The patient journey | Fibrodysplasia Ossificans Progressiva (FOP)

08/12/21 • 26 min

Chris and Helen Bedford - Gay are the founders and patient advocacy leaders at FOP Friends charity. In 2009 their first child, Oliver, was diagnosed with FOP, aged just one.
FOP Friends’ aim is to further research into Fibrodysplasia Ossificans Progressiva (FOP) and related conditions by supporting current and future research projects.
In this podcast they talk to us about the patient journey and their experiences as both parents of a child with FOP and patient advocacy leaders.

FOP is an ultra-rare disabling genetic condition and is one of the most disabling conditions known to medicine. FOP causes the soft connective tissue of the body to turn into new bone. When that occurs over or near joints, or within a muscle, it restricts the person’s movements. This new bone, or ossification, can mean that the sufferer is no longer able to move the joint. Once movement has been lost in a part of the body, it is not possible to remove the new bone as that can aggravate the FOP and trigger further bone growth.
FOP is characterised by congenital malformations of the big toes and progressive heterotopic ossification (HO) in specific anatomic patterns. FOP is the most catastrophic disorder of HO in humans. Flare-ups are episodic; immobility is cumulative. A common mutation in activin receptor IA (ACVR1), a bone morphogenetic protein (BMP) type I receptor, exists in all sporadic and familial cases with a classic presentation of FOP.
Chris and Helen discuss how educating the wider population ensuring an early diagnosis, is key to preventing further heterotopic ossification.
There is currently no treatment for FOP. As a patient organisation investigating all avenues of research and finding more FOP doctors, who are willing to be educated about FOP, is essential.

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The patient journey | ATTR (transthyretin) amyloidosis and wild type amyloidosis disease

Vince Nicholas and Paul Pozzo are patient advocacy leaders at the UK ATTR amyloidosis Patient Association. Each live with a variant of the rare disease amyloidosis; ATTR (transthyretin) amyloidosis and wild-type amyloidosis, respectively.
In this podcast they talk to us about their patient journey and their experiences as both patients and patient advocacy leaders.

Amyloidosis is a protein disorder in which proteins change shape, then bind together and form amyloid fibrils which deposit in organs.
As amyloid fibrils build up, the tissues and organs may not work as well as they should. Amyloidosis is a long term (chronic) disease. The severity of the disease depends on which organs are affected which can be the heart, blood, or liver,which may necessitate a liver transplant.

Vince and Paul discuss how educating the wider population on the symptoms of amyloidosis, ensuring an early diagnosis, is THE key to managing the disease before it becomes too advanced.

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The patient journey | Pompe disease

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy.
Infantile Pompe disease is the result of complete or near complete deficiency of GAA. Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. Many infants with Pompe disease also have enlarged tongues.
Without enzyme replacement therapy, the hearts of babies with infantile onset Pompe disease progressively thicken and enlarge.
Most babies die from cardiac or respiratory complications before their first birthday.

Juvenile/Adult Pompe disease is the result of a partial deficiency of GAA. The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood. The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years. The heart is usually not involved.
In general, the later the age of onset, the slower the progression of the disease. Ultimately, the prognosis is dependent upon the extent of respiratory muscle involvement.
A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample.
Once Pompe disease is diagnosed, testing of all family members and a consultation with a professional geneticist are recommended. Carriers are most reliably identified via genetic mutation analysis.