedure and stem cell transplant later this spring, and after watching her sister go through the process, knows exactly what to expect.

More and more, stem cell transplantation is being used as a treatment for thalassemia. With a curative treatment, doctors are expecting these patients to live long and healthy lives, and therefore are giving a greater consideration to fertility preservation.

Just last year, a 24-year-old woman gave birth to a baby boy, she is believed to be the first to do so after having an ovary frozen before the onset of puberty at 9 years old. This result gives the Jones’ every reason to believe that Zinnia and Lainee will be able to expect the same.