Pushing Past the Pain of Sickle Cell Disease

For many kids, growing up in Denver means enjoying the great outdoors throughout all the seasons. But for 11-year-old Imani, any exposure to temperature extremes or high altitude can make her very sick. That means missing out on trips to mountains, playing in the snow or taking refreshing dips in the pool on hot summer days.

Imani has sickle cell disease (SCD), a broad term for a group of inherited red blood cell disorders that affect how the protein hemoglobin delivers oxygen to the body. Healthy red blood cells are round and soft and can easily move throughout the body’s small blood vessels. But Imani’s red blood cells, called “sickles,” can get stuck in smaller blood vessels, blocking blood flow, because they are c-shaped, hard, and sticky.

SCD can cause pain, infections, acute chest syndrome (a life-threatening condition), and stroke. Pain — also called a “crisis” or “episode” — is the most common complication of SCD and the top cause for hospitalization. To prevent a pain episode, individuals with sickle cell must avoid high altitudes, such as going to the mountains and flying, and they can’t get too hot or too cold.

“There’s a lot of things I can’t do, or I might end up in the hospital,” Imani says. “It’s hard not to be able to play with your siblings or friends and do what they are doing. Sometimes I get upset or sad because I want to do normal things kids without blood disorders can do.”

There are several forms of SCD with a broad range of severity. Imani has Hemoglobin SC Disease (Hb SC), typically associated with less severe symptoms, but she has been profoundly affected by the disease. 

Diagnosed with SCD through standard newborn screening, Imani has been receiving care from Rachelle Nuss, MD, director of the Hemoglobinopathy Program at Children’s Hospital Colorado, since she was 1 month old. Dr. Nuss still remembers her first meeting with Imani’s parents.

“They did not know they were at risk for having a child with sickle cell,” Dr. Nuss says. “They were very surprised to learn they each carried a trait that didn’t cause them any problems but was passed on to Imani and would cause her to suffer.”

Imani’s mom, Tristanda, said her daughter’s condition was relatively stable the first five years of life, but she had to closely monitor her for signs of illness. SCD reduces the body’s ability to fight infection, so every fever of 101 or higher can be life-threatening and requires an immediate trip to Children’s Colorado’s Emergency Department for a blood draw and antibiotics given into a blood vessel.

“Those first few years were hard – they’re all hard – but especially dealing with an infant that can’t tell you what’s wrong, that was really hard,” Tristanda says.

“Children’s Colorado is my family”

Pain that can’t be managed at home is the main reason Imani has been hospitalized more than 20 times at Children’s Colorado and has made countless trips to the Emergency Department. Her pain episodes can be excruciating and can occur in her arms, legs, abdomen, and chest.

“Sometimes, my entire body hurts,” Imani says. “When I have my pain, it can feel like stabbing or jabbing, and it hurts really bad. It can last for a week, more than a week, or it may only last for a day.”

Imani also experiences pain in her spleen because the sickle cells can pool there, making it grow too large, and then her blood count suddenly falls. When more severe complications like this occur, Imani must receive a blood transfusion that’s more closely matched to her than a regular blood transfusion.

“Despite having a generally milder form of SCD, she’s experienced a lot of tough times,” Dr. Nuss says. “Imani has become very good at recognizing when she needs to go to the hospital. She has really matured because of this disease, for sure. She is a great kid, and her mom has done a super job taking care of her.”

Imani says she appreciates that her medical team at Children’s Colorado have been so invested in her care through the years.

“They listen, they include me in my healthcare and even call and check on me when I’m at home,” Imani says. “Children’s Colorado is my family; they always help me get through my pain and overcome it.”

When she’s hospitalized, Imani says she really enjoys making crafts or creating art with child life specialists to pass the time and take her mind off her pain. She also frequently tunes in to or visits Seacrest Studios to play bingo and trivia.

“I win a lot of the games, and they have the best prizes,” Imani says. “They know I like Legos, so they always bring me them as prizes to choose from. I’ve even gotten a lava lamp and Nuggets tickets.”

Advancing a cure for sickle cell disease

Treatments for SCD are primarily focused on preventing or limiting pain. The only cure for SCD is a bone marrow transplant, which is limited to young people with the most severe cases who have a related bone marrow donor that’s an exact match.

A recent national clinical trial led locally by Dr. Nuss and colleagues at Children’s Colorado is broadening those parameters, giving hope to many. Results from the trial demonstrated that relatives whose bone marrow was even a half match could be successfully donated. All five teens who participated in the trial were cured of SCD. While this breakthrough won’t directly benefit Imani, because of her type of SCD, Dr. Nuss believes the future will hold more options.

“I am hopeful, very hopeful, that there’s more we can do for Imani and kids like her,” Dr. Nuss says. “There are a few research trials we are considering that might include people with her type of sickle cell. They are often excluded from trials because their type of SCD is considered less severe.”

For now, Imani is focused on living her life as normally as possible. She particularly enjoys dancing, playing basketball and traveling — especially to California and Las Vegas. She’s also quite the foodie and is considering a future career as a chef (or as a dancer or a hair stylist).

“I love to eat,” she says with a laugh.