a man curled up in pain, surrounded by question marks

Fighting Misconceptions Can Save Lives: Rare Disease Surveillance

Misconceptions abound amidst many health conditions – particularly rare diseases – and even among the medical treatments available to prevent or manage health conditions. This occurs not just outside the health condition community itself but even within the communities. Sometimes, this can even be emboldened by medical professionals with limited familiarity or understanding.

Health misconceptions can be detrimental to the physical and mental well-being of patients. This is often how stigma is created, furthering the harm done to patients.

A misconception about my rare disease

A common misconception about familial adenomatous polyposis (FAP) is that it's a death sentence. It can understandably be terrifying to learn one has a rare, hereditary colon cancer syndrome that may require colon removal at some point to prevent colon cancer. And it is true that FAP has an increased risk for several other cancers within and outside the gastrointestinal tract.1

But this misconception only heightens the fear

But this misconception can heighten fear for the newly diagnosed and their loved ones who are still trying to learn about FAP and the best ways to manage it physically and emotionally. This is why I scream from the rooftops about FAP surveillance and treatments.

Knowledge is power: disease surveillance

While not every case and every individual are the same, the fact remains that with proper monitoring and treatment, a person with FAP can have a normal life expectancy.2

And that can even mean into one's 90s, as in the case of my friend's father – Carleton Myers – who lived to be an incredible 96 with FAP and an ileostomy. In my opinion, it is best to start FAP surveillance upon diagnosis and as early as upon birth if one is suspected of having inherited FAP.

 with proper monitoring and treatment, a person with FAP can have a normal life expectancy

The National Comprehensive Cancer Network (NCCN) maintains updated guidelines for all cancers, including hereditary cancer syndromes such as FAP. These guidelines are available to anyone who creates a free account. This is a great resource as the surveillance timeline and tests are clearly identified and can be used for individual education and advocacy purposes.3

Using rare disease education to improve our own medical care

Unfortunately, like many rare diseases, there are more doctors unfamiliar with FAP than those familiar with it. All the more reason why self-advocacy and education are critical. Access to such resources and information as the NCCN guidelines provides patients with an additional tool to ensure they receive the proper medical care.

self advocacy and education are critical

My grandfather and FAP

My grandfather is a great example of this. He had FAP that caused him to develop colon cancer in his 30s and rectal cancer at age 75. He didn't continue to receive the proper surveillance for FAP, though, resulting in him developing esophageal and stomach cancer around age 80, causing his death at age 81. He was healthy and fully independent – high functioning until he began developing esophageal and stomach cancer symptoms. I often think about how long he may have lived if he had been receiving the proper medical surveillance he needed – if he had known to advocate for himself, if we had known what we know now to have helped him.

My mother and FAP

My mother and I have learned a lot through my experiences with FAP since my diagnosis in 1994, which has also helped her receive and advocate for the proper FAP surveillance she requires. I'm grateful every day for this as we celebrated my mother's 72nd birthday this year, and I look forward to many more years with her.

New and promising developments in medical research

Fortunately, with continued medical research, there are medications available showing success in reducing the growth and size of polyps, helping to delay the need for colon removal. There are ongoing clinical trials available to FAP patients as well. And as research continues, perhaps one day, a vaccine or medication will be available to prevent colon removal altogether.1,4

 as research continues, perhaps one day, there will be a vaccine or medication available to prevent colon removal altogether

What common misconceptions do you fight with your rare disease? Tell us in the comments below!

By providing your email address, you are agreeing to our privacy policy.

This article represents the opinions, thoughts, and experiences of the author; none of this content has been paid for by any advertiser. The RareDisease.net team does not recommend or endorse any products or treatments discussed herein. Learn more about how we maintain editorial integrity here.

Join the conversation

Please read our rules before commenting.