Real Stories from People Living with Sickle Cell Disease
“When I’m in that moment of pain in the emergency room, I can’t even think for myself. The pain is debilitating and they’re asking me questions like, ‘Are you sure you have sickle cell? We need to look into this,’” says Mimi, a 37-year-old lawyer and mom of four.
Mimi’s medical history is similar to that of many individuals with sickle cell disease (SCD): she has experienced severe pain since a young age, frequently sought care in the emergency department (ED), and has received numerous blood transfusions (when healthy blood is given to a patient through one of their blood vessels). But Mimi’s genetic (inherited) blood disorder comes as a surprise to many healthcare providers when they first meet her because of one detail: she’s not African American.
A commonly held myth about SCD is that it only affects individuals of African descent. Although SCD is most common among African Americans in the United States, it can also affect Hispanics, and people whose ancestors come from countries in South Asia (such as India), southern Europe (such as Greece and Italy), and the Middle East (such as Saudi Arabia and Lebanon).
SCD is a disease one is born with and is now a part of the newborn screening program for all states. But because Mimi was born before this program started in her state, she was not diagnosed until she was 5. Because of Mimi’s Arab American background, a sickle cell diagnosis did not occur to many of her healthcare providers. “I was about 3 years old when I started presenting with pain in my wrists and ankles. My parents would take me to the emergency room and the doctors would take an X-ray. They wouldn’t be able to find anything; they would just send me back home. My parents had psychologists telling them I was faking the pain,” recalls Mimi. It wasn’t until one particular doctor requested a blood test that her family discovered she has SCD.
Throughout her life, healthcare providers have doubted Mimi when she told them she had SCD. This has caused delays in Mimi getting the treatment she needs. “I’ll have to wait for the blood work to come back for them to help me with anything. I’ll have to wait several hours in the emergency room for any sort of pain relief,” says Mimi.
Like many individuals with SCD, Mimi’s pain has been dismissed in the ED several times. “This has happened as recently as the last 2 years, where they’re extremely dismissive. And I have to explain to them step by step what’s going on, what I need. I just need some pain relief. They may give me a little bit, but they send me home,” she says.
What is going through Mimi’s mind during these frustrating experiences? “It’s just the pain. Like please make it stop. There is nothing else you can think about except, please make it stop, please hurry. I’ve been in tears; I would be crying and waiting. I remember a nurse many, many years ago who told me, ‘Relax, it’s not that much of a big deal.’ That is extremely frustrating,” says Mimi.
Although Mimi has had negative experiences seeking health care for her SCD, she’s also had some great experiences. “I’ve had some amazing providers, some absolutely wonderful doctors and nurses who know my history. My hematologist (a blood disorder specialist) here in Atlanta told me, ‘You just come in and we will see you immediately.’” During her time living in Sydney, Australia, Mimi had a hematologist who was always on standby along with his team ready to take her in during an SCD-related health issue.
While Mimi has been through many challenges as someone with SCD, she says her condition has only encouraged her to be “grateful for every minute.” Growing up, she loved to be active in extracurricular activities at school including ballet, jazz, and swimming, but would often have to miss practices and performances when she ended up in the hospital for pain or other SCD-related health issues. “I hated being in the hospital as a child. I’d be so grateful when I came out. Just be thankful for every moment that you have.”
Mimi credits her motivation in life and her career to having missed out on so much as a child because of her condition. Originally from Atlanta, Georgia, Mimi moved to Sydney, Australia for school because she felt it would be a fun experience. She ended up starting a family there, which includes her four children, and living in Sydney for 18 years.
These days, Mimi is back in Atlanta with her family and getting ready to take the bar exam (a test every lawyer has to pass before becoming licensed to practice law) in February 2020. After passing the bar, she looks forward to practicing family law. “People always say to me, ‘Just relax, take it easy.’ I can’t, I just can’t. I have to follow the next thing,” Mimi says with a laugh.
What is Mimi’s advice for others with SCD?
- Develop a relationship with your doctor. “If you don’t have a great relationship with your doctor, move on to someone with whom you can because they will be the person who really has their eye out for you.”
- Build a strong support system. “Make sure you have parents, friends, family members, a spouse, whoever. I wasn’t too upset that I didn’t have a community support system as a child because I had a phenomenal one at home.”
- Ask for help. “Pick up the phone and say, ‘Please help me out.’ Don’t be afraid to ask for help right away when you need it. Don’t be afraid to tell people exactly how bad it is.”
Mimi hopes for better knowledge of and care for people with SCD. “Rapid intervention makes all the difference. Knowing that just because I look a certain way doesn’t mean that I’m not in the same amount of pain. I would like to see change from the bottom up; I’ve had issues all along at all levels,” she says.
Mimi’s story shows how important it is for healthcare providers, community workers, policy makers, and other supporters of SCD to know that SCD affects diverse groups so that all people with SCD can receive timely treatment for SCD.
CDC would like to thank Mimi for sharing her story.
Rae Blaylark is the founder and Executive Director of the Sickle Cell Foundation of Minnesota; a certified community health worker; a certified hemoglobinopathy (red blood cell disorders) counselor; and the sickle cell patient family health advocate at the local children’s hospital, but her first and most important role is as a mother of a young adult living with sickle cell disease (SCD).
Knowledge about SCD
Rae’s son, Treyvon, was born in 1996. At 2 weeks of age, he was identified with SCD through a newborn screening program in Minnesota. Rae was shocked; she didn’t know a thing about SCD. Although Rae was diagnosed with sickle cell trait (SCT) in high school, the nurses never explained to her what SCT was, how it affected her body, or how it could affect her family planning in the future.
