I have been living with PNH for 25 years.
In 1997 I had acute Aplastic Anaemia (AA) with haemoglobin 2.9, platelets 3 (!), and no white cells. It was treated with two courses of ATG (horse) which brought about a partial recovery and then ATG (rabbit) to full recovery. I had Cyclosporine after both ATGs. The PNH clone appeared later on.
Over two decades I lived with very large PNH clones in all blood cells (98%), my haemoglobin was in the region of 8 to 11, I had normal platelets and white cells counts and an elevated LDH level of 1200-1800.
After my AA was treated my life returned to normal. I was working and studying full time, traveling a lot, hiking and skiing at high altitudes, and being super active with no PNH treatment. I managed to switch careers and ran my own business for 14 years. At some point I took up diving as a hobby and trained to “Rescue Diver” level.
My body adapted to having a high level of LDH and low haemoglobin. Of course, I had haemolytic episodes along the way. I had to go to A&E a few times and ended up in ICU once or twice. PNH is a lifelong chronic condition and unfortunately, experiences like these come with it.
When I turned 45, I started noticing changes. I felt less motivated and moodier, and I lost interest in the things that usually excited me. I definitely felt less energy, and I was less inclined to socialise. I was not depressed but felt like I was not myself. I went to my GP and told him my symptoms. He said it was all due to the perimenopause. I read a bit about it and adjusted my vitamin and supplement intake.
I used to be very sharp and could concentrate on things. My attention started to jump from one thing to another. I started forgetting things. I left food cooking on my gas stove about 5 times. I felt like I was losing my brain capacity. I have Alzheimer’s in my family, and I worried that I might have an early onset of it. I also developed constant tenderness in my breasts.
I went to my GP again describing all those symptoms. He said everything was due to changes in my hormones and that there was nothing to be done about it. However, I insisted that what I was feeling was not normal and he referred me privately to a neurologist and to a gynaecological endocrinologist. After tests and a scan, the neurologist concluded that my brain was ok. My private insurance did not cover the gynaecological endocrinologist. Then COVID happened.
During the first lock down, I started exercising more and developed a frozen shoulder. Anyone who does sports has some experience with injuries and works with the physio to recover. It turns out that even experienced female athletes can have “surprising” injuries around this time in their lives. Hormones do play a huge role. The brain thinks “I can”, but the body cannot be pushed as far as before. Obviously, I did not account for that.
At 47 my period stopped for few months, then became irregular, sometimes very short, then turned into rather lengthy ones. I went to my GP again with questions. This time I asked for a female doctor. She found nothing on examination. However, she did tell me about the criteria for “when to go straight to A&E”. That was about a week before Christmas.
I boarded a plane to spend the holidays with my parents who live overseas. A day after my arrival I had severe abdominal pain. I curled up on the floor and almost passed out from the pain. That was my call to go straight to hospital. I had full on gynaecological bleeding and ended up on an operating table. I had a hysteroscopy under anaesthetic and a benign polyp was removed. Several fibroids were left untouched as they were not large enough for surgical intervention.
All the medics were super swift, exceptionally professional with a full understanding of the high-risk patient in their care. This was at the height of the pandemic and before COVID vaccines were available. The UK and other countries locked their borders and I was overseas in the country I moved out of almost three decades ago. I quickly registered locally with a GP and gynaecology practice thanking God for dual citizenship and access to free medical care there.
My periods changed to heavy bleeding. I got scared when the first one did not stop and went to the hospital again. They found no pathology, offered me a Mirena coil or a surgical menopause through hysterectomy. I was not on any complement inhibitor treatment for my PNH and I knew any surgery might have been super dangerous in my case.
On top of heavy periods my joints started to hurt. It felt like molten lead was poured into them. My bloods were checked for arthritis, but the test came back negative. I started oral progesterone, but it made no difference to my heavy periods. Then I had an intrauterine system (IUS) (Mirena coil) implanted. I was referred for a mammogram and a breast scan and it turned out I had benign cysts in my breasts.
I had access to a local GP, gynaecologist and other specialists, and was in communication with the PNH team at King’s College Hospital, London. When the UK opened its borders, I returned home.
After some months I started experiencing spotting due to the IUS. After it did not stop for a month, I went to the GP asking for a referral to a gynaecological endocrinologist or any specialist who might help. I was referred to an Early Pregnancy Unit which felt a bit like a joke in my circumstances. Nevertheless, this was the quickest route to rule out another potentially developing pathology.
After a year I got a phone consultation with the local Menopause POI & PMS service on the NHS. After discussing my medical history, the specialist nurse went through a specific questionnaire for peri-menopause symptoms. She concluded that in addition to an IUS (Mirena), I would benefit from transdermal oestrogen (through the skin via a patch or gel) )which is a type of Hormone Replacement Therapy (HRT).
Then, more discussions took place between the PMS service and the PNH National Service due to the potential thrombotic risk of HRT in the setting of a prothrombotic condition (PNH).
The last few years have been super challenging. I have had many haemolytic episodes with black urine, severe abdominal and lower back pain that was not helped by painkillers, severe fatigue, and sleeping for 14-16 hours a day without being refreshed. It was more like passing into oblivion rather than sleeping. I was not able to concentrate on anything. Mostly I stayed in bed. Even basic activities such as having a shower or brushing my teeth standing up was a challenge. I had bloating and flatulence. On many occasions deep layer muscles contracted, my heart felt squashed, ribs and chest felt squeezed. I started having a new symptom where it felt like someone hit me in the throat. I stopped working. I barely had enough energy to care for myself and my family.
I reacted badly to all the Covid and flu vaccines and was bedridden for weeks after. My LDH level hit 2500 on several occasions. The PNH team at King’s College Hospital London was super supportive and quick to provide advice. As a result of how PNH was now affecting me and more than two decades after the initial diagnosis, I was put on PNH treatment.
After I was put on PNH specific treatment, I then started using transdermal oestrogen. It took several months to feel a positive effect of it.
I am 50 now. Overall, it took me 5 years to figure out an effective HRT plan. It was a dynamic and challenging process. The benefits of HRT should outweigh the risks. There needs to be a communication established between your GP, PNH team and also possibly the POI & PMS NHS services.
I have now been discharged from the POI & PMS service. However, if there is a need, my GP can write directly to them, and they have to respond in 48 hours as they already have me on record.