I am 65 years old and suffer from severe haemophilia B. The age is significant because the possibility of a severe haemophiliac with < 1% of factors VIII or IX surviving into adulthood in the first half of the 19th Century was slim.
Haemophilia is a hereditary bleeding disorder whereby the blood does not clot due to a deficiency of Factor VIII (Haemophilia A) or Factor IX (Haemophilia B also known as Christmas Disease). The severity can vary from severe < 2%, moderate 2-5% to mild >5%. A haemophiliac with over 5% can invariably lead a near normal life, the condition often going undiagnosed until prolonged bleeding is experienced following an accident, surgery or a tooth extraction.
Haemophilia is passed on through a female carrier and inherited by the male children. Daughters of affected males will carry the defective gene. The most famous example of this hereditary disease is in the descendants of Queen Victoria passing it to the Russian and Spanish royal families.
There is a general conception that a haemophiliac will immediately bleed to death from the slightest cut. This is not so. A haemophiliac does not bleed more profusely or bleed faster than normal, but bleeding continues over a longer period unless treated.
A haemophiliac can suffer from bleeding episodes in any part of the body, some of which can be fatal e.g. in the head. However, the biggest problem experienced by haemophiliacs is bleeding in the joints (haemarthrosis) and muscles that result in severe and painful crippling and deformities of the limb. This is particularly so in the older generations due to lack of modern treatment or the wrong type of treatment when they were young.
The various methods of treating this bleeding disorder over the last 60 years have had a significant impact on my life medically, socially and economically as illustrated here.
I first became aware that I had "something wrong with me" at a very early age because of the numerous visits to the doctor and hospital for severe bruising, minor abrasions and haematuria. I can vaguely recall first being admitted to the local district hospital at the age of 3 with haematuria. Treatment was complete bed rest. Fortunately, the bleeding stopped.
Treatment for bruising, muscle bleeds and haemarthrosis was usually by cold compresses, vitamin K tablets and bed rest. The GP also prescribed a dark grey coloured lotion known as ‘Lotio Plumbi & Opio.’ The active ingredients of this lotion were lead and opium. It was applied to the swollen area to ‘bring out the bruise.’ Some tablets were prescribed for the pain. Neither the lotion nor the tablets did any good. Little, if any, comfort or cure was derived from treatments in the pre 1948 era.
As an infant I was referred to the local cottage hospital on a number of occasions for x-rays of my wrists and elbows. Since I never broke any bones it is now highly probable that the pain and swelling was attributable to haemarthrosis. The limited movement of these joints by the age of 10 substantiates this opinion. Fortunately, I was only admitted to the local cottage hospital on a few occasions. Pain relief was non existent except for an occasional reprimand from the ward sister "to stop acting like a baby." Some 50 years later, I am still of the opinion that many medical staff cannot relate excruciating pain to bleeding episodes unless they can actually see evidence of bruising or swelling. I soon realised that admission to district hospitals was to be avoided at all costs, but at that age neither my parents nor I had any control as to which hospital I would be sent.
In 1948 I was admitted to the local district hospital with appendicitis, but fortunately transferred to a major teaching hospital. For a severe haemophiliac to survive surgery at that time not only required the skill of the medical staff, but also a lot of luck. A transfusion of seven pints of blood not only replaced the blood lost, but also provided the missing clotting factor and my subsequent survival.
It was about this time that my parents explained that I had haemophilia and that there was a history of it in the family. It has to be said that at the time of conception my mother was not aware of the hereditary principle nor that she carried the defective gene.
In the immediate years following the appendectomy I was lucky to be admitted on several occasions to the teaching hospital where the treatment was so much better. Transfusion of whole blood was a major improvement and shorter periods in hospital. However, it was not without fault. Transfusion of whole blood was always administered through "cut-downs" usually on the wrists or ankles. In one instance I had to be readmitted to hospital for further transfusions of blood to stop the bleeding from a previous "cut-down" which had not healed and had become infected. The infection was treated with twice daily intra-muscular injections of antibiotics. These injections caused severe bruising and bleeding into the muscles.
It was to the end of this decade that I was diagnosed with diphtheria and was to be despatched immediately to the local isolation hospital. This was the only occasion when my mother strongly disagreed with the doctor and refused to allow me to be taken to the isolation hospital where I could have been exposed to contagious diseases. I was to be kept in strict quarantine at home until a second opinion was sought from the Medical Officer of Health. I was subsequently diagnosed with bruising of the throat. Before the initial diagnosis I had attempted to swallow a crushed tablet for the pain and some of the residue had stuck in my throat. Whether the redness of the bruising and the white spots of the tablet had confused the initial diagnosis will never be known.
A more serious bleed in the throat occurred some years later following an ‘I D block’ injection into the lower jaw for a tooth filling. The swelling caused choking and affected breathing. Fortunately, I was admitted to the teaching hospital where a former school colleague, who had since qualified in medicine, successfully treated me on admission.
