Tag Archives: hemophilia

The Meaning of Life

How does a sixteen-year-old boy react when he is told he has less than a year to live? When Brent developed pneumocyistis pneumonia, a complication of AIDS as a result of HIV infection from contaminated AHF he had infused many times to treat hemophilia, his doctor soberly told him that at most, he had a year to live.

Brent became discouraged and told his mother that maybe his life was not meant to have any meaning. Hemophilia was not too bad, he could live with it, but AIDS was a death sentence.  His mother responded saying to him that what keeps people going when confronted with hopelessness is the recognition of the meaning of their lives. The meaning of his life was more than making him happy.  It was about making her and his family happy. She reminded him that his life had contributed a great amount of pleasure and happiness to others.

Brent responded by suddenly quitting school when a meeting was scheduled with the high school principal and teachers to inform them that one of their students, Brent, was infected with HIV.  Rather than surrendering and let them expel him from school, when they learned that he was HIV infected, he would choose his own destiny.  He could not choose the circumstances or conditions of his life but he could choose how he reacted to them. He discovered that his life had meaning and he would choose his own existence. During his short life he had enriched the lives of his family and others. He chose to be upbeat rather than downbeat. Recognition of the meaning of his life empowered him.


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Hemophilia 101: What is it, and How is it Treated?

What is Hemophilia?

Persons affected by hemophilia have a disturbance in their blood coagulation. Blood circulates many many times in its endless course through a person’s blood vessels without leaking. Damage to a blood vessel may result from a noticeable injury such as a twisted ankle, or even an unnoticeable event such as bumping into the corner of a table.

Bleeding episodes in hemophilia are recurrent, as often as every three or four days, with many persons experiencing more than 1,000 hemorrhages during childhood and adulthood.

When a blood vessel is damaged, allowing blood to escape, a person’s body reacts in three different ways:

  1. First, adrenalin is released by the presence of injured tissue producing vasoconstriction (that restricts the flow of blood in the injured blood vessel).
  2. Secondly, platelets from the blood stream are attracted to the site of injury in the blood vessel wall. The platelets form a plug to stop the bleeding.
  3. Thirdly, fibrin is laid down in the platelet plug to give it strength and allow the plug to retract promoting healing to take place. In a person who has hemophilia, the third step–fibrin cementing of the platelet plug–is deficient. As a result, the platelet plug that forms does not solidify; it is mushy. Oozing of blood continues sometimes for days that may be visible as a bruise or a painful hemorrhage referred to as a bleed by persons who have hemophilia.

Fibrin does not circulate normally in blood. If it was always present, an undesirable blood clot might form resulting in a stroke or heart attack.   Fibrin requires activation from its precursor, fibrinogen, by another blood protein, thrombin. And thrombin must be activated from its precursor, prothrombin. Two of the proteins that activate prothrombin are Factor VIII and Factor IX.  In the most common type of hemophilia, Hemophilia A, Factor VIII is deficient. In persons who have Hemophilia B, Factor IX is deficient.  The antihemophilia factors , AHF, activate prothrombin to form thrombin that activates fibrinogen to fibrin during blood coagulation to form a firm platelet plug while healing takes place in the injured blood vessel wall.

Persons who have Hemophilia A and Hemophilia B have a mutation in their Factor VIII or Factor IX gene. Both genes are on the X chromosome. Several different mutations in both genes have been described.  Although multiple molecular defects have been discovered, they all have nearly the same medical effect.  The most common hemophilia mutation, intron 22 inversion, accounts for one-half of Factor VIII deficiency.

Hemophilia Facts:

  • In the USA, approximately 400 babies are born each year that have hemophilia with a frequency at birth of 1 in 7,500 newborn males.
  • One-third of newborn babies with hemophilia are the first instances in their family. However, the mothers of such infants may be carriers of hemophilia by receiving mutant sperms from their non-hemophilic fathers when they were conceived.
  • Hemophilia nearly always occurs in males and is present in all countries and ethnic groups.  Males who marry and have children will transmit their mutant hemophilia gene to all of their daughters and none of their sons.

