‘Haemophilia treatment is safe and really effective now, so why are you still campaigning?’
Hi, I’m Joseph, and this is a question that is often put to me. Like our treatment the answer is complex, and reflects my experiences and understanding of remaining risks, the lack of patient information and involvement. In short that lessons from the past do not appear to have been fully learned.
Campaigners are uncomfortable reminders for those of today’s generation who would like to move on from the dark days that decimated the haemophilia community. Unfortunately, for survivors of the NHS contaminated blood scandal it is still a very real, ongoing problem. Below are some of my experiences: a few from bleeds, many because of the infections, mostly traumatic to live through and recall. Thankfully family provided enough good times to stimulate my desire to live.
I was born in 1965 into a family where haemophilia was unheard of. My parents were thrown into the deep end in an era where there was no information or significant support, even from a Haemophilia Society that was still young and heavily reliant on the advice of government bodies.
Factor replacement therapies were in their infancy, but they offered hope of controlling bleeds where before there was none. This, in part, may explain why they were embraced so over-enthusiastically and with less caution than should have been employed. The suspicions of rough and ill treatment stopped when I was around one year old, after the doctors themselves caused a major bleed by taking blood from the artery in my neck! A diagnosis of severe haemophilia A, with a 0% factor 8 level followed soon after. Early childhood was dominated by frequent, very painful bleeds that required hospitalisation and administration of cryoprecipitate by a drip infusion. Cannulas weren’t so advanced or flexible then and were more likely to be painful to endure. Often my arm would be strapped out straight on a wooden splint for the infusion that was sometimes administered over a few days – it wasn’t pleasant, but was effective. However, a life-changing danger lurked and it altered the course of my treatment and life. Ironically, the first real danger was not a viral contaminant, but an inherent risk that remains relevant today – perhaps even more so because recombinant product knowledge is still developing.By six years of age I had already spent a year or so living with painful mouth infections and recurrent abscesses. Eventually, the doctors decided to perform a tooth extraction to help the gum heal. There was just one problem; the cryoprecipitate wasn’t working as it should. A few blood tests later and their suspicions were confirmed – I had developed a high responding inhibitor that prevented the treatment from working at all.
Despite this new complication, the painful infection became so bad that I needed the surgery. When the time came though, the doctors were too fearful to make the decision to operate, so my mum had to make it for them. The resultant bleeding was profuse, prolonged and traumatic for everyone – much too gory to describe here! Fortunately, six weeks later, thanks to many blood transfusions and bottles of aminocaproic acid, the bleeding stopped and I survived. It also cured the infection.
Inhibitors are a significant complication for a haemophiliac and without the prospect of any treatment at all my parents became much more protective – even overprotective. As a child I was very boisterous but was constantly taught to look out for dangers and to protect myself. I always felt very vulnerable away from my home environment though, because my condition and its risks were so poorly understood. These concerns later proved to be justified as it led to me having a number of serious bleeds even while at a specialist school for disabled children. One particular bleed when I was seven years old started with a stiff, painful back but quickly spread into my spine, leaving me paralysed from the neck down for over six weeks.
It was around this time that I gained my first insight into the methods and ethics of research in that era. My parents arrived at hospital to visit me one day, only to witness my neck and body frighteningly swelling up, me struggling to breathe and the onset of anaphylactic shock. The doctors saved me and afterwards my parents learned that someone had tried using bovine factor 8 as a means to treat my bleed. Later on they learned this experiment had already been tried on me by a different doctor, but was not recorded, and it was apparently the previous exposure that led to my adverse reaction. They were very concerned that this had happened without being asked.
By contrast, my spinal bleed was controlled with experimental Porcine (factor 8 from pigs), with consent. Although I quickly developed an inhibitor to that as well, it was effective for a short time and healed the bleed. With physiotherapy and determination, I learnt to walk and control my arms and hands again, gradually regaining my previous abilities, with just a few injuries taking longer to improve.
The only available treatment for the frequent day-to-day bleeds was rest and crushed ice packs. As a result schooling was unavoidably disrupted but after each bleed I would bounce back with a feeling of undaunted optimism.I was prevented from joining in riskier activities and had to find other ‘bleed-friendly’ alternatives such as drawing, making Airfix models, reading or playing snooker. My parents and physiotherapists decided it would be good for me to cycle to keep me active, but for safety I should have a trike – I loved the idea of a bike but didn’t want to feel ‘different’ – so when the trike arrived I spent a lot of time learning to ride it on two wheels, much to my mum’s horror!
By age 13 and following a spell of home tuition that sped me through areas of education I hadn’t self-taught, it was decided that Lord Mayor Treloar College would be a better environment for me. It had boarding facilities, other haemophiliacs and an on-site haemophilia medical centre.