Another memorable event was in 1960 when I had a tooth extraction requiring 63 pints of blood and plasma. Topical thrombin was a useful product at that time for stopping bleeding. Since I did not like milk puddings, I had ice cream for breakfast, dinner, tea and supper for over a fortnight.
By the mid 1950s my right ankle, both knees and elbow joints were deteriorating rapidly through repeated haemarthrosis. Some 2 years and 2 months were spent in an orthopaedic hospital trying to correct these deformities. Treatment for bleeds was with long periods in plaster casts or straightening of the joints with Thomas splints and traction. Increasing the weights and the occasional tug to expedite the straightening process added to the ordeal.
Another means of straightening my right leg at that time was to encase the thigh and calf in plaster linked with hinges. A turnbuckle was then affixed to two brackets, which protruded from the hinges above the knee. As the turnbuckle was shortened each day it would force the joint straight. Having joints forcibly straightened following a bleed is a painful experience and resulted on more than one instance of further bleeding. These procedures were not very successful and after several months in bed it was decided to manipulate the leg under general anaesthetic. Whilst doing this my right thigh was fractured. Another lengthy stay in hospital followed.
About 1958 a futile attempt was made to correct my right ankle by keeping it in plaster for several months and manipulating the ankle joint by means of kyte wedging.
Intra-muscular injections of pethidine, whilst giving temporary relief from pain were again followed by extreme bruising or bleeding into the thigh or upper arm muscles. There was no such cover treatment with blood or plasma. The blood factor concentrates had not yet been developed and PCA machines had not been invented.
The late 1950s saw the beginning of a much-improved era in treatment. Initially, in an attempt to replace the missing clotting factors reconstituted dried plasma was infused, but was not very effective. However, this was followed by fresh frozen plasma (FFP) to treat factor IX deficiency as in my case. (Cryoprecipatate was used for those haemophiliacs deficient in factor VIII)
In 1962 I had a severe haemarthrosis in my left knee. Despite a considerable amount of FFP the bleeding would not stop. However, a factor IX concentrate had been developed in a major haemophilia centre in England where I was subsequently transferred. Here I was seen by an eminent professor of orthopaedics. He told me he would operate on my knee and asked if I would like him to sort out my right club-foot at the same time. It should be remembered that on admission I had a bent left leg, a severely deformed right foot and a right knee that was not much use necessitating a full-length calliper/brace. These crippled joints that had been a painful nuisance during my school years had forced me to finish school prematurely. In the theatre the professor confidently stated "You will go out of this hospital walking".
His brilliant surgery together with the support of the haemophilia unit enabled me to maintain continuous employment for over 38 years as well as resuming studies in a polytechnic.
In about 1963 a similar major haemophilia unit was started in my own area and enhanced by a medical director that not only treated haemophiliacs with the best known treatment at that time, but also took a personal interest in every patient. treatment continued with FFP and patients were encouraged to attend hospital as soon as a bleed started. It was not uncommon for me to attend work by day, receive four pints of plasma overnight and return to work early the following morning. The consultant made a point of coming to the ward very early to authorise my discharge so that I could return to work and maintain regular employment.
1972 saw the beginning of the specialised haemophilia units as they are today. The introduction of blood factor concentrates, a specialised unit under a doctor/consultant specialising in haematology and/or haemophilia and dedicated staff who understood not only the bleeding problems of the haemophiliac, but also their personal problems. The treatments with the new concentrates opened up a new and fantastic world for us patients. Home treatment gave independence and a much-improved quality of life.
The method of treatment over the last 37 or so years has been the replacement of the missing factor. This is given by an intravenous injection either by a doctor, a nurse trained in the treatment of haemophilia, parents, wife or the patient himself. Regular prophylaxis (replacement of the missing factor to prevent bleeding) enables most patients to lead a near normal life with less disruption to their education and working life.
Unfortunately the advances in treatments and improved quality of life also brought life threatening problems for haemophiliacs. Much of the blood factors had been produced from blood infected with the HIV and hepatitis C viruses. One thousand two hundred and forty six haemophiliacs became infected with the HIV of which over 800 have subsequently died. Waiting for the virus to be identified proved to be a very worrying time for every haemophiliac who had previously received and continued to receive blood products. One did not know whether you were infected or had infected your wife or partner. Many were shunned or ostracised at work and school even though they may not have been infected. Fortunately, I did not experience such behaviour nor did I contract HIV.
Subsequent to the HIV virus, over four thousand haemophiliacs caught the hepatitis C virus from contaminated blood products. By the late 1990s some haemophiliacs were also exposed to vCJD as a consequence of having received blood products produced from blood donated by a donor who subsequently died of vCJD. The treatment for these viruses is very debilitating, horrendous and often not successful. The impact these viruses have on haemophiliacs and their families can be seen in the hearing transcripts of the evidence given by haemophiliacs to the Archer Independent Public Inquiry into Contaminated Blood and Blood Products. The experiences related by those haemophiliacs makes my story fade into insignificance: http://www.archercbbp.com/hearing.php/
From 2002 I had illnesses requiring surgery or other invasive procedures on a number of occasions. i.e. renal stones, replacement knees, open cholecystectomy, and abdominal surgery on two further occasions.