Resources about SCD
Surprised and overwhelmed with her son’s diagnosis, Rae did her best to learn about the condition and found ways to manage her son’s care. “As a young person with my first child and as a single mother, the only people who I had to go to [for education] were the people charged with treating my son, and that was his hematology team (medical team that specializes in blood and blood disorders). My family had very little knowledge of SCD, so I couldn’t go to my family about it.”
At the time, Rae knew of no community-based organizations where she could learn more about SCD and find support within her local community. In 2004, Rae attended an event in St. Paul, Minnesota commemorating the release of the SCD postage stamp by the United States Postal Service. This was the first time she and her son were surrounded by providers, SCD advocates, and other families impacted by SCD. At this event, she met a young man in his early 30s living with SCD, who gave her and her son hope for the future. “I finally met a man who was on track to be older than the age they [doctors] gave me for how long my son would live. When he talked to us, he didn’t talk to us from a sense of hopelessness. He talked to us about living life, enjoying life, and the reality that we would have challenges, but how we view those challenges could not take away from the life that we were still meant to live. It was a level of hope that I had not allowed myself to have up to that point. Up until then, all I thought about was that SCD was a disease that was going to kill my child, and it was devastating. That encounter changed the course of my life and my son’s life. I truly believe that my son is still alive because of that conversation.”
Looking back, she realizes that the lack of community resources and support left her and Treyvon feeling isolated, making it difficult to learn more about SCD. This motivated her to get active in her community, and it led to her current roles in which she empowers and supports other families with SCD.
Challenges/Impact on Caregivers
The first few years of Treyvon’s life were a whirlwind–overwhelming and stressful–but Rae dove in, focusing on his health. “I put my goals on the back burner so I could be present with Treyvon in his pain. I was still learning about the disease while I was expected to be a knowledgeable caregiver who is expected to provide solutions, and I chose, because I was a single mother, to stop pursuing my own career goals for a period of time to focus on him.” Despite being college educated, Rae chose entry-level, part-time jobs once Treyvon started school because these jobs provided more flexibility to pick him up when he needed her.
“There were many moments, particularly in the first several years, that I felt at the brink of a breakdown because of the emotional, psychological burden of caring for a child with special needs.” Early on, she made an intentional decision to not have any more children. “For me, I couldn’t wrap my head around how I could provide the same level of love, attention, time, and effort to additional children knowing that I have a child who will likely take up more of my time.”
Rae had her family to lean on for support, but sometimes it was hard for Rae to ask for help. “I felt some sort of guilt asking for help because this is my only child, and I chose to have him. I felt it was unfair to put undue burden on others in my family.” Still, her family was always willing to come by and help watch Treyvon, giving her some time to catch up on sleep or to run errands.
When Treyvon was young, Rae chose not to date to avoid burdening a partner. It was hard to get into a serious relationship knowing that a partner and her son would have to share her. Eventually, Rae met her now husband and married when Treyvon was about 14 years old. Her husband has been a source of comfort and emotional support for Rae, and even after more than 10 years together, he is continuously learning about what it means to support a caregiver and a loved one with SCD.
“One of the things I needed to do as he became an adult was to be a partner in his care,” said Rae. She helped prepare Treyvon to take responsibility for his own health care, a process known as transition, but emotionally, it was still hard for Rae to fully let go.
“You have to come to terms with the fact that your child is not perfect. There are things, in your opinion, that they will fail at. I picked and chose my battles. I’ve made mistakes and, at times, fractured our parent-child relationship, and as a result, I’ve had to look at my fears–my fear of losing him–and how that may impact my approach with him.”
Today, Treyvon and Rae continue to be partners in his care. They live in a duplex, with Treyvon living independently on one side of the home. He works two full-time jobs, working as a caregiver and as a supervisor in two different group homes for adults with mental illnesses.
Tips for Others
Rae offers the following tips for caregivers of a child with sickle cell disease:
- Find something that grounds you and gives you hope. For Rae, her faith kept her grounded. “It is through faith that even during the dark days–during the visits to the intensive care unit and the encounters with less-than-compassionate providers–faith has given me the ability to see the bigger picture.”
- Don’t put your child in a bubble. Encourage them to remain engaged in school, and work with the school to ensure receipt of accommodations so that your child can get the education that they need and deserve.
- Find someone to talk to, even if it’s not a therapist. Find someone in your community who can provide you support–a church group, a friend or family member, or neighbor.
- Transition is not a one-time event. It’s a continuum, a process. Educate yourself by asking questions, visit other facilities, speak with other families who have gone through transition or who are also going through it, and use a collaborative team approach. Don’t feel like you have to do this alone.
CDC would like to thank Rae for sharing her story.
Shantá and her husband Derek are the parents of three sons, two of whom have sickle beta thalassemia +, a type of sickle cell disease: their 21-year-old son Khari and their 19-year-old son Mikaili. Their oldest son, Ryan, is 31 years old and Shantá’s son from a previous marriage; he does not have sickle cell disease.
“When my first son was diagnosed, I had the most naïve reaction. But with my second son, we knew it was a possibility,” said Shantá. “My husband’s brother had sickle cell disease, so we knew he had the trait. I had thalassemia minor and never had any problems growing up. It never occurred to us that our kids would have sickle cell disease. It was a surprise. I got a letter from the state saying my child has sickle cell disease. I read the information – that scares you. As a mom, I went through every emotion. I wanted the best for my baby. I wanted to learn what to do to make sure my child has the best care, is managed well, and how to protect my children.”