Apart from a short spell of homesickness, I loved Treloar’s; any schoolwork was brought to the medical centre so I didn’t fall too far behind, but mostly I gained independence, confidence and social interaction not previously enjoyed. At a time of such a new found positivity it was, and remains, hard to comprehend that this was where my life would begin its most tumultuous journey.
In 1980, when I was 14, inhibitors were still a challenging complication of haemophilia with no routine effective therapy, so when I was told of a new experimental therapy I was naturally excited.
My parents and I agreed to trials of the experimental ‘inhibitor by-passing’ product (Autoplex). It had never been used before so there were lots of precautions taken: two doctors infusing, taking copious blood samples and constantly monitoring me, a nurse checking pulse, blood pressure and reactions, and a ‘crash’ trolley on standby.
The infusion was given very, very slowly over about two hours and I felt every drop of treatment infused from the very first tentative push on the syringe. It had to be stopped frequently because of reactions. Sometimes my chest became tight, my heart pounded and I got short of breath. Other times I became flushed, faint and felt like all my blood was rushing to my head at once; there was also the risk of clotting too much and causing a thrombosis, or worse. I was told of these risks beforehand and made an informed decision to take part. It subsequently helped in the development of the single, safer ‘pro-thrombin complex’ product in use today.
Another development was ‘immune tolerance therapy’. This required substantial, regular infusions of factor 8 therapy to stimulate my inhibitor. Initially my antibody would rise rapidly to a very high level, but later was expected to fall back to a very low level or even disappear altogether. There were no other significant risks described and it seemed I had nothing to lose – and possibly a lot to gain if it eliminated my antibody and made routine factor 8 use a possibility. I agreed to be one of the first to try this new approach. For me it ultimately proved unsuccessful, probably because my inhibitor was long standing, but for some it worked and, now refined, ITT is in routine use for patients with newly diagnosed inhibitors.
The long-term downside to blood product use was something neither my parents nor I had ever heard mentioned – until I developed hepatitis. We were then told; ‘It’s in the treatment; it will resolve and you’ll just become immune’. We were shocked and a little perplexed when the symptoms returned.
However, hepatitis was completely overshadowed when I became ill with something more mysterious. I developed persistent flu-like symptoms, a cough, night sweats and felt completely wiped out all the time. I was at the medical centre a lot and even with boarding I missed the majority of that year’s classes.
As American doctors started to limit blood product use in some clinics, concerned by the risk of AIDS, I was given prophylactic factor 8 for the first time, with millions of units infused between 1983 and 1984. It is now clear from my medical records that in 1983 AIDS was immediately suspected. By 1984 a hospital registrar let slip that I was HTLV III positive. Aged just 18, all the illness suddenly made sense, and my world disintegrated. By the time an official HTLV III test was done in 1985, it merely confirmed what I knew – I had been infected for over two years. The phrase ‘HIV positive’ later became commonplace after the so-called ‘new HIV’ test was done in 1988 and a frozen sample was tested that confirmed their 1983 suspicions.
Despite the challenges from bleeds and the infections that hit my crucial exam years, I left Treloar’s with a mix of CSEs, O levels and A levels, attaining 14 qualifications in all; an unexpected achievement considering all the disruption.
The years that followed saw my health unravel in a way never experienced with haemophilia alone.
Previously a bleed would be painful and disruptive, but was a temporary state, from which the undaunted, rebellious spirit common to haemophiliacs would win through. That spirit made me resilient to my new reality too, but over time the pernicious, unrelenting disease overwhelmed me. Disturbingly, unlike bleeds, I couldn’t tell anyone why I was ill, such was the stigma.
At times I found myself admitted to hospital with unusually resilient infections. Surprisingly it was here that the stigma was particularly obvious in the 1980s. Fear had driven procedures that meant I was confined to an isolation room on the infectious disease ward; even my parents were advised to maintain the highest level of decontamination. Nurses barely entered my room and I could go days without receiving help to wash or manage other personal care. Their fear amplified my fear of what was to come. AIDS and death was everywhere, among friends, acquaintances and on the television. Unaffected friends, neighbours and mum’s community care colleagues, with no realisation of the relevance to me, expressed fearful, uneducated, often nasty opinions about people with AIDS.
Beside the persistent illness and fatigue, the implications for a developing man had hit home hard and the psychological impact proved unbearable. Depression took hold and plans for university and work became casualties.
Eventually, resigned to an early death but seeking to regain some purpose in life, I applied for a position, supported by the Manpower Services Commission, in Research and Planning within the local authority’s education department. To my surprise I was successful.
