Real Stories from People Living with Sickle Cell Disease
- Alissia's Story
- Blaze's Story
- Phillip's Story
- Lametra’s Story
- Aaron Nicole’s Story
- Mimi’s Story
- Rae Blaylark’s Story
- Shantá Robertson’s Story
Alissia Cofer is a former camp director at Camp Cell-A-Brationexternal icon, a free, week-long camp in Burton, TX, for children aged 6–14 with sickle cell disease (SCD). Alissia is no stranger to camp; she was a camper herself as a young girl with SCD. Her participation at Hole in the Wall Gang Campexternal icon in Ashford, CT, as a child is primarily what inspired her to work at camp herself. Becoming a camp director enabled her to connect with kids with SCD more and to give back to the sickle cell community. “Becoming a camp director allowed me to give them (the campers) what I had growing up. They were all my babies, and I was responsible for them. I knew them all by name, and I knew their parents. When I saw their faces lighting up, I knew that I was doing what I was supposed to do.” said Alissia.
Camp Activities and Benefits of Attending Camp
According to Alissia, camp offers kids a variety of indoor and outdoor activities, including horseback riding, ropes courses, ziplining, bike riding, archery, paint ball, basketball, yoga, canoeing, fishing, escape rooms, swimming, rock wall climbing, and singing around a campfire. It also includes time for just hanging out in the cabins and bonding with one another. Learning more about what it means to have SCD and how to best manage the condition is also included among the many activities camp has to offer. Small group discussions are held to let the kids learn more about the different types of SCD, talk about challenges associated with having SCD, talk about the various therapies, and simply to provide a forum to answer questions campers may have about SCD. According to Alissia, one of the biggest impacts camp has on attendees is that it teaches them to become more active in their care. “They are listening and taking it all in,” she said.
According to Alissia, other than a small $25 application fee, attending camp is completely free. A full medical staff is available to care for kids at camp, and there is a hospital emergency department approximately 5 miles away. Campers enjoy the experience so much they tend to return year after year; many also choose to become junior and senior camp counselors. Tight bonds are formed, and campers maintain close connections even after camp by staying in touch with each other by texting and using social media.
Overcoming Challenges Related to Attending Camp
Despite the benefits of attending camp, campers may also face a few challenges, the most common of which is feeling homesick. For many campers, this experience is their first time away from home and they may miss their families. To help, parents can send emails and telegrams to their kids and the older staff try to ease the nighttime transition for these children. In general, however, camp is a time to unplug; therefore, no TV, no phone, and no Internet is allowed.
Getting sick is also a challenge a camper may face at camp. To help prevent a camper from having to go home or to the hospital, camp counselors try to build in enough down time and cabin time to let campers rest and recover from all their activities.
Tips for Kids Living with Sickle Cell Disease and Their Parents
When asked what tips she has for kids living with sickle cell disease, Alissia offered the following
- Stay hydrated.
- Stay warm.
- Get plenty of rest.
When asked what advice she has for parents of kids living with sickle cell disease, Alissia offered the following
- Be there for them.
- Listen to them and provide them with support.
Where Is She Now?
Alissia lives in Austin, TX, and works for the federal government at the U.S. Department of the Treasury. She is also actively involved in the Sickle Cell Association of Texas Marc Thomas Foundationexternal icon.
Each year, Blaze Eppinger, who works for the Sickle Cell Foundation of Georgiaexternal icon and is a strong supporter of those living with sickle cell disease, works as both a camp registrar and camp counselor for Camp New Hopeexternal icon. Camp New Hope is a 7-day, 6-night residential camp for children aged 7–17 years with sickle cell disease at Rock Eagle 4-H Center in Eatonton, Georgia. Camp takes place every July and is staffed by counselors, many of whom, like Blaze, have sickle cell disease themselves. Doctors and nurses are on hand 24 hours a day, 7 days a week to provide general care for campers and to respond to any emergency situations that might arise.
Camp Activities and Benefits of Attending Camp
Camp New Hope offers all of the things a traditional camp does such as campfires, team-building activities, rock-wall climbing, and kayaking, notes Blaze. The only difference is that activities are supervised by nurses and doctors and include sickle cell-related and transition-related educational programming activities as well. Campers learn how to move through life with sickle cell disease and how to transition, a process of becoming more independent and taking more responsibility for managing one’s health and healthcare. Camp also teaches kids how to stand up for themselves and how to be leaders. “I think camp helps kids with sickle cell disease learn how to maneuver with the disease. It helps them to break out of their shell a bit and become more social,” says Blaze.