“My husband and I never considered genetic counseling,” she continued. “It didn’t occur to us. We thought we should be good. At most, we thought our kids might have sickle cell trait. In hindsight, we should have had more conversation around that. We should have found out what type of sickle cell disease my husband’s brother had and I should have looked at my own family history as well. But regardless, we are in a space of total gratitude for having our children. This information would not have changed our decision to have children together.”
Sickle Cell Disease Resources
Shantá first learned her children had sickle cell disease from state newborn screening results. At the time, most of the available information and resources about sickle cell disease was in hard copy form. She found information on genotypes, management and care, the importance of seeing a hematologist, vaccination information and the importance of starting penicillin early, as well as information on the importance of breastfeeding to build health-protecting immunities. While Shantá found these resources helpful, what was most helpful was having access to the expertise provided by her child’s hematologist, Dr. Keith Hoots, and the stakeholder (interested groups) community.
“My husband was working at a comprehensive treatment center in Houston and I was working in marketing at Baxter. I was fortunate to know many hematologists who are top notch in sickle cell disease management. They let me know that sickle cell disease is manageable, and gave us hope. They taught us what penicillin meant to disease care, as well as the importance of treatment compliance, hydration, and a healthy diet, which helped us develop good habits early on.”
When they moved to Maryland, Shantá and her family also found support from the sickle cell community by getting connected to, and taking part in, activities sponsored by the Sickle Cell Disease Association of America (SCDAA). In 2006, Shantá and her husband co-founded their very own community-based organization, the Maryland Sickle Cell Disease Association (MSCDA), and began providing services to help and support other families like them.
Staying Healthy in School
To help her kids stay healthy in school and to make sure that appropriate care would be available, if and when needed, Shantá asked the school principal to hold an in-service with teachers, coaches, and nurses. She worked with nurses at Johns Hopkins University, who came to the school and educated staff about sickle cell disease, including why hydration is so important, why pain complaints should be taken seriously, and what to do if your child has a fever.
Transition is the process of young people learning to become more responsible for their health, including transferring their health care to an adult healthcare provider. The biggest concerns Shantá had regarding transition were around the loss of control over her sons’ treatment compliance and health choices. When her children were young, Shantá would cook for the family, making sure they got what they needed. For example, she would cook with turmeric and other spices to reduce inflammation (swelling). But when they grew older and more independent, she often wondered whether her kids were taking their medications and getting enough rest and proper nutrition.
According to Shantá, “For the person transitioning, it’s a big move. They need help with this. Parents can benefit from information on how to handle this change.”
To help with this in her own family, she would check in with her sons to make sure they were doing what they needed to be doing (such as taking their medication) and issue helpful reminders. For example, she would remind them of upcoming doctor appointments, as well as remind them, about a week before their medications were due to run out, that they would need to call the pharmacy to request a refill.
Challenges/Impact on Caregivers
When asked how sickle cell disease has impacted her family’s life, Shantá said, “Sickle cell has been a part of our lives, part of our family dynamic and norm for so long. The demands of sickle cell disease are unpredictable. I’ve had to get comfortable with that in terms of the plans we make (for example, vacation, events). Planning a vacation without travel insurance is not an option for us.”
The most difficult thing for Shantá was the challenge of caring for two children with sickle cell disease who required very different approaches to care and management due to how the disease uniquely affected each child. Her youngest child, Mikaili, had more issues with pain crises, and eventually had to have surgery for avascular necrosis (bone tissue death). Her middle child, Khari, has only had one crisis to date, which was due to lack of adequate hydration during a basketball practice, but has experienced retinopathy issues (eye damage). Shantá handled these difficulties with grace by prioritizing “what needed to be done at that moment,” by “not taking too big of a bite,” and by “taking challenge by challenge – one thing at a time”.
Shantá acknowledges, however, that this has not always been an easy task, and that sickle cell has had a profound impact on her family’s life. Our faith in God is core to everything we do. Practicing our faith keeps us grounded and focused on managing the current challenge.
“Sickle cell has had an impact on every aspect of our lives. Our work life, our personal life, we even socialize in the arena of sickle cell disease if some [sickle cell] events are being held. Now that my boys are young men creating their own lives, I am working on defining my life and maintaining a healthy balance.
In many ways, though, sickle cell has had a positive influence in their lives. “It has made us a well-connected family. It’s made us closer. When something happens, we have an unspoken, informal process of sharing information with each other, and we work together.”
Shantá and her husband are very involved in the sickle cell community. They do a lot through MSCDA, and have recently helped develop Maryland state guidelines (recommendations) for the management of sickle cell disease in schools. They are also working with major teaching institutions in their area to connect people to specialty providers. In addition, they connect people to resources, hold an annual patient and provider conference to discuss relevant sickle cell topics like eye care and the Cure Initiative, and have formed grass roots support groups. According to Shantá, “The future of sickle cell disease is extremely bright. It’s motivating to see how much is being addressed on different fronts and among different stakeholder groups. By continuing to work very closely together as a sickle cell disease stakeholder consortia, we can get even more done.”
Tips for Others
Shantá offers the following tips for other caregivers and family members of someone with sickle cell disease:
- Arm yourself with knowledge and education about sickle cell disease on every level that you can. Position yourself as an expert.
- Connect with the medical, research, and sickle cell community-based organizations and become involved.
- Take care of yourself. If you wear yourself down, you will not be there for the ones you love the most. You won’t be able to give them the care they need.
Where Are They Now
Shantá’s oldest son, Ryan, is a young professional living and working in Seattle. Her middle son, Khari, is an undergraduate studying theatre and acting at Towson University in Towson, Maryland. And her youngest son, Mikaili, is an undergraduate student studying clinical psychology, with an interest in sports psychology, at Hood College in Frederick, Maryland.
