How My Daughter's Rare Disease Opened My Eyes

When my daughter was first (mis)diagnosed with a rare disease in 2013, not only was I utterly devastated by the news that she had a progressive disease, but I was also shocked beyond reason by the realization that such a disease even existed in the first place.

That moment was reality-altering.

In fact, I remember very little from that day, except asking my husband over and over to repeat the name of the disease the doctor suspected. He would say it and I would forget it a second later. How did a disease so horrible exist in this world that nobody ever talked about? Why was the name so foreign that I couldn’t even remember it for more than a second? Shouldn’t everybody be alerted about this vicious disease? Why? How? Is this really happening?

Of course, I was in shock, and would later become very much acquainted with the disease threatening to kill my daughter. And a few years later, after whole exome sequencing, I would become familiar with another rare disease, a newly discovered one, so new in fact that it is simply referred to by its gene name.

The first time, though, in the most startling way, I awoke in a different world – a world where I began to question what else I didn’t know or may have overlooked in my 36 years of life. Outside I heard the familiar sounds of cars and birds, but for me, in the early morning light, I found myself living in a world much altered and unfamiliar. Even the colors I’d viewed my entire life were muted and different to my eye.

I’m fairly certain that a part of me is now gone with the news and shock of my child’s rare disease diagnosis; however, something else happened in that moment: An advocate was born.

Professionally, as a political appointee, I met many advocates and even organized advocacy training sessions. Selected advocates shared stories of best practices to replicate. The stories were inspiring and aspirational, and in many ways, there are teachable aspects of advocacy work. Regardless of the story or cause, one defining characteristic was common throughout: They never gave up.

Each year I would see the same faces in the halls of our state Capitol building – glimpses of weary faces at the end of a long legislative session. You could see the defeat in their eyes and the figurative scars of battle – hanging heads, slower steps, sometimes tears. But the next year, they would come back for another round, always hopeful this would be the year they succeeded.

Sometimes they did; mostly they did not.

I admired them and their dedication, although admittedly, I did not understand how they did it. Not until the day the advocate inside me was born. It was unplanned and shocking, but there was no stopping it even if I tried.

For starters, explaining to family and friends that my baby was dying of something they’d never heard of was my first role as a rare disease parent advocate. I found my voice as a writer to communicate my feelings and explain her disease. And when words fail me, I depend on my camera to tell a story that doesn’t always require words or sometimes can’t be expressed with them.

Much has changed for me since the day I discovered the world of rare disease. At this point on my journey, I have the benefit of hindsight and perspective, both of which are very useful tools in life. In the very beginning, after the shock wore off and I came to terms with my world turning upside down, I felt that I had an important role to play in educating people about rare diseases. Why? If I didn’t know they existed, then I figured others out there didn’t know about them either. And, beyond the basic starting point of awareness, from there the path leads to understanding, and from there, hopefully, to discovery.

Statistically, one in every 10 people will have a rare disease at some point during his or her life. As I sit and write this to you today, you or a family member may have a rare disease you’ve never heard of or has yet to be discovered. The National Institute of Health defines a “rare disease” as one that affects fewer than 200,000 people in the United States. This definition of a rare disease was included by Congress in the Orphan Drug Act of 1983. There are approximately 7,000 diseases or disorders that qualify for this designation. Because of the Congressional Orphan Drug Act of 1983, the term “orphan disease” is often used interchangeably with “rare disease.”

Anyone who has an orphan disease, or in my case, has a child who has one, can understand the harsh poetry of that term.

Perhaps because I have been very open and vocal about my daughter’s rare disease, I feel as though much has changed in the last three years in terms of awareness. I have met so many amazing parent/patient advocates, born out of necessity, who’ve filled the ears of their friends, family, neighbors, communities, and legislatures with stories about rare diseases.

In the early days as an parent advocate, I was overwhelmed in every sense of the word – emotionally, physically, financially, spiritually — as I grappled with the day-to-day of my daughter’s disease. At times, the grief felt heavier than a human should endure, with a learning curve that seemed beyond my grasp and understanding.

I now recognize my own face amongst those advocates I once couldn’t fully comprehend. I have watched other rare disease advocates find their voices, walk the hallways of their own state (and national) Capitol building, and educate themselves beyond their training. On the flip side, I have met parents who don’t want to talk about it publicly for reasons of their own, which I can respect. Not everybody is an advocate and that’s okay. Advocates advocate for people who can’t or won’t do it for themselves.

For me, Rare Disease Day is every single day of the year. I tell everyone our story. I am not ashamed of my child’s disease, our mutations, her disability, our struggles, any of it. It is the life we have and there is much joy to be found in difficult circumstances. This is our one shot at life – life is not the same for all of us, but an end is inevitable for everyone. I choose to live in the light and enjoy the days as they are given to us.

My hope on this Rare Disease Day, February 28, 2017, is that if you are a person who is afraid to tell your story, or plan an event, or speak with a legislator, that you use this day to try something new. Maybe that means telling just one person your story. Whatever form, use this day to live in the light, share your story through your tears, educate your neighbor or community about something new to them, and above all, know that your voice matters. You never know when or how you can make a positive difference in somebody’s life.

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Thinkstock photo by boggy22