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Photograph by Mark Kocina
Thomas Carine, 11, holds out his arm so his mother, Nina, can infuse him with recombinant factor 8, a synthetic protein that causes blood to clot.
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Red Scare
Sufferers of a rare blood disorder work and play despite the threatening condition
By Rebecca Ray
Thomas Carine loves to play baseball. He also shoots basketballs, scales walls, sails boats and plays flag football. His mother, Nina, says, the 11-year-old Saratoga native "lives and breathes" sports.Based on his active life, few would guess that Thomas has severe hemophilia. Individuals with severe hemophilia bleed spontaneously, usually into joints and soft tissues. If severe hemophiliacs are wounded, they can experience serious bleeding. A head wound can be life threatening.
Hemophiliacs don't bleed to death if they get minor scratches. But they do have problems with blood clotting. Hemophiliacs lack one of 13 proteins, or "factors," needed for blood to clot. Only about 20,000 individuals in the United States, and one in 10,000 individuals worldwide, have hemophilia.
Although hemophiliacs can lack any factor, 90 percent of them, including Thomas, lack factor 8. If one factor is missing, blood will pool instead of clot, and bones will deteriorate. Many hemophiliacs who were born at least 30 years ago are now either confined to wheelchairs or have had joints replaced.
But Thomas has experienced fewer complications than older hemophiliacs did as children. Thomas' parents infuse him with recombinant, or synthetic, factor 8, which scientists developed in 1992.
In the 1970s and 1980s, hemophiliacs infused themselves with factors that contained actual blood products. Unlike factors that contain real blood products, recombinant factors prevent joint complications and can be infused prophylactically to prevent bleeding.
Unlike factors that contain real blood products, recombinant factors are also free of all known diseases, said Dr. Bertil E. Glader, director of the hemophilia treatment care center at Lucile Packard Children's Hospital at Stanford University.
Some hemophiliacs who used factors that contained real blood products developed infections. Beginning in the early 1980s, some developed AIDS. By 1996, more than 4,000 hemophiliacs in the United States had contracted AIDS. More than two-thirds of them have died.
Thomas, on the other hand, has no infectious diseases. Doctors stopped testing him for AIDS once his parents began to infuse him with the recombinant factor.
"[If] you look at a population of severe hemophilia children today compared to 20 years ago, many of them look absolutely normal, no different from the other normal children, whereas 20 years ago, many had severe arthritic deformities," Glader said.
Like many adults with hemophilia, Kevin Finkle, 28, who grew up in Los Gatos, has arthritis in most of the joints where he's experienced bleeding, episodes more commonly referred to by sufferers as "bleeds." Because of his damaged knee, Kevin cannot fully extend his right leg.
But compared to most people his age, Kevin has done well, said his mother, Betty. Most of the time, he can walk without crutches and drive a car.
Like Thomas, Kevin is a severe hemophiliac and has less than one percent factor 8. Sixty percent of all hemophiliacs suffer from severe hemophilia.
Fifteen percent of hemophiliacs have moderate hemophilia. Although they bleed when injured, they do not bleed spontaneously. Mild hemophiliacs only bleed under significant trauma or surgery, such as when dentists extract their teeth. Patients with mild to moderate factor 8 deficiency can treat themselves with a nose spray.
Kevin was diagnosed with severe hemophilia at age 1. "It was quite a surprise, because ... there had been no known history of bleeding disorders in my family," Betty said.
Photograph by Mark Kocina
Thomas Carine, 11, watches as his mother, Nina, prepares to inject him with recombinant factor 8, a synthetic protein that causes blood to clot.
Hemophilia is inherited through the X chromosome of a person's DNA. Portions of DNA, called genes, determine specific traits.
Mothers who carry the hemophilia gene will transmit the disease to 50 percent of their sons and the carrier state to 50 percent of their daughters. Interestingly, carriers, who on average have 50 percent factor 8 or 9, often have no bleeding disorder. The average person has 50 to 150 percent factor 8. Severe hemophiliacs with factor 8 deficiency need 40 percent factor 8 for minor bleeds to heal, and 100 percent to heal major bleeds.
A male hemophiliac will transmit the carrier state to all his daughters, but won't transmit the disease to any of his sons.
Females usually acquire the disease itself, not just the carrier state, due to chromosome abnormalities. They can also develop the disease when their fathers are hemophiliacs and their mothers are carriers. Hemophilia also occurs in women who have a rare type of von Willebrand's disease, in which a protein fails to bind factor 8 and carry it through the body.
Although Betty is unsure whether she is a carrier, she and her husband, Elliot, decided not to have any more biological children. They adopted their second child, Amy, who is 23.
The Finkles moved to Los Gatos when Kevin was 2 years old, partly so they could be close to the hemophiliac treatment center at Stanford.
Hemophiliacs must receive treatment at centers, because most doctors have never encountered hemophiliacs and don't know how to diagnose or treat them. When Kevin was a baby, his lower teeth hit his upper gums, causing uncontrollable bleeding. Pediatricians said it was because he sucked on his pacifier too much.