In 2004 I was diagnosed with coronary artery disease. In addition to the risk of an angiogram to establish the extent of the disease, subsequent treatment like angioplasty or by-pass surgery was compounded by the need to use Heparin and anti-platelet drugs like Aspirin and Clopidogrel – drugs normally alien to haemophiliacs. The alternative was to treat with drugs a condition which had not been fully diagnosed and whose severity was unknown. The choice was left to me and I chose to go with the angiogram which showed narrowing of the arteries in four locations. Following the angiogram I was, until then, the only haemophiliac in the world with < 1% Factor IX who has had an angioplasty comprising 4 stents inserted in the coronary arteries. The support and treatment by the coronary care and haemophilia units was exceptional.
Incidentally, none of these surgical interventions would have been possible in previous years except at extreme risk and any surgical procedure for coronary problems would have been out of the question. Furthermore, the cost would have been prohibitive except for the NHS.
Having haemophilia, particularly before the present day treatments of using recombinant factors, obviously had a considerable impact on ones' life. Long periods of missing school and work. As illustrated, I lost a lot of time from school having spent over 5 years of my life as an inpatient in hospital. Despite the very frequent bleeding episodes, I had reasonably good education in a grammar school and managed to work for over 38 years with little time lost at work. Any success I claim for my good attendance at work is attributable to the excellent medical care received from the haemophilia unit at the hospital and current forms of treatment. The vicissitudes in my life have on times been extreme. Remaining alive to this age despite several serious illnesses is obviously the greatest achievement. However, one of the 'lows' that come to mind was the period in about 1962 when I could not walk, finished school, and no hope of employment. The two 'highs' were regaining the ability to walk after the brilliant orthopaedic work done in 1962. The other memorable 'high' was after the coronary problems to be able to stand over 12,800 feet up Mont Blanc at the age of 62.
I have had some very bad experiences under the NHS, particularly in my early life. However, it has not been due to neglect, but mainly through lack of knowledge and methods of treatment that would not be advisable today. I have had superb treatment under the NHS. Some of the illnesses I have suffered in recent years have been the penalty of living into pensionable age and not related to haemophilia.
When a genetic condition is known to exist in a family, well informed knowledge of the condition is essential when considering having children. When I was born and my life expectancy was no more than seven years of suffering, there were many occasions when I wished I had never been born. This is particularly so when one is crying night after night in constant pain and without the benefit of analgesics or any form of curative treatment. Three weeks in school and 4 weeks absent in bed or hospital was the norm. Any quality of life with this complaint was not known then and like many other genetic conditions put an intolerable strain on the family. I personally feel that it is selfish of anyone to pursue having a family and knowing the child will have a genetic condition that will have no quality of life. The unborn child cannot be asked for his /her view. I have the benefit of long experience and can offer an opinion as a sufferer. This view is not shared by everyone.
Why then did my wife and I decide to have children? After well informed counselling we were advised to have children if we so wished because; a) any boys would be clear of the defective gene, b) that any girl carriers of the defective gene would have the choice of whether to terminate the pregnancy of any male foetus, and c) by the time they became of child bearing age it would be possible to determine whether the foetus was a carrier. Also, because of the developments in treatment in the last 30 years, young haemophiliac boys are unlikely to suffer as us older generation.
Having haemophilia has considerable impact on your family and social life. Not being able to do exactly what or when you plan to do things as a family. Promising to take the children to the sea-side only to find you cannot walk in the morning. Trying to be tolerant when in a lot of pain calls for tolerance from all sides of the family. The mental ability, but not the physical ability to do something is very frustrating. For those not able to work either through ability or illness, there is the added strain of maintaining oneself or family. Of course, this applies to many other conditions. In 1979, before the HIV and HCV issues, I was fortunate to get a mortgage to buy my house and with mortgage protection insurance. I have since found it impossible to get any life insurance or insurance for a personal loan because it was often assumed by insurance companies that all haemophiliacs have been exposed to or tested for these viruses. I assume the same problem arises with other haemophiliacs who may have been exposed to these viruses. It is possible to get travel insurance, but the premiums and/or excess are often loaded considerably. Whilst these comments are not relevant to the illness itself, it nevertheless shows how a genetic condition impacts on every day life which most people take for granted.
My attitude throughout life has been - "If you wake up in the morning and you can walk, it is going to be a good day. If you wake up and can walk without pain, it is going to be a very good day."
I think I have been very lucky to have lived to achieve most of what I wanted, most haemophiliacs of my generation haven't.