In conversation with two young women living with ultra-rare paroxysmal nocturnal hemoglobinuria (PNH)

Written by Ellie Dawes on behalf of PNH Support

“I was speaking to my CNS (clinical nurse specialist),” says Virginia, “and she says more and more people are being diagnosed because there’s increased awareness and better diagnosis.”

Virginia and Jovita are both 26. Both were diagnosed in their late teens with PNH, or paroxysmal nocturnal haemoglobinuria, a rare condition in which a person’s red blood cells break down prematurely.  

PNH is an acquired condition and symptoms include fatigue, abdominal pain, back pain, blood clots, breathlessness, bruising, difficulty swallowing and jaundice.

Jovita and Virginia joined me for a chat about how living with this chronic condition in your late teens/early twenties affects your life.

The ups and downs

“You can live a relatively normal life with PNH—but it’s not always straightforward.” says Virginia. “There are things you constantly need to consider and manage in order to do that.”

Jovita nods, “We can lead normal lives but there are day-to-day issues. We have struggles that the people around us don’t really see and aren’t aware of. The fatigue is the worst, I really struggle to get up in the morning. Last week I was doing some outreach work at a primary school, it was great but so exhausting and I had to have a bed day afterwards. The thing is that people don’t see the days you have to spend in bed.”

Virginia agrees—one of the issues with the condition is that people see you coping fine on a good day, and think you’re fine. “People don’t realise what the ups and downs are like. You might have a really long difficult period!”

Jovita says, “Yes—chronic illness is hard for people to understand because it fluctuates. People expect you to get ill, go to the doctor and then get fixed—not to get better and then worse. Why would the same thing have a worse effect on you at a different time? They don’t get it.”

Jovita

Unexpected changes can have a big impact

The unpredictability of how the condition will affect them, what treatment they’ll be on, is a huge factor as young women in their mid-twenties—a time of your life when you’re at the start of your career, building a reputation for yourself and perhaps not at the most stable part of your life financially. Virginia felt this keenly this year when a clinical trial she was on closed with little warning, and the fallout impacted her ability to do her job as a social researcher:

“I was on a clinical trial in January 2024 and had less than a month’s notice that the trial was closing and I had to change treatment. I was then anaemic for 5-6 months. I couldn’t go to the office, but I was on a fixed-term contract and had to keep working full-time as I was afraid my contract wouldn’t get extended otherwise. It can really impact you financially.”

Jovita was diagnosed when she was 17, which she says was straightforward. Virginia had a different experience, she had health issues since she was 13, and was diagnosed with refractory cytopenia of childhood (RCC), so she had been in and out of hospital throughout her teenage years. She was told she had PNH when she was 22.

Jovita says, “You’re trying to establish yourself in your career—it’s a time of life where everything is precarious. I was diagnosed when I was about to go to uni. It leaves you trying to find your footing at a time of life that’s already difficult.”

I ask Jovita and Virginia about the transition from paediatric to adult care, but Jovita says she was always under the adult service.

Virginia explains, “I was diagnosed in Italy two weeks before moving to the UK.” It’s encouraging to hear how joined up this process was between Virginia’s Italian and UK clinical teams. “Doctors had kept me in paediatric departments until I was 16, or even older, older than I should have been. (In Italy you should start adult care around the age of 14). When I moved around, I found that doctors kept in touch. My doctors in Italy knew a team of PNH specialists here in the UK and referred me to them right away. When Jovi and I went to the European Haematology Association Congress earlier this year, because we were doing patient advocacy training, I saw all my doctors, including the Italian ones.”

However, while communication between these experts in the condition was great, both women would like to see better communication between healthcare professionals in general. “There’s a lot of miscommunication between your specialist doctors and GPs (general practitioners), which is hard for patients to navigate” says Virginia. “It can be hard to advocate for yourself.”

Virginia

Family and friends

Living with PNH can affect your relationships. Leaving the country has meant that Virginia is careful about what she tells her parents back home: “There’s a part of me, because I’m away, that doesn’t want to make my parents worry. I don’t like to tell them too much unless it’s serious.”

Jovita has found otherwise: “It’s the opposite for me—I live an hour away from my parents. My mum’s basically my health manager! I think it’s made them more protective of me. I have been through various health crises since my diagnosis and I think it’s made us closer.”

However, the two women have found the impact on their friendships has been similar. Virginia says her PNH drives her to build closer friendships. “Some friends became closer because they made a real effort to understand. They don’t take it personally if I’m too tired to go out. Social events are reduced when you have this kind of symptom. We’re prone to infections, so you really need to know and trust your friends to tell you if they have a cold, for example, because that’s a risk to us.”

Both Jovita and Virginia have recently been on sailing trips with the Ellen MacArthur Cancer Trust. Virginia says, “I didn’t know that we could apply, you think it’s only for people who have had cancer, but it’s also for people who have bone marrow related conditions like ours.”

The pair enjoyed several days of sailing at opposite ends of the UK—Jovita around the west coast of Scotland, and Virginia around the Isle of Wight. “It was such a nice place. I wasn’t expecting it to be so nice!”

Jovita says, “It connects you with people who have the same kind of experience. It’s great to have time to relax with people who get it.”

Another way to find that connection is via the specific charity for your condition. Virginia has just become a trustee of PNH Support and would really recommend getting involved. “We have great support from PNH Support, there are lots of opportunities and events to connect with other PNH patients.” Jovita has also been a strong advocate for PNH Support, volunteering and fundraising over the last few years.  Being connected via the charity also gives Jovita and Virginia the opportunity to speak up on issues that matter to patients.

Living with PNH clearly presents many challenges, but with Virginia just confirmed as a charity trustee, and Jovita working towards a PhD looking at medieval animals, it’s clear that neither are willing to let those day-to-day struggles hold them back.

This is the sixth in a series of six articles that we will share to shine a light on six small and micro charities working collaboratively with funding from The National Lottery Community Fund. The charities have come together as part of the Better Together for Healthy Bone Marrow project to build organisational resilience and support the resilience and emotional well-being of their communities.

The six charities are:

• The Aplastic Anaemia Trust
• Congenital Anaemia Network (CAN)
• DC Action
• Fanconi Hope
• PNH Support
• SDS UK

Collectively, the organisations in the Better Together for Healthy Bone Marrow Alliance recently published the Rare Voices report that highlights the impact of living with a rare condition affecting bone marrow. You can read the report or order a free print copy at super-rare.org/report

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