This also led me back into studies, first at BTEC level and then a degree course. It provided an insight to business, accounting, economics, technology, politics and law, but depressingly, illness and lost time forced my withdrawal before completing the degree, and then undermined my pursuit of work in IT and computer programming. Reluctantly, I settled on school-based posts in admin and finance, just as opportunities arose from the transition for schools to manage their own budgets.
Over the next five years the challenge to hide my health problems became ever more difficult. Severe side effects from anti-viral drugs just added to the fatigue and sickness until it was obvious that I should really have been at home in bed instead of working. Depression was an ever-present factor as the pressures of living with HIV took their toll. Attempts to forge relationships proved difficult; the inability to safely have children and fear of passing on infection being just a few of the overwhelming reasons they failed – if they survived longer than five minutes after being told I was HIV+ at all!
Development of recurrent thrush, skin problems and childhood illnesses like chickenpox were a portent to the more serious, complex conditions that would follow.
Pneumonia and chest infections were a shadowy fear that followed me everywhere – especially as I became more ill and it became necessary for me to start taking AZT and preventative medications. A severe reaction then left me unable to tolerate a crucial and effective anti-pneumonia medication. This generated a severe fear of being near anyone else who had a cough or cold too, even to the point that I took time off work to avoid colleagues’ bugs.
However, a stuffy nose and deterioration in hearing marked the onset of a serious decline. Doctors were initially puzzled, but eventually an MRI scan showed an apparent nasopharynx lymphoma. It was in a dangerous location that ruled out biopsy, radiotherapy and other interventions which would have created life threatening bleeding for a haemophiliac.
Usually aggressive in nature, survival of months seemed optimistic. A miracle was needed. Eighteen months on, still preparing for the inevitable, I had a monthly scan to check the amount of new growth. Breathing through my nose had become impossible and there was constant pressure behind my eyes and nose, which made it all the more unexpected to find there was no progression. I didn’t dare believe it was significant until the next two months revealed the same result and even hinted that it was shrinking. My sinuses remain stuffy today but the lymphoma, lymphomegaly, or whatever it was, that took me through that two-year torment has now subsided. Doctors remain puzzled.
Life went on – still without tangible hope or purpose meaningful to me. It seemed most people grew up to raise a family, immerse themselves in careers or go on travels; this was going on all around me with others my age. But for me I was in limbo and could see no way out – and certainly not to other countries like America that ironically prevented people with AIDS travelling there.
Seven years into massive toxic doses of AZT mono-therapy my body finally buckled under the viral onslaught.
1996 brought another bout of chickenpox/shingles, another infection, and then a sudden onset of a crippling arthritis. Within days I was admitted to hospital, unable to sit up, feed or care for myself, joints were rapidly fusing; the pain was excruciating from head to toe. Alongside this I quickly wasted away to 50% of my previous weight – for someone who’s nearly six feet tall, 4 ½ stone is not a good look!
Three months later, unable to influence my decline, doctors arranged home care and released me for what seemed like the last time. Friends and family visited and this time there was a tangible, unspoken, finality in the goodbyes.
Fortunately, new multi-combination anti-HIV medication arrived in 1996/1997 just in the nick of time to save my life, but too late to save my job from which I was medically retired. It wasn’t plain sailing though, as each drug had specific, often conflicting, conditions on when and how it had to be taken, throughout both day and night. Adherence was unbelievably demanding, especially with arranging care support at appropriate times, and the extreme side effects made it even more difficult. The fear of treatment failure motivated me onward.
Several protease drugs had to be stopped because they caused severe excruciating bleeds that could not be controlled – they had rendered my clotting agent ineffective even with maximum permitted dosing. Sub-optimal drug therapy also led to drug resistance concerns and ensured available combinations were rapidly exhausted.
One year later a three-drug combination was found. Taken over six dosing times day and night, some with food, some on an empty stomach, it was demanding and intrusive but effective and just about tolerable.
Over the last 25 years, I have had to tolerate many side effects from anti-viral drugs. Some were common like vomiting and diarrhoea. These were particularly difficult to accommodate when I couldn’t even sit up or get out of bed, and had to wait hours till the next care call (loss of dignity was assured!). Other side effects, like peripheral neuropathy, brought constant trials; my left foot and leg often felt like it was being held in a fire with no way to extinguish the flames but to the touch it was cold!
Throughout one year of hepatitis C treatment, that also combined a new HIV medication, I had fevers to the point of convulsions and my skin itched and shed to leave cracked and bleeding flesh. The only treatment that helped was a cream that itself caused an intensely painful burning.
