Rare Disease, Death, and No Clear-cut Answers

I have been fortunate to have my mother and grandfather to share my rare disease journey with me, as one of our shared rare diseases, familial adenomatous polyposis (FAP), is genetic. My mother and I shared another rare disease, too, short bowel syndrome.

Having someone close to me has helped me understand and process living with a rare disease; at least I was not completely alone in my experiences. Having close family members understand what I was experiencing led to immeasurable bonds between grandfather-granddaughter and mother-daughter. But these bonds can also cause the loss of a person to cut even deeper.

In addition to being a rare disease patient, I also became a caregiver to my mother in the last year. Unfortunately, that role ended with the unexpected timing of my mother's death.

Rare disease tunnel vision

As a rare disease advocate, I combed through my mother's history, particularly since taking on the role of caregiver, desperately looking for what was missed. But we didn't miss anything, at least no glaringly obvious sign that something else was going on that required attention.

That's when I remembered how easily rare diseases can create tunnel vision. I see this often in the FAP community with members asking if all kinds of random things are caused by FAP. It can be easy to blame a rare disease for every issue one may encounter, and it can be just as easy to overlook an issue because all of the focus is on the rare disease. Then, there are times, such as with my mother, when everything she was experiencing could have been attributed to each of the multiple conditions she was battling.

There is no one to blame

Realizing there wasn't a single, clear sign that running a different test or taking a different route should have been done has been healing for me. I can't place blame on a single person, including myself. I can be angry at the situation, but at least I'm not angry with a person.

And as someone who did place blame, rightfully so even, and live with intense anger towards individuals regarding how my FAP was mistreated, it is refreshing and liberating not to be able to place blame or anger towards a person in this unfortunate situation.

Ultimately, even if the underlying issues that caused her death had been discovered earlier, I don't know that it would have changed anything. She was in an unwinnable situation that no one knew was even occurring until it was too late.

Life with a rare disease is complicated

It's common to look back and think, "This should have been done instead," or "This should have been different," particularly when everyone involved is honed in on specific issues as the causes. But it bears reminding that life with even 1 rare disease is not typically straightforward.

We tend to be complex patients, and even if everyone is doing everything right and trying to keep from approaching health issues with tunnel vision, not everything can be accounted for, even by the best-trained and most well-intentioned people.

Doing our best is good enough

To explain past decisions about my health, my parents have always said, "We did the best we could with the information we had at the time."

And I think that's truly the key to life – doing the best we can at that moment with the information available at that time. That's all we can do, no matter how much it hurts to not be able to do more.