One family's struggle with sickle cell disease: in the home of Dorian and Lavender Simpson, both of their children are victims of the painful blood disorder

Aldore Collier

EVERYTHING about Tiffany Simpson appears to be perfectly fine. But pain and drugs have been her unwelcome, constant companion for much of her life. The 15-year-old, who lives in the San Fernando Valley section of Los Angeles with her parents and brother, has sickle cell disease. And so does her 5-year-old brother, Dorian Simpson Jr.

The bright, attractive and, when she can be, very sociable youngster has been in and out of hospitals most of her life. She hasn't been to school since early January and desperately misses her friends and the daily routine that many students take for granted. "People have heard of sickle cell disease, but they don't pay attention to it because they're not dealing with it," says Tiffany's mother, Lavender Simpson. "We're dealing with it every day."

Dorian Jr. has, so far, fared better than his sister. However, several months ago, while Tiffany was in the midst of her crisis, he, too, was hospitalized for similar, excruciating pain. "Tiffany was in the hospital in Northridge [Calif.] and he was in Tarzana," says Dorian Sr., who, like his wife, is 36 and a native of Detroit. "My wife and I had to tag-team. We would both be at a different hospital. In the morning, I'd be at the hospital visiting him, then switch with Lavender and go to see my daughter in the afternoon."

Sickle cell disease is an inherited blood disorder passed from parents to their children. It causes red blood cells to change their shape to sharp sickle or crescent shapes and can clog blood vessels. "When blood vessels become blocked, body tissue can become damaged as the result of not receiving an adequate supply of blood," says Dr. Willarda Edwards, president of the Sickle Cell Disease Association of America. "This blockage, depending on where it occurs in the body, can cause tissue damage, pain episodes and stroke. Common symptoms of sickle cell disease [SCD] include fatigue, paleness, jaundice, shortness of breath and pain in the body organs and joints."

If both parents have the trait, there is a 25 percent chance of them having a child with the disease. Sickle cell affects between 80,000 and 100,000 victims, primarily Black individuals. Dr. Edwards points out, however, that it affects those of Mediterranean descent and Hispanics in smaller numbers.

And, sadly, despite ongoing research, there still is no known cure. Parents can only try to make their children as comfortable as possible and, according to Lavender Simpson, "keep them hydrated, ]make sure they] exercise and eat a balanced diet. And pray."

"The pain is really hard to deal with. I experience pain pretty much through my entire body--my arms, my back, my legs," says Tiffany, in a voice of quiet resignation. "It's sharp pain everywhere. I have to stay hydrated at all times. That can help, but I've been in continuous pain since November."

Because of her ongoing crisis, Tiffany completes her school assignments at home, and she hopes to join her classmates soon. In the meantime, she is at home, battling the excruciating, almost unbearable pain.

When Tiffany is in crisis, doctors give her extremely potent drugs in an effort to alleviate the pain, but unfortunately many of them no longer give her relief.

According to Dr. Edwards, proper hydration and blood transfusions can help, especially when patients are young. However, the downside of transfusions is the fact that iron accumulates in the body and can adversely affect various organs. Fortunately, research has produced a new product called Exjade, an oral medication that is designed to help reduce the iron buildup in the body, she says.

Sickle cell disease (also known as sickle cell anemia), in the opinion of many African-Americans, has not gotten the attention it deserves from the medical community, thereby directly impacting the possibility of finding a cure. The Simpsons say too few doctors deal with the disease or even have knowledge about it. "Many times, when a crisis comes up, we know more [about the situation] than the doctors do," Lavender Simpson points out.

In the 1970s, Dr. Edwards says the disease garnered significant attention, but it has almost fallen off the radar, with less public information being disseminated about it. She says an estimated 2.5 million to 3.5 million people are carriers or have the trait. But the fund-raising, advertising and educational efforts are lacking, she says.

The Simpsons, due to their family situation, are probably as knowledgeable about sickle cell disease as anyone whose lives have been affected by it. After Tiffany was born, the Simpsons tried to find as much information as they could about the disease. Armed with the growing knowledge they had gained over the years, they eventually had thoughts about having another child, despite the risks. But they took the chance.

"It was devastating when we found out that DJ also had it," says Dorian Sr., who works with the California Highway Patrol. "We had weighed our options. We knew that both of us had the trait, but there was a 75 percent chance that our child would be born with just a trait or nothing at all. Normal. We wanted to have a larger family. The odds were in our favor."