CDC would like to thank Shantá for sharing her story.
Lance Jasper Jones is 31 years old, is engaged to be married, is in graduate school pursuing a master’s degree in clinical psychology, and is a talented musician and music producer. He is also living with sickle cell disease.
In 1990, Lance was diagnosed with sickle cell SS, or sickle cell anemia, the most severe form of the disease. He was only 2 years old. Since birth, Lance has experienced chronic pain; as an infant, he cried all the time. While hospitalized for what appeared to be a broken finger, doctors ran some blood tests; the results showed that Lance had sickle cell disease. The news came as a total surprise. Lance was the youngest of three children. His sister, the oldest of the three siblings, did not have sickle cell disease or the trait for sickle cell disease. His brother had the sickle cell trait, but did not have any signs or symptoms of the disease, so no one even knew he had the trait until Lance was diagnosed.
Throughout his life, Lance has had numerous health complications from sickle cell disease. He has been hospitalized more times than he can count. The doctors did not expect him to live into adulthood. In middle school, Lance developed avascular necrosis (AVN), and was confined to a wheelchair for 2 years. AVN is a painful condition in which there is a loss of blood and oxygen to the bone, causing tissue in the joints to die. As a result of this complication, Lance will need to have a hip replacement before his 32nd birthday. By age 22, Lance has already suffered two lung failures.
Challenges/Impact on the Family
According to Lance, no one in his family knew anything about sickle cell when he was diagnosed, and it had a devastating impact on his family. “The news altered my family dynamic in a major way. My mom, a nurse at the time, lost her job because she needed to stay home and take care of me. Her career goals were gone. My parents also had a separation period because of the hardships.” Having sickle cell disease also impacted Lance’s relationship with his siblings. “Every time I got sick and had to go to the hospital, they [my sister and brother] went to our grandmother’s house. To them, I received special treatment because I needed it and they got less time and attention from my parents. To me, my parent’s focus was always on keeping me healthy, not on my goals and dreams. My parents always saw me as the sick child. But with my siblings, they let them spread their wings.”
Getting Educated About Sickle Cell Disease
Lance’s mother did her research and got connected to doctors at Long Beach Memorial Medical Center. The biggest thing she had to learn, according to Lance, “was how to read the panel sheet–things like hemoglobin levels, iron levels, organ function.” Learning about sickle cell medications and how to administer them was also a high priority. This was especially important because Lance was one of the first sickle cell patients to take hydroxyurea, a drug that reduces pain crises in patients with severe sickle cell disease. In addition, due to a build-up of extra iron in his body (called iron overload) caused by monthly blood transfusions, Lance had to take a medication called Desferal at home that required an IV, which his mother taught him to use early on.
When asked how his parents’ role as caregivers changed as he grew older, Lance replied, “Their role didn’t change, I changed. As I got older, I became more knowledgeable and began to take my life and health into my own hands. I made my own doctor’s appointments, and my mom taught me to fill out paperwork and order my medications. I was prepared to read the paperwork and talk to the doctors.”
Finding Support & Giving Back to the Community
According to Lance, the biggest way that his mom supported him in school was to make sure he was able to get the necessary accommodations and time needed to make up assignments due to missed days at school. She even arranged for tutors to come to his room when he was admitted to the hospital. Outside of school, his parents got involved in walk-a-thons and donated money for sickle cell disease research.
Lance is extremely involved in the sickle cell disease community. He is a volunteer for the Sickle Cell Disease Foundation of California and a mentor for SC Crew, a program that helps youth with sickle cell disease navigate their teen years. As a mentor, Lance helps teens with sickle cell disease with things like getting their driver’s license, completing college applications, applying for scholarships, and transitioning from pediatric to adult care. Lance was also involved with the passage of Assembly Bill Number 1105external icon, recent legislation to establish a network of five sickle cell disease clinics to provide comprehensive care to adults with sickle cell disease by shifting $15 million from the state’s General Fund budget to California’s Department of Public Health. “Passage of this $15 million dollar bill is a dream come true! And this is a model that can be taken across the country,” Lance said.
Tips for Others
Lance offers the following tips for those with sickle cell disease:
- Be aware of all the signs. Pay attention at all times. With sickle cell, there are a lot of complications. You could be having a silent stroke and not even know it’s happening.
- Do your research and know what you are dealing with.
- Do not look at your condition as a death sentence. Have goals and make plans. Do not let go of your dreams and do not let limitations keep you from doing what you want to do. Sickle cell should not control what you do; it’s just something you live with.
CDC would like to thank Lance for sharing his story.
When both parents have sickle cell trait (SCT), there is a 1 in 4 chance that each of their children will have sickle cell disease (SCD). For Fatimah’s mother and father, who both have SCT, their first daughter (Fatimah’s older sister) was born with SCD; 7 years later, Fatimah was also born with SCD. “I don’t think they were expecting both kids to have SCD. I know it’s hard on them because they feel bad that we have the condition,” said Fatimah, a college senior at the University of Illinois, Urbana-Champaign.
Although both Fatimah and her older sister have SCD, the disease (illness) affects them differently. “My sister would get pain crises (acute episodes of pain) every now and then, but it’s really me who has the real issues with SCD. For me, I would be in and out of hospitals all the time. I had really bad pain crises, and I would get really bad headaches and pain in my stomach. I get sick a lot,” said Fatimah.