Doctors also said the bruises on his body were from crawling and bumping into things and not having learned spatial orientation. They didn't think he needed to be tested for a bleeding disorder until Betty read about hemophilia and found that the description fit Kevin's symptoms.
Initially, Kevin's parents drove him to the center at Stanford every time he needed an infusion. Medical personnel would infuse him, since his veins were tiny and hard to find. Elliot and Betty began infusing Kevin at home when he was about 3. He learned how to infuse himself when he was about 8.
When Thomas was a toddler, his parents also drove him to the center every time he needed an infusion. Sometimes it was every day. Since Thomas was an active child, almost every fall was a bleed. Nina and her husband, Tom, always worried about Thomas' injuries not healing. They would wake in the middle of the night to measure his joints and bruises and see if the swelling had subsided.
Photograph by Mark Kocina
Nina Carine infuses her son, Thomas, before he leaves for Walden West Center, where he will climb walls, hike and do archery and a high ropes course.
When Kevin was a child, Betty and Elliot often worried about him developing AIDS and hepatitis. After AIDS was discovered, Betty and Elliot chose not to treat Kevin for a year, unless he had a serious bleed. Although this was against medical advice, "we didn't feel the risk of AIDS was worth it," Betty said. She added that she and Elliot felt they would rather see Kevin have a worse joint later on than die of AIDS. The Finkles knew other hemophiliacs who had died of AIDS.
Many times, when Betty and Elliot had treated Kevin for joint and tissue bleeds, he had not responded to treatment anyway and had still experienced pain and swelling, Betty said.
After Kevin's parents stopped treating him, his afflicted joints stayed swollen for a week or two, and he would stay off them, either by using a wheelchair or crutches. Eventually, the bleeding would stop. Betty and Elliot think Kevin stopped bleeding because he bled so much in the joint, which is a constricted area, that there was no more space for blood to go.
Kevin never developed AIDS. But he did contract hepatitis C. Doctors figured that infusions exposed him to the virus.
Kevin has not shown any symptoms of hepatitis C. He is discussing with doctors if he should start treatment now or wait for a better one. He is unsure how much damage the virus has done to his liver, since he is not a candidate for biopsy.
A biopsy involves removing cells from the liver to determine the extent to which the liver is damaged. Kevin cannot get a biopsy because he has developed a rare complication from hemophilia called an inhibitor. Because of the inhibitor, which is an antibody, Kevin's body neutralizes the factor 8 it receives and renders it ineffective. There is no adequate way to treat inhibitors, which are developed by 20 to 25 percent of hemophiliacs who lack factor 8. If Kevin was to get a biopsy, there would be no sure way to control the bleeding.
Photograph courtesy of the Finkle family
The Finkle family (clockwise from top left): Kevin; his father, Elliot; Kevin's mother, Betty; Kevin's grandmother, Anne; and Kevin's sister, Amy.
Doctors determined that Kevin had an inhibitor when he was 18 months old. No matter how much factor 8 he received, his mouth continued to bleed. Since then, the Finkles have tried other factors.
Recently, scientists developed recombinant factor NovoSeven, which Kevin said he feels has been the most reliable treatment for him so far. But the body absorbs and uses it after two hours. To control a bleed, Kevin may need to infuse himself four or five times a day. It would be impractical for him to treat himself prophylactically, unless he had a port inside his body that automatically infused him every two hours.
Betty said she thinks Kevin would have had fewer problems if he didn't have the inhibitor and could treat himself with factor 8. Although Kevin can go for a month without having a bleed, some bleeds cause him to be bedridden for two or three weeks. Fortunately, Kevin, who designs and maintains a website for a pharmaceutical company, can work from his home in Portland, Ore.
In the future, gene therapy might cure most hemophiliacs. But Betty doubts it would cure Kevin, since the inhibitor might rise to overwhelm the factor 8 his body produced.
No one knows why some hemophiliacs develop inhibitors, although doctors think some hemophiliacs may be predisposed to do so.
The inhibitor, Betty said, made her feel as though her family was a subgroup within the subgroup of families whose children were hemophiliacs. "I guess I was a little jealous that these other families were talking about pretreating and then letting their kids go out and ... do these sports, because they had it under their belt, and they knew that that would protect them from bleeding," she said. "But we were in a whole different category, not being able to protect our kids in that way, and also ... having to feel like they were more limited because of the inability to effectively treat their bleeding."
Photograph byMark Kocina
Nina Carine wraps her son Thomas' ankles every day to prevent 'bleeds' and increase the stability of his foot and ankle.
Kevin attended Saratoga Elementary, Redwood Middle and Saratoga High schools, which were, for the most part, accommodating, Betty said. Saratoga Elementary installed wheelchair ramps. When Kevin was on crutches, he spent recess in the library, and other children would stay inside and play with him.
Although other students often included him in activities, they had a hard time understanding his on-and-off use of crutches. When he was younger, he would tell them a dinosaur had bitten him. But when he got older, he and Betty would speak to his class at the beginning of the year about hemophilia and what needed to be done when he bled. Betty would also meet with the principal and nurse, give them written literature about hemophilia and tell them to call her if they had questions. Sometimes, Kevin missed so much school he needed tutors.
