Doctor Guilt?

By Everett Winslow Winslow Lovrien

Brent admired the chimpanzee he sketched at the zoo. He regarded the animal as contemplative. He was unaware that similar animals in the wilds of Africa were the source of a virus that would lead to his death from AIDS. Brent became infected with HIV from the medicine he infused to treat his hemophilia.
At six months of age, his parents were alarmed when they discovered bruises on his chest which led to the discovery of hemophilia. From that moment forward, he received frequent intravenous infusions of concentrate to treat recurrent bleeding episodes. Infusions of the medicine relieved pain and suffering from bleeding. His life seemed normal. Unexpectedly, Brent's life changed after the discovery of HIV contamination of the medicine.
The medicine was manufactured from the plasma of paid blood donors. Unbeknownst to Brent, the plasma was polluted with HIV. The SIV in chimpanzees changed to become HIV in humans. But the chimpanzees were not the cause of the transfer of SIV in animals to HIV in humans. The change from SIV in animals to HIV in humans was the result of human activity. The change came about with the production of the hepatitis B vaccine.
Who was responsible for the pollution of the hemophilia medicine with HIV and hepatitis viruses? Was Brents death preventable?

• Language: English
• Publisher: iUniverse
• Release date: Aug 26, 2010
• ISBN: 9781450216838

Everett Winslow Winslow Lovrien

After finishing medical school, Everett Winslow Lovrien, MD completed specialty training in pediatrics and the new field of medicine, medical genetics. For twenty-eight years, he was on staff at a clinic that supervised the medical care of a genetic disorder, hemophilia. This book is based upon his experiences. Now retired, he lives Oregon.

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Copyright © 2010 Everett Winslow Lovrien, M.D.

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ISBN: 978-1-4502-1682-1 (sc)

ISBN: 978-1-4502-1684-5 (dj)

ISBN: 978-1-4502-1683-8 (ebk)

Library of Congress Control Number: 2010906298

Printed in the United States of America

iUniverse rev. date: 08/23/2010

Contents

Acknowledgments

Preface

Introduction

In the Beginning

Signs and Symptoms of Hemophilia

Hemophilia in the McCann Family

Accountability and Eligibility

New Treatment for Hemophilia

Nature of Bleeds

The Hemophilia Treatment Center

Cost of Hemophilia Care

Accepting Hemophilia

as Part of Normal Living

Moving

Something Is Wrong with the Concentrate

First Sign of a New Disease:

Stories about the Arrival of AIDS

Hemophilia Summer Camp

1987: Brent Faces a New Test

Providing a Safer Product

in the Wake of HIV

System Failures

Treating AIDS

A Safer AHF Concentrate

Please Help Me!

Pentamidine: I Hate That Stuff!

An Old Blue Piano

On Trial in Alaska

A Girl with Hemophilia

Infectious Diseases in Humans Originated in Animals

Prevention of HIV and Hepatitis

Signs and Symptoms of AIDS in Brent

Making Big Bucks

Empowerment

Why Me?

A Cure for Hemophilia

through Genetic Engineering

A Birthday Party for Brent

Two Brothers with

Hemophilia and HIV

AIDS in School

Federal Response to HIV

Carmelita’s Response to the Community’s Reaction to

Her Sons’ HIV Infections

David’s and Peter’s Last Days

Brent’s Final Days

Who Was Responsible?