When Fatimah was around 7 years old, she experienced a terrible pain crisis. Her parents gave her medicine, but she wasn’t responding to the medication. Her pain and health continued to worsen. They took her to the emergency department (ED) for treatment. While in the ED, her heart rate dropped, and doctors treated her to bring her heart rate back to normal. “When I woke up in the morning, I needed to go to the bathroom. When I got up, the whole right side of my body gave out; I just collapsed on the floor.” At 7 years old, Fatimah had suffered a stroke, and she was in the hospital for several months. “Somehow, by some miracle, I regained everything. Looking at me now, you wouldn’t know that I had a stroke,” said Fatimah.
For Fatimah, frequent visits to the hospital and ED was a part of her childhood. Growing up, she didn’t realize that other people didn’t experience the same health problems she did. “In high school, I learned that everyone doesn’t get sick the way I do.” The hardest part about growing up was coming to terms with the fact that sometimes it was harder for her to engage in certain activities, like cheerleading, compared to her friends. “My parents always told me to take a break [when cheerleading] if I ever got tired, but I would try to push through it unless it got to the point that I really couldn’t anymore. If it got to that point, then I would let my team and coach know.”
Despite the health challenges she faced, Fatimah never wanted her SCD to influence who she was and what she could achieve. “I want to showcase the fact that you can have SCD but can also do everything else. My older sister is studying to be a doctor because of me. She is studying hematology and doing sickle cell research. She told me she met a patient one day in her clinical rotations, and the patient, who also has SCD, was surprised my sister was going to school and becoming a doctor. She told me the patient was asking her, ‘you’re going to school? You’re going to be a doctor? How do you manage (take care of) it?’ The way my sister described it, the girl was so interested in knowing because she puts so much work into her health that she didn’t know it could be possible to also do other things, too. I don’t think that having a medical condition should keep her from doing what she wants. It’s just one obstacle you have to face, but you don’t have to stop everything you’re doing,” said Fatimah.
When Fatimah was in her junior year of college, she decided to study abroad in Milan, Italy, despite her parents’ concerns. She was interested in fashion and modeling, and she wanted to take the opportunity to explore Milan, a fashion capital, and absorb the rich culture the city had to offer. “My parents were worried about finding a doctor in Italy and how I was going to stay healthy, but I could figure that stuff out. Why miss out on an opportunity to live in another country?” Once in Italy, Fatimah was able to find a doctor, but she admits it was challenging to receive care away from home. “It was the first time I went to a doctor by myself, and it was in a different country, too. They didn’t speak English. I was scared. I was comparing myself, thinking about how my friends don’t have to worry about finding a doctor and going to a hospital. I had to be up at 4am to be on the train and be at the hospital for my appointment.” Despite the challenges she faced abroad, Fatimah doesn’t regret her decision to spend a semester in Italy. She kept her spirits up by putting her healthcare needs into perspective. “I have to do these extra things to stay healthy, but at the same time, it’s that little sacrifice. It’s just one day out of the month, and I don’t have to let it impact the other days.”
Fatimah is expected to graduate as a finance major in May 2019. She has already accepted a full-time job at JP Morgan Chase, which she will begin after graduation, but she plans to continue pursuing her dreams in travel, blogging, and fashion as well. Fatimah wants to encourage other people like her who are living with SCD to know that they can live a full life. “We can still achieve whatever we want to do, whatever we put our minds to. Yeah, you have to deal with something that not everybody has to, but at the end of the day, you’re still here, and you’re still healthy for the most part. So if you’re able to go through your day, then know that it’s one thing you have to deal with, but don’t let it be everything and the deciding factor for you.”
CDC would like to thank Fatimah for sharing her story.
“When I have patients, I tell them that people with sickle cell trait (SCT) can have a normal lifespan and that the great majority of people will not have problems. But, occasionally, there are problems. Blood in the urine can happen from kidney damage, or in rare cases, it can be caused by a tumor,” says Dr. Ofelia Alvarez, a pediatric hematologist and professor of clinical pediatrics at the University of Miami’s Miller School of Medicine.
Dr. Alvarez directs the University’s Sickle Cell Program and leads the Newborn Screening Program for hemoglobinopathies in Miami-Dade and Monroe Counties in Florida. Dr. Alvarez primarily provides care for patients with sickle cell disease (SCD) but sometimes will see patients with SCT.
People with SCD are born with two sickle cell genes, but people with SCT are born with one normal gene and one sickle cell gene. The great majority of people with SCT will not experience pain crises or other symptoms of SCD. However, in very extreme conditions, such as in high altitudes or when dehydrated, people with SCT can experience shortness of breath, pain crises, and other health problems related to SCD. In very few cases, SCT and SCD have been linked to a rare kidney cancer known as renal medullary carcinoma (RMC)external icon. Most reported cases of RMC have occurred in people with SCT, but very rarely, cases of RMC have also been reported in people with SCD.
In 2014, Dr. Alvarez became interested in learning more about RMC and SCT. RMC arises from the lining of the inside of the kidney. “If you think about a kidney as a bean shape with a stem coming out, the tumor will form around the inside of the stem,” says Dr. Alvarez. RMC is an extremely rare and aggressive type of cancerexternal icon, and information on RMC is still limited. Researchers have found that most reported cases of RMC occur in young black adults living with SCT, but researchers do not yet know why some people with SCT will develop RMC and why some people with SCT may not.
Researchers and clinicians are working to learn more about the link between RMC and SCT through research and clinical trials, but it’s been challenging because the cancer is very rare. Although some progress has been made, there is still a lot to learn about RMC and SCT. More research and knowledge on the cancer can help inform best methods to treat it and hopefully find ways to prevent this rare but serious cancer. “Clinical trials are important. Clinical trials of therapies for RMC will not only provide more knowledge about the disease but can also benefit patients by showing us what works and what doesn’t work so that we can offer better treatment options moving forward,” says Dr. Alvarez.
