A Patient Advocate’s Take on Sickle Cell Disease: The Pain and the Promise

September is National Sickle Cell Awareness Month. First officially recognized by the federal government in 1983, National Sickle Cell Awareness Month calls attention to sickle cell disease (SCD), a genetic disease that researchers estimate affects between 90,000 and 100,000 Americans. CIRM is funding a clinical trial focused on curing the disease with a stem cell-based gene therapy. 

People with this debilitating condition face a number of barriers in getting the help they need to keep their pain under control. In addition to the difficulty of accessing medication, they often have to overcome suspicion and discrimination.  Patient Advocate Nancy Rene, of Axis Advocacy  wrote the following blog about the problems families with SCD face.

Sickle Cell Disease Patient Advocates Adrienne Shapiro and Nancy Rene.

Sickle Cell Disease Patient Advocates Adrienne Shapiro and Nancy Rene.

Sickle Cell Disease: The Pain and the Promise

By Nancy M. Rene, co-founder, Axis Advocacy

The Disease

Sickle Cell Disease is a group of inherited red blood cell disorders. It is the most common genetic disease in the US. Close to 100,000 Americans have sickle cell disease.  Although it affects persons of African descent, it can also be found in Latino families and families from the Middle-East and India. World-wide there are at least 20 million people with the disease.

Normal red blood cells are round like doughnuts, and they move through small blood vessels in the body to deliver oxygen. Red blood cells in the person with sickle cell disease become hard, sticky and shaped like sickles. When these hard and pointed red cells go through the small blood vessels, they clog the flow and break apart. This causes pain, inflammation and organ damage.

The Pain and the Promise

In the last 30 years the United States has made great progress in treating sickle cell disease.  All states now have newborn screening and most children are living to adulthood. However, many children with SCD don’t receive important services to prevent serious complications from the disease.

Unfortunately, according the the American Society of Hematology, the mortality rate for adults appears to have increased during the same 30 years! Patients with SCD experience long delays in the ER, and are often accused of being drug seekers. Once admitted to the hospital they are confronted by medical staff with little understanding or empathy. Research from Dr. Michael DeBaun found that adults with this disease lack access to a primary care doctor who is knowledgeable about sickle cell.

The biggest Pain for those with sickle cell disease does not come from the disease itself but from treatment by the medical community.  When, for most people, going to the hospital represents a place to get help and relief from the burdens of a challenging disease, those with sickle cell see going to the hospital as going into battle. They “gear up” with copies of medical records and NIH guidelines, they make sure they have a diary to record inappropriate remarks from medical staff, they ask a friend to come along as an advocate to help them withstand the implied racism and institutional bias with which they are confronted. Even when new hospitals or clinics are built, they often do not live up to expectations, offering no emergency support or 24-hour access.

The promise of course comes from the diligent work of researchers and clinicians who run model programs.  Bone marrow transplants, while limited in use, have actually cured a number of young people, saving them from pain and organ damage that await their adult years. Pharmaceutical companies are completing clinical trials on several drugs that can reduce the symptoms of sickle cell at the molecular level. These drugs could greatly reduce the effects of the sickle cell crisis which often results in a lengthy hospital stay.

Stem cell research, while moving slowly, can be the holy grail of medical practice, curing many of the 100,000 Americans with sickle cell.  A cure would lead to avoiding the dreaded ER, being free of pain and organ damage, living a healthy life, and having children without worrying that they too would be born with this disease.

What is missing is linking research to clinical practice.  It is clear that the CDC, FDA and NIH have finally understood this missing piece.  The NIH published an extensive report, Guidelines for the The Treatment of Sickle Cell Disease, in 2014. NIH convened the 10th Annual Focus on Sickle Cell that brought researchers, clinicians, and other leaders together to make presentations on their work in sickle cell. The Sickle Cell Research Foundation convened an outstanding medical conference in Florida that again brought leaders together to gain knowledge from one another. ASH, the American Society of Hematology, is planning to launch a Sickle Cell Initiative this month.

We in the sickle cell community, patients, care-givers, and advocates, feel that we have finally got some big guns in this fight. Once doctors in all communities understand this disease, once they are aware of their own implicit bias and that of their institutions, there should be improvement in the treatment of people with this painful, debilitating illness.


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