Living with sickle cell disease
Ken West was born with sickle cell disease. Both of Ken’s parents had sickle cell trait, which made them carriers of the gene, but they never had the disease. Ken has one sibling, a younger brother, who does not have sickle cell disease or sickle cell trait. “I didn’t really know about it as a kid,” Ken says. “I’d have pain – sickle cell crisis – and I would go to Harborview Medical Center. I didn’t know anybody else who had it.”
Sickle cell anemia is a serious inherited condition in which the body makes an abnormal type of hemoglobin that causes red blood cells to become “c-shaped,” like a sickle. These cells are very sticky and tend to rupture in circulation resulting in chronically low red blood cell counts, or “anemia.” Sickle cell anemia is found in people of all ethnic groups but is more common in African Americans and those whose ancestors are from Middle Eastern, Mediterranean, Southeast Asian, Caribbean, Central and South American countries.
“Back when I was a kid, they didn’t have a good grasp of what sickle cell disease was. I would be put in an oxygen tent and given lots of pain killers. They understand more now,” Ken says, “even though the treatment isn’t much different. It has been 100 years since the discovery of sickle cell disease, and there have been some advancements, but much more work needs to be done.”
Sickle cell crisis
Sickle cell crisis is when the sickle-shaped red blood cells stick to other blood cells and the blood vessel wall so a “sludge” is formed that blocks the blood vessels and deprives downstream tissues of nutrients and oxygen. This can occur in any organ tissue in the body and causes severe pain. When the “crisis” begins, Ken says he can feel twinges of pain, or pain pricks, in his joints and back. That’s his signal to relax, drink fluids, and breathe. “Sometimes I can avoid a full crisis by following these techniques,” Ken says. “Best case scenario, I take ibuprofen and it all goes away.”
A sickle cell crisis can last for a few hours or up to a week. “It’s harder to alleviate pain when you’re in the middle of a crisis than if you get at it early, just as it’s starting,” Ken says. “You have to be proactive, not reactive.”
People in their teens and twenties seem to have a higher incidence of sickle cell crisis, which may be due in part to the changing hormone levels in adolescence and pressures of growing up, Ken says.
“As individuals with sickle cell disease grow older, the cumulative damage from recurrent crises and chronic anemia progresses to organ dysfunction and sometimes to organ failure. The organs affected can be highly variable between patients with joints, liver, kidney, heart, and lungs being commonly affected,” says Ken’s physician, Dr. William E. Hobbs, assistant professor of Medicine in the Hematology Division at University of Washington School of Medicine.
For Ken, sickle cell disease has affected his hips more than any other place in his body. He had his hips replaced in his 30s, and now in his 50s, he’s having the replacements replaced. But it can be different for other people.
“The severity of the disease is highly variable between individuals, with some minimally affected and others severely affected. The reason for this is not known, but is presumed to relate to complex sets of genetic features that influence disease manifestations,” says Dr. Hobbs.
Finding Seattle Cancer Care Alliance
Ken grew up in Seattle. When he moved to the south end (Kent area) in his 40s, he says it became difficult to find a hematologist who really understood sickle cell disease.
“It’s important to have continuity of care,” Ken says, especially when you have a chronic illness. That’s when he began going to Seattle Cancer Care Alliance and seeing Dr. Hobbs.
“Initially it felt funny being in a place with so many cancer patients. But now, it’s not a big deal,” Ken says.
During the recovery period from hip surgery, Ken has red blood cell exchange transfusions every couple of months. His sickle red blood cells are removed from circulation while he simultaneously receives a red blood cell transfusion to replace his sickle red blood cells with non-sickle red blood cells. The idea is to strike a balance between the sickle cells and the healthy red blood cells to avoid complications while healing.
“Seattle Cancer Care Alliance is a good organization for people with sickle cell disease,” Ken says. “You know your doctors and the people who work there and they know you. If you have a crisis, it can be a challenging experience and some emergency room doctors may not know much about this disease. SCCA mitigates that. I can get everything I need in the infusion room here…oxygen, pain medications, and fluids… without going to the hospital or an emergency room.”
Under Dr. Hobbs’ care, Ken has been taking a medication called hydroxyurea for the last several years. It’s a drug that forces each red blood cell to make fetal hemoglobin instead of sickle hemoglobin, lessening the likelihood for the red cell to sickle. Hydroxyurea has other effects as well. It decreases the frequency and severity of pain episodes and reduces organ damage. It’s helped Ken a lot; he hasn’t experienced a severe sickle cell crisis in several years.
Red blood cell transfusion and exchange transfusions are also often used for those with severe disease. However, blood transfusions have complications in sickle cell disease. Complications include iron overload and the development of antibodies against donor red blood cells. The SCCA Sickle Cell Disease Clinic was involved in the first clinical trials of a drug now routinely used that effectively removes excess transfused iron from the body. In addition, in conjunction with the Puget Sound Blood Center, the SCCA Sickle Cell Disease Clinic has initiated a protocol to reduce the likelihood of sickle cell disease patients’ developing antibodies against transfused red blood cells.
Bone marrow transplantation is another treatment for sickle cell disease, and will actually cure it, but it is not a therapy that is currently available to all patients. An exact stem cell donor match must be found and the conditioning therapy, which is actually the destruction of one’s own blood cell production and immune system leading up to the transplant is very tough on patients.
“A number of new drugs are currently in clinical trials, targeting a number of different pathways involved in the disease,” says Hobbs, who, along with Dr. Jose Lopez at the Puget Sound Blood Center, is involved in a research study to better understand how sickle cells stick together as a means to develop new therapies.
“As a kid, I didn’t want others to know that I had sickle cell disease,” Ken says. “And my mother was over-protective.” He didn’t want other kids to know he was different and there wasn’t much support for kids with his disease when he was young. He didn’t know any other kids growing up who had it, either.
As an adult, Ken tries to help people who are living with sickle cell disease. He is the president of the Metropolitan Seattle Sickle Cell Task Force, a community group that raises money for community outreach events like Sickle Cell Camp, where kids with the disease can associate with one another, learn about their disease, and just have fun. He also volunteers as a camp counselor when he can and volunteers for the Northwest Sickle Cell Collaborative (between Seattle Children’s, Mary Bridge Children’s Hospital in Tacoma, Odessa Brown Children’s Clinic, along with Sacred Heart Children’s Hospital, Group Health Cooperative, and Metropolitan Seattle Sickle Cell Task Force). www.nwsicklecell.org