My PNH diagnosis and journey began in 2015.  Looking back I’d probably had it for a while as I had ignored symptoms, being far too busy with work and teenage children to go to the doctor – ‘I can’t be ill as I have children to look after’ was always in my mind. I actually just thought I was unfit when I was breathless going up the stairs.  During a visit to the dentist, I was told my gums looked very pale. I self-diagnosed anaemia and bought some iron tablets.  I felt amazing for a week and my brain felt alive and oxygenated!  I was so chuffed with my self-diagnosis but unfortunately it was very short lived when my urine turned the colour of coca-cola so I immediately stopped the iron tablets.  Rather scared, I went to the doctor who looked shocked at the colour of  my sample.  I had a number of blood tests, which were distorted initially due to the iron tablets (so I wasn’t that anaemic on the results) but a repeat test a few days later showed a plummeting haemoglobin and I was told to go to hospital straightaway.   

My local hospital was amazing but I was kept in the dark for 48 hours as my blood was couriered up to St George’s hospital for analysis.  I remember the Consultant Haematologist standing behind the curtain telling two newly qualified doctors ‘It’s extremely rare’. I was certainly a medical curiosity to the new doctors!  I was  given my diagnosis the next day when the results from London were back and confirmed their suspicions .  I was very fortunate to be diagnosed so quickly and I felt very confident that I was going to be well cared for by the medical profession in managing my PNH when I was told there were two specialist centres.   

I was referred up to Kings College Hospital for further management and after a blood transfusion, as my haemoglobin had continued to dropped even further, and after a bone marrow biopsy,  I started eculizumab straightaway.  I was in awe of the expertise of the Consultants and nurse specialist and so grateful for their care.  It was such a relief to start treatment and I got used to the two weekly infusions at home.   

Kings College Hospital also put me in touch with PNH Support.  Initially, I didn’t think I would need a support group or that it was my thing but then I decided to engage and went to a meeting in London and it was wonderful to meet other patients with PNH and realise how normal we all are despite being so rare.  This was also attended by a Consultant and Clinical Nurse Specialist who gave up their time on a Saturday morning !  I’ve tried to participate in as many meetings as possible since the including the PNH Patient and Family Conferences, one of which was in Birmingham where I spoke about my experience taking part in the ravulizumab trial. When Covid hit, PNH Support continued over Zoom and it was so wonderful to see familiar faces during the long months of lockdown.  I am forever thankful for the support that is given and the updates we receive on new developments in the PNH world.   

Following my diagnosis, all was going well until March 2016 when I got breakthrough haemolysis and then collapsed with a  blood clot in May 2016.  It is extremely rare to get a clot whilst on treatment but I was enduring an enormous amount of family stress at home that I believe was contributory.  I had thrombolysis to break up the acute clot but they also discovered a chronic old one – I used to get intermittent swelling in my calf for a few years prior to diagnosis so that warning sign was a clot that I had ignored.  I never ignore any symptoms of any kind now for all aspects of my health, not just PNH – I have learnt my lesson!  After this setback, everything settled down and I was doing well on eculizumab.   

In 2017, Kings College Hospital offered me a choice of a couple of clinical trials.  I was pretty nervous about taking part in a trial but the option of the 8 weekly infusion trial was a no brainer so I started the trial in July for ravulizumab and it was wonderful to have a future with freedom to not think about treatment for 8 weeks – in fact I often forgot I had PNH.  Once the trial was completed, I continued to receive it on compassionate grounds until it was approved by NICE.  This did take some time because of the pandemic.   

I had only had a few infusions of ravulizumab after it was approved by NICE before I was offered another trial.  This was because I still had some extra-vascular haemolysis and anaemia.  I felt pretty good on ravulizumab but I was curious to see if another drug could help my haemoglobin levels.   This time it was a tablet trial and I decided to go for it.  It is always a bit nerve-wracking when you take the first dose, be it an infusion or tablet, but the nurses in the Clinical Research Facility are wonderful and put you at ease.  Taking part in this trial has been the best decision as my blood results showed a staggering improvement after just a couple of weeks with a completely normalised haemoglobin.   I had adjusted to living with a low haemoglobin on both eculizumab and ravulizumab but the tablet has transformed my health and I feel amazing and have so much more energy.   I feel very optimistic for the future of PNH treatment.