Beyond taking care of their children, Lavender Simpson is diligent when it comes to spreading the word about sickle cell disease. She works with a sickle cell foundation and wants to set up one near their home to educate and support others in an effort to lessen their emotional pain.

Despite their children's condition, the Simpsons say they live their lives without focusing on the negative. Sure, their children have a devastatingly painful disease, but there is tremendous humor and love in the tight-knit household. "They [children] give us strength," Lavender Simpson says. "Everyone is given challenges and obstacles to overcome. And this is our calling to try to make a difference. The disease is not keeping us down. Every day, I wake up bright-eyed and bushy-tailed."

The Facts About Sickle Cell Disease

With all of the attention paid to recent advances in the treatment of serious conditions that affect the African-American population--diabetes, hypertension and heart disease--it's easy to lose sight of another, oftentimes fatal, condition that has long been a problem--sickle cell disease (SCD). Dr. Willarda Edwards, president and chief operating officer of the Sickle Cell Disease Association of America, Inc. (SCDAA), sets the record straight.

What is sickle cell disease?

DR. EDWARDS: Sickle cell disease is an inherited blood disorder--meaning that it can be passed on to unborn children. Sickle cell disease causes red blood cells to change their shape and become sticky, resulting in the potential to clog blood vessels. When blood vessels become blocked, body tissues can become damaged as the result of not receiving an adequate supply of blood. This blockage, depending on where it occurs in the body, can cause tissue damage, pain episodes and stroke. Common symptoms of SCD include fatigue, paleness, jaundice, shortness of breath, and pain in the body organs and joints.

Who is affected by sickle cell disease?

DR. EDWARDS: Sickle cell disease affects more than 80,000 Americans, the vast majority from the African-American community. It is estimated that another 200 million people worldwide are disease carriers, meaning they have the trait, or gene, that causes the disease. The sickle cell trait does not turn into SCD, but can be passed on to offspring. A couple who has sickle cell trait has a 1 in 4 chance of having a child with sickle cell disease. If you don't know if you have the trait, you should speak with your physician about getting tested.

How is sickle cell disease treated?

DR. EDWARDS: Most of the time SCD is managed with supportive care--care that is aimed at improving a person's quality of life. Staying well-hydrated, use of penicillin in children to decrease infections, use of hydroxyurea in some patients and regular blood transfusions are all important parts of the supportive care of SCD. Regularly scheduled blood transfusions treat SCD by increasing the number of normal red blood cells in circulation, which in turn helps to reduce episodes of pain, risk of stroke and other complications. The value of transfusion is increasingly recognized in helping some SCD patients. Recently, based on the results of a pair of studies, the National Heart, Lung, and Blood Institute (NHLBI) found that blood transfusions helped to prevent strokes in children with SCD.

However, because the body does not have a way of eliminating the excess iron received through these transfusions, repeated transfusions may cause iron to accumulate in the heart, liver and other organs. This often leads to a potentially life-threatening condition called iron overload, which often goes unrecognized because people rarely experience noticeable symptoms. If iron overload is left undiagnosed and untreated, it can lead to life-threatening consequences.

What can be done about iron overload?

DR. EDWARDS: Excess iron can be removed by using an iron chelator, a medical therapy that binds to the iron and helps to remove it from the body While historically patients have had access to an infused therapy, many of them have been unable to remain on treatment due to the lengthy and frequent, often daily, infusions, which require a needle under the skin, and may cause pain, bruising and scarring. A new FDA-approved oral iron chelator, called Exjade, could help many people who were unable to stay on infused therapy, or who are not, but should be treated for iron overload.

Can children with SOD participate in routine daily activities?

DR. EDWARDS: Many children are able to take part in routine activities, but each person is unique and therefore his or her participation level may vary What is most important is that patients and their families, because SCD is a family affair, remain educated about SCD and have an ongoing dialogue with their physician about what treatment will work best for them. For more information on SCD, you can visit our Web site at www.sicklecelldisease.org.

About Dr. Willarda Edwards

Dr. Edwards is president and chief operating officer of the Sickle Cell Disease Association of America, Inc. (SCDAA). She is an internist and managing partner in a private practice partnership in Baltimore since 1984. Dr. Edwards received her medical degree from the University of Maryland, School of Medicine and holds a masters in business administration from Loyola College of Baltimore.

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