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There is no cure for sickle cell disease, but treatments are improving.

Alexus Carr doesn’t dwell on when she could die as a result of sickle cell disease. Instead, she talks about how she refuses to let it hold her back.

“To me, it’s as long as I want to go. I’ll take it one day at a time,” she said.

Carr, 21, does not hide her condition, even while working as a business associate at The Austin Diagnostic Clinic Steiner Ranch. Trained as a medical assistant and an active member of sickle cell disease advocacy organizations, she says she wants to educate as many people as possible about the disease.

“I got into the health field because of this — so I can educate and help out someone else who is going through the same thing,“ she said.

What is sickle cell disease?

Dr. Ann Abraham, family practice physician at ADC, explains that sickle cell disease is a genetic disorder that causes a person’s red blood cells to be abnormally shaped. The shape makes them more likely to clump together and block small blood vessels that are trying to carry oxygen to all the organs in your body.

“In order to have the disease you have to get one gene from your mom and one from your dad,” Dr. Abraham said. “This gene changes a protein in red blood cells, called hemoglobin, that carries oxygen, and makes the cells more likely to clump.”

The shape of the cells makes it difficult for the blood to flow through the body. They can get stuck and clog blood flow. The cells also die early, causing a constant shortage of red blood cells.

When the blood cells get backed up in a vessel, it can cause pain, because that part of the body is not getting enough oxygen. When the situation is severe, Carr describes it as a “pain crisis.”

Types of sickle cell disease

Dr. Abraham says there are three main forms of sickle cell disease. The condition depends on the genes inherited from the mother and father.

“The most severe form is when you inherit the sickle cell hemoglobin (called hemoglobin S) from both parents. Sickle cell trait is when you only inherit one sickle cell hemoglobin and one normal hemoglobin (called hemoglobin A),” said Dr. Abraham.

Carr has the SC form of the disease, which is slightly less severe. She was diagnosed as a baby.

“I had stopped walking, and I would just cry and nothing would be wrong,” she said. “(My mom) said she had tests done, and it came back that I have the ‘SC.’ My mom, dad and brother have the trait, but I am the only one with the full-blown disease.”

Sickle cell disease symptoms

Dr. Abraham says the symptoms vary depending on the form of the disease. They can range from no symptoms to severe.

“The most common presentation for the disease is bone pain, often in the chest, abdomen, back, or extremities,” Dr. Abraham said. “It can be associated with fever or swelling in the area of pain, nausea and vomiting.”

Dr. Abraham says pain can be triggered by stress, dehydration, infection or being in high altitude locations (like the mountains) where the oxygen concentration in the air is lower.  However, it often has no trigger.

Carr says she can often manage the pain.  She does everything she can do to avoid taking pain medication, because she does not want to be dependent on it.

“I think that’s my biggest fear when battling sickle cell — I don’t want to be dependent on the pain medicine to get me through the day,” Carr said. “I don’t want to use it as a crutch. I can do anything someone else can do — the only thing is I have a different condition.”

She uses Bengay, heating pads, massage and exercise like yoga to keep the blood flowing as smoothly as possible through her vessels.

She says hydration is also key.

“If I’m not taking enough fluids, then (my doctor) will have me go into the infusion lab and maybe we’ll do three hours worth of fluids every other day to see if that works. And if not, then the last resort is the pain medicine,” Carr said.

Dr. Abraham says pain in the bones can last for hours or days.  It also causes anemia or a low red blood cell count that can make you feel tired.

“It can also make you more prone to life threatening infections because the organ that cleans your blood — called the spleen — gets clogged up and often needs to be removed at a very young age,” Dr. Abraham said.  “Basically, it can affect the function of any organ system by interfering with oxygenation of that organ — in the brain, it can cause a stroke; in the heart, it can cause a heart attack.”

There is no cure for sickle cell disease yet. Dr. Abraham says blood stem cell transplantation has potential, but it must be done at a very young age. What’s more, the procedure itself has life threatening complications that could be worse than the progression of sickle cell disease.

Treatments

So if there is no cure, what can be done? The main treatment is prevention and treatment of complications.

“Regular office visits with your doctor are important to keep ahead of any potential complications,” Dr. Abraham said. “Hydroxyurea is a medicine used to reduce the number of sickling red blood cells, which in turn, reduces the symptoms and hospitalization rates and prolongs survival. Immunizations and antibiotics, used in young children, are important to prevent infection.”

Keeping the body hydrated helps keep the blood flowing smoothly. Blood transfusions may also be used in treatment. And thanks to improved treatments, people with sickle cell disease are living into their forties and longer.

“I believe that they are going to find a cure one day. I still have faith in that,” Carr said. “To me, it’s as long as I want to go. I’ll take it one day at a time.”

For support, Carr recommends joining a sickle cell organization and meeting with a hematologist.

“Be open with your doctor. Don’t hide anything or act like everything is OK,” Carr said. “Doctors know when you’re hurting or when there is something you need to get off your chest.”

Carr says some days are harder than others, especially when she feels like no one understands. But she tries to think positively.

“The sun always has to come out tomorrow. Even if it’s raining — the sun is still coming out. Just get through that one step and talk to someone you know will listen who will not judge you. Just know that you’re a warrior, just like the next person, and don’t give up on it,” she said.

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