New Cure Gives New Life

New Cure Gives New Life

Shortly after her first son, Crispin, was born 23 years ago, Isabelle wept when she learned he had sickle cell disease (SCD) – a life-limiting and painful blood disease that she remembered had claimed the life of a young girl from her hometown in Africa. While she was grateful for the team at the Alberta Children’s Hospital who provided exceptional care for Crispin, it was devastating to watch him suffer and endure countless hospitalizations and transfusions to manage his condition. Imagine the heartbreak when she learned nine years later that her third son, Denis, also had sickle cell disease.

Fortunately, as Denis grew up, he had fewer painful crises than his older brother, but the worry and concern about the future for both her boys was always in the back of her mind.

Sickle cell disease afflicts approximately 5,000 Canadians. Malformed red blood cells – shaped like crescents or sickles – get clogged in blood vessels causing unbearable joint pain, lung complications, and the risk of stroke, heart disease and blindness. Historically, it has been treated with medication to increase red blood cell production along with transfusions of healthy blood. However, those treatments become less effective over time and multiple transfusions could lead to other serious complications from toxic iron build up in the liver.

Specialists at the Alberta Children’s Hospital are leading ground-breaking work that has unlocked a life-changing and life-saving cure for many children with sickle cell disease. Dr. Greg Guilcher is a clinician researcher and transplant specialist with the hospital’s Hematology, Oncology and Transplant (HOT) Program.

“While a form of blood and marrow transplantation (BMT) has been offered previously as a treatment option for sickle cell disease, many parents considered the risks too high and the long-term side effects too great to make that choice for their child,” explains Dr. Guilcher.

High doses of chemotherapy required to wipe out the child’s immune system can cause complications ranging from the development of another potentially life-limiting chronic condition (graft vs. host disease) to infertility to life-threatening transplant-related infections. Having kept a close eye on the evolution of successful treatment for adult SCD patients using low doses of radiation and no chemotherapy before transplant, Dr. Guilcher was eager to offer this option to children and teens in his care. Children are doing so well with this gentler form of BMT, the team is investigating the possibility of offering the treatment on an outpatient basis. This means a life-threatening disease could be cured with a simple infusion in the clinic and patients could go home that day!

Thanks to years of community investment in research and technology in the HOT program, the Alberta Children’s Hospital was well-positioned to become the first in the world to offer this milder BMT to young people.

“Children who have a matched sibling donor are able to tolerate this form of transplant with very few side effects,” says Dr. Guilcher. “The lower toxicity of this treatment plan makes this a much easier choice for families to consider.”

In 2013, Dr. Guilcher oversaw the world-first delivery of this less-intense transplant to a teenaged girl in his care. She was 100% cured of her disease. Since that time, the hospital has provided this new treatment to another 25 children in our community. They are all now living lives free of SCD. Based on these results, Dr. Guilcher is now the Senior Investigator for a multi-centre international clinical trial of this low-intensity transplant through the Sickle Cell Transplant Advocacy & Research Alliance (STAR).

“I am receiving calls regularly from hospitals around the world looking to replicate the kind of success we are having with our patients,” says Dr. Guilcher. “It’s very gratifying to know that our work is having this kind of global impact.”

Isabelle and her husband, Joseph, had mixed feelings about pursuing a transplant when they learned that their middle son, Elisee, was a perfect donor match for Denis.

“Since Denis wasn’t suffering as much as Crispin, we weren’t sure if it was necessary,” explains Isabelle. “But then we realized that we couldn’t predict the future and that sickle cell disease could be silently killing our son. We knew we needed to do it.”

After Dr. Guilcher explained the entire transplant process to the boys, their nerves were settled and they were ready to proceed. Just as the pandemic was starting to unfold last year, Denis underwent the procedure at the Alberta Children’s Hospital. After several weeks of regular follow-up, the family was thrilled to learn that the treatment was a complete success. Denis is now cured of his disease and will have every chance to live a full, pain-free life.

“It’s pretty amazing that I don’t have to worry about it anymore,” says Denis.

Instead of filling his days with medications, transfusions and clinic visits, he is happy to have more time to perfect his basketball skills.

While Dr. Guilcher is pleased that this lower-intensity transplant has been a game-changer for his SCD patients, he knows there’s more work to do. Patients like Crispin – without a perfect sibling match – motivate him to keep pushing the science.

“If half-matched transplants become safer and more standard, more young people like Crispin will be cured. We can only get there with more research and innovation.”

With recognized expertise in half-matched BMT, the HOT team is working to become the first Canadian centre to offer this form of transplant to SCD patients as part of a European trial currently underway.

“Dr. Guilcher is our hero,” says Isabelle. “We are so grateful that he’s here and that the community has supported this amazing team. Denis is cured because of them. And with their new research, Crispin may be someday, too.”

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