Fibrodysplasia Ossificans Progressiva

Karin Smyth Excerpts

Thursday 7th September 2023 Commons Chamber

[Karin Smyth (Bristol South) (Lab)]

It is a pleasure to be here this afternoon. I thank the Backbench Business Committee for granting the debate and pay tribute to the right hon. Member for Hemel Hempstead (Sir Mike Penning), who secured it and who has tirelessly campaigned on this issue with his constituents and the charity FOP Friends, who I understand have joined us today in the Public Gallery. I pay tribute to the families’ tenacity and bravery in raising the profile of this rare condition, and in continuing to do so. I also thank my hon. Friend the Member for Blaydon (Liz Twist), the hon. Member for Strangford (Jim Shannon) and the hon. Member for Inverclyde (Ronnie Cowan) for being here this afternoon.

One of the great privileges of our role here is learning from the experience—sometimes the very difficult and harrowing experience—of our constituents, and learning from them about subjects that we might not ordinarily have come across. I have certainly learnt a great deal from preparing for the debate, and also this afternoon. I am grateful to the right hon. Member for Hemel Hempstead for helping me to understand the impact of this condition, which he has done so eloquently and powerfully today on their behalf. I know that he worked with my office and other offices to ensure that all of us were well informed.

As we have heard, this is an ultra-rare condition, affecting only one person in 1 million, and there is currently no cure. However, we also know that what action can be taken is effective, both in diagnosis—which is crucial—and in care, and that people can some people can enjoy have good general health and reach old age, which I have been told is now over 60. It is my birthday this week, so that is quite close. I do not think it is old age, but they can certainly live for quite some time.

Early diagnosis is vital to managing the progression of FOP, and the average age of diagnosis, as I understand it, is around eight years old—as we have heard, the early signs include under-turned big toes—but greater awareness would mean earlier diagnosis for children with FOP. Families who understand that something is not quite right would be comforted to have that diagnosis. As we know, young children are not particularly careful or robust and, although we understand the dangers of immunisations into muscle, it would be a positive step forward for FOP.

Fifty-two per cent of people with FOP initially receive an incorrect diagnosis, creating more delays in care, with swellings due to flare-ups often being misdiagnosed as cancer or other diseases, which leads to unnecessary and potentially harmful procedures.

[Sir Mike Penning]

There have been limb amputations, and the damage that does to the muscle means it almost invariably turns into bone. Surgeons do not amputate a limb for the sake of it, and with the best will in the world, amputation is often more damaging and does not help the patient; if anything, it makes it worse.

[Karin Smyth]

I thank the right hon. Gentleman for his clarification about that, which adds to the trauma that people are living with.

A genetic test can confirm the diagnosis, and we expect to hear whether the Minister has made any assessment about including the test in the national genomic test directory for rare and inherited diseases. Given the commitment in the rare diseases action plan, it would be helpful if the Minister outlined what discussions he has had on new-born screening for FOP and the inclusion of digital education resources relating to FOP. As we have heard, there are only three knowledgeable clinicians in the UK. Access to information and guidance on FOP would make a huge difference for all those living with this condition.

Accepting that the Minister and I are the B team, and scientists would have been preferable, it is important that there is good care to help people with the condition who may be immobilised at a fairly young age. Care for FOP and other rare diseases is specialist and complex, and it reaches across the health and social care systems. I am sure I speak for him when I say that we are both very pleased to talk about the impact on the wider health service. We know that we are very short of care staff more generally, which is not helpful for people who need care or their families. Those living with this condition are vulnerable to some of the wider issues in the care service.

More generally, it would be helpful if the Government could outline more support in the workforce plan, including in social care. Without an increase in the number of care workers, those living with rare diseases such as FOP will struggle to get the care they need. That is why we think it should happen, and it would be helpful to hear what steps the Government are taking to support the care workforce for people living with this condition.

We have heard that research is the greatest hope for those living with this condition, and the right hon. Member for Hemel Hempstead has argued passionately, as have others, for the need to continue funding the STOPFOP trial. The amount of money raised by FOP Friends and the progress that has been made are an incredible achievement. We know that research into FOP will have benefits and implications for more common illnesses, such as osteoporosis, childhood brain cancer and heart disease.

Obviously, we are all pleased to hear that, after a very difficult and uncertain two years of frankly unnecessary negotiations—which have halted or delayed collaboration and research—we will now be involved in the Horizon programme, which will be crucial to making progress in this area. A key commitment in the rare diseases action plan is to improve the Be Part of Research platform to make it easier for people living with rare diseases to participate in research, should they choose to do so. Again, it would be helpful to hear from the Minister what the Government are doing to support those who wish to take part in the trial.

As we have heard, FOP can be devastating. The families want to live in good health and live their best life with their loved ones. I give my heartfelt commendation to those living with this condition and their families. I am pleased that people have come here today and I am sure that that visit to Downing Street was a really positive. The fact that we are debating this issue today is a testament to their hard work and commitment.