Below are the experiences of three patients who are seen within the PNH service at Leeds.

Patient A

In 2005 I started to feel very run down with constant colds, sore throats and headaches. I ignored them for a few months but eventually had to go to my GP, I was so tired and I ached all over. My eyes hurt to be open and I had constant, severe headaches.

After a few months of tests, my GP referred me to a consultant haematologist. This was the start of a long and difficult journey towards diagnosis. After 1½ years attending the haematologist, undergoing countless tests and receiving several wrong diagnoses, I was no further forward. Each test raised my hopes that I would finally find out what was wrong with me. I would anxiously await the results and feel total desperation with every negative result. Harder though were the times when I was told the tests were positive only to find out a few weeks later that they were wrong and that we would have to start all over again. These months were the hardest and most stressful of any in my illness.

Eventually I was fortunate enough to be seen by a young Registrar who was on his 6 weeks rotation. He asked me all the usual questions and then said’ “I think I know what’s wrong with you”. After 1½ years I didn’t hold out much hope. When I went back for the results he said, “I was right, you have Paroxysmal Nocturnal Haemoglobinuria or PNH”. The Registrar had studied with a doctor who now worked with a world-renowned PNH specialist. I was in the right place at the right time to just happen to meet someone who knew about PNH and who knew where there was an expert. The following week that Registrar moved on.

On my diagnosis day, I was told there wasn’t much known about the condition and I would on average get 10 years of life. The diagnosis was not great but it was such a relief to finally know what I had. Not knowing was far worse than anything the doctor could have told me.

During the next year I was surviving on blood transfusions. The transfusions didn’t help with my quality of life and were in fact very tiring. They also didn’t protect me from the risk of a fatal blood clot; they merely stopped my blood levels falling dangerously low. We were told about a drug, called Soliris. It is not a cure for PNH but it can give patients an improved quality of life. The drug is extremely expensive and is not funded in Scotland so I was told I was unlikely to get it. It was heart-breaking knowing there was a drug that could give me my life back but I could not get access to it. Over the next year though, I started to reject my blood transfusions and it may sound strange, but this was very fortunate! As I would not have survived without transfusions, the Scottish Government thankfully agreed to fund me for the drug. I started Soliris in May 2008. Within 6 months I started to feel able to do a lot more and since then I have gradually got stronger. The latest research shows that Soliris not only gives a better quality of life but it restores a patient’s life expectancy to normal.

Now a nurse visits me in my home every 2 weeks to give me my IV infusion, and I go and see one of the PNH Consultants at their outreach clinic at Monklands Hospital once every 12 weeks. I know that if I have any problems I can contact the team in Leeds 24 hours a day.

Once I was strong enough, I was asked to set up a Scottish PNH patient group. We held our first patient group at the start of 2012 where I got to meet my fellow PNH patients. They told me of their feelings of isolation, their exhaustion, and their fights to get funding for the drug and their fears for the future. The patient group, PNH Scotland, is now a fully registered charity with the aim to raise awareness of PNH, help provide information for newly diagnosed patients and ensure drug funding for those deemed to need it.

Patient B

I was 22 years old when I first attended the PNH clinic in Leeds. For the preceding 4 years, I had experienced recurrent episodes of abdominal pain and darkened urine, which in spite of being thoroughly investigated, had not yielded a firm diagnosis. Only when I was referred to a haematologist did everything fall into place. With a PNH clone count of 72%, I was immediately commenced on warfarin and my anaemia was treated without the need for transfusions. In the 6 years that followed, I graduated from university and took up a job as a junior doctor, I saw the arrival of Eculizumab, and yet my clone size began to fall, settling at approximately 55%, which meant that I continued to require only warfarin therapy. My active lifestyle remained unchanged. Always being a keen runner, I continued to fit this hobby in around my busy work schedule. I tend to be mildly anaemic, and do get painful haemolytic attacks from time to time, but thanks to the PNH team at St James’ Hospital, I am so unaffected by PNH that I often even forget that I have a chronic disease. I feel privileged to be looked after by such an extremely caring and highly competent team. My confidence in their service is unshakeable and I couldn’t think of a better example of clinical excellence.

Patient C

I am a 62 years old woman and am married with two lads and a grandson. I enjoy gardening, and new technology. I have had other illnesses – Thyroid under and overactive, which I had a radioactive drink in 1984, and lastly I had orbital decompression. At the time I was working full time in a very stressful job.

I was admitted to hospital in 2005 age 55 yrs with severe bruising and underwent various tests to identify the problem it was not until about 2008 that I was told that I had PNH but I wasn’t given any further explanation, I was just told by a locum haematologist at my local hospital. My symptoms were Dark Urine, Breathlessness, Exhaustion, Severe Bruising, Abdominal Pain, Tiredness, I was not able to do the everyday tasks i.e. shopping, cleaning or even play with my grandson.

I didn’t understand what PNH was at that time, so I went onto the Internet to find out about it – I was very uncomfortable with what was said on the Internet about the complaint at that time and I had no one to talk to about it.

I visited the local hospital 3 monthly for blood tests no treatment just a 5 minute chat about how I was feeling, that was until I took a holiday to America where I was taken ill, my symptoms seemed to get even worse than before and could not leave my bed in the Villa, so when I returned home I visited my GP, he referred me back to my specialist at the local hospital were he told me that there was a new treatment for PNH at St James hospital in Leeds, but he did not believe I was eligible for it. I however insisted that I be referred so that decision could be made by Leeds.

I visited the Leeds team at a clinic they held in Birmingham in August 2011, this was a revelation as I learnt more from Dr Hill in 1 hour than I had for the last 6 yrs. Leeds applied for the Soliris treatment for me but were turned down the first time. Further discussions took place with the doctors from Leeds, and Professor Hillmen took my case to the commission and reapplied on the grounds of – A BETTER QUALITY OF LIFE, they then granted me the treatment for a period of 3 months to see if it worked for my case. I had my first infusion on 21st December 2011. Since then I have not looked back, the treatment was extended and I have been given my life back. I can tolerate occasional problems that life gives you and I lead a fuller life than I did before. I am able to help in my garden, do my own house work and have more energy and a better outlook on life than I had before – I have also retired in the last year.