What’s it like to feel like the only adult with a rare condition in a room of young families? What can parents of children and adults with the condition learn from each other? I met up with Stacy and Shabz for a chat about what living with Fanconi anaemia is like for them

Written by Ellie Dawes, on behalf of Fanconi Hope

Fanconi anaemia is a rare, cancer-predisposing disorder affecting around 150 families in the UK. People with Fanconi are often born with a variety of congenital anomalies, including thumb and kidney abnormalities. Around 80% of people with the condition will have progressive bone marrow failure in childhood, which usually means they will need a stem cell transplant.

People with the condition are much more likely to be diagnosed with certain forms of cancer than the general population. The life expectancy for children with Fanconi used to be startlingly low, but improvements in understanding and in cancer treatments mean that more people are now living with the condition as adults.

Stacy’s daughter Kyra was diagnosed with Fanconi when she was two and a half, and she’s now 12.

Shabz discovered he had Fanconi when he was in his mid 30s, when he and his wife were struggling to conceive and went to doctors to investigate.

Double diagnosis

Shockingly, Fanconi anaemia was right there in Shabz’s medical records—but he’d had no idea. He was diagnosed when he was two, but his parents hadn’t understood the impact of the condition and no-one had ever told him.

“I would always fall asleep as a child. I was tired a lot. But I didn’t have other major symptoms.” Shabz also now knows that Fanconi can have an effect on your mood—which he believes could have contributed to the anxiety and depression he felt when his father passed away 17 years ago.

Stacy remembers assuming Kyra’s diagnosis wasn’t something to worry about. She says: “You hear the word anaemia and you just think it’s not serious.” But once Stacy researched the condition, she realised this was going to have a significant effect on Kyra’s life.

Doctor Google

Both Stacy and Shabz describe a frantic deep dive into Google. Stacy describes reading all the worst effects and outcomes of Fanconi anaemia all at once and feeling totally overwhelmed. “Everything you read feels so imminent. We didn’t think at the time, reading all of that, that she’d reach 12 without any serious implications. It’s a grieving process, you grieve the life you thought you’d have.”

Shabz had a similar feeling when he discovered that, because of the condition, his chances of conceiving a child were extremely low. “It turned my life upside down, basically. I was grieving for something I never had and always wanted. And if I did [manage to conceive], would I just be afraid?”

Feelings of guilt

Shabz told me that he feels like his wife married him under false pretences. If he’d known about Fanconi—the lower life expectancy, and the fact that he wouldn’t be able to have children—he says he doubts they would be married. He knows it’s not rational but “I blame myself for not being able to have a family… I feel like I kept her in the dark.”

Stacy, too, struggles with irrational feelings of guilt. Fanconi is a genetic condition where both parents need to be carriers of the gene for a child to be affected. “I carry the condition, and we’ve created this. Even though you would never have known.”

Stacy also feels guilty when she speaks to other parents of children with Fanconi, which sometimes leads to her doubting her right to be an advocate for people with the condition. “People reach out to me and their kids have just been diagnosed and they already need a bone marrow transplant, or some have kidney defects and can’t eat properly. You have impostor syndrome because your child has been well for so long. You feel guilty that you’ve had a normal childhood… well not normal because it’s not normal for a child to be so used to hospital!”

“A ticking time bomb”

Both Shabz and Stacy characterise Fanconi as a constant source of anxiety. Shabz says “You have bloods [blood tests] and then wait weeks, you feel like a ticking time bomb… It’s challenging mentally, you’re always looking for mouth ulcers, checking for lumps and bumps.”

Stacy agrees. Parenting when any normal childhood illness could turn out to be something much worse can be very stressful: “If your child has a headache or a nosebleed, you jump to the worst-case scenario.”

It’s a level of anxiety that can only have a seismic impact on someone’s emotional well-being. Shabz pinpoints his mental well-being with a telling accuracy: “I’d say I am managing about 60%.”

