On the day Claire discovered she had another rare condition, she realised that everything she thought she knew about her illness was wrong.

Written by Ellie Dawes, The Aplastic Anaemia Trust

Claire was diagnosed with aplastic anaemia in 2016, in her mid-twenties. “My first reaction was confusion. I’d never heard of it. On the one hand, it sounds like anaemia, which sounds like you just need to have more iron. But on the other hand, you’re there in a cancer unit!… I thought, what am I doing here?”

Aplastic anaemia is not a cancer – but it’s also not at all the same as being anaemic. Its a rare and life-threatening bone marrow failure, affecting two in a million people. Claire’s bone marrow had stopped working, and wasn’t producing blood cells properly. 

When she was first diagnosed, Claire’s aplastic anaemia was mild, so she was monitored regularly. It was only in 2021, when she had a rare and serious reaction to a vaccine, that Claire started to need regular blood transfusions and began treatment.

Claire was given a variety of immunosuppressive treatments to stop her immune system from attacking her bone marrow so it could start working again. Some came with harsh side effects. With low blood counts, Claire was experiencing extreme fatigue and shortness of breath. She was also very ill from the vaccine reaction.

Anxiety

Before needing treatment, Claire had been doing well at work as an accounts receivable manager. She was confident standing up to present and excited about an international merger. But now she was off work, her anxiety was spiralling. “Suddenly I was so closed off, my confidence was declining, I didn’t want to leave the house.” 

She started having panic attacks, although she didn’t know what they were. “I could be sitting down on the sofa, not worrying about anything – suddenly my heart’s beating like anything and I’d have a dry mouth. I’d think – why is my body reacting like this?” Claire has a very close family and supportive husband – but she was feeling increasingly isolated and lonely.

Connecting through volunteering

In the evening once a month, Claire would join an online panel  of people with similar and related conditions. Six charities had come together to deliver the Better Together for Healthy Bone Marrow project, funded by the National Lottery Community Fund, and The Aplastic Anaemia Trust had asked Claire to join the panel.

The thing that struck Claire in these meetings, was how much the level of support you received was dependent on your condition’s charity’s size. The Aplastic Anaemia Trust is a small charity, but they have a paid support team. “I was going to Zoe’s coffee morning on a Tuesday, right by the hospital. The AAT have a support line and Facebook group where you can ask questions. Other people I met on the calls, for their condition they could email a volunteer, on the other side of the world, and then just wait for that one volunteer to be available to email you back.” 

The group had been formed to provide insight and feedback on the work the charities were doing together. But Claire found that the meetings became important sources of support themselves. “We were originally meeting every other month, but for people who don’t have anyone to talk to with their condition – that isn’t enough. We put in extra meetings just to have a chat and see how people were doing.”

The bombshell

In November, waiting to hear if her latest treatment had worked, Claire had some shocking news. “I went into the hospital, and I could tell something was off. My consultant had a different manner… She told me they had found genetic mutations in my blood. She said I had another, different rare condition, and it meant that my illness was inherited. I was really confused because I’d had tests before and been told I didn’t have the inherited version of aplastic anaemia.”

In fact, Claire learned that she had Dyskeratosis Congenita (DC), an even rarer condition affecting just one in a million people. A person with DC’s telomeres, which protect the ends of their chromosomes, do not repair themselves properly. “So everything I’d been told before was incorrect. It was the opposite. I shouldn’t have even had that treatment.” Claire’s aplastic anaemia wasn’t a result of her immune system attacking her bone marrow, it was a symptom of her DC caused by the alteration in her telomere gene.

But unlike her previous diagnosis, Claire had heard of Dyskeratosis Congenita before – because it was one of the other conditions represented in the Community Reference Group. She’d been chatting for months with a volunteer from a tiny charity supporting people living with Telomere Biology Disorders – DC Action. 

A new outlook

The new diagnosis was a bombshell. DC is not only inherited, it’s also a condition without a cure.  “Having a rare condition changes your whole outlook on life. But now this has turned everything upside-down all over again. When I was having [treatment for the aplastic anaemia] I thought – when this works, I’ll feel better, I’ll be able to do more. Now I don’t know if I’ll get worse or better.”

Claire has a new perspective. “I don’t want to go back to my old job, I want to do something that will make a difference and help people.” Claire hopes the volunteering she’s doing for the Better Together project could help her to work for a charity and help them become better connected with the teams in hospitals. She’s also keen to leave Bradford, where she’s lived her whole life, but she needs to be near Leeds hospital where she can be seen by her specialist team. 

“What I want to do, I need to do it now. I’m not waiting.”

This is the first 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

Claire said: “I did not realise things such as anxiety were so high in patients with rare disorders. As someone who has two of these rare diseases, reading the report made me feel emotional and really connected.”

Editor’s note: Please get in touch if you would like to share your own charity and advocacy story: hello@rarerevolutionmagazine.com

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