Sharon’s PNH Journey

An initial diagnosis of Budd–Chiari Syndrome was made in 2009. At that point, all the information I was given focused on Budd–Chiari, because despite a lot of blood tests there wasn’t a definite reason for the blood clots to have formed — every test came back negative. With no clear cause, it was put down to being “just one of those things,” and I became a regular patient at the Royal Infirmary of Edinburgh.

Being diagnosed with a rare type of liver disease naturally made me wonder how it had happened and what lay ahead for me. However, as there wasn’t anyone else with the same disease to talk to, I decided to focus my energy on getting on with life, staying as healthy as I could, and keeping a positive outlook. Apart from feeling a bit more tired than before, taking a few tablets, attending regular hospital appointments, and learning to manage warfarin and INR levels, life went on fairly normally for the next two years.

Then, in September 2011, my health suddenly deteriorated and I was admitted to the Royal Infirmary in early October. All the routine blood tests were repeated, and this time they included one for a rare blood disorder. This was the first time PNH was mentioned, although no real explanation was given — in fact, I don’t even remember it being properly named.

Around this time I also had a mini stroke, which the doctors said was caused by a dissection of my carotid artery (although in hindsight it was probably another clot). That was when everything started to feel surreal and quite frightening. A stroke — and I was only just 40 years old.

When the blood test results came back, the PNH test was positive. But what did that mean? Two haematologists came to see me, confirmed that I was positive for PNH, used a lot of big medical terms, and then left to consult with another doctor from a different hospital. I never saw them again. My liver doctors said they were unsure what this blood disorder meant in relation to my liver condition and were also waiting for the haematologists to come back to them.

I was discharged and went home, but by the start of November I had been readmitted, this time after having a severe reaction to the statin tablets I had been prescribed following the mini stroke.

This was the first time I admitted to my family — and probably to myself — that I was really ill and really scared.

I was exhausted. I had no energy and no strength. I remember crouching down to get something from the bedside locker and not being able to stand back up again; a nurse had to help me. I remember laughing about it at the time — but if I hadn’t laughed, I would probably have cried.

Then there was the way I looked. I was yellow with jaundice and virtually skin and bone, having lost around three stone in weight. I was sick most days, which meant I couldn’t even keep my medication down. Still, I tried to stay positive — it was a case of keeping my head down and pushing on.

At this point the doctors decided to assess me for a liver transplant, as everyone was convinced the liver was the main problem. This came as a huge shock — I’d say I was completely shell-shocked. It was taking all my energy just to stay positive, but when I looked at my family and saw the worry on their faces, I felt I had to remain strong for them. Watching them worry and feeling unable to do anything about it was one of the hardest things.

In January I was assessed for a transplant. Around this time I was visited by a different haematologist who had heard about a treatment called Eculizumab and the specialist PNH service in Leeds. After briefly explaining PNH, he told me he believed the main problem was actually my blood rather than my liver. He spoke to my consultant, who then spoke to Professor Hillmen. As a result, the transplant was put on hold and, on 2nd February 2012, I had my first Eculizumab infusion.

The relief I felt was unbelievable. I was finally getting treatment — a treatment that could prevent another stroke and potentially remove the need for a liver transplant, which I had been told would carry a much higher risk for me because of the clotting problems.

Looking back, although it took three years to reach a definitive diagnosis, I didn’t really feel like I had been waiting all that time for one. As far as everyone was concerned, I had liver disease and it was being treated. Even when PNH was mentioned it didn’t seem like a big issue, mainly because no one seemed particularly concerned about it. In reality, it was simply that not many people knew much about it or understood the implications.

If there had been greater awareness of PNH — especially among consultants and hepatologists — and a clearer understanding of the connection between Budd–Chiari Syndrome and PNH, then perhaps I could have been diagnosed earlier and my experience in 2011–2012 might have been a little easier. But there’s no point dwelling on the “what ifs.” What matters is learning from these experiences and improving awareness moving forward.

When PNH was first mentioned to me, even a brief explanation would have helped. Any explanation should really be in plain English, and ideally supported by a printed information sheet. From experience, when you are that fatigued and unwell it can be difficult to take in a lot of information at once. It also helps when explaining things to family and friends — otherwise they turn to the internet and often find all sorts of horror stories.

I remained on Eculizumab infusions between 2012 and 2021. During that time, the drug company developed another treatment for PNH called Ravulizumab. The main difference was that once Ravulizumab was licensed in 2021, it required an infusion every four weeks rather than every two weeks like Eculizumab.

I took part in the clinical trial for Ravulizumab and, after randomisation, I went straight onto that treatment. The difference it made was remarkable. Moving from a fortnightly treatment to a monthly infusion was a huge improvement, and the fatigue I experienced reduced significantly. I still had some fatigue, but nothing like before.

I remained on this treatment from 2021 until 2025, when my clone level began to fall. In December 2025 the decision was made to stop treatment altogether. It was a day I never thought I would see. When I was first diagnosed with PNH my clone level was around 99.9%, meaning I had virtually no normal blood cells. By 2025 my clone level had fallen to almost normal levels.

Now I attend the outreach clinic at Monklands Hospital every six months for a check-up. As far as PNH is concerned, I have had no breakthrough symptoms and I am feeling healthy.

Unfortunately, my Budd–Chiari hasn’t done quite as well. Over the past year I have had a couple of episodes of encephalopathy and am now taking Rifaximin and Lactulose to treat the build-up of toxins and bacteria in the gut that can affect the brain. I have also stopped drinking alcohol altogether — even the occasional drink — so I am now either teetotal or a bit of a connoisseur of zero-alcohol drinks. Thankfully the market for these drinks is growing rapidly, and I would much rather have my health than one or two drinks.

Since making these changes I feel better, and I have managed to keep my jovial sense of humour. I am incredibly grateful for all the treatment and care I have received from the doctors, nurses, and everyone else who has supported me throughout my illness.

And as the old saying goes ONWARDS AND UPWARDS.