What is FOP?

FOP is one of the rarest diseases known to medicine, affecting around 1 in a million people.  There are around 70 known people with FOP in the UK, and only 900 worldwide.

Most cases of FOP are new, caused by a fault in the ACVR1 gene.  This gene mutation happens at conception: it is an accident of nature.

97% of those with FOP carry the classic mutation of the disease.  The other 3% have what is known as a variant mutation.

FOP is the only known disease where one body system turns into another.  Soft tissue turns into hard bone, creating a second skeleton. 

FOP can steal a child’s independence and mobility, right at the time they should be gaining it.

A baby with FOP may have restricted movement in their neck and shoulders from as early as birth.  Babies with FOP typically don’t crawl due to fused vertebrae in the neck.

FOP is both variable and progressive.  This means that it affects different people in different ways at different points in their lives.  No two people are alike.

Swellings due to the flare-ups are often misdiagnosed as cancer, which can lead to unnecessary and potentially harmful procedures.

The journey to diagnosis, from first symptoms, takes an average of 1.5 years (for those diagnosed since 2016).  52% of people with FOP receive an initial incorrect diagnosis.

FOP causes ribbons of bone to grow throughout the body, often from the neck downwards.  This takes away the mobility, joint by joint, of the person living with FOP.

A flare-up is a swelling on the body which is painful and often warm to the touch.  Flare-ups can last for days, weeks, or months.  They can also move around the body.

Any trauma to the body of someone who is living with FOP, can trigger a flare response from the FOP gene. This includes a knock, bump, fall, intramuscular vaccination, surgery, or even a simple virus such as flu.

Unfortunately, the P in FOP stands for ‘progressive’: it won’t get better over time.  There is also no way of knowing when it will strike.  It is often likened to ‘waking a bear’.

When a flare-up subsides, often new bone growth has occurred.  When this happens across joints or within a muscle, it progressively restricts the person’s movement – locking that joint forever.

It is not possible to remove FOP bone as the surgery can trigger further flare-ups and subsequent bone growth, thus aggravating the FOP more.

Bone growth in the muscles of the face and mouth can ‘lock’ a person’s jaw, making eating, talking and dental care extremely difficult.

Children with FOP often find that they lose movement in their shoulders, neck and arms at a young age which makes playing with their friends very difficult.

Children with FOP may not be able to take part in sporting activities as the risk of an injury through a fall and triggering a flare-up is simply too great.

Around 31% of people with FOP have partial or full hearing loss, due to the fusion of the bones in the ear.

Dental treatments carry a high risk for FOP patients so preventative care and specialist dental attention is required.

The disability caused by the progression and bone growth of FOP is cumulative and increases year on year, severely liming their ability to perform the most basic tasks of daily life.

A flare-up can occur spontaneously…  a child can go to bed one night, then wake up the next morning having lost movement in their arm.  Forever.

When people lose movement, it can mean they are unable to carry out simple everyday tasks such as washing, feeding, toileting and dressing independently.

FOP does not affect intelligence.  People with FOP do well in school, with many going on to university and having successful careers.

FOP can significantly shorten a person’s life expectancy but…

Research into FOP brings us HOPE.

There are a number of drugs in the various stages of clinical trials, with some reporting very positive results.

The research into FOP has far-reaching benefits and implications for more common illness such as osteoporosis, childhood brain cancer and hear disease.

Research into FOP is just the tip of the iceberg.

Research into RARE benefits EVERYONE.