In addition to research, Dr. Alvarez stresses the importance of raising awareness of RMC and its link to SCT. “We know it’s a very aggressive tumor. It has a high fatality (death) rate, and one problem is that over 90 percent of patients present with the cancer in its late, advanced stage,” says Dr. Alvarez. “Patients have better outcomes when the tumor is found in its early stages.”
Awareness of RMC and SCT can help people to know to seek medical attention if they notice symptoms of RMC, such as blood in the urine or abdominal pain. “Unfortunately, because RMC is very rare, screenings are not recommended. Awareness is the focus. When people come to me with SCT, I always tell them that if they have bloody urine then they should seek medical advice. Not all bloody urine from someone with SCT or SCD means there is cancer, but they should still seek medical advice. That’s something we, as clinicians, need to communicate to people,” says Dr. Alvarez.
Seek additional resources and support:
- RMCSupport.orgexternal icon
- Read Ritchie Johnson’s personal story about her son, Chris’ battle with RMC, and visit the orgexternal icon founded in honor of Chris.
- Read Dr. Alvarez’s paper on RMCexternal icon. For questions about RMC and SCT, you can reach Dr. Alvarez at firstname.lastname@example.org
CDC thanks Dr. Ofelia Alvarez for sharing her story.
“I knew there were a lot of things I could do to help myself stay healthy. I didn’t want to end up in the hospital and miss class,” said Mikeia Green about her experience managing sickle cell disease (SCD) in college. She was born with SCD, which is an inherited blood disease, which means it can run in families. SCD causes abnormal, “sickle” shaped red blood cells that stick together and block blood flow in the body, limiting the amount of oxygen reaching the body’s organs. People with SCD can have frequent pain (when it’s severe, it is called a pain crisis), infection, and other health problems. Today, Mikeia, 23, is a recent college graduate working at a psychiatric office in California.
Growing up, Mikeia’s mother took care of her so as to keep her healthy with SCD. She took Mikeia to every doctor’s appointment, created an emergency plan, and watched for Mikeia’s “triggers.” These “triggers,” such as stress, dehydration, and extreme temperatures, can lead to mild to severe pain crises. “She knew me very well. She paid attention to my triggers – managing stress, drinking enough water, and making sure I didn’t overexert myself.”
When Mikeia left her home in Arizona to attend college in California, it was the first time she was away from her mother. “That’s when I had to learn how to speak up for myself and learn how to make appointments by myself. I had to schedule doctor appointments between classes and figure out which friends I wanted to tell about my illness, in case something happened, and to whom I wanted to give my mom’s phone number if I didn’t feel good. I had to have a conversation about sickle cell with my residential advisor (RA), and I also had to reach out to the student wellness center because they offer certain services for students with disabilities.”
Mikeia reached out to the Sickle Cell Disease Foundation in California (SCDFC)external icon for support and resources to help her find a doctor. She also connected with a social worker from the Children’s Hospital of Los Angeles to help her transition from her previous pediatric care to an adult care specialist.
While in college, Mikeia never let her SCD condition limit what she could accomplish. She was involved in a variety of service and cultural organizations, tutored students, held a work-study job, and made time for the gym to stay healthy. “I had to learn how to be responsible in terms of my education and learn how to be responsible for my health.”
During Mikeia’s four years in college, she sometimes experienced pain, but the only episode of a severe pain crisis happened during her freshman year. Fortunately, Mikeia did not have to visit the emergency departmentpdf icon. She talked to her RA and sought help to manage the episode in her dorm room.
Mikeia recommends that students with SCD find what services are available to them on campus. “There are always some type of wellness or disability resources available,” said Mikeia. She got a single-occupancy room for four years, was able to choose her classes early, and was given opportunities to make up exams she missed when pain or other health problems made it difficult to concentrate. These accommodations helped her to manage her condition while being a typical college student.
When asked to share advice for students with SCD, Mikeia said, “Don’t ever look at your disease as a hindrance. You are more than capable of going to college and being successful. You just have to know yourself and pay attention to your health because you won’t be able to do that unless you’re at your best – health-wise.”
For more information on SCD, visit www.cdc.gov/ncbddd/sicklecell.
CDC would like to thank Mikeia for sharing her story.
“When you lose your child, it’s real. It’s been 5 years for me. People will tell you time will heal, but it doesn’t really heal. You just learn how to cope,” said Ritchie Johnson on the loss of her son, Chris, to a rare kidney cancer linked to sickle cell trait (SCT).
Chris was born with SCT, a genetic condition that occurs when a child inherits one sickle cell gene and one normal gene from the parents. When two sickle cell genes are inherited, the child is born with sickle cell disease (SCD), which can cause pain, acute chest syndrome, stroke, and other serious health problems. SCT is often seen as a less dangerous condition compared to SCD because people with SCT often do not experience the painful and life-threatening symptoms of SCD.
After a newborn screening revealed Chris had SCT, the hospital provided little information on the condition. “I was told that SCT was nothing to worry about and that you could live a long, normal, and healthy life without any problems,” said Ritchie.
Chris had an active childhood and played sports. He earned a football scholarship from the University of New Mexico. SCT never limited his lifestyle.
At the age of 38, Chris saw blood in his urine. At the emergency room, a CT scan found a tumor in his right kidney. Chris was diagnosed with an extremely rare form of kidney cancer known as renal medullary carcinoma (RMC). Common symptoms of kidney cancer include pain in the lower back, blood in the urine, and weight loss.
