FIECON Patient Perspectives FIECON

In this episode Karl Freemyer, BD director at FIECON, is having a conversation with Emma Chaffin about her experience living with the metastatic breast cancer as a biopharmaceutical executive.

Emma is a resilient breast cancer survivor who was diagnosed with stage 4 breast cancer five years ago at the age of 41. Facing a daunting prognosis and a treatment plan focused on palliative care, she defied the odds, with only a 22% chance of surviving five years.

Richard E. Poulin II is an American currently working as Head of Middle School for an international school in Bangkok, Thailand. He is also the president of the nonprofit organization Teach RARE. In 2018 his newborn daughter, Rylae-Ann, was diagnosed with the ultra-rare disease, aromatic l-amino acid decarboxylase deficiency. Richard shares her journey.

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, 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.

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 restricts the person’s movements.  This new bone, or ossification, can mean that the sufferer is eventually 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.

There is currently no treatment for FOP so investigating all avenues of research and finding more FOP doctors, who are willing to be educated about FOP, is essential.

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 in the SATB-2 gene leading to developmental delays, intellectual disability, and speech and language difficulties.

 The main symptoms can be remembered using the acronym S.A.T.B.2 :


S = Severe speech anomaliesA = Abnormalities of the palateT = Teeth anomaliesB = Behavioral issues with or without Bone or Brain anomaliesIn this podcast, Amanda Hansson Hedblom, Senior Associate at FIECON,  talks to Erika Stariha about the patient journey and her experiences as both a parent of a child with SAS and as a patient advocacy leader.