Afterword

References Cited and

Sources of Information

Appendix I: To Be Remembered

Appendix II: Hemophilia in

Queen Victoria’s Family

Acknowledgments

Many persons helped with this story. The assistance from families who were saddened by the loss of their son—or sons—or their father, their husband, or friend brought this tale together. Jim and Esther McAlpine provided information and photographs. Jim and Marjorie McAllister provided useful comments and a valuable perspective. Dave and Sharon Gibson graciously recounted events for this book. Nora Warren helped bring the events together. Carmelita Witbeck Perez supplied details of the school life of the two sons she lost. Wayne and Louise Cobb provided encouragement and a photograph. Linda Charles encouraged this writing and furnished information for the text. The Roseburg newspaper, the News-Review , was the source of a great amount of information. Jan Crider provided significant information and encouragement. Support is gratefully acknowledged from the Child Development and Rehabilitation Center. Help from the Oregon Hemophilia Treatment Center is acknowledged, especially from Patti Adams, Dave Oleson, Tammy Vogel, Robi Ingram, Monica Kraus, Jan Goldman, Alice Sprague, and Thallia. I also received inspiration from Dr. Lawrence Wolff, Dr. Scott Goodnight, Dr. David Noall, Dr. Robert Pittenger, Dr. Fred Ey, Dr. Dick Zimmerman, and Dr. Chuck Fagan. I appreciate the encouragement from Fred Adams and Dr. Vic Menashe as well as the support from Jerry Elder and Chuck Carter. The support from Dr. Art Thompson was important. Mary Jane Webb provided welcome assistance in Idaho. I acknowledge with appreciation the help and advice received from Dr. Dave Spence and Dr. Dale Webb in Alaska. I am grateful for approaches to judicial issues arising from the dilemma of HIV and hemophilia offered by John McCulloch and Rod Norton.

Every life has a story. All the persons who were part of the treatment center—patients, their families, and staff, as well as the Hemophilia Foundation of Oregon—though their names may not appear in this writing, are gratefully acknowledged and will not be forgotten.

The encouragement, patience, support, and professionalism from the editors at iUniverse have been inspirational for me as a first-time author.

I am grateful to Vicki Menard, editor of the Roseburg newspaper, for permission to quote and cite articles discussing HIV in the school.

Steven Paul Taylor inspired completion of this writing. Without his example and the encouragement from the supportive book discussion group he assembled, including Marci Taylor, Stacy Thomas, Nick Thomas, Seth Irish, and Pierrette Lovrien, I would not have achieved the finishing stroke.

The love received from my family, especially from my wife and children, has sustained me during the time this project came to life.

E. W. Lovrien

To those persons who had hemophilia and were infected with HIV or hepatitis while attending the Oregon Hemophilia Treatment Center, became ill, and died

Preface

Persons affected by medical disorders are confronted with the risks of their treatment. To weigh risks compared to expected benefits, they rely on their doctors’ recommendations. Doctors make recommendations based upon accepted standards of medical care. When new therapy becomes available for a medical condition that previously had no satisfactory treatment, doctors often prescribe the medicine, hoping to relieve suffering, prevent complications and deformity, and to prevent fatalities. Rarely, but sometimes, the effectiveness of the medical recommendations from the doctors is nullified by unanticipated events that diminish the benefits and increase the harm caused by the treatment. The doctors and their patients are forced to choose between accepting the hazards without treatment and accepting the harmful aspects of a new medicine. They do not always accept the new medicine.

A medicine became available in the 1970s for the treatment of recurrent bleeding episodes in persons affected by hemophilia. The new medicine was regarded as miraculous for its potential to end suffering and prolong life. After the new miracle medicine was introduced, it was discovered that the medicine was polluted with hepatitis viruses and HIV, the virus that causes AIDS. The medical professionals working at the Oregon Hemophilia Treatment Center, which provided care and prescribed the new medicine, were devastated when they discovered the harmful side effects of their treatment.

This book includes the story of a young person named Brent, who died of AIDS when he was seventeen years of age. Brent was born with a medical condition that never went away during his short life, requiring repeated medical treatment. Brent received contaminated medicine at a hemophilia treatment center.

The events in this story do not take place in the dark old days. The setting is during the times of modern medicine in the 1980s and 1990s. Events in Brent’s life are set down as he would have described them if he had lived a few more years. Experiences related are real, although exact conversations, Brent’s intimate thoughts, dates, places and details of events are not completely factual. Some names of places and living persons have been changed.

Through his treatment, Brent met other youths and men, not exactly like him, but who had the same medical disorder and required similar medical care. He met men and boys in the clinic where he was cared for—as well as at summer camp. Some of the events in their lives are also described in this story. He also met medical doctors, nurses, physical therapists, social workers, and a list of persons who served him in the clinic. Brent had a close family and loving relatives.

The medical condition Brent lived with, hemophilia, was treatable but not curable, and it required frequent infusions of medicine into his veins. Modern treatment with a revolutionary medicine brightened his life. But the medicine he received for treatment also led to his early death. By the time of the discovery of HIV tainting the medicine, Brent was already infected. Even though the doctors and the manufacturers of the medicine suspected a threatening virus, use of the medicine continued. The decision to continue using polluted medicine was made by the family as well as the doctor.