According to Blaze, he never got to go to camp as a child, but his friend Sean told him about camp, which inspired him to become a camp counselor and to go as an adult. “The best part about being a camp counselor is being able to interact with the children. Being able to encourage them, lift them up, and have them be able to see their future self in me,” Blaze says. He adds, “It’s very rewarding to watch them [the campers] grow up to be positive, help their community, not be limited like society says they will be, and for me to be able to work with the families.”
Blaze believes that camp has many benefits for the kids who attend, including helping kids become more mature, independent, and social. “I enjoy seeing them mature and find themselves. They become more open, positive, and strong. Sickle cell is no longer something that they try to hide,” he says. “I have seen kids who have never before engaged with anyone with sickle cell disease build friendships and who now can talk to anyone about their condition.”
Other Activities Sponsored by Sickle Cell Foundation of Georgia
In addition to Camp, the Sickle Cell Foundation of Georgia coordinates many activities in which kids with sickle cell disease and their families can take part, including annual walks, skate nights, game nights, and parties—even theme parties like their recent Ugly Christmas Sweater party.
Tips for Kids Living with Sickle Cell Disease and Their Parents
When asked what tips he has for kids living with sickle cell disease, Blaze offered the following:
- Drink lots of water;
- Eat lots of vegetables;
- Stay stress-free so your body doesn’t go into crisis; and
- Live a positive life.
When asked what advice he has for parents of kids living with sickle cell disease, Blaze offered the following:
- Always get a second opinion. One doctor may be more well versed in sickle cell disease than another;
- Get the best available help for your child. Review and compare your options when selecting a doctor;
- Schedule and attend regular doctor’s visits;
- Make sure your child is following his or her treatment plan; and
- Be active in your child’s development and help him or her grow and become more independent.
Phillip Okwo is a former summer camp counselor at Camp Crescent Moonexternal icon, a week-long sleep away camp for children with sickle cell disease in Pacific Palisades, CA. For more than 50 years, this camp has helped kids with sickle cell learn more about their condition, coping strategies, and how to stand up for themselves when they are misunderstood because of their disease.
As a young boy growing up with sickle beta zero thalassemia (or HbS beta 0-thalassemia), Phillip was a camper himself. He started going to camp in San Juan Capistrano, CA, when he was just 6 years old. “Camp was a place I could go where I never felt alone. I was no longer the black sheep in my family. It was a way of just feeling normal. There were other people there who have sickle cell like me, some who went to the hospital more than me and some who went less often. The whole spectrum of care was represented. I learned self-efficacy skills in understanding my diagnosis and general life and survival skills as well,” Phillip said. When he aged out of the program, he decided to come back as a camp counselor. “I had a cabin full of 8-year olds and they wore us (me and my co-counselor) out. We didn’t get a lot of sleep, but it was a labor of love,” he said.
According to Phillip, “Anyone with sickle cell disease can attend camp, which lasts from Saturday to Saturday. It is an opportunity for kids to feel normal and get to know other people with the condition. There are so many fun things to do at camp, such as archery, horseback riding, swimming, campfires and songs, talent shows, and treasure hunts. In addition, the camps provide sickle cell educational programs, where they teach kids a number of things, including how to manage their condition, stay hydrated, eat healthy, dress appropriately to stay warm, and avoid over-exerting themselves. Most kids tend to start camp when they are 7 or 8 years of age and age out around age 14 or 15. Many are repeat campers. According to Phillip, “Once you have the camp experience, it is something you want to do again and again unless you get sick or move away.”
To still involve kids who have aged out of traditional summer camp, new options have become available, including mini-camps with programming focused on transition. Transition is the process during which young people with sickle cell disease learn to become more responsible for their health and transfer their health care to an adult healthcare provider. These mini-camps are similar to traditional camp, but do not last a full week. The educational content focuses on navigating the healthcare system, including communication with insurance, specialists, and gatekeepers.
Benefits of Attending Camp
Attending sickle cell camp helps support young people living with the disease in a number of ways. First, it helps kids learn that they are not isolated and alone. Second, it gives kids a sense of self, identity, and value. It also helps build self-esteem through activities such as the talent show, in which kids are able to perform in front of their peers and showcase what makes them unique and special. It teaches important skills and exposes campers to new things. “My favorite thing about camp was archery. I found places to do it outside of camp and introduced others to it. It [camp] just expands your universe of options,” said Phillip. Lastly, it helps instill a sense of achievement and independence. “Camp helps you develop a certain sense of independence. You begin to feel confident that you could leave home and go away to college. If it weren’t for camp, I’m not sure if I could have done this,” said Phillip.
