FIECON Patient Perspectives

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.

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.

• S = Severe speech anomalies
• A = Abnormalities of the palate
• T = Teeth anomalies
• B = Behavioral issues with or without Bone or Brain anomalies

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.

Juliette Vila Sinclair-Spence is a passionate Acanthamoeba keratitis (AK) Warrior and Rare Disease Patient Advocate as well as the Founder and Chairwoman of Acanthamoeba keratitis (AK) Eye Foundation. With her patient voice, she brings personal and first-hand experience of what it means to be affected by Acanthamoeba keratitis as well as its aftermath.

Her goal is to raise awareness about the rare disease Acanthamoeba keratitis by educating contact lens users (Contact lens and water don’t mix!), eye professionals to stop misdiagnosing Acanthamoeba keratitis, understand the impact the disease has, providing the right medical treatment (refer to an expert), support like pain management (excruciating pain) as well as mental support (depression) and encourage all contact lens manufacturers that a “No water" label on all packaging would help the goal.
In this podcast, Guy Lacey, Manager at FIECON, talks to Juliette about her patient journey since she contracted Acanthamoeba keratitis in 2016 and shares the details of her long and arduous journey to diagnosis and finally treatment. She has devoted much of her time to help others learn more about this disease and has became an advocate for patients, families and providers by creating the Acanthamoeba Keratitis (AK) Eye Foundation.

Acanthamoeba keratitis is a rare but often devastating ocular condition that can lead to severe vision impairment, corneal transplantation, and even enucleation. It is caused by a free living amoeba that is typically found in soil and water, including tap water.

The main risk factor for AK is contact lens wear. AK presents initially with a high degree of pain, often out of proportion to the clinical signs observed. Many times, this condition is misdiagnosed as herpes simplex keratitis.
Our innate immune response can fight the infection, but once the amoebas have breached the corneal epithelium, it is difficult for the immune system to fight these parasites due to the fact the cornea is an immune-privileged tissue. Cysts can remain in a dormant state on corneal tissue for close to 3 years making recurrent infection possible.