More funding is vital to help sufferers of rare and debilitating condition fibrodysplasia ossificans progressiva
Imagine if your body started to turn into bone. That is the reality for people living with fibrodysplasia ossificans progressiva (FOP), an ultra-rare and debilitating condition where soft tissue turns to bone.
My first encounter with FOP was when a truly delightful young lady – then all of nine months old – stole my heart during a constituency surgery one Friday afternoon.
FOP is caused by a mutation in the ACVR1 gene, the gene responsible for regulating the growth of bone. In people with FOP, this mutation causes the body to convert muscles and other connective tissue to bone. This leads to the formation of bridges of extra bone across the joints, progressively restricting movement, and finally forming a second skeleton that imprisons the body in bone constricting other vital organs. There is no cure.
One day a person may be able to turn their head or move their arms, the next they become frozen, forever
FOP progresses unpredictably: one day a person may be able to turn their head or move their arms, the next they become frozen, forever, in a locked and contorted position. Photos of children with FOP can be truly heartbreaking.
On 7 September I am leading a debate in the House of Commons on FOP. I have two main reasons for calling this debate.
Firstly, I want to raise awareness. FOP progresses through episodes of inflammation or swelling known as flare-ups. These flare-ups can last several weeks, be very painful and result in permanent loss of movement or deformity. A flare-up can be triggered by any trauma, a bump or knock, an immunisation, a virus or even a growth-spurt, so the earlier a person is diagnosed the better as they can try to avoid some of these triggers. Sadly, in the past, many people have not been diagnosed early and they have been subjected to cancer biopsies or other intrusive procedures such as bone removal which have only exacerbated the situation and themselves caused flare-ups.
However, there is a very simple indicator. A common trait of people with FOP is characteristically malformed, turned-in big toes or “FOP toes”. This is very clear, even at birth. We just need to make sure that every GP and doctor working in a paediatric setting has heard of it. FOP toes are often misdiagnosed as bunions – something that initially happened to my young constituent.
My second ask is, inevitably, for research funding. Recent developments in gene-therapy and drug treatments offer real hope.
A team at Oxford University is taking part in a drug trial of an existing drug, Saracatinib. Originally developed as a cancer treatment, the team believe the drug can block the activity of the ALK2 protein that triggers bone growth.
There are only about 60 cases in the United Kingdom so with such a small number of people eligible for the trial, the UK has teamed up with the Netherlands and Germany to find the 20 people needed to take part. The trial was initially funded by Horizon 2020, but Covid got in the way and much of the money was used up on fixed costs during the lockdowns. The team remains supported by FOP Friends, a charity set up and run by an FOP family, but at over £125k per year it is a lot for these families to bear.
The trial now needs a real injection of funding in order to complete and, hopefully, extend to children to help my constituent.
It would be a terrible waste not to complete this trial through lack of funding. I am hopeful that the new agreement to join Horizon Europe is the miracle we need.
I urge MPs to join me in the debate. We must make a difference for people with FOP.
Sir Mike Penning, Conservative MP for Hemel Hempstead
Get the inside track on what MPs and Peers are talking about. Sign up to The House's morning email for the latest insight and reaction from Parliamentarians, policy-makers and organisations.