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Day By Day Family Struggles to Find Best Care for Son With Sickle Cell Disease

Posted on: Wednesday, 15 March 2006, 00:00 CST

By Elena F. Epstein\ Correspondent

As Eric Morgan Stuart tucks his 5-year-old son, Atreyu, into bed, he tells him a story of a little boy who was feeling sad because he had an illness called "sickle cell" and none of the other kids in school knew much about it. But, the father gently tells his son, even though this little boy had to take medicine every day and visit the hospital every two months for checkups, he could still do lots of fun things, like go to the movies, swim and build towers with his Lego blocks.

It's through these nightly stories, as well as research and medical consultations, that Stuart is helping his son, born with the inherited red blood cell disorder, better cope with his chronic illness.

"We want to give him a strong foundation and keep him motivated," says Stuart, who lives in Sherman Oaks with his wife, Kim, Atreyu and 1-year-old daughter, Shiyanne, who did not inherit the disorder.

Atreyu is one of about 72,000 Americans with sickle cell anemia, which is particularly common among people whose ancestors come from sub-Saharan Africa, Spanish-speaking regions, Saudi Arabia, India, and Mediterranean countries.

Children with the disease have a 15 percent chance of having a stroke before the age of 20. Many die in their 20s and 30s due to some type of organ failure. Many face chronic pain, the need for regular blood transfusions, anemia, heart and lung problems. The disease can cause damage to most organs, including the spleen, kidneys and liver. Young children, in particular, can easily develop life-threatening complications due to certain bacterial infections. If narrowed blood vessels are in the brain, patients face a high chance of strokes and must be treated with regular transfusions of red blood cells to reduce the chances of a stroke.

According to the Sickle Cell Anemia Association of America, the disease occurs in approximately 1 in every 500 African-Americans and 1 in every 900 Hispanic Americans. About 130 babies are born in California each year with sickle cell disease, according to Mary Brown, president of the Sickle Cell Disease Foundation of California.

Sickle cell disease causes red blood cells, which are normally disc-shape, to become sickle-shape (crescent-shape). These distorted cells can block small blood vessels and damage tissues that cannot receive normal blood flow. It can affect virtually every major organ in the body. Sickle cell conditions are inherited from parents in the same way as blood type, hair and eye color. And for a child to have the disease, both parents must carry the trait. In the U.S., that's about 2 million people, with 1 in 12 African-American and 1 in 16 Hispanic Americans.

When Kim Stuart was pregnant with Atreyu, she and her husband knew there was a possibility that their first-born child might have sickle cell disease because they were both carriers. But the odds were in their favor. There was a 75 percent chance their baby would either be healthy or simply carry the trait, but not develop the disease.

Atreyu was born without any complications on Feb. 9, 2001, but he went through the routine state-mandated newborn screening for the sickle cell disorder and a host of other illnesses. On Valentine's Day, Eric and Kim received a call from their doctor saying Atreyu had sickle cell disease.

"I was scared," recalls Eric Stuart. "I was mad at myself and I felt I had let my child down because he inherited this from me. We cried a lot, and we prayed a lot."

But soon, the young parents felt something much stronger than fear - an unrelenting determination to find the best care for their little boy.

"As depressed as we were when we first got the news, we knew we had to learn more about this disease," says Kim Stuart. "We went on the Internet and started reading and learning as much as we could."

The Stuarts' quest for the best possible care brought them to Childrens Hospital Los Angeles, one of the largest sickle cell disease centers in California and one of 10 federally funded programs in sickle cell research in the United States. There, a team of specialized physicians, nurses and social workers began working with the family.

"We didn't know anyone with sickle cell, but at Childrens Hospital we met other parents in the same situation," says Eric Stuart. "It's good to share your experiences so you don't feel so isolated."

Despite recent advances in diagnosing and managing the disease, sickle cell disorder is still misunderstood, even within the medical community. "Education is one of our main goals," says Dr. Thomas Coates, section head of hematology at the Childrens Center for Cancer and Blood Diseases at Childrens Hospital and director of the Red Cell Defects Program. "We get a lot of patients referred to us whose primary physician knew very little about sickle cell and how to best manage it."

