Von Hippel-Lindau syndrome (VHL), is an inherited condition that brings about tumors in various organs, particularly hemangioblastomas, which are blood vessel tumors found in the brain, spinal cord, and retina. Listen to FIECON's latest 'Patient Perspectives' podcast with Lauren Weinberg, Senior Associate at FIECON, talking to Frankie Bryant about her journey living with VHL and the impact it has had.

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,...

In this podcast, David Robins talks to Lauren Weinberg, Senior Associate at FIECON, about the patient journey, his experience as the father of Lexi who lives with Fibrodysplasia Ossificans Progressiva (FOP), and as a family after the FOP diagnosis. FOP is an ultra-rare genetic condition and is one of the most debilitating 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...

Erika Stariha is the mother of the first child in Slovenia diagnosed with SATB2-associated syndrome (SAS), as well as the founder and president of SATB2-Europe.  SATB2 Europe's aim is: “To improve quality of life for individuals with SATB2 syndrome through discovery and development of targeted treatments and enhanced availability of appropriate care”. SATB-2 associated (also known as chromosome 2q32-q33 deletion syndrome or Glass syndrome) is a rare genetic syndrome caused by mutations...

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...

José Ángel Aibar became involved in the activities of the Dravet Syndrome Foundation, shortly after one of his sons was diagnosed with Dravet syndrome. He has served as President and CEO since June 2018.  José is also a member of several rare disease and epilepsy working groups, such as Epag EpiCARE and the Eurordis Digital and Data Advisory Group, as well as a member of the advisory committee of several international projects. and from the industry. The Dravet Foundation was started  with...

World Orphan Drug Congress panel discussion November 2021  "Access for rare diseases - how to navigate conflict, compromise and collaboration" with panellists -  Karl Freemyer, Head of Business Development - FIECON (host)Martin Schuchardt, Director of Pricing and Market Access - FIECONSimon Eade, Vice president of Worldwide global strategy  - Janssen Oriol Sola-Morales, CEO of Health Innovation Technology Transfer Eric Low, CEO - Eric Low Consulting

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...

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...

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...

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...