The families and doctors faced a dilemma—the threat of a life-endangering bleed if the medicine was withheld … or infection with a mysterious lethal virus if the medicine was infused into their veins.

Although he didn’t live to see manhood, Brent matured from infancy and childhood constantly challenged by his medical disorder. Despite the heavy burden of medical complications from his treatment, he was always a cheerful, positive youth; however, he was skeptical and questioned decisions and procedures that affected him. Brent died at a young age, which is sad, but his life was not filled with sadness even though he consciously faced death. There were agonizing, painful days of suffering in Brent’s life, from recurrent bleeds and the misery of the complications of AIDS, but the joyous moments dwarfed them. He chose a bright path to recognize the meaning of his life.

Brent wondered why the medicine he required led him to disaster rather than the longevity he had been promised. It came down to using a medicine that relieved suffering, helping him get through each day, but was polluted with deadly viruses that would overcome him and possibly result in death, or being safe and suffering from his medical condition, accepting the risks of not getting treatment.

Toward the end of his life, Brent became ill after using the medicine. The other persons he had met with hemophilia also became ill. By the time he questioned the merits of the medicine, he was already poisoned. It was too late once the harm of the medicine was discovered.

Brent was aware that he would die by his sixteenth birthday. Before he and all the others he knew died, they wondered why the doctors gave them medicine that led to suffering and an agonizing death rather than to good health and wellness. Following the discovery of HIV contamination of the medicine used to treat hemophilia in 1983, nearly one-half of males affected with hemophilia in the USA died of hepatitis or AIDS. How did this happen?

Families who lost a person to hepatitis or AIDS have been revisited to obtain their impressions, which are recorded in this book. They were asked whether the doctors who treated their sons were guilty of giving them medicine that led to their deaths. The survivors who related their impressions of the dynamics that resulted in the pollution of the hemophilia medicine with the virus that causes AIDS were nearly unanimous. They wanted their voices heard. Although the families acknowledged that the drug companies had produced a miraculous medicine, they maintained that the disaster was the result of the practices of the pharmaceutical manufacturers of the hemophilia medicine. Parents, wives, and daughters of hemophilia persons who died of AIDS or liver failure want their opinions to be known—that the deaths of their loved ones could have been prevented.

Doctors are the responsible directors of their patients’ medical care. Although the doctors were unaware that the medicine was contaminated, shouldn’t they have known? Rather than accept the word of the pharmaceutical manufacturers, wasn’t a demand for greater safety in order? Were the doctors guilty of allowing harm to befall their patients, or were they only wrong because of their lack of knowledge?

Most readers of this book will never meet anyone who has hemophilia. Yet readers should care what happened when hepatitis and HIV claimed the lives of thousands of boys and men all over the world. Modern medicine is not without risks. Because of human nature, regulations and safeguards are necessary to control actions of a few who affect the lives of many.

Introduction

This book was written to commemorate the many young boys and men who died from AIDS after being treated for hemophilia. The purpose of writing this book is to stimulate discussion of the circumstances and events that doomed hemophilia patients to death from hepatitis and AIDS. It explores the intricacies of life, human nature, and medicine. This book is intended for the general reader, to make him aware of the difficulties in balancing new treatments against the possibilities of future serious or fatal complications.

It is about boys and men, but it is also about women—the mothers, spouses, sisters, and daughters of those men and boys. Some males inherited a medical disorder from their mothers. Although the origin of their medical disorder is from their mothers, their mothers are not to blame. Humans are part of nature. Nature’s way of altering living things sometimes appears unreasonable. Things happen.

In the past, children born with hemophilia usually died during childhood or as young adults. And while they were alive, they suffered from pain and became disabled from recurrent bleeding into their joints.

During the last quarter of the previous century, a treatment was developed to relieve pain and suffering and prevent deformity in persons born with hemophilia. With this new method of treatment, it was hoped that the young boys would not die early in their lives—instead, by using the medicine, they would grow to adulthood to become men with near-normal life spans … with lives free from pain and disability. During the 1970s and 1980s, the new medicine for treatment of hemophilia, AHF¹ concentrate, became available in the Western world, North America, Australia, parts of Europe, and some countries in South America. The new concentrate to treat hemophilia dramatically changed the lives of affected males living within advantaged countries, for the better.

