Raphael Thys
Kevin Wake wears a sickle cell awareness bracelet. He has been treated in hospital emergency rooms
Recently, a 12-year-old boy became the first patient with sickle cell disease to begin commercially approved gene therapy that could potentially cure the condition.
The genetic disease affects millions worldwide and at least 100,000 Americans, according to the CDC. Patients with sickle cell inherit a mutation in the gene responsible for producing hemoglobin, which is the protein that carries oxygen in red blood cells. The condition results in the production of abnormal hemoglobin, which causes normal spherical red blood cells to become crescent-shaped, which prevents their ability to flow smoothly through the bloodstream. Consequently, patients with the disease can experience severe pain, organ damage and many debilitating complications.
The promise of gene therapy provides hope for curing the disease and providing patients with the potential for an ordinary life. The therapy involves removing bone marrow stem cells from a patient, which are precursors for an individual’s red and white blood cells in the body. The stem cells are then sent to a lab where a healthy hemoglobin gene is incorporated into the stem cells to correct the patient’s inherited mutation. The modified stem cells are then sent back and transplanted into the patient.
This therapy could be a huge game changer for patients struggling with sickle cell disease because of all of the complications that can occur with the condition. Sickled red blood cells can block the delivery of blood and oxygen to important organs and structures, which result in a wide array of symptoms and severe pain in the body. As an example, lack of blood flow to the bone can result in death to the bone, a condition called avascular necrosis. The bone and a potential joint like the hip can collapse, leading to debilitating pain, early arthritis and limping.
If the sickled cells block blood flow to the brain, patients can suffer a stroke and present with confusion, sudden numbness and weakness on one side of the body and difficulty speaking or understanding speech. About 10% of children with sickle cell disease will develop a stroke with the aforementioned symptoms, according to the CDC.
Although gene therapy addresses the root cause of the problem patients with sickle cell disease face, it does not come without challenges. The potential cure will cost the 12-year-old boy who will be receiving it over $3 million, according to The New York Times. Although insurance will cover his gene therapy, it remains to be seen if insurance companies will pick up the tab for other sickle cell patients who qualify for gene therapy in the near future.
The majority of sickle cell patients are Medicaid beneficiaries, and less than 70% of U.S. doctors accept new Medicaid patients, according to the CDC Foundation. This highlights the inherent disparities in access to care since Medicaid is a government program that provides health insurance for those with low-income and limited resources. In addition, Medicaid limits access to specialized health care, as research has shown significantly fewer patients with Medicaid visit a hematologist or a doctor that specializes in the treatment of blood disorders compared to patients that have commercial insurance. Without specialized care from experts trained in treating sickle cell disease, patients will not get the treatment they need to effectively treat their illness.
There is no doubt that emerging gene therapies provide a ray of hope and light for the many that suffer from sickle cell disease. The novel therapy also opens the door for challenges that may further exacerbate disparities that continue to increase among sickle cell patients.