Helping patients—and physicians—endure the challenges of Sickle Cell Disease
Millions of people worldwide, including more than 70,000 Americans, are living with Sickle Cell Disease (SCD). The most common genetic disorder seen globally, SCD almost exclusively affects African American and Hispanic populations and causes chronic, acute pain and multiorgan disease. But despite its prevalence and debilitating effects, SCD therapies remain severely limited.
“There is only one drug to treat Sickle Cell Disease and it results in minimal improvement,” said Hematologist and Director of the Adult Sickle Cell Disease Program Hedy Smith, MD, PhD. “This disease is physically devastating, emotionally disabling and socially isolating. Patients struggle to plan their lives, as pain attacks strike randomly and often result in hospitalization. The medical community has known about SCD for more than 100 years, yet there has been an astonishing lack of attention and interest in finding more effective therapies.”
Caused by a single point gene mutation, Sickle Cell Disease manifests early in childhood. Over time, it may directly result in an increased risk of stroke; cardiac, lung, eye and bone diseases; life-threatening blood clots; and serious infections, all leading to irreversible organ injury. Ultimately, the disease causes premature death; median survival is 42 years in men and 48 years in women.
Clinicians care for Sickle Cell Disease patients by managing their pain, primarily with narcotics and blood transfusions. “But SCD patients’ pain is never completely controlled and pain relief is temporary,” said Dr. Smith. “Medical professionals must reassess how theydefine success when treating these patients. It is truly the passion of a few.”
Creating Comfort, Building Trust
Dr. Smith and Cathy Rosenfield, MD, who serves as Chief of Clinical Affairs for the Division of Pediatric Hematology/Oncology and Director of the Pediatric Sickle Cell Disease Program, see nearly 100 SCD patients in the adult and pediatric clinics. The adult program was developed to mirror a medical home, with a dedicated group of nurses on the North 8 inpatient unit and in the infusion center; a physican assistant and social worker also are on staff in the outpatient clinic. The pediatric program works in conjunction with Child Life Services and Social Work Services to educate parents and children, so the entire family understands the disease, recognizes the symptoms and knows who to call in the event of an emergency. All patients are provided with access to a day program option, so they can be treated for pain flares and go home the same day, instead of being admitted to the hospital.
“Every one of our patients is regarded as special,” said Dr. Smith. “We know each patient by name, face and voice. Our patients are treated promptly, are never judged and are cared for by people who know them, so they feel comfortable. We wanted to create an environment in which patients feel welcomed, loved and at the center of their care plan.”
Social Support, Easing Transitions
Recently the Sickle Cell Disease Program founded the SCD Support Group, a social outlet for patients to promote self-advocacy, empowering them to take an active role in their care. Dr. Smith and Dr. Rosenfield also are in the process of developing a formalized program to ease the very difficult transition from pediatric to adult care. This transition program will allow pediatric patients to meet and build a relationship with adult providers when they are in their mid-to-late teens, before their care is formally transferred at age 20.
“The earlier we start the transition process, the easier it is for the patients,” said Dr. Rosenfield. “The fear of the unknown is the biggest obstacle to successful transition. If children get a better sense of the care they will receive as an adult through opportunities to meet doctors and other patients, it can help allay that anxiety.”
Working Towards a Cure
In addition to their clinical work, Dr. Smith, Dr. Rosenfield and their teams are actively involved in Sickle Cell Disease research. They offer patients access to therapeutic trials and facilitate referrals to a NIH gene therapy trial that is currently underway. Perhaps the most exciting new advance in SCD patient care has been the identification of bone marrow transplant as a potential curative therapy for the disease. However, a dearth of donors in the national registry and a lack of awareness about bone marrow transplant as a viable option has limited its availability for patients.
“My hope and goal is to offer bone marrow transplant therapy to every Sickle Cell Disease patient,” said Dr. Smith. “But we can’t get there until we satisfy a tremendous need for public education on the disease and see an increase in philanthropic efforts to support research and advance the field. Only then will we be equipped to change the lives of this patient population.”
For more information about the Sickle Cell Disease Program, or to make an appointment, please call ext. 6-6227.