Our Fabry Family Tree Series I

Meet Nicola, a mother of two, who lives in a coastal town in England with her family. Nicola and her son Michael live with Fabry disease.

Do many members of your family have Fabry disease?
“That I know of, my father had it, so my three sisters and I all have it. My uncle – dad’s brother – had it, so all of his daughters, my cousins, have it. Shortly after my diagnosis, my son was also diagnosed.”

Fabry Family Tree Image
What does having Fabry disease mean for you?
I feel that having Fabry disease does not stop me from living my life. However, for me a really important step is understanding my family history and the impact of the disease on all of us.

How important is evaluating family history for people newly diagnosed with Fabry disease?
Family history and pedigree analysis is important because your physician can find out if there are other members of your family that have Fabry disease and help them, even if they don’t know they need help. A father with the disease will pass it on to any daughters he has, whereas a mother has a 50% chance of passing it on to her children – whether it’s a boy or a girl. “It would have been helpful to have had the pedigree analysis take place earlier, because it would have helped me to understand more how it impacted my family.”

Fabry Disease Short Film Series

In Episode 1, we trace Nicola’s family history with Fabry, using traditional ancestral research and pedigree analysis. Episode 2 explores the psychological impact of Fabry on the family, and Episode 3 takes a look into the family’s plans for the future living with the disease.

Watch the Trailer

Watch the trailer which was launched for Fabry Awareness Month in April, 2016.

Episode 1: Finding Fabry

Genealogist Nick Barratt gets to know Nicola, a woman living with the genetic condition Fabry disease, speaking with her about diagnosing her ‘family illness’. Together, they unveil where the condition rooted, learning more from her family, physician and other experts at the Royal Free London.

Episode 2: The Fabry Effect: The Impact on Our Family

Diagnosis with a genetic disease can create a range of challenging issues and Nicola’s family was no different. In this segment, they explore their initial reactions, some surprising even to them, and how their views of Fabry disease have changed over time.

Episode 3: Our Family’s Future with Fabry

The journey to diagnosis can be long and painful but pedigree testing can help. Learn more about how the importance of pedigree analysis can impact the future of the disease and how Nicola and her family continue to move forward with the condition.

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

What is pedigree analysis?

Once a person is diagnosed with Fabry disease, it is common to work out the risk of inheriting Fabry disease in the family. A doctor will ask for your family’s medical history, and map out a family tree using symbols to represent genetic relationships; this is called a pedigree analysis.

Where can I learn more about Fabry disease?

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.