Sickle cell disease is a genetic disease that a ects red blood cells in the body. Each year about 2,000 children are born with sickle cell disease in the United States, the majority of which are African American. When both parents have the sickle cell trait, there’s a 25 percent chance that their child will have sickle cell disease. Sickle cell disease can a ect many di erent organ systems in the body. Important organs like the bones, brain, heart, and kidneys, which need a constant blood supply, can be damaged by sickle cells that do not move through the body as easily as normal cells. For the Wright siblings, it was very routine to have what they call ‘crisis,’ severe bone pain that was unpredictable in both duration and severity.
“Although they were diagnosed at birth, I didn’t start to notice symptoms until they were toddlers,” their mother Sharee says. “Fevers were the most common sign until they got older and started experiencing severe pain. It was very di cult as a mother to watch your children go through this. You learned to avoid certain triggers like extreme temperatures and u season, but it was hard with three young children.”
In 1999, Alequis, who was 7 at the time, su ered a stroke and needed a bone marrow transplant to save her life. Unity was just seven months old, but the doctors caring for Alequis tested her to see if she was an HLA (Human Leukocyte Antigen) match, which she was. HLA typing is used to match patients and donors for a bone marrow transplant by creating a DNA ngerprint. HLA are proteins found on most cells in the body, and the immune system uses these to recognize which cells belong in the body and which do not. e more similar they are, the less chance there is of rejection. Since half of HLA markers are inherited from the mother and half from the father, each full sibling has a 1 in 4 chance of being a match.
Alequis’ bone marrow transplant was performed at Yale New Haven Hospital and the family decided not to immediately schedule another transplant for another child, but to wait and see how Alequis recovered. In early 2015, when the time came for Kortne and Cachet’s transplants, they met with Dr. Michael Kent, Assistant Professor of Pediatrics and a member of the Pediatric Transplant Program at Yale. He worked to nd a regimen that would be well tolerated. “Once a patient is over the age of seventeen, transplant becomes more toxic for them,” he explains. “Our rst task was to determine whether or not they would bene t from transplant, and then nd a regimen that would be well tolerated.” Kortne and Cachet both received a reduced intensity method with less chemotherapy given in advance of their transplant to reduce toxicity, while still ensuring an e ective transplant. Kortne and Cachet received their transplants in the summer of 2016 and are more than 4 months post-transplant.
In June of 2016, Dr. Niketa Shah, Assistant Professor of Pediatrics, joined the Pediatric Transplant Program as Director. Dr. Shah came from a very high volume transplant program and brought with her the expertise and experience needed to treat patients like Kortne and Cachet and o er them a cure. Dr. Shah commented that up until the point of transplant, Kortne and Cachet’s disease was being managed by frequent blood transfusions and pain medication, and when those didn’t work, hospitalization was necessary. “ ey are both still on gra -versus-host disease (GVHD) prevention medication,” explains Dr. Shah, “but will eventually be weaned o of it completely. Unity’s cells have slowly stabilized in Kortne and Cachet’s bodies and they are not experiencing any further sickle cell disease related complications.” For patients that receive a transplant from a sibling, the cure rate is 80-90 percent. What makes the Wright family’s case so unique is that three siblings were diagnosed with the disease, and one sibling was a donor match for all three. Dr. Shah commented that she has never seen a case like this before.
The Pediatric Transplant Program at Yale is the only one in the State of Connecticut, and as Director, Dr. Shah’s goal is to grow the program regionally. Dr. Shah explained that the Transplant Program, as part of the Pediatric Hematology/Oncology Program at Smilow, performs various types of transplants for both malignant and non-malignant disorders of childhood. Dr. Shah comments, “Transplant is the only curative therapy for patients with sickle cell disease and the earlier they can get it, the better the success rate. Each sickle cell crisis causes damage to the body that can be irreparable. It’s important for both providers and patients to understand that if a patient has an HLA match donor, transplant can provide a cure.”
A few years before transplant, Cachet developed an autoimmune disease that le her paralyzed. Despite all the challenges with sickle cell disease, all three siblings say they had a normal childhood and they had learned to live with their disease. When it interfered with school, they worked with tutors or completed home schooling to catch up. ey avoided certain triggers and managed their pain when it came. Now a er the transplant their lives have changed dramatically. They are learning to adjust to normal life without having to constantly worry about sudden pain, cold, or fatigue. Both Cachet and Kortne will be attending Gateway Community College in the spring; Cachet plans to be a nurse and may return to Yale New Haven Hospital, but this time not as a patient.
e siblings joke that their sister Unity deserves an award for all the stem cells she has donated to her brother and sisters, and they realize what a di erent experience it was for each of them. However, they all agree that it was a part of their life and they got through it together. “ is is the hardest thing I have been through in my life, and at the time I didn’t have a support system in place,” Sharee says. “All I had was my children and there were times when all three of them were in the hospital at the same time. I never stopped believing that all of my children would have the opportunity to be healed. I prayed for a miracle and instead, thanks to the team at Yale, I got four of them.”