Rare Disease and Survivor Guilt

During our last visit at the National Institutes of Health (NIH) for Katherine’s EPI 743 clinical trial, we participated in rounds. Rounds usually consist of a large group of physicians and students for the purpose of teaching and learning, and something we’ve become quite familiar with over the past three years.

This particular one was by far the largest to date. So big, in fact, we had to be moved to a special conference room to accommodate the number of people in attendance. Sitting up front with Katherine in my arms, we shared our journey with 40 doctors, geneticists, and nurses. Dave focuses on the medical/insurance side of the journey, whereas I always emphasize the emotional side. I feel it’s important they fully understand all the aspects rare disease families face.

An important part of our story is the year and a half clinical misdiagnosis for Infantile Neuroaxonal Dystrophy (INAD). During that time I located as many families and researchers as possible. They were our community and we wanted to know their children. Often I met mothers of undiagnosed children and we would compare notes and give updates. Our article in The New York Times really reached a broader audience, and I was receiving email messages from parents across the globe.

In the absence of a genetic test confirming Katherine’s clinical diagnosis of INAD (Katherine’s was negative, but that did not rule it out), which all of these families had, their children became an integral part of our research and understanding of the disease. INAD is a really, really, really horrible disease. To learn about its existence is bad enough; to hear that your own child has it is beyond cruel. In truth, all of these rare diseases are bad, but if you had to pick the lesser of the evils, I would pick the one Katherine has, not INAD.

There are a few other atrocious ones we’ve learned about just by meeting other moms via social media. Dave and I constantly follow their stories and discuss their ups and downs. In many ways, it feels like we are watching what would’ve been our current reality had the INAD diagnosis been correct.

They are celebrating what is likely to be their last birthdays; attending their proms; and the families cannot help but let their minds drift to that unimaginably dark place no parent wants to go: What will their child wear when they bury them?

If Katherine had INAD, we would be living a parallel reality. That’s not to diminish the disease our child has, or the obstacles she faces, or even the possibility it will prematurely kill her. No, we are not free from worry, but we are not there. Yet in many ways, we are there.

I talked about this during the rounds at the NIH, highlighting the importance of community in the rare disease world. When you are undiagnosed, you are a medical refugee. We all want a home, even if that home is the worst one imaginable. Any home is better than nothing.

Imagine finally finding a home and struggling together with the people in that house, and one day somebody knocks on the door and tells you your family gets to move to a better house with more opportunity. That’s not an easy move, though you are grateful for a better situation.

Survivor guilt is (or survivor’s guilt; also called survivor syndrome or survivor’s syndrome) is a mental condition that occurs when a person perceives themselves to have done wrong by surviving a traumatic event when others did not. You hear about it all the time when one sibling dies and the living sibling feels it should’ve been them or when a friend dies in car accident but you survive. Survivor guilt comes in many shapes and forms. It hurts. It doesn’t feel fair. It is a helpless feeling.

We’ve said it before, we will always have two communities – INAD and NUBPL. Perhaps there’s a connection and research will benefit both.


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