We learn a lot from our family trees. Some good things and some challenging things. The gene responsible for Fabry disease can safely be categorised as a challenge, as it passes on for several generations and potentially affects many close and distant relatives.
Made with family members, the MPS Society, healthcare professionals at The Royal Free Hospital in London and the genealogist Dr. Nick Barratt, best known for his work on television’s ‘Who Do You Think You Are’, Our Fabry Family Tree traces a family’s story of Fabry disease using a combination of pedigree analysis and traditional ancestral research.
Pedigree analysis looks at a Fabry patient’s family tree to analyse who has inherited the disease and is showing symptoms, and who has the disease but doesn’t show any symptoms.
Physicians do this to work out the probability of a patient passing Fabry on to somebody else in the family and to diagnose any family members who may not realise they are living with the disease. Another word for this technique is family mapping.
It’s extremely important that pedigree analysis is part of diagnosis as it can really help to identify Fabry patients early on. Here’s an example of what pedigree analysis can tell us:
The webisodes offer a new perspective; one that we hope will help other families just beginning their journeys on a rare disease diagnosis:
Our Fabry Family Tree, in support of International Fabry Awareness Month
Our Fabry Family Tree Webisode 1: Finding Fabry
Our Fabry Family Tree Webisode 2: The Fabry Effect: The Impact on Our Family
Our Fabry Family Tree Webisode 3: Our Family’s Future with Fabry
We have good news, the Fabry Family Tree series is back for Fabry Awareness Month 2017! This time we are following an Argentinian family on their journey to diagnosis.
Everyone living with a rare disease has a story to tell. Whether it affects you directly or you’re a friend, colleague, family member or healthcare professional, we all have our own challenges and ways with dealing with them.