Once my brother understood that Fabry could be passed down in families, he made sure everyone was aware and got tested. He was strong for us, and those of us that have Fabry don’t have to have such a difficult time trying to get a diagnosis like he did.

Explore this website to find out how you could help your family.

Once my dad understood that Fabry could be passed down in families, he made sure everyone was aware and got tested. He was brave for us when we needed him. My cousins and I can now get the help we need, the moment we need it.

Explore this website to find out how you could help your family.

My mum is amazing. When she found out that the rest of us could have Fabry like her, she spoke to all of us about it, even distant cousins. Now we’re all getting tested. It’s brought us all closer together and we feel prepared for the future.

Explore this website to find out how you could help your family.

My aunt is fantastic. When she discovered that the rest of the family were at risk of Fabry, she made sure we all knew and insisted on getting everyone tested. Now we finally know what’s causing my brother’s pain.

Explore this website to find out how you could help your family.

Photographs are for illustrative purposes only; the individuals depicted are not family members of someone with Fabry.

Welcome.

This website is to help individuals with a Fabry disease diagnosis reach out to their relatives who may have a Fabry mutation.


Why is it important to talk to your family about Fabry?

On average, for every person with Fabry, up to 5 members of their Family can also be diagnosed with the condition based on an analysis of their family tree.1

You could help them.

By telling them they may have a Fabry mutation, you could potentially help them avoid a long and difficult journey to diagnosis.1-3 Also, early diagnosis and treatment could potentially lead to a healthier future.4-6

So, what should you do if you want to help?

Step 1:
Work out who may have a Fabry mutation

On this website, you will find ‘The Fabry family tree builder’ online tool, by asking you a simple series of questions it can help you create your family tree, and automatically highlight members with a Fabry mutation. Your doctor can help you complete this or if you prefer, you can complete it alone.


To find out more about the tool click here


To read the instructions for the tool click here


To start using the tool click here


Step 2:
Talk to your family members about Fabry

There is no such thing as an average family and talking about Fabry is no different. There is no correct way to go about it – use a method of communicating that you are comfortable with.

In the resource section, you will find a leaflet you can send to your family members (‘Our family and Fabry’). There is also an example letter, if you want to write to them but can’t find the right words – you can send it as it is or use it to help you write your own.


Click here for more information on what to tell your relatives



  1. Laney DA & Fernhoff PM. J Genet Counsel. 2008:17:79-83
  2. Germain D. Orphanet. J Rare Dis. 2010;5:30
  3. Hilz MJ et al. Dig Liver Dis. 2018:50(5):429-437
  4. Germain DP et al. Clin Genet. 2019;96(2):107-117
  5. Mehta A & Hughes DA. Fabry disease. GeneReviews®. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1292/ [Last accessed August 2019]
  6. Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427