Sickle cell disease: Attempting to improve transition from child to adult care

September is Sickle Cell Disease Awareness month and because of these kinds of campaigns, many people, including physicians, feel like they "know" about the disease. They know that the disease results from a disorder in hemoglobin, a part of the red blood cell responsible for transporting oxygen throughout the body. Many people are also aware that a hallmark of the disease is that red blood cells become crescent shaped, or "sickled." And, the disease is known to be most common in people of African American descent but it also affects Latinos and other ethnicities.

What is less known is that when red cells sickle, they clog vessels and block blood flow -- resulting in organ damage -- especially to the lungs, kidney and brain. Many people are also unaware of the brutal pain resulting from a blocked blood vessel -- similar to the pain associated with a bone fracture -- and that the pain usually requires narcotics. Yet patients are generally under-dosed on their pain medication resulting in emergency room visits where they are misdiagnosed or worse -- accused of being a drug addict seeking access to pain meds.

Sickle cell disease had been considered a pediatric ailment since people with it generally didn't live to adulthood. As pediatricians, we've done a good job caring for our patients -- 95% now live to their 20th birthday. Unfortunately, when our patients prepare to leave the pediatric system, a smooth transition to adult healthcare is lacking -- 50% of patients with sickle cell disease die before their 48th birthday. Even the patients who do survive, but receive inadequate care, can be affected in devastating ways -- such as neurological impact from stroke or compromised organ function. This problem of inadequate care is in large part due to the number of patients with the disorder -- only 10,000 in California -- so most healthcare providers have no experience managing these complicated patients.

For the past 20 years, there has only been a single FDA-approved treatment, a drug developed for battling cancer called hydroxyurea. While this drug can reduce complications and reduce deaths by 40%, adults with the disease are not receiving it because few adult healthcare providers are experienced in caring for patients with sickle cell disease.

The challenge for us at Children's Hospital Los Angeles, and at other institutions with a focus on sickle cell disease, is to share our expertise in managing these complicated patients beyond the pediatric stage so that when a cure is available -- some time in the foreseeable future -- the current generation of young adults with sickle cell disease will be healthy enough to benefit.