Written by Ellie Dawes, on behalf of DC Action

Paula lives with dyskeratosis congenita (DC)—an ultra-rare genetic condition affecting one in a million people. “It’s a scary disease, like being on a seesaw,” Paula explains. “Because your bloods go up and down.” There is no cure for DC, but there are good days, and bad days.

Good days

Paula has a busy house where there’s often someone walking past playing music from various decades (she has five children and two stepchildren, ranging between the ages of 15 and 33). “There’s always someone playing music in the house.” She also has a houseful of pets: her dog Vinny barely leaves her side, and there are Tilly the tortoise and Cookie the African Grey Parrot.

On a good day, Paula gets out and about. “Once I’ve had my tablets in the morning, I’m on the go and happy to go out.” Her mobility is the biggest barrier to her living a more normal life. “If I was in America I’d be having a hip replacement,” she says. At the moment, she is mostly confined to a wheelchair and needs someone to take her if she goes out shopping.

She loves going up to their allotment with her family, where they have chickens who lay eggs every day. “It’s only ten minutes up the road, but it feels like a holiday.”

Despite having so many family and loyal pets, having a rare condition often feels lonely. Paula has been put in touch with a couple of other people in the UK who have DC, and speaking to them is a huge source of comfort.

She also sits on a panel as a volunteer. Six charities have come together to deliver the Better Together for Healthy Bone Marrow project, funded by the National Lottery Community Fund, and the charity DC Action asked Paula to join the community panel to represent people living with DC. Paula thinks it’s important for the charities to work together, because for people like her with multiple rare conditions they don’t feel like multiple conditions. She explains, “I didn’t know aplastic anaemia wasn’t DC. I didn’t know they were separate. My aplastic anaemia was caused by the DC so for me, it was all the same thing.”

Being on the panel has been a huge source of support for Paula, and she loved chatting to the other people in the group. “Their support is over the top.” Paula used to be a support worker for mental and physical disabilities, but her health meant she had to give it up once she became dependent on regular blood transfusions. When Claire, another group member, was diagnosed with DC, Paula was able to give her a book of information that she’d had provided by a US charity, as there is so little information available.

“I call it my Bible. Claire was talking about reading it, I said don’t read any of it until you need it. You just look up things in the index at the back as they come up. If you read about the bad things, the worst-case scenarios, that can get you down.”

Paula’s favourite thing to do is to make jewellery, which keeps her occupied. She crafts beautiful necklaces, bracelets and earrings, and would love to have a 3D printer to create beads. Even on a bad day, when she’s confined to bed, Paula describes stringing beads together to make something beautiful.

Bad days

Paula hates having to go into hospital. “Hospitals get to me the worst, I don’t like enclosed spaces or the crowds. I breathe my way out of the panic.” On the day we speak, Paula’s nose is covered in blisters from wearing an oxygen mask during a recent hospital stay.

A bad day can be made worse by the lack of joined up care for ultra rare conditions like DC. Every appointment is made more difficult by the complexity and rarity of the condition. Paula needs to have blood tests and transfusions, which wouldn’t be necessary for other people. Paula describes a recent appointment in the oncology department—she has cancerous cells which need to be removed. But when she arrived for the appointment, the necessary blood tests and platelets hadn’t been planned in, and there was no bed available, so she waited in her wheelchair in the waiting room for seven hours.

Despite being first on the list for the removal of the cancer cells, Paula was eventually told they’d have to reschedule, and still hasn’t been given a new date for the procedure. “I hate it, it’s an obstacle every time, even at the dentist. The consultants don’t communicate. Information isn’t shared between teams. When I go to a different hospital, I have to have blood tests done all over again.”

DC is so rare, there’s a lack of expertise. “So many doctors say, “Who’s your doctor for your DC?” I haven’t got one! The doctors don’t understand, they can fix your blood, but can’t tell you much about DC.” A haematologist she was seeing for a long time at one hospital used to provide regular contact—“he was like a comfort blanket”, Paula says—but he’d moved to a different hospital to focus on research, leaving Paula feeling adrift.

“The new doctors put me in an outpatients clinic but my bloods have dropped. I haven’t seen a doctor for eight weeks, which is the biggest gap since the coma.”

Last year Paula twice fell into a coma. She was in hospital for weeks, unable to see her pets. “I had to learn how to walk and use my hands again.”

The charity DC Action recently let Paula know about some doctors who are experts nationally in DC so she’s hoping to gain more access to expertise in her condition.

Since the comas, Paula’s dread of hospital settings has got worse. “On a recent away day with the Better Together group we did a meditation together and I had a panic because I closed my eyes and felt like I couldn’t open them again. It reminded me of being in the coma.”

On a bad day, the impact on Paula’s mental health and the loneliness can get her down. She feels very lucky to have such a supportive family. “My husband is awesome,” she says. But sometimes she doesn’t feel like talking about her feelings, “It pulls you down emotionally.”

The physical effects of DC can also have a big impact on your mental health. On a bad day, Paula struggles with extreme fatigue: “I get tired, my body’s working harder than the next person I guess.” If she doesn’t manage to have a nap in the afternoon, she can end up very low on energy.

When her blood counts are low, her immunity is low too, and this can mean she is isolated from her family and friends as she’s at a high risk of infections. “I’ve had to stay away from people, I’ve not seen my mum for eight days, because she has a cold.”

Having good days and bad days can make it hard for others to understand what Paula is going through. “Because it’s something that doesn’t show, it’s all inside, people can’t see how you’re feeling. But your get-up-and-go just goes.”

Paula’s spirit and pragmatic outlook are infectious. She says, “Things are hard work, but we get on.”

This is the second of six articles that we will share during 2024 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

Editor’s note: If you would like to share your own rare disease story, please get in touch: hello@rarerevolutionmagazine.com.

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