Medication has also proved capable of having permanent adverse consequences. Memory and cognitive problems have plagued me since my year of hepatitis C treatment, and early HIV drugs affected my body fats and shape leaving me with severe lipodystrophy that increases my risk of heart, liver and kidney disease too.
One particular long-term drug caused me to ‘trip out’ during the night but then dulled my mental function in the day. When this drug was eventually changed after 12 years, it initiated a powerful psychological meltdown akin to recreational drug withdrawal. Symptoms even raised concerns that I may be affected by vCJD (as I received an implicated batch), resulting in brain scans to look for the tell-tale signs.
The worst effects revealed new uncontrollable depths of depression, months of insomnia, hallucinations and, unsurprisingly, led to very dark thoughts. The frightening and very distressing psychological impact has left an indelible mark that lives with me today.Today my viral infections appear to be controlled and stable but I hold my breath each time I have a review or liver scan because I know this can change rapidly. Differences of opinion about interpreting my liver scans have added to this uncertainty but a biopsy remains too dangerous with an inhibitor.
The injuries from all the illness over the years have ensured I will always be physically restricted, need an electric wheelchair, special disability aids and homecare support. And despite medical advances it is also unlikely I will ever work again, or have the family I once hoped for, Haemophilia with inhibitors remains a major added complication. The treatment I receive hasn’t progressed in 30 years and remains a barrier to rectifying some of my injuries and the added effects of ageing.
Some might argue that my experiences represent the darkest days of haemophilia, that the world has moved on and modern anti-viral medication and recombinant clotting agents have eliminated such concerns.
The way new anti-viral medication is transforming the lives of anyone newly diagnosed today is fantastic. It is life-saving, less demanding to take and has fewer side effects. However, it remains a lifelong treatment (for HIV), must be given early for best results and is in its infancy, so all long-term effects may not yet be apparent despite the undeniable immediate benefit.
Developments with recombinant clotting agents appear to be transforming haemophilia lives too. So what’s the problem?
Quite simply the treatment and dangers posed are complex. For this reason I believe it’s important that patients are fully informed of all available treatments, all research trials and any potentially associated risks. If they want to, patients should always be included in deciding what treatment is best for them.
There are many dangers facing the continued use of plasma-based products for those who still need them. Emerging and re-emerging viruses, zoonotic infections capable of jumping the species gap and prion disease are just a few examples.
Recombinant products too could have dangers and will require great vigilance and responsible development and use. Once thought to be impossible to transmit viruses, the introduction of heat treatment is a safety measure that betrays a fundamental concern in that belief. The use of hamster and mice proteins in products also raises questions of potential for zoonosis.A danger that has always been seen in up to 30% of treated patients is that of inhibitors. This remains a problem with plasma-based products and potentially even more so with recombinant products.
New risks related to treatment use are also emerging. Implications for heart disease are suggestive of an increased risk, compared with society in general, instead of a normalisation from the previous lower rates experienced.
If today’s generation don’t take an interest in the benefits and risks of modern treatment, and have no voice in what happens to them, then the unquestioning trust shown by the injured, past generations will be re-established and the potential for similar disasters will reemerge. Governments have put measures in place that would prevent individuals obtaining justice, support or redress should a similar event occur again. The inadequacies of the governments’ ‘support trusts’ have driven a campaign for change that has lasted 25 years; I don’t want to see future generations faced with such challenging intransigence.
Today’s treatments are undoubtedly safer than at the height of the AIDS epidemic but haemophiliacs and officials should not be complacent – haemophilia is bad but HIV and hepatitis viruses are so much worse!
Over optimism is damaging and for this reason haemophiliacs should understand they have a responsibility too. We have always pushed our personal boundaries, not wanting to be held back by our bleeding disorder or appear to be ‘different’. Improved bleed control naturally drives the desire to push further than ever before, but here is where the responsibility lies.
Clotting agents can now leave you almost bleed-free if they are used wisely, but pursue very physically demanding or dangerous pursuits and bleeds can and will still occur – this can lead to a target joint and damage akin to pre-treatment days. The increased risk from head injuries remains too.
Acceptance that living with a complex bleeding condition requires a little moderation may enable the rest of life to be lived without significant disruption. This way it is not the condition that limits success but the individual’s aspirations.
So why do I still campaign?
Put simply, it’s because the haemophilia journey is not yet complete. Treatments have improved but much more research and development needs to occur to achieve what would amount to a safe, functional cure. The way this will be achieved and the risk posed by inhibitor development still concerns me.
While the mistakes of the past remain unresolved and there is no tangible evidence that those lessons have been learned, I feel compelled to campaign for better outcomes for both the infected survivors and future generations. Along the way, hopefully I can encourage people to protect themselves by staying informed and having the confidence to let their voice be heard.
© Joseph Peaty