In the beginning of this new era in hemophilia treatment, concentrate was produced as a derivative of blood obtained from paid donors. In recent years, medicine for treating hemophilia has been manufactured by genetic methods, without blood as its source. Before the methods to produce the medicine without using blood were developed, over a period of twenty years, thousands of males who had hemophilia were infused with the blood derivative. The blood-derived AHF concentrate had a great impact, relieving suffering and preventing premature deaths. Lives in the world of hemophilia were sailing along smoothly in the 1970s and beginning of the 1980s.

But nature changed all that with the discovery that the concentrate was contaminated with viruses. The hepatitis virus and HIV,² the virus that causes AIDS, were lurking in the concentrate derived from blood. Regarding the hepatitis virus, doctors were aware of its presence in the concentrate made from blood. They assumed that all persons infused with concentrate would become infected with the hepatitis virus. But they also assumed that the fate of a person affected with hemophilia was doomed without the medicine. The risks of the medicine were overshadowed by the benefits of the treatment. Doctors believed that illness caused by hepatitis was less serious than the risk of a bleed into the brain if treatment was avoided. Aware that the medicine was contaminated with live hepatitis virus, patients and doctors agreed that the best action to relieve pain and prevent disability and premature death was to treat bleeding episodes with infusions of concentrate.

In the case of hepatitis, doctors knowingly gave the virus to males with hemophilia when infusing them with concentrate. In the case of HIV, the doctors were unaware of its existence. By the time the virus was detected in concentrate, it was too late to prevent its devastating effect. Many males who were infused with concentrate, some over a period of ten or twenty years, were doomed to die of AIDS, a fate worse than hemophilia. The years of a miracle treatment for hemophilia had ended.

After the passage of years, time has revealed that the doctors were mistaken about the harmless presence of hepatitis. The hepatitis virus is not harmless. Doctors believed that the trade-off between hepatitis and untreated hemophilia was acceptable. Many of those men who were infused with polluted concentrate during the 1970s and 1980s, who did not die from AIDS, subsequently died from liver disease, including cancer of the liver and liver failure, an outcome of hepatitis.

The doctors were unaware of the virus that causes AIDS, a new illness, until it was too late. They did not knowingly give HIV virus to persons with hemophilia.

The world for persons born with hemophilia seemed so bright with the advent of the new concentrate to treat their recurrent bleeding episodes in the 1970s. A dark curtain unexpectedly descended upon their lives, at first from AIDS and subsequently liver failure and liver cancer, in the 1980s and 1990s. In the era of modern medicine, when treatment for a medical disorder was well established and accepted, if the treatment leads to disaster rather than the expected relief, shouldn’t there be some accountability? Were the doctors justified when they knowingly gave the hepatitis virus to their patients? Were they correct when they assumed the risks without treatment exceeded the hazards from their prescribed treatment utilizing hepatitis-contaminated medicine? Although the doctors did not know about AIDS and HIV contamination of the concentrate, should they have known? Doctors are not malicious. Doctors are supposed to prevent suffering and save lives. They did not knowingly infuse their patients with HIV; nevertheless, they did give them the virus that causes AIDS. Should the doctors be held accountable? Are they to blame for the hepatitis and AIDS that snuffed out the lives of thousands of persons who had hemophilia? The doctors knowingly gave their patients an old disease, hepatitis, and unknowingly a new disease, AIDS.

Prescribing the new miracle medicine for the treatment of recurrent bleeds of hemophilia by the doctors is only half the AIDS story. The other half of the story originates from the producers of the medicine, the pharmaceutical manufacturers. Revisiting families whose son or husband became a victim of AIDS or liver failure from hepatitis reveals a nearly unanimous sentiment that they wish to be expressed in this account. The wives and parents of those who died profess that the drug companies sacrificed safety for profitability. How could this happen, they wonder? Why wasn’t more regulation applied to assure the safety of the blood supply?

Why didn’t the drug companies who produced the medicine eliminate hepatitis viruses? If they would have purified concentrate to eliminate hepatitis, HIV would have also been eliminated. AIDS in hemophilia could have been prevented.

Were the doctors too complacent, the sharpness of their judgment blunted by financial support from the drug companies in the form of research funds, travel expenses, and discounts?