When Kevin wasn't treating a bleed, he swam in the Finkles' pool. Exercise is critical, Glader said, because it strengthens ligaments and muscles. The stronger a hemophiliac's muscles and joints are, the less likely he or she will bleed spontaneously, Nina Carine said.
Nina, her mother and her grandmother, who came from all-girl families, never knew the hemophilia gene was in their family until Thomas was born. Nina and Tom suspected Thomas had a clotting problem when his circumcision took much longer than usual to heal. Later, when he started to crawl, he got bruises with egg-sized lumps as hard as marbles.
Once doctors tested Thomas for hemophilia and the results came back positive, they sent him to a pediatric hematologist. The hematologist told the Carines to pad their rooms, cancel trips and keep Thomas inside. The Carines never thought Thomas could live a normal life.
But when the Carines had their first appointment with Glader, he suggested they make Thomas' life as normal as possible. And they listened. "We don't live our lives on stuff that he can't do," Nina said. "We live our lives on everything that he can do."
Last year, Thomas, who was a fifth-grader at Sacred Heart School, played baseball and basketball. He was also a receiver on the school's fifth-grade flag football team. This summer, he made the Saratoga Little League All-Star team, which often practiced more than two hours a day.
Because Thomas engages in so much physical activity, his joints and muscles are so strong that he never bleeds spontaneously like other severe hemophiliacs, Nina said. Also, with today's prophylactic treatments, hemophiliacs can do most physical activities, with the exception of heavy contact sports like football and boxing, Glader said.
Photograph courtesy of the Finkle family
Kevin Finkle plays the guitar at his home in Los Gatos during his late teen years. Kevin is now 28 and lives in Portland, Ore.
Doctors have differing opinions as to which physical activities are acceptable for hemophiliacs. Some might object to the Carines' decision to let Thomas play flag football. Although his teammates guarded him well and made sure no one hurt him, Nina said, she feared Dr. Glader would object. She didn't tell Glader about Thomas playing flag football until after the season.
Glader wouldn't say whether he approved of Thomas playing flag football. But he did say that if a hemophiliac engaged in an activity that did not involve heavy contact, and he or she did not experience a problem, then the activity could be continued. Glader added that if hemophiliacs are treated appropriately before bleeds, they are pretty well covered for eight hours.
Although Thomas had some joint bleeds during and after his flag football practices, he was fine 90 percent of the time, Nina said.
Coaches have been wonderful in accommodating Thomas' disease, Nina said. Whenever he has a bleed, he tells a coach, who then calls Nina. Once Nina arrives, she infuses Thomas, and he ices and elevates his injury.
When Thomas needs an infusion at school, which is about once a week, all he does is stand, and teachers send him to the office. But most of the time, he chooses to stay in school. Last year, he missed about 10 days, which is a lot fewer than most severe hemophiliacs, Nina said. When he chooses to stay at school after infusions, teachers and students move his desk so he can elevate his injury, and classmates change his ice packs.
The frequency with which hemophiliacs infuse themselves varies, according to Glader. While some infuse themselves twice a week, others do it four times a week.
Thomas, who has bled in almost every part of his body, might not bleed for a week, but then might have a bleed that lasts a day or two. If Thomas has an injured hip or twisted ankle, the Carines infuse him every 12 hours. When his baseball and basketball seasons overlap, Nina and Tom infuse him prophylactically, every other day.
But they can't afford to treat him prophylactically on a consistent basis. For someone Thomas' size, one infusion costs around $1,000. Major bleeds, which might need four infusions to heal, can cost up to $4,000 each time they are treated.
The recombinant product is expensive because there's a worldwide shortage of it. According to Glader, an adult with hemophilia pays $100,000 to $125,000 a year for treatments. Kevin has to find a job that offers a group insurance plan, since an individual plan would be too expensive.
Thomas Carine climbs a tower at Walden West Center in Saratoga.
Photograph by Mark Kocina
If a hemophiliac in the United States cannot afford treatment, state-funded programs cover the cost. In California, these are California Children's Services and the Genetically Handicapped Persons Program. They cover above and beyond what insurance companies or other programs will pay, Glader said.
The other 80 percent of the hemophiliacs in the world are less lucky. They receive no therapy and either become crippled or die from simple procedures like circumcision.
If Nina and Tom want to go somewhere, they either take Thomas with them, choose not to go or leave him with people who know how to infuse him. When the Carines go on trips, Tom and Nina said, they pack a duffel bag of needles, syringes, bandages, scissors and medicine that heals mouth bleeds. They also take a cooler for the factor 8 mixture.
But the Carines said they feel lucky that Thomas can use recombinant factor 8 and play most sports. Thomas said he enjoys sports because they keep him active, prevent him from turning into a couch potato and allow him to spend time with friends. Also, "I can be almost a normal kid," he said.
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Los Gatos, California Since 1881
