Sickle cell disease is an inherited red blood cell disorder that can cause debilitating pain and lead to lifelong complications. For years there have been limited improvements in awareness and treatment options, but that seems to be changing.
"My journey was kind of up and down like a roller coaster," said Kim Jones, a 52-year-old woman in New York who shared her experience with ABC News about living with sickle cell disease since she was 3 years old. "When I was younger, I would get a lot of painful crises, usually in the joints, wrists, ankles."
Jones became a second-grade teacher, but ultimately had to quit because her symptoms worsened due to the stressful demands of the job and what she felt was the lack of understanding and support from her school administration.
"There were days when I still went to work in so much pain. The doctor begged me to take days off and I couldn't, I was scared I would lose my job. I ended up leaving that school," she recalled.
MORE: Johnson & Johnson vaccine seems to stand up against delta variant, preliminary research suggestsHer experience with the disease has led her to advocate for sickle cell disease awareness and its scientific advancements.
September is Sickle Cell Awareness Month and Jones is sharing her experience so people become aware of the need to be screened, to raise the need for blood and bone marrow donors and to encourage the medical community to keep working on new medications and other treatments.
"In the past there has been very little support for people living with sickle disease, and minimal funding to research how to best treat it, at least in part due to racism in the medical system," Dr. Susanna A. Curtis, assistant director of the Montefiore Adult Sickle Cell Center and assistant professor at Albert Einstein College of Medicine, told ABC News.
But just last week, Curtis at Montefiore Medical Center received a five-year grant from the NIH to investigate the efficacy and safety of a drug called dronabinol, a THC-containing pill normally for nausea and vomiting, to see if it could treat chronic pain in adults living with sickle cell disease. This grant will also allow them to determine if dronabinol can reduce inflammation, which Curtis said "is known to play an important role in sickle disease."
Her research grant could determine if dronabinol could be added to the toolkit of sickle cell therapies, potentially improving the quality of life in patients with the disease.
Blood cells are normally round, but in people with sickle cell disease, they form into a C-shape, causing the cells to clump up, leading to severe pain.
Sickle cell disease affects millions of people worldwide, but disproportionately those of African descent.
Experts aren't sure exactly why people of African descent are more likely to inherit the disease, but it may be linked to the fact that the abnormally shaped blood cells from which the illness gets its name have one potentially small but unexpected benefit: protection from malaria, a blood-borne disease.
"Sickle cell trait is protective against the effects of malaria, so people who lived in high malaria areas are more likely to reproduce and pass on that trait," said Dr. Renee Crichlow, vice-chair of Health Equity at Boston University School of Medicine and chief medical officer of Codman Square Health Center. "So people with African ancestry are more likely to have the sickle trait."
It affects approximately 100,000 Americans and occurs in one out of every 365 Black or African-American births, according to the CDC.
The only cure for sickle cell disease is a bone marrow or stem cell transplant. This is a hospital based-procedure that takes healthy stem cells from a donor and puts them into someone's bone marrow, allowing the person to make new healthy cells. According to the NIH, the treatment has been successful in about 85 out of 100 children. However, it is a risky procedure that not a lot of people can tolerate. "It is only for patients with such severe disease," Crichlow said. "The treatment can be highly toxic, and as a result, there are very few of these transplants that are done."
Other treatment options vary for each person and depend on the symptoms. Treatments can include: receiving blood transfusions, staying hydrated and taking medications to help with the pain. Painful crises are often triggered by things like cold or dehydration, so part of managing the illness has to do with understanding those triggers.
MORE: Young adults dropping alcohol for marijuana and hallucinogens, survey finds"A person with sickle cell disease may need to take both chronic medications, like hydroxyurea, to help prevent crises, need occasional blood transfusions, and occasionally very heavy medications, including pain medications to treat the severe acute symptoms as a result of a sickle cell crisis," Crichlow said .
Kim has been taking hydroxyurea for the past five years. This drug, originally used for chemotherapy, was FDA-approved for sickle cell disease in adults in 1998 and then in 2017 for children. So as she grew up, there were limited amounts of innovations in sickle cell therapies. "I had to start realizing environments that would trigger a sickle cell crisis, like the weather, if it's too cold. I would get chills and have to not participate in certain activities," Jones said.
Thankfully, efforts are being made to change this. In 2020, Congress released a proclamation to highlight the need for research and treatment of sickle cell disease.
Experts also said more could be done by the public. One way to bring more attention to the disease -- and the need to find a cure for it -- is simply to normalize talking about it.
"There is a tremendous cloak of shame covering sickle cell disease," said Ginger Davis, the development and communication consultant for the Sickle Cell Thalassemia Patients Network.
The disorder can seem invisible to those who don't have it. And for people who have it, there is often the emotional challenge of trying to explain what is happening while going through a very physically painful and draining experience. This was something that personally affected Jones.
"I went to school and college without telling anybody," she said. "I was with a friend of mine and I got sick and she had no idea how to help me because I never told her I had sickle cell."
Since 2006, all newborns in the U.S. are screened for sickle cell at birth. However, everyone can and should be tested for sickle cell.
"If you were born before newborn testing began in 2006, you could ask your doctor for a simple blood test to determine if you carry the sickle-trait," Crichlow said. Continued research and public efforts towards the awareness treatment of sickle cell disease can benefit the thousands of people living with it.
Alexis E. Carrington, M.D. is an ABC News Medical Unit Associate Producer and a rising dermatology resident at George Washington University.