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The hospital’s Bleeding Disorders Program is an important resource for families and children.
KIDS FALL DOWN. It’s a fact of life. Scoop them up, kiss their boo-boos, send them on their way—unless the child has hemophilia, a rare disorder in which blood does not clot properly. Then all the rules change.
Just ask Andrea and Miguel Celis. Soon after their son was born, they discovered he had hemophilia. That means if he skins his knee, the flow will not stop on its own. So when 2-year-old Miguel Jr. hit his head last year, Andrea rushed him to a local hospital. A CT scan indicated no internal bleeding, and she breathed a sigh of relief.
A week later, the toddler began to vomit and walk erratically. Two clinic visits that day yielded vastly different diagnoses.
“He has an ear infection,” one pediatrician said.
“He has a stomach virus,” another physician said.
Hours later, Miguel’s condition deteriorated further. Again, the Celises rushed to the hospital. They learned that despite the results of the earlier CT scan, their son had a life-threatening hemorrhage in his brain.
“We need to do surgery now,” the doctor said.
THERE IS NO CURE for the inherited disorder known as hemophilia. Children like Miguel lack one of the essential enzymes necessary to make the blood clot. As a result, hemophilia patients may bleed for an extended time after injury or bleed internally, especially into the joints. Two-thirds of all cases of hemophilia occur when women carrying defective F8 or F9 genes pass the mutation along to their sons.
Approximately 1 in 4,000 to 5,000 males worldwide is born with the most common form of the disorder, hemophilia A. These boys lack sufficient amounts of clotting factor VIII for the blood to clot normally. About 1 in 20,000 boys worldwide lacks adequate levels of clotting factor IX, which results in hemophilia B.
An injury that might be minor for most people may be fatal to a child with hemophilia. Many hemophilia patients require regular transfusions of replacement clotting factor to prevent bleeding episodes. The physical and emotional toll of the disorder can be compounded by the financial burden of purchasing clotting factor: Care for a child with severe hemophilia can cost $200,000 to $400,000 per year.
Miguel is fortunate. At least twice a year, he and his family visit the hemophilia clinic at St. Jude Children’s Research Hospital. There, he receives the specialized care he requires to lead a normal life. The St. Jude Bleeding Disorders Program is an important resource for families and children affected by the disorder. Directed by Ulrike Reiss, MD, the facility currently treats about 310 children, 70 of whom have hemophilia. The program is in the final steps of the approval process for becoming a Hemophilia Treatment Center (HTC) by the federal government. As one of 140 HTCs nationwide, the St. Jude facility will be eligible to participate in a federal drug pricing program that Reiss says may save the institution $1 million per year on the purchase of clotting factors.
St. Jude hemophilia patients also have access to the latest clinical trials, including a study evaluating the extent of joint disease in hemophilia patients and the safety of the nation’s blood supply.
Another study explores the use of gene therapy for hemophilia B. Principal investigator of the gene therapy trial is Arthur Nienhuis, MD, of St. Jude Hematology. The approach was developed at St. Jude by Andrew Davidoff, MD, Surgery chair; John Gray of Hematology; and Amit Nathwani, MD, PhD, formerly a visiting scientist in St. Jude Hematology and now at University College, London. The treatment involves inserting the gene for the factor IX protein into liver cells by a one-time peripheral vein infusion. The goal is to restore blood-clotting function and eliminate the need for frequent infusions of factor IX for bleeding.
VIGILANCE IS CRUCIAL for kids who suffer from hemophilia, a complex disease that can have serious complications.
“In children with hemophilia, bleeds can happen with injury, but they can also just happen spontaneously,” Reiss explains. “Bleeding frequently occurs in the joints, such as ankles, knees and elbows, because they’re exposed to pressure and injury.”
Bleeding into a joint can set off a vicious cycle of swelling, pain and chronic inflammation that, in turn, leads to more bleeding. If unchecked, the result can be severe joint damage and a crippling arthritis in which patients have severely contracted joints. “It can happen quickly—without treatment, even 6- or 8-year-olds can have knees contracted at 90 degree angles,” Reiss says.
Another serious complication of hemophilia is intracranial bleeds. A brain hemorrhage can result in debilitation or death. Miguel underwent two brain surgeries after his injury.
“At first, we thought he was going to die or be in a permanent coma,” Andrea recalls. “Then we thought he might never walk or talk again. But he recovered quickly. It was a miracle. He’s the same Miguel—he’s perfect!”
A MULTIDISCIPLINARY team of experienced staff at St. Jude provides the comprehensive care Miguel needs to manage his disease and prevent long-term complications.
Using a holistic approach, St. Jude helps each patient and family deal with the physical, emotional, psychological, educational and other issues associated with a hemophilia diagnosis. Hematologists, nurses and nutritionists implement a treatment plan, coordinate care and train parents in administering drugs and monitoring the child’s health. A social worker provides a variety of services that include accessing community resources. Physical therapists provide preventive, rehabilitative and adaptive care. A teacher from the hospital’s school program serves as a liaison with the child’s school or educates the patient’s teachers and classmates about hemophilia. A Child Life specialist uses age-appropriate techniques to minimize stress and anxiety for the patient and siblings. A genetic educator helps families understand the inheritance patterns of hemophilia. Dental, gynecological and orthopedic services are also available, depending on the patient’s specific needs.
“Whenever I have a problem or a question, I call St. Jude, and they help me immediately,” says Andrea, who administers clotting factor to her son to prevent bleeding episodes.
Now an active 3-year-old, Miguel leads a normal life. He runs on the playground, pedals riding toys and chases his older sister, Fatima. “When I tell people he has hemophilia, they say, ‘No! No, it’s impossible,’” Andrea says.
The dark anguish of brain trauma now a distant memory, Andrea envisions a bright future for Miguel.
“I am very thankful,” she says. “For me, he was born twice. I love him more and more and more each day. I know that he is special. He is living for a special reason.”
Reprinted from Promise Autumn 2010