Hertfordshire girl with rare condition gets funding promise

Lexi, from Hertfordshire, has a one-in-two-million condition called fibrodysplasia ossificans progressiva – or FOP for short.

Knocks, bumps and even injections could prove life-limiting for people with FOP, because their bodies replace muscle and tissue with bone over time.

The Hemel Hempstead resident's MP, Sir Mike Penning, brought his two-year-old constituent and her family to Parliament, on Thursday September 7, where health minister Will Quince promised to meet with people who live with FOP.

MPs told Mr Quince how vital rare disease research is, because incorrect treatments such as amputation and intrusive diagnostics can “progress” rare conditions.

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They also warned one trial, looking at whether a drug called saracatinib can be used to treat FOP, was paused during Covid-19 and has struggled to resume post-pandemic, with a risk some efforts could “go to waste” if the project can’t return in full swing.

Sir Mike said: “The condition is probably the biggest nightmare for any parent, or anybody who loves a child.

“Let me give an example: I played rugby, and I bruised very regularly. For those who have FOP, there is a good chance that that bruise will turn to bone.

"Most of us want our young children to be inoculated. If someone with FOP has an injection there is a good chance that that trauma will turn to bone."

The Conservative MP added: "There are young people in the Gallery this afternoon who have the condition. What does it mean for them? It means that their whole life is different.

"Do we want to wrap our children up in cotton wool? No, of course we do not. But they have to be extremely careful about inoculations, bruising, sport, and rough and tumble."

Sir Mike said "learning from other people who are in the same situation and not having to reinvent the wheel every five minutes" is vital to beating FOP.

Mum Alex, dad Dave, Little Lexi and brother Ronnie (Image: Robins Family)

Jim Shannon, Democratic Unionist Party (DUP) MP for Strangford in Northern Ireland, said: "Raising awareness is how we will improve treatment for the condition." He said: "Being aware of what to look out for is crucial: shortened or turned-out toes in young children raise concern, but if combined with tumour-like swellings, FOP is almost certain.

"It has also been raised that many patients are given biopsies and misdiagnosed with cancer. Others have had limb amputations, which perhaps was not the right way forward, but a response to not being quite sure what the problem is." Mr Shannon added: "This debate is a request for hope and for progress for our constituents."

Liz Twist MP, Labour MP for Blaydon near Newcastle, worried research paused as a result of Covid-19 could result in "wasted opportunities" in research. She said: "Like much of the research into rare conditions, FOP research is likely to have far-reaching benefits for more common illnesses, such as osteoporosis, childhood brain cancer and heart disease."

Will Quince MP is a minister in the Department of Health and Social Care. The Conservative MP for Colchester said: "These diseases and conditions have wide-ranging impacts, not just on sufferers’ physical health, but on their mental health and on their involvement in the community.

"That is why it is crucial that those affected by this condition receive the best possible care, from swift diagnosis to treatment, to improve their quality of life as diseases and conditions, sadly, progress. To do that, it is vital that the UK harnesses our research prowess.

"Today’s debate has largely focused on the power of research and how it is often the key to unlocking so much. Our universities, scientific institutions and healthcare system very much lead the world in this space—we often say that we are world leading in lots of areas, but research is certainly one area where we are.

"They have enormous potential to develop solutions to improve the lives of people living with rare conditions, including FOP. Let me be clear that the government are committed to funding this research."

David, Alex and Lexi Robins at the Houses of Parliament (Image: Robins Family)

Mr Quince added the Medical Research Council, a government body, has funded three FOP-linked projects since 2010. He said a UK rare diseases framework in 2021 identified four priorities - faster diagnosis, increasing awareness, coordinated care and specialist care - which was followed up with a developing "action plan".

Alex and David Robins, Lexi's mum and dad, came to Parliament on September 7. When Lexi was born in 2021, doctors told Alex and David their child had bunions. But genetic testing confirmed her condition was FOP at just a few months old.

David told the Local Democracy Reporting Service: "It's a lonely experience. There are so many rare diseases together, but they are very scary on their own.

"An important point in the debate was making sure the diagnosis process is sped up and less risky. Poor actions and diagnosis can progress the conditions."

He added: "To have Lexi in a debate today, with the minister and the backbenchers who spoke on our behalf - it was very positive. They made some commitments we hope they see through - a meeting and to get FOP funding specifically, and to get FOP on the registers as well.

"We can't blame anybody for this not being done already, because it's such a rare disease nobody would know about it unless they are presented with it."

Alex said anybody who is going through a similar experience said the only way to get answers is to "keep going and going and going". She said: "Face it head on. That's what we hope to do.

"It's really important anything we do helps the next generation of people diagnosed. We just want to say a 'thank you' to everyone who has helped us, signed petitions, everybody who attended and watched, and the medical professionals who are working towards treatments or cures."

Chris Bedford-Gay and his 15-year-old son Oliver, who has FOP, travelled from Manchester to London. Chris, a founding trustee of FOP Friends, said securing Oliver's diagnosis was an "epic journey".

He said turned-in toes and tumour-like swellings were the warning signs. "We're fighting the same battles as an awful lot of other rare condition communities," Chris explained.

"We all need to be pushing in the same direction because there are a lot of the doors we can all push against. We need an awareness of FOP and rare conditions, and the difference it will make to a large population by tackling them in general."