Fibrodysplasia Ossificans Progressiva

Feryal Clark Excerpts

Monday 6th December 2021 Westminster Hall

[Feryal Clark (Enfield North) (Lab)]

It is a pleasure to serve under your chairmanship, Sir Roger. I thank the hon. Member for Carshalton and Wallington (Elliot Colburn) for introducing the debate on behalf of the Petitions Committee. As we have heard, despite fibrodysplasia ossificans progressiva—or FOP—being an ultra-rare disease affecting only one in a million, more than 111,000 people have signed the petition, including 162 people from the hon. Member’s constituency and 108 from my own, showing the high level of public support for the issue.

I pay tribute to the contribution from the right hon. Member for Hemel Hempstead (Sir Mike Penning), whose constituent, Lexi, has recently been diagnosed with FOP, and to Lexi’s mother, Alex, and father, Dave, who have been instrumental in the petition’s success while also raising awareness and money for research themselves. I was pleased to see that there were signatures from across the country, but the support from Hemel Hempstead massively outweighed that from anywhere else, evidencing the incredible drive and leadership shown on Lexi’s behalf. Again, I pay tribute to the right hon. Member. He and colleagues who have spoken today have all highlighted the issues around the lack of funding and the need to raise awareness.

We have heard lots of excellent contributions, so I also pay tribute to my hon. Friend the Member for Wythenshawe and Sale East (Mike Kane) and the hon. Members for North Antrim (Ian Paisley) and for South West Bedfordshire (Andrew Selous) for highlighting their constituents’ cases and the issues around funding and the lack of awareness. It is incredibly shocking that the only source of funding for research into the disease is from FOP Friends, so I also recognise, and thank it, for the work it has done.

As we have heard, FOP comes from mutation of the ACVR1 gene, causing muscles, tendons and ligaments to convert to unwanted bone growth, starting from a very young age. It debilitates and disables, before progressing to cause immobility and ultimately death. While progress happens at different rates, both naturally and because of the trauma it induces, most people with FOP are immobile by the age of 30.

[Sir Mike Penning]

The hon. Lady has touched on an enormously important point that I did not mention in my comments. Lots of people think this is all about trauma—that it is all about bruising or impact—but for a lot of people with this terrible condition, there is no logic. There is no trauma; it just develops and goes through. We have the two sides of it. Trauma, yes, and that is where the research into this particular condition is so important.

[Feryal Clark]

I absolutely agree. There is a need for investment into research of all aspects of this illness. Life expectancy for people with FOP is, on average, 40 years, which is absolutely shocking. It is a horrible condition that nobody would wish on their worst enemy. It is clear that we all agree on the need to act to improve outcomes for the approximately 70 people in the UK who we know of who are suffering as well as for everyone living with it across the world. Thankfully, we know that action can be effective, both in diagnosis and care.

The average age at diagnosis is eight years old, despite the existence of genetic tests to confirm diagnoses and other signs that occur far earlier than that. Usually, the benefits of early diagnosis are common sense—it is just a matter of time, and time spent untreated is time in which a disease or condition can worsen. However, FOP is different. As I and other Members mentioned, trauma generates FOP activity, worsening the condition and speeding up its progress. Any time spent undiagnosed is time when trauma can occur unknowingly, not least in young children, who are not particularly robust or careful; I have a seven-month-old myself, so I know it is really difficult to prevent little babies from moving around. We do not need to stretch our minds to imagine the accidental trauma that could take place in a child with FOP up to the age of eight.

In the first instance, early diagnosis avoids the need for investigative diagnostic procedures that can themselves trigger irreversible FOP activity in an individual, and it does not stop there. Early diagnosis means other adaptations can be made at home and school, and my hon. Friend the Member for Wythenshawe and Sale East spoke of the adaptations made in school for Oliver. It means that alternatives can be used to potentially damaging immunisations, usually injected into muscle; knowledgeable clinical care can be established; and of course, simple behavioural changes can be made to avoid unnecessary trauma in these individuals. Those simple things can make a tremendous difference, yet the genetic test that can make that happen can be requested only by specialist clinicians, of which there are not many. Given how few people suffer from FOP, the likelihood of that request happening prior to diagnosis seems monumentally low, let alone its happening an optimal time. The directory of approved tests for the NHS genomic medicine service will be updated next April, and we heard hon. Members call for the Government to ensure that the FOP test is included. I hope to hear the Minister commit to heed those calls.

I also urge the Minister to explore other avenues, such as technology to improve doctors’ awareness of symptoms or new born genetic screening, which will have impacts far beyond FOP and could help many of the one in 17 people who live with a rare condition. The Government have already set out their vision for this in the UK rare diseases framework, so I do not think anything new is being asked for today—simply for them to follow through on their promises.

Just as with diagnosis, it is often the case that the most difference can be made to rare diseases by improving standards of care. For those living with FOP, that can also be transformative. With so few specialists or experienced clinicians, it is no surprise that levels of care vary, but that does not mean that the status quo has to be maintained. The nature of FOP means that some activity needs urgent action, and of course, specialist assistance is needed throughout. The UK rare diseases framework offers an opportunity here, too. I am keen to hear from the Minister the Government’s plans to improve care for those with FOP universally through that mechanism and to ensure that all those living with FOP now and in the future get the care that they need.

My final point is a broader one that applies to rare diseases in general. We have many of these debates, and quite rightly, because every person who lives with a rare disease has a different experience. Collectively, rare diseases affect as many as 3.5 million people across the UK. Although individual approaches are needed, a collective approach is also important. I welcomed the publication of the UK rare diseases framework, because not only can collective action help to improve standards of diagnosis, treatment and care, but individual approaches can help others. For example, as we have heard, increased research into FOP could help joint replacements, military injuries, burns, sporting injuries, osteoporosis, heart disease, chronic anaemia, and even brain cancers. That principle will apply across the rare diseases spectrum. It is disappointing that after the rare disease framework was published, the then public health Minister confirmed that no new funding had been allocated. My ask of the Minister, and my question to the Government, is simple: how will the Minister deliver on the priorities that the Government set out in that framework?