Sickle cell disease (SCD) is the most common genetic disorder in the United States. Even though it’s such a widespread genetic disease, I have spent much of my life explaining to teachers, classmates, friends and employers the implications the disease has on my big brother – who has sickle cell anemia, hemoglobin (Hgb) SS – and also on me, his healthy sister.
Sickle cell is an unpredictable disease. One typical complication of SCD is the frequent pain crises, also known as vaso-occlusive crisis (VOC). Pain crises occur when the red blood cells become stiff and cannot carry oxygen to the rest of the body. This results in blood vessel blockages that can cause extreme pain, often resulting in admission to the hospital. By the time my brother Marqus was in his early 20s, we were no strangers to unpredictable pain crises and frequent hospitalizations.
Sickle cell began to take a toll on me personally when Marqus developed seizures due to strokes. When Marqus was in elementary school, at the time of his first stroke, he reported to the school nurse that he was seeing black spots and suddenly forgetting how to spell. The school identified these as behavioral problems and never reported these symptoms to my parents so they could seek follow-up care. This caused irreversible damage to his brain, causing him to develop seizures as an adult. The seizures were a new challenge for my entire family. Marqus and I would be watching TV and all of a sudden, he would stop speaking to me, slump out of his chair and start shaking uncontrollably.
One of the most memorable seizures occurred when I was in high school. Leaves from a bonfire blew onto our neighbor’s house and caught fire. My mom and dad ran outside to help combat the flames. However, my mom has asthma, and two minutes into fighting the fire, she had an asthma attack. She was gasping for air as she crawled up our front stairs. Marqus and I quickly pulled her inside and searched for her inhaler. I began to call 911, but before I could dial, Marqus said in a faint voice, “Ashley, I think I’m going to have a…” and fell out of the chair and began to seize.
I dropped the phone and caught Marqus before he hit the ground. Mom signaled me to roll my seizing brother towards her. After I rolled Marqus to Mom, I carried a 70 pound oxygen machine down a flight of stairs to put on Mom’s face. Only then could I call 911... Marqus was hospitalized for five days and Mom refused admission in order to look after Marqus.
The next day, I went to school and explained to my teachers that Marqus had a seizure because of his disease. A teacher gave me a hug and said, “He looks fine, though. I’m sure he’ll be okay.” While my teachers were sympathetic about my brother’s disease, due to the lack of awareness and the “invisibility” of the disease, it was difficult for them to understand the severity of the situation.
While there have been significant strides made for SCD, more can be done to spread awareness about this disease and to find universal treatments that will improve the lives of the sickle cell community. I currently work at Children’s National Health System as a researcher in the Comprehensive Sickle Cell Disease Program. I see firsthand the new treatments and care that we provide to the sickle cell population. Thanks to preventive services like transcranial Doppler (TCD) to screen for the risk of strokes, our clinicians can alert high-risk stroke patients to lessen their chances of missed strokes. This all leads to a healthier adulthood.
That evening after Marqus’ seizure, I remember receiving a phone call from my dad who was at the hospital. I asked him if I could skip school the next day and go to the hospital with everyone else. He told me, “Ashley, you have a cheerleading competition soon. You have to go to school. Sickle cell doesn’t break us. It makes us who we are: resilient.”