Maria and her PNH diagnosis
I was diagnosed with the ultra- rare bone marrow failure disorder PNH in my early twenties in my home country, New Zealand. My diagnosis came after a holiday to Bali where I got food poisoning, after which my recovery was unusually long and significantly, featured blood in my urine. This is a symptom after which the disease is named but which not all patients experience.
It took approximately four years to receive a diagnosis following investigations in New Zealand by consultants from different disciplines. A haematologist who had undertaken some training at University College London Hospital finally diagnosed me after refusing to give up. At that time in the late '90s, there was no treatment and no way to access other patients whom I could meet.
In hindsight, a multidisciplinary approach by the medical profession would have been very beneficial to the speed of my diagnosis, and this premise holds true today.
PNH is where blood cells are vulnerable to be attacked by a part of the body’s immune system called ‘the complement’ due to the absence of two glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and CD59 as a result of somatic mutations in the 'PIGA' gene. The process by which the red blood cells are destroyed, is called haemolysis and is responsible for many of the symptoms of the disease, some life threatening. Haemolytic PNH affects between approximately 1 and 9 people in every one million of the population. PNH affects both men and women, all races and all ages. Most patients are diagnosed when they are in their 30's or 40’s but PNH can develop at any age. PNH is an acquired disease, it cannot be inherited, and it is not contagious.
Moving to London
After my diagnosis in 1997, I got on with my life, essentially ignoring the fact that that I had PNH.
This included moving to London in 2001 to travel and work (with the benefit of an English ancestry visa). I embraced all the opportunities that London offered including working very long hours in law firms and travelling as much as I could.
I was slightly bemused when I would attend some outpatient appointments to find an audience of three consultants from around the world asking me whether the colour of my urine was "more of a merlot or a pinot noir colour?" It seemed we were all learning from each other!
In 2009, a treatment for PNH was licensed in the UK which is delivered by two weekly infusion into the vein and works by blocking the complement part of the immune system which attacks our deficient red blood cells. This was life changing for patients and allowed life expectancy to return to that of a healthy person.
In 2012 having become dependent on regular transfusions of red blood cells, I qualified for this treatment (which in my case) took away practically all my symptoms as well as the constant threat of blood clots.
However, the decision to start this treatment (which took me 18 months to make) was not without personal toll. Unfortunately, PNH patients in New Zealand (and a number of other countries) do not currently have access to this treatment due to its cost and once a patient starts taking it, they cannot stop without increasing the risks inherent to the disease. My decision to start treatment effectively exiled me from my homeland and my immediate family for the foreseeable future. This is in no way a complaint as I know there are hundreds of PNH patients around the world who would give anything to take my place, I am just explaining the wider context.
As a result of treatment, I can run for a bus without getting out of breath. I am not woken in the night with stomach pain, I don't have to wait until lunchtime to eat my breakfast because it gets stuck in my esophagus, I no longer fear getting the flu or food poisoning in case it sends me into hospital with a hemolytic crisis. My colleagues will no longer be able to mistake my jaundiced face after a week as an inpatient, for a ski tan!
Change in direction
Unsurprisingly, this transformation in my quality of life changed my priorities. It inspired me to do something valuable with my newfound health which many PNH patients around the world are literally dying to have. I changed my career path and now support and facilitate publicly funded researchers at Imperial College London, to involve patients and the public in their research (which they are mandated to do). I am also Chair of PNH Support in my spare time.
I established PNH Support in 2015 as a membership organisation for those living with PNH (and their families) in England, Wales and Northern Ireland. Scotland has its own group called PNH Scotland.
Although PNH patients in the UK are in the privileged position of having access to treatment, I recognised there was a need for our community to have an independent platform from which to legitimately engage with the relevant stakeholders in our world.
Of equal importance was the need for a platform through which we could provide peer-to-peer support to each other. We currently have approximately 100 members made up of patients, family members and carers and our closed Facebook group has an even larger membership and provides a place where patients and their carers can troubleshoot, brainstorm, empathise and support each other.
One thing is very clear, nothing replaces being able to talk to someone who has had similar experiences to you. We hold regular regional meetings as well as a biennial national patient and family conference. The charity is run by volunteers and relies on donations and grants to function.
In 2015, I completed a course delivered by the European Patients Academy for Therapeutic Innovation (EUPATI), on the medicines research and development process. This armed me with the knowledge and a European network of peers, to be able to engage the relevant stakeholders in seeking the involvement of patients in as many stages of the medicines research and development process as possible. It continues to be a long road, requiring much culture change, but pharmaceutical companies are starting to realise the value patients can bring to developing the right therapy for the relevant unmet need. It is essential to collaborate with patients throughout the process (and as early as possible), rather than seeing patients merely as ‘end users’ of their products.
I am now very active in European patient advocacy and am one of six patient representatives on EuroBloodNet (the European Reference Network) for rare haematological disorders. I am also a member of the European Haematology Association (EHA) task force for the fair pricing of drugs. In 2018, I was invited to give the patients’ perspective in a session on ‘real world evidence’ at the EHA Congress in Stockholm. Together with other PNH patient organisations from around Europe and the world, PNH Support is in the process of forming a PNH Global Alliance in order to collaborate on common priorities and challenges for the benefit of all our patient communities.
Not only has the prognosis for PNH patients changed dramatically since I was diagnosed but so has my personal trajectory. My motivation in driving forward patient advocacy in the UK and Europe for PNH patients, is to facilitate therapies being brought to market which will hopefully one day benefit (and be accessible to) as many PNH patients globally who need them. My wish is for all those who continue to suffer to have the same opportunity for a quality of life as has been my privilege.
Blogs and news are for information only and do not form the basis of medical advice. Patients should always seek the guidance of their medical team before making changes to their treatment. Views expressed are not necessarily the view of Rare Revolution team or NRG Collective Ltd.
Rare Revolution Editor