Living with haemophilia
In Ireland haemophilia is inextricably linked with the HIV and hepatitis C blood infection scandal of the 80s. The scale of the tragedy became evident when the majority of Irish haemophiliacs became infected with one or both viruses from infected blood products. Much of the coverage of the scandal and subsequent Tribunal of Inquiry focussed on the failures of health agencies rather on the condition itself.
Haemophilia is an inherited bleeding disorder that affects hundreds of males in Ireland and is probably the earliest recognised inherited illness in the world. It can be severe, moderate or mild in form.
Well over 2,000 years ago, Jewish rabbis referred to a bleeding condition that was fatal to young boys and ran in families. Such boys were exempted from being circumcised, in case they died from the procedure. Descriptions of an illness that caused young men to bleed to death also appeared in both Jewish and Arabic medical texts throughout the Middle Ages.
However, it was the nineteenth century before medicine properly identified the illness we now know as haemophilia. The term was first used by a Swiss doctor in 1828, but a quarter of a century earlier haemophilia had been accurately described in Philadelphia by a Dr John Otto. He had traced the history of a family back over 80 years to a single woman and was able to identify the fact that the illness was inherited. His 'Account of an haemorrhagic disposition existing in certain families' revealed that the bleeding disease was inherited through the female line, but affected only males.
In the years that followed, haemophilia became known as the 'Royal disease', because of its prevalence among the regal families of Europe in the nineteenth century. As most of the royal families were related, the gene passed from Queen Victoria, whose son Leopold had the illness, to the royal families of Spain and Russia, among others. It was the ability of the monk Rasputin to ease the bleeding of the haemophiliac Tsarevitch Alexei that gave him so much influence over the Russian court.
Alexei, the haemophiliac son of the last Russian Tsar.
However, even though the illness affected those at the highest echelons of society, it remained incurable. Young boys who had the illness could expect a lifespan of only 20 years. In fact, it was only during the last century that a treatment was developed that could allow haemophiliacs to live a normal life. With the development of blood transfusion, it became possible to isolate factors within human blood that aid clotting. It was known that haemophiliacs had difficulty with blood clotting, because of a lack of blood factor VIII or factor IX. These factors can now be isolated from donated blood, sterilised and given to haemophiliacs.
Today the illness affects between one in 5,000 and one in 7,000 males. While haemophilia has been known to afflict girls, it is an extremely rare occurrence. In the vast majority of cases, the illness runs in the family of the child who contracts the disease. Haemophilia takes two forms, both of which cause the same complex of symptoms related to an inability of the blood to clot successfully. Type A is the most common form, affecting over 80% of haemophiliacs and is caused by the body producing insufficient amounts of Factor VIII. A lack of Factor IX causes haemophilia B, also known as Christmas disease.
Both forms of the illness are almost always inherited through the maternal line. The defective gene is carried on the X chromosome of some women's DNA. As women have two X chromosomes (men have an X-Y combination) their other chromosome contains genes which carry the correct instructions for creating blood clotting factors. This is why women do not develop the illness. Unfortunately it also means that a woman may not know that she is a carrier of the gene until her son is diagnosed.
If a woman is a carrier, there is a one in four chance each time she becomes pregnant that she will give birth to a son with haemophilia. Because of this, in times past women would often hide any history of haemophilia in their family from prospective husbands. A stigma grew up around the disease which has taken a long time to remove.
In some ways, new stigmas have taken place of the old. While no one refers to people with haemophilia or Von Willebrand's disease as 'bleeders' any more, many haemophiliacs now have to deal with the stigma that surrounds HIV and AIDS. As one in three cases of haemophilia occur as the result of a spontaneous genetic mutation, some parents will not realise that their child has the illness.
"If a child contracts haemophilia from a spontaneous genetic mutation, it might be a while before the parents or doctors realise what exactly is wrong", explained Rosemary Daly, the administrator of the Irish Haemophilia Society. It represents around 500 people with the condition.
"When the child first starts to move around, it will begin to bruise itself severely and parents often get accused of abusing their children, when in fact they are worried about what the problem is", Ms Daly said.
The Irish Haemophilia Society was founded over 30 years ago.
After the blood infection scandal became public, the IHS organised legal representation for haemophiliacs who were infected, to present their cases at the Lindsay Tribunal. So far, the State has paid out over £200 million to the 1,300 people, including haemophiliacs, who were infected with hepatitis C from contaminated blood products. However, compensation for haemophiliacs infected with HIV is still being negotiated. Unfortunately, even for those who escaped infection, the fear that it could happen again has not gone away.
"Up to recently, haemophiliacs have been receiving a recombinant product", said Rosemary Daly. "It was a purely synthetic substance designed to replace the missing Factor VIII or IX. However, there has been a shortage worldwide in recombinant products and we have been forced to move back to plasma based products. This is psychologically difficult for some people as the products are still partly being sourced in the US. It is fair to say however that screening processes have been vastly improved".
Haemophilia remains a lifelong condition. There is no cure for it. Symptoms can be managed now better than before. In the 50s and 60s, long before the events which led to the Lindsay Tribunal, the treatment of haemophiliacs was insensitive and ignorant, says Eithne Scallon, honorary secretary of the Irish Haemophilia Society.
"Knowledge of the disorder among both medical professionals and teachers was minimal, particularly in rural areas", she said. "Many children with haemophilia were unable to, or prevented from, going to school. Job opportunities were limited. People with haemophilia were often trained as watchmakers, just as blind people were trained as telephonists. Often, parents knew more about their sons' conditions than their doctors".
Things have improved a lot since the days when children became crippled because their joints were so damaged from internal bleeding without being treated. Education on haemophilia is better and it is not necessary for a child with a blood disorder to be singled out for special attention at school. Sports and physical activities are recommended, but highly competitive contact sports should be avoided. Most men with haemophilia find and keep regular employment. While the public perception is that haemophiliacs are at high risk of cutting their fingers or other parts of their body and bleeding uncontrollably, the greater risk is internal bleeding due to a knock or fall. Blood products are taken to prevent against this, especially by children who are prone to falls and knocks.
Nowadays, women can also be screened to discover if they are a carrier or a potential carrier of the defective chromosome. Children, even those whose haemophilia results from a sudden unforeseen genetic change, can be diagnosed early and treated successfully. The good news is that people with haemophilia now have a better chance than ever of living a normal and fulfilling life.
A very honest and heart warming read about this topic is a book titled"April Fools Day" by Bryce Courtenay, who is an Australian author. He writes about the life of his son who was diagnosed with Haemophilia at a young age. He talks openly about his sons struggle through life including contracting HIV through a blood transfusion.
Following tooth extraction I used have serious bleeds and thought that I was a "bleeder".When I was 49 years old I discovered that I had Xmas disease.Following that there was no more bleeding after tooth extraction as there is a wonserful service at the NCHCD at St.James's. one is given the necessary factor prior to extraction or filling and then one becomes as good if not better than an ordinary patient.I take off my hat to all the staff at NCHCD.
my doctor has sent a letter to a hospital for tests she reckons i have some type of blood disorder what can i expect them to do