Hemophilia Treatment

Prior to 1960, life expectancy for a person born with hemophilia in the USA was eleven years.

The most common life threatening hemorrhage was an intracerebral bleed. Those who survived severe hemophilia suffered and were disabled from recurrent joint bleeds. During childhood, recurrent bleeding episodes were sometimes as frequent as several times each week. With advances in Factor VIII  and Factor IX AHF replacement treatment, painful suffering and life threatening hemorrhages in hemophilia have been greatly diminished.

Following the turmoil in hemophilia treatment caused by HIV infection and death from AIDS,  improved AHF from plasma-derived Factor VIII and recombinant Factor VIII and Factor IX is restoring life expectancy toward normal and minimizing agony and suffering from recurrent hemorrhages in countries of high income where a method of payment for AHF exists.  With replacement AHF, persons with hemophilia are able to attend school without bleeds interfering with their attendance, attain dental care, and even withstand surgery.  They can become productive adults with the security of employment. Marriage and having a family are attainable.

Hemophilia will never disappear.  There will always be new mutations as part of human nature. But there may be a cure someday, more than just treatment, with the further refinement of gene transfer.  Hemophilia will probably be one of the first genetic disorders to be cured with gene transfer.

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‘Doctor Guilt?’ Excerpt: Home Infusion Therapy

This excerpt is from Doctor Guilt?, pg. 250. These remarks are from Dick Wagner:

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Hemophilia Heroes: Inspirational Patients

David and Peter Witbeck faced life-threatening illness, painful procedures and discrimination, but left a lasting legacy in their community

The shocking discovery of hemophilia in David Witbeck followed circumcision in 1975. His mother, Carmelita, practiced inserting a needle into a ripe orange to acquire the necessary skill to infuse him intravenously with medicine to treat his recurrent bleeding episodes. A brother, Peter, was born three years later in 1978 who also had hemophilia.

Carmelita brought her two  young sons and their infant sister 200 miles to our clinic on a greyhound bus, to learn how to care for them in the small logging town in the mountains where they lived in a little house with a dirt driveway. The painful repeated bleeding episodes were relieved by their mother’s infusions of medicine. The mother sold her piano to help pay for medical expenses.

In 1985, when the brothers were ages ten and seven, tests revealed that they had become infected with HIV from the medicine they had received. To be closer to a hospital where they could receive medical care, the family moved from the mountains into a larger town. However, their admission to the public school was opposed by the parents of other school children because of the fear of AIDS. To avoid stressful confrontation, the brothers and their family returned to their mountain community where they previously lived.

The two brothers died of AIDS, one day apart, the day after Christmas in 1992. David was seventeen; Peter was fourteen.

Their lives had a profound effect on their community.  Despite their many days of pain and illness, they never complained–although they suffered from two life-threatening medical burdens, hemophilia and AIDS. Their lives were a message of the importance of love.  The local newspaper and the little town where they lived in the mountains proclaimed them as heroes.

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Intracranial Bleeding in Children with Hemophilia: Cendie Wood’s Family Struggle

Anxiety and apprehension within a family that has experienced an intracranial bleed in their child is understandable. Cendie Wood’s guest blog on the Hemophilia Society of Colorado blog (http://cohemo.blogspot.com/2011/02/story-of-survival-cendie-woods-family.html) documents the dilemma facing parents and grandparents of a child with severe hemophilia. Head bleeds in hemophilia may occur outside the skull such as a scalp hematoma, or within the skull, an intracranial hemorrhage. Bleeding into the brain is one of the leading causes of death in hemophilia. The lifetime risk of intracranial hemorrhage in severe hemophilia before AHF replacement therapy became available, has been estimated at 2-10% with a mortality rate of 30%. One of the earliest reports of a head bleed was in Queen Victoria’s eighth child, Leopold. He died at age 31 in 1884 after he struck his head in a fall in Cannes, France.