Another purpose of writing this book is to acknowledge all those who suffered from hemophilia and died from hepatitis or AIDS. Of those who received care where Brent did, nearly ninety persons who had hemophilia died from HIV or hepatitis-related illness.³ Some of their names are included in table 5. More than 10,000 persons who infused concentrate to treat hemophilia became infected with HIV in the United States. In one report (Chorba et al. 2001), 4,781 deaths occurred in those affected by hemophilia during a ten-year period. The cause of deaths was HIV related in 2,254 persons (47 percent). Many persons believe those losses were avoidable and could have been prevented.

Those whose lives were ended after using concentrate are entitled to the dignity and respect that all humans deserve. They suffered and died not because of their own doing; they were innocent. They were grand people. Let us love them rather than forget them.

E. W. Lovrien

Fairview, Oregon

Part I

Brent’s Early Years

In the Beginning

Brent was born in Spokane, a town nestled within the most eastern part of northeastern Washington, over in a corner, distant from most of Washington, as well as away from the main part of the United States. Spokane is larger than a town; it is a small city.

Gwyn Margaret McCann, Brent’s mother, born August 18, 1946, was an attractive twenty-nine-year-old woman. She was not a native of Spokane. She was the second oldest of four beautiful sisters, preacher’s kids, no brothers, born to a Canadian Protestant minister and his attractive Detroit wife. The family moved from Detroit to San Diego, California, where Gwyn’s father served his church.

Brent’s lovely mother became a college student at San Diego State College where her handsome professor turned her pretty head. They fell in love, which culminated in a trip to the altar. After they married, Gwyn and her husband moved to Spokane, where he accepted a faculty position in the Modern Language Department of Gonzaga College. Brent’s oldest sister, Paula, was born in Spokane on Thanksgiving Day in 1969, before Brent’s mother discovered that her husband no longer wished to be married to her. She and her first husband divorced, although they continued to remain amicable.

Gwyn married another man, a dynamic twenty-nine-year-old Spokanite: Leland Hubert Perry. With Lee, Brent’s mom had a second child, Colette, who was born in 1971. His mom and dad and two sisters lived in a cute little one-story brick house at West 2905 32nd Street in Spokane. Not far away from the house, in the early morning hours, Brent came into this world at 10:24 AM on October 4, 1975, in Sacred Heart Hospital, Spokane, Washington. His first view of the world outside his mother’s womb was in the hospital where his life began. Like many of us, his life did not end in the same hospital, or the same city, or even in the same state where he was born.

Preceding Brent’s birth, Gwyn’s older sister, Louise McCann Carson, gave birth to an infant son who was born with hydrocephalus, a birth defect presenting with an abnormally large head. Hemophilia was not suspected at the time of his birth, and no tests were completed. However, it is possible that the cause for the child’s large head was an undiagnosed bleed inside his skull. In 1962, he died at six months. A second son was born to Gwyn’s sister, a normal child. Eight years before Brent’s birth, a third child was born to the same sister, Louise, in 1967, a baby boy, Brent’s cousin, Bill Carson, who was circumcised and almost bled to death a few days later. Tests completed in California, where the family lived, revealed that the baby boy had hemophilia. There had been no ancestors with bleeding tendencies in the family. He was the first case of the bleeding disorder in the McCann sisters’ family. Everyone in the family was tested to identify carriers of hemophilia—who would be at risk of giving birth to another male infant—by obtaining blood samples that were sent to Johns Hopkins Medical Center for analysis. The 1967 test results were normal for the mother of the infant born with hemophilia, her three sisters, her mother, and her grandmother.

They were informed that they were not carriers of hemophilia. If they had sons, they were told, none would be affected with hemophilia. The family assumed the birth of an infant male with hemophilia to one of the sisters was an instance of a new mutation, and hemophilia was not inherited in the family. Gwyn thought she was off the hook if she were to have a son—he would not have hemophilia. Even though Gwyn was informed that she was not a carrier of hemophilia, she wasn’t completely confident of the test results.⁴ When Gwyn and her husband moved away from her family in Santa Barbara, she did not know that she was a carrier of hemophilia. Gwyn became pregnant for the third time. Again, she was told she was not a carrier and not at risk for having a son with hemophilia, as her sister had before her. At six months of gestation, Johns Hopkins Hospital notified her, reporting that the tests previously completed were not reliable. A new method of testing for carriers of hemophilia, which was more accurate, had become available. However, she was already far along in her pregnancy.

