We have created some documents to support you and your family with these conversations, particularly if you and your family are not in close contact. But you may also find the templates and information useful when thinking about how you communicate with close relatives. Of course, these are just ideas that you may want to adapt to suit your personal circumstances.
Please find below some suggested wording for a second letter/email or talking points, which you may find helpful after a family member has replied to your introductory letter/email or text message and expressed an interest in knowing more about this hereditary condition and the next steps.
This correspondence aims to:
Dear [insert family member name],
I’m glad that you have decided to get in touch. I know that it can be worrying to learn about this hereditary condition in our family, and I expect that you have some questions. I wanted to help ensure that you have access to the relevant information, so that you can decide whether to discuss this with your doctor and your family.
The name of the condition I have is hereditary transthyretin amyloidosis (also known as hATTR amyloidosis, including familial amyloid polyneuropathy [FAP] and familial amyloid cardiomyopathy [FAC]). This is a rare disease caused by a change (mutation) in part of the DNA (gene) that can be inherited by relatives (only those related by blood).
hATTR amyloidosis mainly affects the nerves and the heart but can also affect other organs such as the gut. Symptoms may appear in adulthood (never in children) and tend to vary from person to person.
As we are blood relatives, there is a possibility that you may have inherited the same transthyretin (TTR) gene mutation. You could benefit from talking to your family doctor and requesting genetic counselling, and possibly genetic testing, if you wish.
Genetic testing is the most common way to identify whether the gene runs in the family. If you have the gene mutation confirmed, you will be provided with guidance and support from your doctors on what to do next, including information on treatments, if and when it is appropriate.
Because this is a rare disease, it is likely that your doctor may not be familiar with this condition. However, there is lots of information available for affected families, and your family doctor might find them useful too. The Amyloidosis Alliance has an informative website (https://www.amyloidosisalliance.org/hereditary-transthyretin-amyloidosis), which provides links to local support groups across the world.
Thank you again for responding to my letter. Please let me know if you have any questions or would like more information. My phone number is [add a phone number].
I look forward to hearing from you.
Kind regards,
[Insert name/signature]
NP-CEMEA-00109 August 2021