Prophylactic infusions of AHF are intended to minimize the frequency of spontaneous intracranial hemorrhages in small children, such as Cendie Wood’s grandson, Brett, who have hemophilia. However, the instance will not be totally eliminated for intracranial hemorrhages are known to occur in persons who do not have a deficiency of clotting factors.  Hopefully her grandson, who will soon be three years of age, will be free of intracranial bleeds with regular AHF prophylactic replacement.

Recurrences of intracranial do occur in severe hemophilia. They may be located subdurally or intracerebrally. In my book, Doctor Guilt?, Roger a five-year-old boy who had severe hemophilia with an intracerebral hemorrhage is described. He was one of the first children to survive after receiving cryoprecipitate in 1965 while undergoing cranial surgery. The introduction of replacement therapy with cryoprecipitate in 1964 by Dr. Judith Pool at Stanford University was a remarkable event allowing survival of  head bleeds in hemophilia. Roger’s head bleed recurred and he underwent head surgery a second time. When his intracranial bleed recurred a third and a fourth time he was not returned to surgery but did receive cryoprecipitate AHF replacement therapy that allowed him to survive to adulthood.

With the support of the excellent and experienced hemophilia care in Denver by Doctor Marilyn Manco-Johnson and the Hemophilia Treatment Center staff, you should convert your energy from agony to optimism for a good life for your grandson. Good luck and enjoy your grandson, whom I hope will grow to become a strong, handsome boy to make his grandmother proud of him.

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When patients die, who’s to blame?

I was a farm boy from Iowa. While I was serving in Korea as a rifleman, I realized that I was eligible for the G.I. Bill, and decided that I would become a doctor.

After completing medical training, I was assigned as a temporary substitute for another doctor in a clinic that provided medical care for boys that had hemophilia.  The position developed into a full time appointment.

Hemophilia was a great medical disorder to treat as a physician.  The doctor could relieve suffering, prevent disability and prolong life with a new medicine that became available. It was like a magic medicine.  A guiding principle was to avoid causing harm to patients.

The magic new medicine unknowingly harbored lethal viruses: hepatitis and HIV. A new disease, AIDS emerged as aresult of infection from polluted medicine.   The patients that I treated developed liver disease, including cancer of the liver and AIDS. Ninety patients that I cared for died.

I felt devastated.  I felt guilty of causing harm. To the families they left behind to mourn, I had to say that I am sorry for causing harm.  The journey through the life of a boy I cared for from nine months of age–until he died at age 17 years–is recounted in Dr. Guilt?.  Some of the other persons he met are also described in this account.

When patients die, who's to blame?

Why I wrote this book:

AIDS could have been prevented in hemophilia. The families that lost a son or husband or brother or father blame the drug companies that made the medicine. They maintain that the drug companies sacrificed safety for profitability.  But the final responsibility of prescribing medicine rests with the doctor, not the drug company that made the medicine.

This book describes hemophilia, and the origin of AIDS. It discusses capitalism and free marketing in a society without cost controls.  Accountability for the deaths from AIDS is discussed.  It stresses the need for critical thinking and consideration for the hazards of medical treatment compared with the benefits. Sometimes when good events occur, bad things happen.

The impact of human activities is not always apparent at the time of their occurrence.   But most of all this book was written to tell the families that as a doctor, I and all the other doctors are sorry for causing harm.  We told the persons in this book to take the medicine and they would be relieved of suffering and live to become old men. Instead, they died from the medicine. If we were not guilty, we were certainly wrong.

After the patients died, I had bad dreams for several years.  I dreamed about those guys who died. Writing this book has helped me to overcome my sense of guilt.  But the persons who died were innocent.  Their story needs to be told so that they are not forgotten and the conditions that allowed this terrible tragedy to occur are never repeated.

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