Benefits of Being a Camp Counselor
When asked what motivated him to become a camp counselor, Phillip said, “In a way it was self-serving, as I just didn’t want to be done with camp. I didn’t want to give it up. It was also an opportunity to be an example and to provide mentorship, which is very rewarding. It allowed me to demonstrate to campers that despite having sickle cell disease, there are no limits. We [people with sickle cell disease] are living robust lives. We’re not shackled or restrained. I’m able to let them know what to expect in terms of prognosis with this disease and that they can live full, productive, and rewarding lives if they manage their disease well.”
Phillip recognizes that being a camp counselor has had a big impact on his life. “It helps me understand and appreciate that there are things in life that are bigger than me and my immediate wants and needs. It’s a really humbling thing to do. It’s a way for me to focus on how I can give back to the sickle cell community. Being able to change the morale and outlook of someone’s life is a very powerful thing to do.” And among campers who return every year, Phillip attributes the following changes to having been able to experience camp: “They engage more with others, are more assertive with adults, step out of their comfort zone, are more daring and take more risks, and just tend to have more zest for life.”
Tips for Kids Living with Sickle Cell Disease and Their Parents
When asked what tips he has for kids living with sickle cell disease, Phillip offered the following
- Find your tribe. It will help give you the sense that you’re not alone in this. It’s like the Bible verse, “A cheerful spirit is the best medicine.” Your mental health, in terms of depression and anxiety, makes the severity of sickle cell disease worse, so your tribe is huge.
- Know your sickle cell algorithm. In other words, know which factors (for example, cold or hot weather) can trigger a sickle cell crisis that are specific to your body and adjust and manage those.
- Transition should be a rite of passage for all young adults with sickle cell disease. It’s more important than other rites of passage in a young adult’s life, such as learning to drive, going to prom, and going to college. It’s critical that you learn to make your own medical appointments. You have to be able to take care of yourself.
When asked what advice he has for parents of kids living with sickle cell disease, Phillip offered the following
- Learn to let go. Don’t be fearful and overprotective. You want your child to not only survive, but to thrive on their own.
- Your child doesn’t have to be defined by this. Be measured, know what their strengths and weaknesses are, and continue to challenge them.
- Encourage them to explore a bit and take some risks.
Find a Camp Near You
There are camps like Camp Crescent Moon in other states across the country. In Georgia, there is Camp New Hopeexternal icon. In Texas, there are a number of camps, including shorter, nontraditional retreat-style camps that typically take place over a long weekend. Scholarships are available to help people who may need financial assistance, and costs are minimized by sponsors. According to Phillip, “Everyone should have the opportunity to attend camp. Find a way to make it happen for your child. Costs can be mitigated or defrayed. Don’t let that discourage you. Camp informed how I parent and how I manage my own care. It’s so incredibly valuable.”
Where Is He Now?
Phillip Okwo is a business finance manager and travels between Atlanta and Houston for work. He is the oldest of three children and both his parents are teachers. He is the proud father of two children who have sickle cell trait. Phillip is also active in the Morehouse Class of 2003 Alumni community.
In September 2012, Lametra Scott gave birth to a baby boy. She named him Rickey. Before his birth, Lametra had no idea that she carried the sickle cell trait (SCT). It wasn’t until one of her prenatal visits that her doctor told her that she and her son’s father both had SCT, and that their son would have a 25% (or 1 in 4) chance of having sickle cell disease (SCD). The doctor provided her the option to speak with a genetic counselor to determine possible next steps for her pregnancy. Because of her strong faith, Lametra chose to continue the pregnancy.
Getting the Diagnosis
When Rickey was born, his primary care doctor tested him for SCD and Lametra was comforted to learn that her son did not have the disease. She was told that he carried the trait for SCD just like his parents. She and her son’s father immediately breathed a sigh of relief. However, this comforting feeling did not last long, as the State of Tennessee Department of Health soon contacted her and requested that she take Rickey in for confirmatory testing. The health department worker explained to her that a repeat test was needed to confirm Rickey’s initial newborn screening test results, which indicated he had SCD. This was the first time Lametra was made aware of Rickey’s newborn screening results. The test was repeated, and the results showed that Ricky did in fact have SCD. As you can imagine, this news was a devastating blow to the family. “It was like I got the wind knocked out of me,” said Lametra.