Brent, the third child, her first son, was born headfirst. And it was fast, his mother proclaimed. There were no abnormal signs of bleeding at birth, no scalp hematomas, and no bruises.

Birth is a rough trip. During birth, the infant’s head is squished against the inside of the hard bones of the mother’s pelvis. The arms and legs, shoulders, and hips are twisted and squeezed, and yet the slippery baby usually emerges unscathed, a miracle of nature.

Why don’t all infant boys who have severe hemophilia bleed during their birth? Some mothers believe their blood protects their babies from bleeding, and some doctors let the mothers continue to harbor their maternal protective beneficial beliefs because it makes them feel better, even if the mother’s impression is incorrect.

Brent did not bleed excessively after a heel stick to collect newborn blood samples. This test is accomplished by jabbing the point of a sharp blade into the soft skin of a newborn’s heel, followed by squeezing the baby’s foot until blood flows from the wound.

Before Brent went home from the hospital, the doctor examined him. He proclaimed that Brent was a healthy, normal little boy. Brent opened his eyes. He moved his arms, legs, fingers, and toes; he had a robust cry. His testicles were descended. Gwyn remembered that she had a nephew, her sister’s son, Bill Carson, who was a bleeder. He had hemophilia. He was Brent’s maternal cousin. She decided not to have her son circumcised.

One way to find out if Brent would manifest signs of abnormal bleeding, to discover if he had hemophilia similar to his maternal cousin, would be a simple test: snip off the foreskin of his little penis and see if he bled afterward, the test of circumcision. But such a test is not without hazard. There is risk of uncontrollable bleeding afterward. Circumcision is not an accurate procedure to establish the diagnosis of hemophilia. Nearly one-third of the infant males who have hemophilia and have been circumcised, their unsuspecting parents unaware of hemophilia⁵ at their son’s birth, have not bled following circumcision.⁶ A preferable test to establish whether Brent would develop signs of abnormal bleeding from hemophilia would be to complete a test after obtaining a sample of blood from one of his veins. However, obtaining a blood sample from the tiny vein of a newborn is not an easy task. To diagnose hemophilia, by measuring the clotting activity of blood to determine the amount of antihemophilia factor (AHF), special care must be exercised when obtaining the sample. A free-flowing blood sample must be collected without contamination from tissue juices. The collected blood sample must be promptly processed and sent to a laboratory that is experienced in testing for AHF. The type of hemophilia that affected Brent’s cousin was type A, the result of a deficiency of AHF VIII in his blood. To determine if Brent had hemophilia type A, the laboratory must assay the factor VIII in his blood. Most hospital laboratories are not set up for AHF testing. A blood sample is usually sent to a reference laboratory for factor VIII assay when hemophilia is suspected. The most practical method for sampling a newborn’s blood for testing is by catching the blood from the umbilical cord after it has been severed from the infant. The umbilical blood sample is free-flowing, and the source of blood is from the infant, not the mother.

Gwyn had informed the doctor and the nurse before her son was born that her nephew was affected with hemophilia. She instructed them that if her expected baby was a male, he should not be circumcised because there was a chance that her son might have hemophilia even if there were no signs of bleeding at his birth. She also informed both the doctor and the nurse that if her infant was a male, a blood sample must be collected from the umbilical cord after it was severed from the baby for testing for hemophilia. Neither the doctor nor the nurse honored her request. No sample was collected from the umbilical cord of her newborn son. After her son was born, Gwyn did not know if he was affected with hemophilia or if he was free of the bleeding disorder that affected his older cousin.

The explanation for not following the mother’s request, for collecting a sample of umbilical cord blood at birth to be tested for hemophilia, remains unanswered. It is unlikely that the doctor and the nurse intentionally ignored the mother’s request. That would be unethical. More likely, the explanation had a logistical basis. For example, when a test for hemophilia is to be performed on a blood sample, a special test tube—a prothrombin tube—is necessary. The collected blood sample must be kept cold by placing it on ice and promptly processed for analysis. Conditions may not have been arranged prior to delivery since babies are not born at scheduled times.

