Alecia Nero, M.D. Answers Questions On: Sickle Cell Disease

Common misconceptions about sickle cell disease (SCD) are that people are faking pain and seeking pain medication, which means there can be a lot of stigma with these patients.

Pain is a primary manifestation of sickle cell disease. Sickled blood cells that don’t flow smoothly can cause a blockage that cuts off blood flow to tissue, and the damage done to the tissue causes a highly inflammatory process. So there are two painful processes going on with a sickle cell disease episode: the blockage and the inflammation.

But because patients often come in looking healthy on the outside, it can be like an invisible disease; someone can look well and be in the emergency room screaming 30 minutes later.

So it can be difficult for people, including medical providers, to understand when someone who doesn’t look sick says his pain is an 8 or 9 on a 10-point scale. But these are often people who have pain most days of their lives and have developed somewhat of a tolerance to it.

Although sickle cell disease was one of the first described genetic disorders and we know a lot about it on a molecular level, there’s still a big lack of understanding about it.

There had been papers published – many from UT Southwestern – showing that the death rate among sickle cell disease patients increased sharply between ages 18 and 21 – the period during which they transitioned from pediatric to adult care.

It seemed that even with the advances that had been made in children’s sickle cell disease care, all the labor, work, and effort it takes to keep children alive into adulthood weren’t being extrapolated to the adult population.

By creating the Transition Sickle Cell Program, a clinic that focuses on adolescents, I’m working to bridge that gap and bring the adult and pediatric sides to the same table. It makes the transition of care more seamless and gives patients more care continuity.

In my research, I’m working to answer questions about what’s causing the spike in transition-age mortality, to develop standards of care, and to identify ways to streamline care. I’m also trying to determine if there’s anything we can learn from adults that we can take back to childhood care to prevent problems altogether.

Unfortunately, treatment options for sickle cell disease are currently limited to one FDA-approved drug (hydroxyurea) and, for select patients, ongoing blood transfusions. Transfusing patients with non-sickle cell blood helps dilute the concentration of sickled cells in the body.

Bone marrow transplant is the only available cure for sickle cell disease at this time. Researchers are looking at gene therapies, but those are far from being a reality in humans.

Because we don’t yet have a lot to offer sickle cell disease patients in the way of treatments, it’s especially important that they be engaged as much as possible in their care.