Finding and Sharing Resources/Information About SCD
Online and community resources and information about SCD were somewhat limited when Lametra found out about her son’s diagnosis, but she did have access to knowledgeable providers who helped to educate her about the condition. Her hematologist (a blood disorders specialist), Dr. Michael DeBaun, and his nurse, Jeannie Byrd, were an incredible source of information, giving Lametra a handbook for new patients that was very helpful. There was also a sickle cell support organization in the city, but there was not an organization with an initiative that focused on SCD education. This is when Lametra decided to start Breaking The SSickle Cell Cycle Foundationexternal icon—to increase SCT awareness and to fill the gap in education about SCD. She wanted to be a source of information and support for people who were going through the same things as she was and also help educate others about SCD. Today, Rickey is not shy about sharing his condition with others and even helps his mom educate people about SCD. “Most of the time, he is with me at community SCD awareness events. He helps me pass out SCD flyers. He explained his condition to his kindergarten teacher by saying his “blood cells are sticky and shaped like bananas, not like donuts. They stick together and make my legs hurt.”
Overcoming Challenges Associated with SCD
Rickey has experienced dactylitis (inflammation of finger/toe joint), leg/shin, ankle, and back) pain due to his SCD. At age 3, he also required a blood transfusion after developing acute chest syndrome, a common complication of, and leading cause of death for patients with, sickle cell disease.
Lametra has had to explain to Rickey why it is so important that he takes his medicines every day. Potty training was also a challenge according to Lametra. “Because of the need to drink more water to prevent SCD pain episodes, combined with the effects SCD has on the kidneys and their ability to concentrate urine, enuresis (bedwetting) can be a problem for children and teens with SCD. This symptom of SCD can be very discouraging, and weighs heavily on a child who is new to learning how to control bodily functions and trying very hard not to wet themselves.”
Lametra also noted that they have faced certain challenges at school. Whenever she takes Rickey to a new school or program or a friend’s house, she meets with each person (parents, teachers, social workers, nurses, principals, etc.) to discuss SCD. She helps them understand more about Rickey’s condition, informing them of his unique needs. For example, she may let them know that he may need to use the bathroom more frequently due to his increased fluid intake requirements and the effects SCD has on the kidneys. “I try to let him live the life a child wants to live, inclusive of any activities that he finds interest in; he just may have to make some adjustments and/or accommodations for SCD. For example, he needs to stay hydrated during gym class and summer camp and make sure that he does not over-exert himself. I have to make sure he understands his need to take breaks when he needs to and talk to the school staff to make sure they understand his needs too. In addition, they all have to know what to do if he does find himself in a situation where SCD pain is preventing him from participating in regular activities. Another activity in which Rickey can participate, as long as he takes a few extra precautions, is swimming. Rickey started swim lessons at 6 months old. I wanted to make sure he did not fear the water and learned to swim at an early age. I looked for programs and facilities that performed swim lessons in heated pools. I have him wear a wetsuit to help keep his body warm and protect against cold water, which could trigger a sickle cell pain episode. With proper planning and set parameters in place, he participates in regular activities just as other children. There are no limitations to what Rickey can do, but modifications may be needed.”
Tips for Others
When asked what tips she has for others with sickle cell disease, Lametra offered the following:
- Education is key. Educate yourself as much as you can. Don’t believe hearsay. Get reputable information first-hand on how to effectively manage SCD.
- Be an advocate for your own health. Be involved in healthcare decisions.
When asked what advice she has for parents of kids living with sickle cell disease, Lametra offered the following:
- Don’t be afraid to let your child be a child. What works for one, may not work for you. If something poses a problem, find alternatives and allow your child to choose among them. For example, my son wanted to play soccer, which is very aerobic. Instead, he does martial arts, which only requires short bursts of energy, as opposed to activities that require constant running up and down a field. He also plays baseball. Find activities your child can participate in safely and that decrease the chances of leading to a hospital visit. If your child wants to go out and play in the snow, bundle them up and let them go out for 5–10 minutes and then have them come back in again and get warm. With proper planning and modifications, your child can enjoy many of the same things other children do.
- Start the transition process earlier. From pediatric to adult SCD care, start the transition process earlier on before it’s actually time for the transition to occur. Transition is the process of your child moving from a pediatric care provider to an adult care provider. It is also the period when your child becomes more responsible for his or her own health and healthcare. Allow your child to speak during doctor visits. Assist your young adult child in setting up an appointment to meet with the adult care provider early on so that it’s not a cold handoff. This way, you and your child will know what’s expected and it will be easier on everyone.
Where Is She Now?
Dr. Lametra Scott is the Founder and Executive Director of the Breaking the Sickle Cell Cycle Foundation, Incexternal icon. She started the foundation in 2015 to provide community support and to educate her peers and providers. She is also a pharmacist with the State of Tennessee. As a guest lecturer, she teaches SCD best treatment practices to rising Doctor of Pharmacy students at the University of Tennessee College of Pharmacy, her alma mater, and Lipscomb University College of Pharmacy. In addition, she has been a guest speaker for Tennessee State University’s Respiratory Therapy Program and has spoken to future social workers at Columbia State Community College about the systematic healthcare disparities SCD patients experience when seeking care. She also works with churches and other organizations to conduct SCT testing.