Isn’t he cute? exclaimed Pierrette, a visitor friend of the mother, who came to the hospital to rejoice over the birth of the new baby. Doesn’t he look just like a little Buddha? The newly born little boy had a red round face and a serious countenance—if newborns can be serious. He was named Brent McCann Perry. Brent died at age seventeen in 1993, the result of an infectious disease.

Brent was fortunate to have been born when modern medicine facilitated treatment of his uncommon medical disorder, which predictably should have allowed him to live many years. Advances in medicine in Brent’s era were remarkable; however, the gains were polluted with havoc. How did this happen? Was this a mystery? Was this the way life was meant to be for some persons? The doctors who treat hemophilia were aware that pooling plasma from hundreds, sometimes thousands, of donors was risky. One contaminated donor would contaminate the entire large lot made from the pooled plasma. Yet they accepted medicine made from the pooled lot, reasoning that it was a trade-off, with the benefits outweighing the risks. Was it the impact of the doctor’s treatment that caused Brent’s death? Is the doctor guilty?

Discovery of Hemophilia in Spokane

On the second day of his life, Gwyn carefully carried her newly born son, swaddled in a blue baby blanket cozily tucked into an infant carrier basket, from the hospital where he first opened his eyes and made his first cry, to the little house on West 32nd Street. His father, Lee, and his two sisters—Paula, age six, and Colette, age four—were anxious to help take care of him.

The family did not know if Brent had hemophilia or if he did not. The opportunity to test for hemophilia with a sample of cord blood had been missed. Because of the difficulty of obtaining a free-flowing blood sample to test for hemophilia from his tiny veins, the doctor recommended waiting to see if signs of unusual bleeding appeared. If he was a few months older, the doctor reasoned, obtaining a blood sample for a test would be easier. Six months later, on the morning of April 2, 1976, Gwyn lifted her infant son from his crib. He was wide-awake. She kissed the top of his fuzzy head and then laid him down on the changing table. Oh, you are a good baby, she said to him as she unsnapped his flannel pajamas and pulled them off over his head.

Oh my God! Gwyn shrieked when she discovered extensive purple blotches discoloring her baby’s chest along the lower ribs, extending from the front to the sides of his chest. She rolled him over and noted that the marks were also on his back. She inspected them closely and thought they resembled bruises. He was not crying as if in pain. Come here quickly! Gwyn screamed at her husband. Look at your son. He’s all black and blue! Terrified, the parents wrapped their infant in a blanket and rushed to the doctor’s office in Spokane. On that April day, two days before Brent was six months of age, they recounted to the doctor that the day before their infant son had been pushing with his small stockinged feet while sitting in a jump-up swing that was suspended in the kitchen doorway, laughing while bouncing up and down.

After undressing and examining the infant, the doctor quietly declared that the purple discoloration of Brent’s little ribs in his chest did not resemble the nature of bleeding he expected to see if the baby had hemophilia. He told Gwyn that other possible causes may have produced the bruises. For example, he said, leukemia, a cancer of the blood, often first appears as bruises of the skin in infants. He also mentioned battered child syndrome⁷; however, the doctor did not infer that Gwyn or her husband had beaten their infant son. This unfortunate condition was newly recognized in pediatric circles and was on the tip of most pediatricians’ tongues.

The doctor successfully obtained a sample of blood from Brent’s little arm vein, which was processed and sent to a special laboratory to be tested for factor VIII, the clotting factor deficient in hemophilia type A. While the needle was still in place in the vein, after the blood sample had been withdrawn, the doctor infused Brent with concentrate, even though hemophilia had not been diagnosed. The unusual bleeding into his chest was suspicious enough to warrant the infusion, knowing that hemophilia was present in the infant’s male cousin.

Several days later, when the doctor received the report of the results of the blood test, he immediately called Gwyn to his office to notify her of the test results. He said he was surprised and dismayed when he discovered that he must report to Gwyn that her son had severe hemophilia, the same disorder that affected his eight-year-old cousin. The factor VIII in Brent’s blood was less than 1 percent of the normal amount, which established the diagnosis of severe hemophilia type A. Brent was given his first infusion of concentrate in 1976, in Spokane, to arrest bleeding in his chest.

