In the previous post I described how my mother came to be diagnosed with a rare hereditary disease called fibrinogen amyloidosis approximately four years after the initial symptoms were detected. I saw no reason for anyone else to go through a similar experience and spend years trying to get a correct diagnosis simply due to lack of awareness. This post describes how I communicated with other family members.First, I notified my mother’s first-degree relatives (siblings and other offspring). I viewed that initial notification as a conversation starter so I only provided some basic information. However, before notifying my mother’s more distant relatives I realized I needed to write a letter for a different audience because neither my mother nor I were in close contact with most of those family members. I also knew this letter might be my only chance to communicate to them, so I divided the letter into six sections, with each section answering one or more questions I would have if I were told someone in my family had been diagnosed with a hereditary disease. The remainder of this post will be divided into those same sections, with my recommendations on what to communicate if you find yourself in a similar situation.
Who was diagnosed and with what disease?
Depending on your audience, you may need to introduce yourself and the person diagnosed (if it is not you), and explain where you fit in the family tree. Give the name of the hereditary disease and some basic facts about it. With the permission of the person who was diagnosed, describe how the disease is currently affecting that person.
What is this disease?
Provide some more details about the disease, keeping the medical terminology to a minimum. What are the symptoms? Age of onset? Organ involvement? What is the typical progression of the disease if left untreated?
What is the treatment for this disease?
If you are familiar with the treatments, describe them in general terms, such as chemotherapy, surgery, medication, organ transplant, etc. If there is no known treatment, or only experimental treatments exist, it is best to be honest about that.
How is it inherited?
What are the chances I inherited it? This section can be rather simple or a bit more complex, depending on the inheritance mode. If you use a term like autosomal dominant, be sure to define it. Try to answer these questions: Is it inherited from one or both parents? Can it skip a generation? Are males or females more likely to inherit the disease? Can someone be a carrier and unknowingly pass it on to their children?
What do I need to do about it?
This section may be the most important since the goal is to raise awareness so other family members can get an earlier diagnosis and treatment. At a minimum, potentially affected family members need to inform their doctors on their next visit that a hereditary disease has been diagnosed in a family member. For very rare diseases they may need to tell their doctors what symptoms and biomarkers to monitor because doctors simply cannot be familiar with all rare diseases. Rather than presenting the pros and cons of genetic testing, recommend having a discussion about genetic testing with a doctor or a genetic counselor. To clarify some of the common misconceptions about genetic testing in the US, refer people to the GINA website.
Where can I get more information?
If there are any websites with reliable information about the disease, list those. If you are comfortable with people contacting you for more information, mention that and provide your contact information.
A note about medical privacy: When deciding what to communicate to others, always be respectful of the privacy of others regarding medical information. Fortunately, my mother and I were in agreement about being open about her diagnosis and informing other family members. But not everyone will be as willing to share such medical information, and that should be taken into account when deciding what to communicate to whom.
It is normal to be shocked when a hereditary disease is first diagnosed in a family. That news can be devastating, depending on the disease. But it is even more tragic if other family members are not informed of the possibility of having the same disease, and as a result, experience unnecessary delays in getting diagnosed or treated.