In October 2015 I developed a chest infection (quite usual for me).  After 2 weeks of antibiotics it hadn’t properly cleared and I remained unwell.  From January – September 2016 I was unable to work.  I suffered extreme fatigue, breathlessness, bone & muscle pain, extreme brain fog, struggled to speak or even open my eyes, inability to stand or walk for long.  I constantly felt as though I didn’t have a skeleton to hold me up.  All my blood levels were low and I was referred to various hospital departments but no-one seemed to know what was wrong.  In the end I was told that I was suffering with Chronic Fatigue Syndrome and basically, I had to get on with it. 

In January 2017 I went back to my GP and she said she wanted to start the whole process again and that it was very clear I couldn’t live like this.  She tested every part of my blood and my immunologist investigated further.  On February 28th 2017, ironically on Rare Diseases Day, I had a phone call from my local hospital saying they were pretty sure they knew what was wrong with me.  I had to go straight to hospital that day and was told I had PNH with a high clone size of 86%. A new consultant had started at the hospital, looked at my bloods and said ‘Has anyone tested the patient for PNH?’.  The answer was ‘No’ as none of the other staff were aware of the ultra rare disease. I instantly started on daily Fragmin injections (to ensure I didn’t get a blood clot) and within a week I was at St James Hospital in Leeds to start treatment with eculizumab infusions. 

What followed was 4.5 years of getting used to treatment on eculizumab every 2 weeks, Nurses in our home, infections and admissions to A & E, all extremely physically and mentally challenging.  What has helped me hugely is finding the PNH Support group.  I remember attending a conference organised by the charity when I was newly diagnosed and how powerful it felt to be in a room with other ‘rare’ people who were just like me!  Having an ultra rare disease is very interesting to the medical profession and I have excellent care but it is extremely lonely as no-one understands what you are going through.  To be able to share and hear other patients journeys with this disease has been invaluable to me and my family. I have attended many online webinars run by PNH Support with guest speakers talking about managing fatigue, nutrition, drug treatment information & various other topics and most importantly to me, have had the opportunity to chat with other patients.  I am involved in my local group and have made strong supportive friendships through it. 

My PNH journey continues and I started on ravulizumab (every 8 weeks), just over a year ago. I know I will have the continued support of PNH Support in the coming years.