RMC has been linked to SCT. RMC is aggressive and typically leads to death. It’s especially difficult to treat because of limited awareness and research on the disease. There is no medicine available for RMC. At the time of Chris’ diagnosis in 2011, there were no clinical trials (research studies that explore whether a medical strategy, treatment, or device is safe and effective for humans).
Chris and Ritchie were shocked. Before the diagnosis, Chris had lower back pain that continued for several years. He visited a primary care physician, a chiropractor (a doctor who specializes in diagnosing and treating disorders of the musculoskeletal and nervous system, especially in the spine), and even received physical therapy for the pain, but it never went away. Chris thought the pain was a football-related injury received in college or from a previous car crash. He never expected the pain to be a symptom of a kidney cancer linked to SCT. Even his healthcare providers never considered his pain to be linked to SCT or kidney cancer.
By the time Chris was diagnosed, the cancer was stage 4. Chris needed medical treatment immediately.
At the hospital, Chris was treated with chemotherapy and additional cancer treatments often used to treat other types of kidney cancer. Treatment was expensive, and at one point, hospital bills reached more than half a million dollars. Chris fought the cancer for one year until his body became de-sensitized to the treatments and rejected chemotherapy. “The cancer went through his body like wildfire,” said Ritchie. Chris passed away 3 months later in the fall of 2012.
In honor of Chris, Ritchie founded the Chris “CJ” Johnson Foundation in 2013. While Chris received treatment, he understood the need for awareness and information on kidney cancers, especially RMC and its link to SCT. The Foundation raises awareness and donates funds to advance RMC research, and it provides education and support to families battling RMC. Some progress has been made, including two clinical trials on RMC that help to better understand the condition. However, more awareness is needed.
“We’re working with pediatricians in the Houston area to have them look out for certain symptoms when a child is diagnosed with SCT. We’re not trying to scare anyone, but we want people to be aware of any possible symptoms that might be associated with RMC. Awareness is extremely important. We need to get the word out about RMC, and not just in the United States, because we have patients all over. We need to get this information out globally so that we can make a difference, and one day, hopefully, find a cure for RMC,” said Ritchie.
Although the pain of losing a child never goes away, Ritchie finds peace by helping others understand and cope with a devastating diagnosis. “The main thing is staying positive and not giving up. Even though my son was 39 years old when he passed, it’s still scary. People can reach out to us (the Foundation) for emotional support or whatever they need. They need someone to talk to during this time. Think positively and don’t give up. Stand strong and fight it,” said Ritchie.
Learn more about kidney cancer hereexternal icon.
Find more information and resources on SCD and SCT here.
CDC would like to thank Ritchie Johnson for sharing her story.
Living with sickle cell can be challenging and unpredictable, but I believe it makes us some of the strongest people on earth.
The type of sickle cell disease (SCD) that I have is called hemoglobin S/beta(+)-thalassemia (also called sickle beta-thalassemia or HbS beta-thalassemia). Although it is a milder type of SCD, I still have pain episodes and other health issues. When I have a pain crisis, it can occur at any moment. It’s unpredictable. I can literally just start hurting all of a sudden. The only way I can describe a pain crisis is to compare it to a migraine headache, but it’s 10 times worse and located in the joints. I have gotten up in the morning feeling fine, driven to work, and could not get out of the car because of a pain crisis. The pain can be that sudden. I try to do things to avoid going into a crisis, but I cannot always prevent it from happening.
Certain things can help manage pain crises, such as staying hydrated, staying warm in the winter, staying cool in the summer, trying to avoid colds and infections by getting flu and pneumonia shots every year, and of course, taking my medicines and listening to my doctors.
It can be very frustrating to have a pain crisis, go to the emergency department, and not be believed or treated as a priority because I am not ‘behaving’ like I am in pain. My biggest fear is having a stroke.
My son has beta-thalassemia intermedia, also known as Cooley’s anemia. In Cooley’s anemia, the red blood cells have too little of the hemoglobin protein to adequately transport oxygen throughout the body, and the red blood cells don’t live as long. He does not experience pain crises, but he does need regular blood transfusions. Since the age of 4, he has been transfused every 5 to 8 weeks. Signs and symptoms related to Cooley’s anemia include fatigue, headache, difficulty concentrating, reduced ability to exercise, and slow physical growth. He is short, looks young for his age, and he has an individualized education program at school. He has had a splenectomy (a surgical procedure to remove the spleen), which means he has a greater risk of infection, so he takes penicillin every day. Believe it or not, it is easier for him to tell his friends that he has sickle cell rather than trying to explain his disease.
The transfusions can be overwhelming at times. Before each transfusion, there has to be a type and crossmatch done (two blood tests to determine whether blood from the donor is compatible with the person receiving the blood). The type and crossmatch is good for only 72 hours. If the transfusion has not begun within the 72 hour window, then another type and crossmatch needs to be done before he can receive blood. The amount of time between transfusions varies. As of now, the doctors have determined that my son needs a transfusion every 5 weeks. Regular transfusions can cause a dangerous buildup of iron in the body so he needs chelation therapy (medicine to lower the amount of iron in the body). He now takes five different medicines every day for his condition.
Between the two of us, keeping up with prescription refills and doctors’ appointments can be a part-time job. There have been times when I have had an appointment in the morning, only to return later in the evening or the next day for his appointment and vice-versa. Getting and/or keeping a job or maintaining school work can be difficult.