From that moment on, for the rest of his life, although a normal child, Brent’s life would be different from those of other little boys. Gwyn was pleased that she did not know that her son was affected with hemophilia until he was six months of age. Some people refer to a person who has hemophilia as a hemophiliac, a word Gwyn detested. She did not want her child labeled. Her infant son was not a hemophiliac—he was Brent. The six months of not knowing he had hemophilia gave her a chance to bond with him. Not fearing for him, she had cared for him as a normal baby boy during those happy six months.⁸ Nature seems to feel that way too. Even infants who are born with severe hemophilia often do not bleed after birth. Sometimes no signs of bleeding appear for several months. In some instances, infant males born with hemophilia do not reveal signs of abnormal bleeding until they begin to crawl and walk, as late as one year of age.

Signs and Symptoms of Hemophilia

The signs and symptoms of hemophilia are the result of a deficiency of the blood to clot normally (Genetics Home Reference 2009). A person’s blood repeatedly circulates over and over again, confined to the inside of the blood vessels. The route of the circulating blood is a constant, endless, very long trip, night and day, year after year. And yet the blood does not leak from the tubes that allow it passage. If blood escapes from the tubes, that is called a hemorrhage. A common sign of a localized hemorrhage is a bruise, such as a black eye from a damaged blood vessel. After an injury or a ruptured blood vessel, blood escapes from the tubes into the tissues, where it decomposes and becomes discolored. Hemophilia families refer to hemorrhages as bleeds.

Why don’t bleeds occur more often in people who do not have bleeding disorders? If a person were to grasp a sharp knife and slash across the back of his hand, he usually would not bleed to death. His body is protected by three processes to prevent blood from leaking outside the blood vessels, a process referred to as hemostasis. After a blood vessel is severed or broken, the first thing that happens in hemostasis is the release of adrenalin by the tissue surrounding the blood vessel. Adrenalin produces an immediate contraction, vasoconstriction, shrinkage of the blood vessel. The second thing that occurs within a few seconds is the formation of a seal at the site of injury by platelets, which plug the rent in the blood vessel wall. Platelets circulate in the blood and are attracted to an injured blood vessel wall by the exposure of the tissues in the blood vessel wall. Third, and more slowly, fibrin is laid down into the platelet plug. Fibrin acts as cement to hold the platelet plug in place while healing occurs. However, if significant amounts of fibrin were constantly present in circulating blood, blood clots would form, and a stroke or heart attack would result from excessive clotting. To prevent unwanted clot formation, fibrin must be activated from its precursor condition before it can be laid down.

One of the precursors of fibrin formation is antihemophilia factor, or AHF. AHF is necessary to form an effective blood clot at the site of a blood vessel injury. A person who has hemophilia has a deficiency or a defective AHF. His platelet plug does not cement in place; it does not retract. It is soft and mushy rather than firm. After the platelet plug forms at the site of a damaged blood vessel in a person who has hemophilia, oozing slowly begins around the soft plug and continues at the injured site.

Hemostasis—the control of blood flow

1. Release of adrenalin at site of injury

2. Formation of a platelet plug

3. Deposition of fibrin in platelet plug

Persons who have hemophilia experience episodic, recurrent oozing of blood into their tissues. In cases of severe hemophilia, the bleeds may occur spontaneously, without noticeable preceding injury (Genetics Home Reference 2009). As a result of bleeding, serious complications occur, with damage to muscles, joints, internal organs, and even the brain.

The genes that control production of the clotting factors—AHF F8 and F9—are located on the X chromosome. The mutant hemophilia gene Xh is recessive to the normal gene XH. For a female to have hemophilia, both of her X chromosomes would need to carry the mutant gene.

Males have only one X chromosome, received from their mother, which is paired with a Y chromosome received from their father. Males who have the normal clotting factor gene are XHY. Males who inherit a mutant clotting factor gene from their mother are XhY. There is no hemophilia gene on the Y chromosome. As a result, when present, the recessive mutant hemophilia gene is expressed in males, resulting in hemophilia. Females who have a mutant hemophilia gene, XhXH, are hemophilia carriers without signs of hemophilia.⁹ They can transmit their mutant hemophilia gene to their daughters, who will also be carriers of hemophilia, or the daughters may receive the normal gene from their mothers and be noncarriers, XHXH. For men who have hemophilia, XhY, none of their sons will have hemophilia since they receive only