Learning Self-advocacy With Rare Disease

I was diagnosed with my first rare disease, familial adenomatous polyposis (FAP), around the age of 8. FAP is a rare genetic disease I inherited from my mother, who inherited it from her father. I required my first surgery for FAP at age 9.

Not only did my physical health change, but so did my mental health in ways I never expected. I began experiencing medical trauma before my first surgery, which continued well past that surgery. I had complications from my first surgery that caused my second rare disease, short bowel syndrome.

Not much was known about my rare disease

This was back in the 1990s. There wasn't nearly the amount known about FAP as there is now, and it was new territory for my parents.

My parents based their understanding and expectations about FAP on my grandfather's and my mother's experiences with FAP. However, my experience would prove to be completely different – starting before I was even 10, whereas theirs started in their 30s. My parents didn't need to learn or even use medical advocacy skills before me. This would quickly change, though.

Working around an insurance barrier

What led to my FAP diagnosis was when I started having chronic abdominal pain that was dismissed by my primary care physician (PCP). At the time, our insurance plan required a referral from a PCP to be evaluated by any specialist. When my PCP refused my parents' request for a referral to a gastroenterologist, my parents didn't push back for the referral.

Instead, they changed to an insurance plan that didn't require referrals to be seen by specialists. They weren't going to let my chronic abdominal pain be untreated, and we were fortunate we had the option to change insurance plans.

What does self-advocacy require?

After my first surgery, I experienced complications on 2 different occasions that would lead to 4 additional surgeries over the span of a year. My parents still trusted the doctors evaluating and treating me. However, by the end of this year, they were forced to learn advocacy skills. And with this new learning, they would instill within me self-advocacy skills as well.

However, learning how to self-advocate isn't an easy skill to learn. It requires self-confidence and determination, at times to the extreme level. It requires the confidence to learn about one's own health and then voice information, questions, and concerns to any provider, even when questioning may not be well received.

Growing my knowledge about my rare disease

This was difficult for me as I was an extremely shy child with poor self-esteem. I didn't begin to learn how to voice questions or concerns until I was in my mid-teens and even then, my questioning was sourced from pure anger stemming from my medical trauma. This wasn't exactly the most conducive manner to achieve my desired outcomes from self-advocacy.

I didn't begin to learn about my FAP until I was in college so even when I started to question my healthcare, I wasn't armed with any understanding about my health which would be able to carry my questioning further. I also hadn't built my level of determination up yet to the level that is often required for obtaining the additional care rare disease demands.

Building my advocacy skills

I began to hone my advocacy skills over the years – arming myself with as much information as I could gather about my health conditions and a relentless determination. The power of self-advocacy has repeatedly proven invaluable for me, allowing me to receive the continued testing needed when new symptoms arise and identify new underlying issues.

However, this didn't all occur on my own. The support and shared experiences of others in the rare disease community have been essential in helping me along the way, continuing to do so to this day.

How to develop your self-advocacy skills

Ask questions

Asking questions is the first step to learning self-advocacy. Questioning may be directed toward a better understanding of one's health condition and treatments offered. It can also include asking for medical tests or other treatments to be provided. There are many times when I ask my doctors for certain medical tests or medications to be tried and most of the time, they will order what I've requested.

Learn about your rare disease

Arming ourselves with as much knowledge about our rare disease as possible can be critical. Oftentimes, our doctors have limited knowledge about rare diseases. I regularly review medical journals online for the latest information on my conditions and any new symptoms. Crowdsourcing information from online communities with the same rare disease can also be helpful in gathering information and ideas for treatment. I bring this information to my doctors when asking for certain medical tests or treatments to be provided.

Review your medical records

I also request a copy of all my medical records so that I can review them myself and provide copies as needed to other providers. This helps me to better understand my health conditions and seek clarity if something doesn't make sense. I've learned that oftentimes, doctors will only review medical test findings that are relevant to their area of expertise and fail to discuss other potential issues revealed in the tests. By reviewing my own records, I can seek monitoring and management of other discovered potential issues that weren't being addressed previously.

Communicate with your doctors

I've found maintaining regular communication with my doctors to be critical for receiving timely and adequate care as well. Rather than waiting until my next appointment to discuss concerns about new symptoms or symptoms not improving even with treatment, I provide regular updates to my doctors to reduce delays in symptom management.

Get a second opinion

If I'm not comfortable with the direction of my care or answers provided by a doctor, I will seek a second opinion. This can be difficult at times, depending on one's insurance or service area. For example, a managed care insurance plan requires a PCP to refer to see a specialist and some areas in the country have very limited access to medical providers.

These are some of my default advocacy skills. What are some you have found helpful? Let us know in the comments below!