Thanks to certain medicines, such as hydroxyurea (a medicine that can reduce sickle cell-related health problems), people with SCD are able to live longer, healthier lives.
CDC would like to thank Courtney Stinnett for sharing her personal story.
“When AJ was born in 1992, there was a real lack of information and education about newborn screening and sickle cell disease. They just told us he was having a PKU shot and then the doctor actually called on the telephone and gave us his results. It wasn’t really something back then that they talked about. They just said that he has to have a PKU shot. We didn’t know then that it was newborn screening. The doctor told us that the newborn screening showed that AJ has sickle cell disease. I have the sickle cell trait and my husband has the trait. I didn’t really know anything about, or anybody with, the actual disease. But when the doctor said the word ‘disease’ I started crying because I knew that couldn’t be good. At that time, of course, I was devastated. I went to the computer and looked it up and saw what could happen to him and what was down the line for him.
“AJ had his first sickle cell crisis at about 8 months. We didn’t really know what to expect with a crisis, but the early newborn screening test was helpful because we knew he had sickle cell disease. When he had his first painful sickle cell crisis we would never have known to take him to the hospital. We probably would have just thought he was crying to be crying and put a bottle in his mouth. We knew something had to be wrong with him and we didn’t take it lightly. We took him to the hospital and they said that he was having a crisis in the top of his foot. It was important to have the newborn screening done so that we knew to watch for these things. If we hadn’t had the newborn screening done we wouldn’t have known what was going on with him and sought appropriate care right away.
“It’s important for parents to get newborn screening to know if there’s anything wrong with the child. If it’s sickle cell, it just makes you aware of what’s going on with the child, things to look for (if they’re dehydrated, not getting enough water, if they’re crying a lot from pain) because you don’t know that they’re hurting, they can’t tell you.” – Pam Green
AJ, at 19 years old, an accomplished singer and sickle cell disease advocate, has accomplished more than most teens his age and doesn’t let his condition keep him from reaching his goals. In addition to performing for two U.S. presidents, Clinton and Obama, the Grammy-hopeful has shared the stage with Elton John, the Canadian Tenors, Jason Mraz, Rob Thomas, and sang a duet with Jennifer Hudson. He continues to be a strong advocate for the community in his efforts to “put sickle cell on the map” by raising awareness of the condition so that someday it will receive as much attention as other high profile disease states such as cancer. He recently spoke with the kids at the Sickle Cell Disease Association of Mobile, Alabama and joined up with Remington College’s “3 Lives” blood drive campaign which raises awareness for minority blood donors and encourages people to donate blood.
“For the most part I have been able to meet all my goals, but I always strive for bigger goals in life so everything’s not complete just yet. My first aspiration was to be known as a singer and also as an advocate for sickle cell disease. I try to be that inspiration, you know. It’s not as bad as people try to make it seem. I mean, it is, but it’s not. People don’t have to be afraid of it; they don’t have to be held down by it. Try to find triumph in the situation.” – AJ Green
CDC would like to thank AJ and Pam for sharing this personal story.
“My story started when a young man met a young lady on the campus of Florida A&M University. On their first date he asked the young woman if she carried the sickle cell trait! That young man became my dad and the young lady is my mother. My dad carries the sickle cell trait and was well aware that if he married someone who also carries the trait, their kids had a 50% chance of being born with full blown sickle cell disease. He discovered that my mother is not a carrier of the sickle cell trait. The rest is history.
“I am the oldest of three children and the only one with sickle cell trait. The first time I learned I carry the sickle cell trait was as a freshman at the University of Georgia. I called home and my mother said, “Your dad has the trait, but I don’t recall the doctor saying you had the trait when you were born.” All newborns are tested for the trait in Florida, yet I had gone my whole life without knowing.
“Once I learned I had the trait I researched as much as I could and talked with the football training staff. They assured me that the trait would not affect my ability to play. There were four freshmen who tested positive for the trait along with me and we were assigned a trainer who watched us closely during practice sessions and on game day. I was not treated differently by my teammates and went about my life just as I had before. One day I learned that a football player had died from complications of sickle cell trait while participating in spring practice at another university. That’s when I realized that this is a serious issue and I should not take any chances with my health. I played at the highest level in college and it earned me a spot in the NFL.
“I knew from my research that it would not be good for me to play in high altitude, so I prayed I wouldn’t get drafted by Denver, which is at a high altitude. I ended up in Cincinnati and have played at a very high level without any adverse affects of the sickle cell trait. During the 2011 season we did travel to Denver to play the Broncos and that was the first time I can truly say I felt the effects of the trait. I could not breathe after a 10-play series and had to be given oxygen on the sideline.
“Some of the changes I’ve made in my life include eating healthy, avoiding drugs and alcohol, not smoking, and most importantly getting a lot of rest. Everyone in my family knows that I have to take my daily nap. I drink more water, sports drinks, and coconut water than ever before because it is important to stay well hydrated before and after activities.
“Having the sickle cell trait does not exclude an athlete from participating in sports, however, the training staff and coaches need to take precautions to ensure the athlete is not put in dangerous situations. In high school my coaches would get on me because I was always in the back during running drills and I often got very tired. I think back now and realize that it could have been a dangerous situation for me if over-zealous coaches or I had pushed too much during those hot days in south Florida.
“Each year I am saddened to learn of another young athlete dying from complications of the trait while participating in sports. This vicious cycle lets me know that not enough information, education, and spotlight are given to this issue. My goal is to start a foundation, with the primary focus on offering testing for athletes at the high school level and getting education for trainers and coaches on how to help the athletes be the best they can be.”
CDC would like to thank Geno Atkins for sharing his personal story.