You are born with it. It can be debilitating. One can have a life of challenges ahead. Organs can fail. Strokes can occur. Spleens can practically disappear. Livers can fail. Bones can die. You can be judged, stereotyped, and ridiculed. Despite this, many have overcome and are overcoming. Many are making a life that is not centered around his/her disease. Some are teachers, industry workers, singers, dancers, and more. They are WARRIORS. Warriors with Sickle Cell Disease (Sickle Cell Anemia) and I am proud to serve in my role of nurse practitioner to care for them and to advocate on their behalf. September is Sickle Cell Awareness Month! I hope you will take this time to learn more about this complex disease.
Sickle cell disease is an autosomal recessive blood disease. This means that it is inherited from the mother and the father who each have a sickle cell trait. Each parent can pass each trait to their offspring resulting in a person being born with sickle cell disease. Each pregnancy that results from two persons with a sickle cell trait has a one in four chance of the baby being born with sickle cell disease. The others could possibly be born with the trait. A lot of people do not know if they have the trait because the trait is not usually associated with illness or symptoms.
Persons with sickle cell disease have red blood cells (hemoglobin) that take on a sickle or crescent shape (think half-moon). As a result, the oxygen is not carried well by the red blood cells of the body. This can cause many complications due to the odd-shaped cells getting “stuck” in areas of the body that can cause life-threatening conditions such as acute chest syndrome and stroke. Other complications can include organ damage, pulmonary hypertension, blindness, and leg ulcers. Likely the most well-known complication of sickle cell disease is terrible pain crisis. All aspects of the body can be affected by sickle cell disease which is why organs can fail over time.
For the longest time, there had not been many developments in the treatment of sickle cell disease. Finally, two new medications have been developed to help make sickle cell disease more manageable. The medication, Adakveo is an infusion used to help reduce the risk of sickle cell pain crises in patients. The medication Oxbryta is a pill used to help with the anemia (decreased blood count) often seen in patients with sickle cell disease. Prior to these new developments, the mainstay of treatment was a drug called hydroxyurea. The average life expectancy for a person with sickle cell disease is between 42 and 48. However, many patients are living beyond this with proper treatment and care.
If you are a person with sickle cell disease you should remember to stay hydrated, avoid overly strenuous activity, avoid high altitudes, and wear plenty of layers in cold temperatures. If you are the loved one of a person with sickle cell disease you can encourage them to follow the tips noted above.
There are approximately 7 million people worldwide with sickle cell disease. About 100,000 of those persons are in the United States. Black persons are at increased risk for inheriting Sickle Cell Disease. Unfortunately, a lot of stigma surrounds patients with sickle cell disease. This often has to do with reasons such as race, disease status, socioeconomic status, delayed growth, and puberty and having to have acute and chronic pain managed with opioids. Sickle cell disease is a big example of the health equity issues that exist in the United States. For example, Cystic Fibrosis is a genetic disease that primarily affects persons who are White. There are approximately 30,000 persons in the United States with Cystic Fibrosis compared to the 100,000 persons with Sickle Cell disease who are mostly Black yet funding for Cystic Fibrosis is 8 times that of funding for Sickle Cell Disease!
Many wonder, can Sickle Cell Disease be prevented? Yes, it can but it takes open and honest communication among families. Sometimes, families do not disclose family history very well or at all which results in a lack of knowledge through the generations. A simple blood test is all that is needed to determine if someone has a sickle cell trait or sickle cell disease. It is important to know your status especially if you have known relatives with sickle cell disease because if you have the trait you can pass the gene on to your children. When persons are dating, it is wise to consider asking a person about his or her sickle cell trait status especially if you know that you have the trait. Genetic counselors are also a valuable tool to help guide families during these processes as needed.
Sickle Cell Disease is a complicated disease that impacts the lives of those with the condition significantly. A supportive care team is very important and starts in infancy. As persons with Sickle cell disease age, they transition to adult healthcare providers. Additionally, there are organizations such as the American Sickle Cell Anemia Association and The Sickle Cell Disease Association of America that work to provide support for patients and families affected by Sickle Cell Disease.