Due to the importance of early intervention, Childrens Hospital Los Angeles has recently formed a Sickle Cell Task Force to not only enhance the hospital's quality of care, but also to create greater awareness in the community about this devastating disorder. Hospital representatives go into the community to speak to primary care physicians, nurses and emergency room doctors about the acute complications of this illness.

"There is a lot of misconception out there," says Debbie Harris, a pediatric nurse practitioner in Childrens Hospital's Sickle Cell Disease Program and a frequent speaker on the subject. "These kids could die from their infection if there is a delay in receiving antibiotics, or end up in the emergency room in severe pain, and no one believes them."

Researchers are also working to better understand complications of the disease, such as acute chest syndrome, which can develop without warning. It happens when an infection or trapped red blood cells in the lungs cause chest pain, coughing, difficulty breathing and fever. The syndrome is responsible for 25 percent of deaths among afflicted patients, according to Dr. Punam Malik, a physician- scientist at Childrens Hospital.

She has embarked on a new four-year study to investigate a possible indicator for the onset of this syndrome, which would give physicians the opportunity for timely intervention.

Malik and her team are investigating a correlation between "placental growth factor," a protein found in red blood cells, and acute chest syndrome. The higher the growth factor, Malik has observed, the more likely the patient will suffer a "sickle crisis." Within three days of hospitalization for sickle crisis, 50 percent of patients developed the pneumonia-like illness. "My hope is that one day we will have an antibody to block this syndrome's devastating effect," says Malik.

In the meantime, parents of kids with the disease must constantly monitor them, while trying to keep life as normal as possible. Although Atreyu is a typically rambunctious preschooler who loves to play with his Hot Wheels and Rescue Heroes, he has had pneumonia three times, acute chest syndrome once and has been hospitalized six times, the longest stay lasting 14 days. He loves to swim, but the sudden change in body temperature will trigger joint pain, so his dad bought him a wet suit, allowing him to enjoy the pool for 30 minutes at a time.

Atreyu must also avoid high altitudes and stay well-rested and hydrated at all times. "We try to live a normal life as much as possible, but the disease is always at the forefront of your mind," says Kim Stuart. "But you have to stay positive and enjoy every day with your child."

Health-management strategies

Since there is no cure for sickle cell anemia and life expectancy can be compromised by stroke or organ failure, those afflicted must focus on proper health-maintenance strategies, such as recognizing the early signs of life-threatening complications and seeking prompt treatment.

"Our goal is not only to keep these kids alive, but healthy, with a good quality of life and to make complications much less damaging," says Childrens Hospital hematologist Thomas Coates.

According to Coates, the following issues are important considerations in managing sickle cell disease:

--Since sickle cell can only result when two carriers have a child together, genetic counseling is recommended for all carriers of sickle cell trait.

--Prompt treatment of infections, receiving necessary vaccinations, preventing dehydration, good nutrition and proper activity levels all can decrease the chances of serious complications.

--Since sickle cell can affect various organs of the body, patients are best treated in a comprehensive multidisciplinary healthcare facility by a team with experience in management of sickle cell disease.

--Living with a chronic illness can cause emotional and psychological stress. There are programs available for patients and families, such as specialized summer camp and support groups, to help relieve stress.

--Blood transfusions help benefit sickle cell disease patients by reducing the risk of stroke and other complications. In order to provide the proper blood match, more donations are needed from the African-American and Latino communities.

- E.E.

LOCAL RESOURCES

--Childrens Hospital Los Angeles; www.childrenshospitalla.org; (323) 669-2121. The Division of Hematology/ Oncology offers advanced diagnosis, treatment and long-term health maintenance for children and young adults with all types of sickle cell disease. To donate blood, contact the Childrens Hospital Blood Donor Center: (323) 669- 2441.

--Sickle Cell Disease Foundation of California; www.scdfc.org; (310) 693-0247. Offers education, screening and counseling for those at risk of having children with sickle cell disease and other hemoglobin disorders or those already afflicted. They offer a summer camp retreat, community and family education, pain management seminars and other support programs.

--California Newborn Screening Program. Parents of infants identified with sickle cell trait, hemoglobin C trait and hemoglobin D trait can receive more information by calling the hemoglobin trait toll-free number at (866) 954-2229.

- E.E.

Source: Daily News; Los Angeles, Calif.

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