Stacy has a younger son and worries about the impact on him too. “My youngest is sensitive and I worry how he’ll be when she goes into bone marrow failure. He can also feel left out, when Kyra’s getting lots of attention—like when we’re fundraising.” A likely future bone marrow transplant can put unique pressures on siblings, “He had the blood tests a few weeks ago to see if he’s a match [to be a donor for his sister].”

How much do you tell your family?

For parents like Stacy, whose children are diagnosed very young, there are decisions to make about what to tell your child about their illness, and when.

Stacy says “Me and her dad are on the same page, we just tell her what she needs to know. Her bloods could drop at any time and she’d need a bone marrow transplant, but she only knows up until that point. We don’t look too far ahead.”

Shabz hasn’t explained the full extent of his condition to his mum. “Since dad died, mum’s reliant on us.” I ask how Shabz feels now about having been completely unaware of his condition throughout childhood. “On the one hand, I didn’t have that support at a young age. But if I’d known, I might never have been able to get a mortgage! So finding out later as an adult had its benefits!”

Stacy says, “Kyra is older now, she has her own voice and things she wants to say. She finds hospital days fun! It’s her normal.” A couple of years ago, Kyra donated her hair to the Little Princess Trust, and Stacy explains how this was a gentle way to help her understand that she might lose her own hair when she has a transplant. “She’s like me, she’s got a dark sense of humour. She said “When my hair falls out maybe it’ll grow back black! That’ll be different won’t it?” She’s really resilient. She likes getting involved in all the charity fundraising and awareness, it helps her feel special and important.”

Kyra’s haircut for the Little Princess Trust

Finding connection

Finding people who can share a dark joke with you about mortgages or hair loss is all part of the connection the pair have found through Fanconi Hope. Shabz says “I was really trying to look for other people with the condition and couldn’t find anyone locally. It was only when my haematologist did some research and connected me with Beth Lee at Fanconi Hope, who told me they had a conference coming up.”

Stacy found out about the charity via social media “Fanconi Hope was a big source of support. I saw Louise’s story on social (her parents started Fanconi Hope) and it went from there.”

The Fanconi Hope’s conference is the only opportunity in the UK for people and families affected by the condition to come together, learn about the condition and connect with each other.

Stacy says “Fanconi is not a nice thing. You wouldn’t wish it on anybody. But I’ve met so many amazing people that I wouldn’t have met. Even though it’s not a club we’d wish to be part of, I feel lucky that we are a part of such a great community.”

Shabz found the conference hard going: “I went to the conference hoping to find other adults. But there’s hardly anyone my age with Fanconi. Everyone there was talking about the last person who passed away at 42. I’m 38.” But he also realised how meeting him provided hope to parents of children who had been diagnosed. “That was the reason I decided to volunteer—I know meeting me gives them hope.”

Joined-up healthcare

As advocates who represent their condition on the Better Together community reference group, Stacy and Shabz hope they can connect more people for that support—and perhaps improve patient’s experiences in the healthcare system too.

The charities’ recent Rare Voices report reflects a need for more joined-up health care experiences, and this is something Stacy finds frustrating. As a single mum of two, managing the condition is a huge amount of extra admin work: “Kyra’s under six or seven different services. I have to contact each one to tell them I’ve moved house. There’s no information sharing. When we go to Blackpool to see the paediatrician, the appointment is just for me to tell them about all the medical stuff that’s happened to her over the year, I have to repeat it all in front of her, which I don’t like.”

Shabz finds the same issue in adult care. “The GP doesn’t communicate with the haematologist. I have to go to the GP to get bloods, but they can’t send the GP the information about what test you need.” Shabz also finds it difficult when he gets differing advice: “The haematologist I spoke to at the Fanconi Hope conference said I needed screenings that my haematologist said I don’t need.”

Finding each other to talk about all these similarities has clearly been a huge benefit to both Stacy and Shabz of being involved with Fanconi Hope and volunteering for the Better Together project. They hope more people can find their small and mighty patient organisation, which can bring vital connection and companionship. As Stacy says: “Fanconi Hope brings families together to ensure we never really feel alone in this journey.”

This is the third in a series 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: Please get in touch if you would like to share your own charity and advocacy story: hello@rarerevolutionmagazine.com

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