FIECON Patient Perspectives

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.

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.

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.

In this podcast, Patient X talks to us about her patient journey and her experiences, as both a patient and patient advocacy leader.

Five years ago, a high impact event led to Patient X being diagnosed with chronic migraines. Patient X is a volunteer with several migraine and headache non-profit organisations, she has a Master of Public Health and Epidemiology and works as a health economics and outcomes research worker.
Migraines have many manifestations and according to the International classification of headache disorders, more than 50 types, these include migraine pain with and without aura, chronic migraine, menstrual migraine, hemiplegic migraine - a rare type involving temporary weakness on one side of the body, migraine with brain stem aura, vestibular migraine, predominant vertigo, abdominal migraine, cluster headaches, and many more.
There is much more than just head pain in a migraine or headache, the heterogeneity of diseases and social determinants of health for example, race, urbanicity, and access to health care providers makes it hard to consistently identify migraine patients.
Advocacy is key to combating the burden of migraines. There is stigma attached to migraine disease related to the historical view that it was a 'hysterical woman's problem' which was not serious and could be cured by simply 'popping a pill’.
Educating the wider population about the wide variety of symptoms of migraine and removing that stigma is essential in reducing both the clinical and economic burden of the disease.

In this podcast, Lily Mumford talks to Lauren Weinberg, Senior Associate at FIECON, about her patient journey, experience living with LHON, and how losing her vision has impacted her life.

Leber hereditary optic neuropathy (LHON) is a rare condition that primarily affects young adults. It causes painless vision loss, typically starting in one eye and later affecting the other eye within a few weeks. Some individuals with LHON may also experience rare neurological problems like nerve issues, tremors, muscle weakness, and movement disorders.

LHON is caused by changes in mitochondrial DNA and is inherited through the maternal line. It is a rare disease affecting about 1 in 50,000 people. Many carriers of LHON do not experience significant vision loss.

However, males are four to five times more likely to lose vision than females. The annual incidence of vision loss in LHON is extremely low, around 1 in 10 million.