FOP Friends: celebrating a decade of support for the fibrodysplasia ossificans progressiva community
When her son was diagnosed with the ultra-rare genetic condition fibrodysplasia ossificans progressiva (FOP), Helen Bedford-Gay set up FOP Friends with her husband, Chris, to bring the community much-needed resources. Helen’s decade of service to the charity was recognised with the award of a British Empire Medal in 2022
by Joe Rumney
The evolution of FOP Friends
Helen Bedford-Gay’s son, Oliver, was diagnosed with the ultra-rare genetic condition fibrodysplasia ossificans progressiva (FOP) in 2009, at just 13 months old. Pre-diagnosis, Oliver had turned-in toes (pigeon-toe), and at three months, developed a swelling on the back of his head, both now recognised signs of the condition.
“We were quite lucky for an early diagnosis. I think the journey to an FOP diagnosis is quicker now than it used to be.”
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic condition which affects around one in a million people.
FOP is caused by a mutation in the ACVR1 gene and is characterised by unwanted bone development across areas such as joints, muscles and connective tissues.
The unwanted bone development progressively locks joints and makes movement difficult.
Flare-ups can first occur in childhood and can accelerate with body trauma.
Signs of the condition at birth include malformed toes and swelling.
There is currently no treatment or cure.1
Oliver’s diagnosis meant Helen and her family needed support and advice to help navigate through unknown territory. To their surprise, apart from small family organisations, there was little proper support for FOP in the UK. In response, the family started fundraising for Oxford University—one of the few institutions researching FOP. Over time, a fundraising group assembled, all wanting to make a difference.
In 2012, that “kitchen-table charity”, FOP Friends, set up “most likely as a coping mechanism after Oliver’s diagnosis”, became a fully registered charity. “We realised that we would need to become a registered charity if we wanted to have an impact, legitimacy, transparency and accountability,” Helen says.
Since then, Helen and her husband, Chris have continued fundraising for the University of Oxford’s trailblazing FOP research, supported many families and patient organisations through the FOP journey and acted as a go-between for pharmaceutical companies and patient groups. “When we turn around and look backwards, we realise what we’ve achieved, but this was never part of our plan. Over time, it the charity just evolved organically to meet the need of our community.”
“When we were told our child had an incurable rare condition, we weren’t happy to just accept that. We thought that there must be something we can do, and FOP Friends was our something.”
In the Queen’s Birthday Honours in 2022, Helen was awarded a British Empire Medal (BEM) for her services to people living with fibrodysplasia ossificans progressiva and their families. “I wasn’t expecting it because I’m a behind-the-scenes kind of person. It’s lovely to get the recognition, but if the award can raise awareness for FOP with the right people, that would be great.”
Helen praises the people who have inspired her in her work, who are not always visible in the news. “There are so many good people out there trying to do good for others who are affected by FOP. That gives me a lot of hope.”
Living with FOP: a balancing act
Helen explains that there are many risks when living with this ultra-rare condition (often misdiagnosed as cancer). Even intramuscular injections are enough to trigger a severe flare-up.
As Helen and Chris have found with Oliver, flare-ups can strike unexpectedly, and this is difficult for caregivers. “As a parent, you always expect to be able to make your child better, but there’s very little you can do.”
“You’re always trying to get that balance between letting your child have a childhood, such as riding a bike, and then keeping them safe from falling over or hurting themselves, because the fallout from that can be catastrophic. Some children even wear helmets for daily activities because of this.” While often difficult to achieve, this balance is important, Helen says.
“If you speak to any adult with FOP, most will be thankful for the memories they had as children. The message is just to do what you can while you can because FOP is going to take it away.”
Helen and her family have access to specialists, but valuable advice has come, via social media, from parents around the world, who she now considers close friends.“I remember asking all these mums online, who I’d never met before, for advice. They aren’t medically qualified, but they’ve got so much experience, understanding, love and compassion. It doesn’t fix anything, but the support is better than the alternative, which is nothing.”
In the coming months, Helen will be looking for funding to introduce a counselling chatline for affected families. She is also hoping that in-person events for the community will return, for the first time since the COVID-19 pandemic.
What the future holds for FOP and FOP Friends
Clinical trials are now taking place for adults affected by FOP, Helen says. “It’s frustrating that everything takes so much longer than we need it to take, but obviously, safety has to take priority.” There are, however, currently no plans for developing treatments or cures for children with FOP.
Aside from treatment, Helen feels there should be a focus on helping healthcare professionals understand the effects on FOP patients and their caregivers.
“There are so many other things that surround FOP—we need easier access to medical experts, services for mental health, dental health and hydrotherapy, and also equipment the patients need for their independence. FOP has a massive impact on the whole family. It’s just gut-wrenching.”
“At FOP Friends, we want to make sure that everyone understands the impact of this condition on our community, our patients, our children, and on our brothers and sisters.”
It’s clear that the FOP Friends team has made a lasting impact on their community and shows no signs of stopping. “We just want to continue to make sure the patient voices are always heard, and our families never feel like they’re on this journey alone.”
“Until we make progress, we’re just going to keep taking small steps forward every single day. And when we get knocked back, we’re just going to keep going… Our ultimate dream is that no one has to live with FOP in the future.”
FOP Awareness Day, 23 April, recognises the discovery of the causative ACVR1 gene in 2006 by the University of Oxford FOP Research Team.2 To create awareness this year, FOP Friends is running their “Fun Feet for FOP” campaign, asking participants to share photos of themselves with painted feet or silly socks on social media.
References
[1] https://rarediseases.org/rare-diseases/fibrodysplasia-ossificans-progressiva
[2] https://www.fopfriends.com/oxford
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