I’ve Been Diagnosed with FAP. Now What?

I’ve Been Diagnosed with FAP. Now What?
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You have learned that you have familial amyloid polyneuropathy (FAP), a rare, inherited, progressive disorder caused by abnormal deposits of proteins around peripheral nerves and other tissues. Such news can be difficult to comprehend, but here are some suggestions for you to think about following a new diagnosis.

Exhale

Because FAP shares symptoms with other neuropathic disorders — most of which are more common than FAP — it can be a challenge to get an accurate diagnosis. Depending on your family’s medical history, it may have taken you as long as five years to finally receive a diagnosis. Now that you know, and have some time to adjust to the news, you can start to plan.

FAP inheritance

FAP develops as a result of mutations in the TTR gene. Equally common in men and women, the disease is inherited in an autosomal dominant manner, meaning that only one copy of the mutated TTR gene is sufficient to cause the disease. Because the age at which symptoms emerge is usually after 30 and can be as late as 80, some members of your family may unknowingly carry the mutation and should consider undergoing genetic testing.

Genetic testing and counseling

Because risk assessment can be complex, your family should consult a physician with FAP expertise. To provide personalized genetic counseling about the likelihood that someone with a TTR mutation will eventually develop FAP, the physician will need a family health history in addition to a positive genetic test result for TTR mutations. While such testing of healthy individuals can identify mutations, it cannot predict whether they will develop FAP or when.

Early diagnosis by genetic testing can improve life expectancy through early treatment. Patients also may be recommended for clinical trials.

FAP centers in the U.S.

You may considering contacting these sites about genetic testing and counseling:

FAP support and advocacy groups

These organizations can provide community support and information following your diagnosis:

 

Last updated: May 7, 2020

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FAP News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. 

Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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