LaChelle Hope’s parents did not know they both carried a genetic mutation that, if inherited, could cause their baby to be born with a serious condition called sickle cell disease. It was only after they had their first-born child — Hope’s older sister — that they found they both carry the trait.
Her sister was born and was found to have the sickle cell trait, which means she carried the mutation but it did not manifest into sickle cell disease. A baby has a 25 percent chance of being born with the disease if both parents have the trait. Luck was on the Hope family’s side and, based on the math, they thought it would remain this way.
“[My mom] was told it was a one in four chance. And she thought, ‘OK, well, I just won’t have four kids.’ Because she didn't know that meant every single child is a 25 percent chance,” Hope said. “And so then she had me.”
Hope is the family’s second child, and she was born with sickle cell disease.
“[My mom] always felt guilty for not knowing, for getting a slight warning, but not really understanding that warning,” Hope said.
Hope is one of approximately 100,000 patients in the U.S. living with sickle cell disease. It causes the blood cells to change from oval into the shape of a banana. This makes it harder for the blood to flow and potentially could cause strokes, tissue damage and organ failure. Many sickle cell disease patients describe chronic pain as being the soundtrack of their lives, with some having what is called “pain crises”— immense pain episodes happening as often as every few weeks and typically requiring care at the hospital with large doses of narcotics.
Sickle cell trait can be detected by doing a simple blood test but awareness around it is limited. Hope’s family is far from alone. Studies show that most people do not know their sickle cell trait status and some may be misinformed. Medical providers say there is a gap in knowledge that needs to be bridged by raising awareness about the importance of trait testing.
“Oftentimes, particularly in our families, they'll say things like, ‘Well, sickle cell does not run in our family.’ Well, how do you know, if you've never been tested for sickle cell trait? Right? How do you know if there are other variants of hemoglobin running [in] your family or not unless you get the test and the right test?” said Dr. Kim Smith-Whitley, a hematologist and the former director of the Comprehensive Sickle Cell Center at Children’s Hospital of Philadelphia.
Until 1986, newborns were not tested for sickle cell trait. That means there is a chance millennials and older adults may never get tested for it unless they actively seek to do so. Adults are not routinely tested for sickle cell disease. And the result is many African Americans are left unknowingly rolling the dice.
One in every 13 African American babies carry the sickle cell trait and one out of 365 have sickle cell disease, according to the U.S. Centers for Disease Control and Prevention. The disease mainly affects people of African descent and some of Hispanic descent because it is believed to be related to the prevalence of malaria in certain countries.
Hope and Smith-Whitely spoke on April 22 at the virtual 2022 Indiana Sickle Cell Disease Conference organized by The Martin Center Sickle Cell Initiative.
Smith-Whitely said empowering people with accurate information about their sickle cell trait status is imperative, but what they decide to do with that information is strictly personal.
Embarrassment prevents some from seeking care for painful symptoms
Trait awareness is not the only area where information is lagging.
When Demitrious Wyant was 15, he struggled to fall asleep — and if he did, he often woke up in the middle of the night, almost daily, with painful erections that persisted for hours.
Most times his erection outlasted his patience. Once, the erection lasted for 82 hours.
“I would try everything at home to make this thing go down. It was trial and error,” Wyant, now in his thirties, said during the conference.
Wyant has sickle cell disease. The regular painful erections that trapped blood in his penis and could numb it is called priapism — a manifestation that can occur in up to 40 percent of males with the disease.
At times he visited the emergency room every other day, waiting hours to be seen. But what prolonged his struggle weren’t these encounters, which he described as “very, very embarrassing,” but the lack of knowledge on his and the health care providers’ part.
Normally, red blood cells deliver oxygen to body organs. Then those blood cells carry byproducts back to the lungs to load up with oxygen again. This process is obstructed in some sickle cell disease patients. Blood gets trapped in organs like the penis because sickled blood cells tend to be more rigid and sticky, making it more difficult for them to flow through the vessels.
“And then that causes a lot of swelling and inflammation,” Smith-Whitely said. “And that's the vicious cycle that then prolongs this painful erection.”
If not addressed properly, priapism can cause penile damage, impotence and could affect patients’ fertility — in turn, affecting everything from patients’ social lives to intimate relationships and family planning.
“It definitely played a lot on my mental [health],” Wyant said. “I remember I was 25 and I didn't even care to live because as a young Black man, I have a lot of talent and I wasn't able to utilize my talents because I was always sick.”
As he spoke to the virtual audience, he sat in front of an elephant painting he made to symbolize his struggle — a peaceful-looking giant on the outside battling hidden struggles on the inside. Elephants run the risk of getting tusked by smugglers, and Wyant had similar sentiments with priapism and his reproductive organs.
“I didn't care to live,” he said. “I didn't have suicidal thoughts. But at the point of living and having any type of normalcy in life, I didn't see [it] for myself, and I hated life.”
And a big part of that was due to Wyant’s delay in seeking care.
“We didn't have no type of education,” he said. “The doctors that I was around, they didn't know anything about it.”
And that made his case worsen — what started as occasional priapism turned into a daily occurrence. He ended up having to undergo two major surgeries.
“I think that the reason that it's important for individuals with sickle cell disease to know about priapism is that often young boys and men delay getting medical attention for priapism because they're embarrassed by it,” Smith-Whitely said.
She said patients can do several things to minimize their priapism episodes, such as staying hydrated, taking over the counter pain relievers and timing their erections to know how long they last. She said if they last longer than an hour, patients should seek emergency medical care to avoid impotence and infertility.
‘We need to do a better job of telling people what we know and what we don't know’
Because sickle cell disease is a multi-system, complex disease, it could affect patients in a number of ways. Dr. Leena Nahata, a pediatric endocrinologist at Nationwide Children's Hospital who was not part of the virtual conference, points to a number of studies that show fertility may be negatively impacted by the disease itself and some of the treatments. For example, some studies have shown that sperm concentration may be affected in young men.
“It remains unclear how that translates directly to fertility outcomes, but at least raises the concern that this may be an issue,” Nahata said.
But even more concerning is that patients are largely unaware of these risks.
Nahata worked on a small study to measure this awareness gap among young male patients 14 to 21 years of age in her institution.
The researchers asked 20 patients and 15 caregivers if the patients are interested in having biological children at some point. Nearly 85 percent of the patients responded positively. But when asked questions to gauge their attitudes toward fertility testing and awareness about sickle cell disease’s potential impact on their fertility, most caregivers and patients were unaware, said Dr. Susan Creary, a pediatric hematologist at Nationwide Children's Hospital and co-author of the study.
“It really highlighted to myself that we need to do a better job of telling people what we know and what we don't know, so they can make more informed treatment decisions,” Creary said.
This story comes from a reporting collaboration that includes the Indianapolis Recorder and Side Effects Public Media — a public health news initiative based at WFYI. Follow Farah on Twitter: @Farah_Yousrym.