Our Fabry Family Tree Series II

Ester’s brother Juan Ramón had been in severe pain for most of his life but the cause was a mystery. When a nurse finally spotted the signs that led to a diagnosis of a rare hereditary condition called Fabry disease, it was the start of a new journey for his entire family.

Fabry Family Tree Image
Fabry Disease Short Film Series

Following on from last year’s short film series about a family in the UK living with Fabry disease, Shire is pleased to introduce Our Fabry Family Tree Series II. In this new series we meet a family from Argentina and hear about their search for a diagnosis, their journey to track down other relatives who may be affected by the disease, and the impact that Fabry has had on their lives.

In Episode 1, we hear from Ester how her brother, Juan Ramón, experienced pain from early childhood which healthcare professionals struggled to explain. Eventually a nurse recognised his symptoms leading to his diagnosis. Episode 2 explores Ester’s journey across Argentina to discuss the disease with the rest of the family and build the family tree, and we see how Juan Ramón’s diagnosis with Fabry disease contributed to earlier diagnosis in the younger generation. Episode 3 takes a look into their hopes for the future. We also meet the healthcare professionals who have supported them along the way.

Watch the trailer, launched for Fabry Awareness Month in April 2017

Episode 1: Finding Fabry

In webisode 1, we meet Ester who tells us how a long-awaited diagnosis of Fabry diease in her brother, Juan Ramón, led to the identification of the mysterious illness that had been affecting the family for generations. We hear how Ester’s determination to encourage the wider family to get tested for the disease takes her on a journey across Argentina.

Episode 2: The Fabry Effect — The Impact of Fabry on our Family

As members of the wider family are diagnosed with Fabry disease following pedigree analysis, in webisode 2, we hear the relief they felt post-diagnosis and how they were supported by their family and a range of healthcare professionals to ensure they received the care they needed.

Episode 3: Our Family’s Future with Fabry

A diagnosis of Fabry disease can impact many aspects of your life including decisions about starting a family and your ability to look after your children. In this episode, Yanet discusses her decision to start a family and how Fernando’s diagnosis had a positive impact on his family’s life.

Join the conversation and follow this family’s story as it unfolds on Twitter and Facebook using the hashtag #FabryFamilyTree.

More Family Stories:
Watch Nicola’s Family Story (Series I)


Play Video
Watch a brief video about Fabry disease.
Fabry disease diagnosis is often delayed due to the lack of specificity in symptoms. Average onset of diagnosis is 13.7 years in men and 16.3 years in women
Fabry disease hereditary and inheritance infographic. Learn about the genetic factors.
View the signs and symptoms of Fabry disease and their multi-systemic effects
If you suspect you have Fabry Disease print this out to discuss with your doctor.
Fabry disease hereditary and inheritance infographic. Learn about the genetic factors.
Fabry disease is managed through symptom control and effective therapies
This leaflet aims to answer some of the questions you may have about the causes, inheritance and treatment of Fabry disease.