CDC would like to thank Lametra and her son, Rickey for sharing their story.
Aaron Nicole Washington is 25 years old and a sophomore in the Georgia Tech Excel Program, a program that gives people with developmental issues a chance to experience college life. Aaron is also a motivational speaker who inspires audiences with her story of being the first successful nonmatched bone marrow transplant for sickle cell disease.
The best bone marrow transplant outcomes happen when a patient’s human leukocyte antigen (HLA) and that of a donor closely match. HLA is a protein–or marker–found on most cells in your body. Matching certain markers is critical to a successful transplant. Learn more at Be the Matchexternal icon, a leading bone marrow transplantation program that helps patients find life-saving donors and provides support throughout the transplant process.
Aaron’s Sickle Cell Diagnosis
Aaron was first diagnosed with sickle cell disease as an infant. Her diagnosis came as a complete surprise. At the time, her parents were not aware of anyone else in her family who had sickle cell disease. Her parents were frightened when Aaron was diagnosed because they didn’t know much about sickle cell disease and were afraid they wouldn’t know how to take care of her properly.
Physical Impact of Sickle Cell Disease
Having sickle cell disease nearly killed Aaron. She experienced one devastating medical complication after another. She had her first episode of pain, called a sickle cell crisis, at 8 months old and her first stroke at 8 years old. Her doctors told her she would not live to see her 13th birthday. She was diagnosed with acute chest syndrome, a common complication of sickle cell disease that can result in lung injury, trouble breathing, low oxygen to the rest of the body and, possibly death. Throughout her early childhood, she missed school frequently to go to the hospital for blood transfusions every 2 weeks. The blood transfusions resulted in an additional medical complication called iron overload, a build-up of excess iron in the organs of the body. To balance out the iron levels in her body, she had to have a procedure called chelation therapy.
Finding a Cure, But Facing More Complications
The only known cure for sickle cell disease is a bone marrow transplant, and the procedure was still considered experimental. Aaron and her family were willing to take the risk, as they had so much to gain if the procedure proved a success. Aaron’s family members were tested to identify a match for her, and fortunately, her oldest sister, Tayla, was a close match. Aaron successfully underwent the experimental nonmatch bone marrow transplant at age 12! Her sickle cell disease was cured. Her life improved dramatically from that point forward, but her journey did not end there. Aaron began to have epileptic seizures. She tried more than 20 different types of medicines to control the seizures until she found one that worked. At 13 years old, Aaron experienced another stroke that made her lose her memory. She forgot how to walk and talk, and even had no memory of herself and her family. She had to have brain surgery to remove her right frontal lobe due to the damage she sustained from her strokes. It wasn’t until after this brain surgery that Aaron finally got some relief. Thanks to the surgery and to a seizure medicine that works, she has been seizure-free for the past 5 years.
Emotional Impact of Sickle Cell Disease
So, what was all of this like for Aaron growing up? In a word, stressful. Aaron said she felt like she was a huge burden on her family. Her mom lost many jobs because of the amount of time she needed to devote to taking care of her. Aaron always knew she was different. She had to walk to school with an oxygen tank because she couldn’t breathe very well and got picked on by her peers who called her names. “I was a bully’s paradise,” Aaron said sadly. Attending Camp New Hope, a summer camp for kids with sickle cell disease, helped Aaron make friends and realize that she was not alone. “It was great knowing that I’m not an outsider. There are thousands of people with sickle cell disease in the world, and a couple out there just like me,” she said. Not being able to do the same things that others her age could do also discouraged Aaron. Growing up, she was unable to enjoy playing sports like her brothers and sisters. Aaron always wanted to be a ballerina but couldn’t because of her condition. Unlike her siblings, she spent a lot of her time at the hospital. As a result, Aaron had to retake classes, including repeating the 8th grade, as well as having to move to different schools to be closer to her hospital. Her memory and reading comprehension were impacted by the strokes and she needed to go to a school that could help her learn. She remembers asking her parents, “Why me?” Today, though, Aaron is doing much better and enjoying life more.
Advice About Sickle Cell Disease for Others
When asked what advice she would have for others, Aaron offered the following:
- “It’s your body. Sickle cell disease doesn’t control you. You control sickle cell disease.”
And when asked for tips specifically for parents, she said:
- “Don’t treat your child like they are broken. Most of the beautiful things in the world are broken. Broken and Beautiful.”
CDC would like to thank Aaron Nicole for sharing her story.
“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.
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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.