Rare Disease: What I Wish I’d Known Upon Diagnosis

Rare Disease: What I Wish I’d Known Upon Diagnosis

Rare diseases are rare and, yet, it’s not so rare to have one. Over 25 million Americans live with a rare disease (NORD).

I am one of them. Maybe you are too—or maybe you know someone who is.

A rare disease is defined as one that affects fewer than 200,000 individuals in the US—with over 7,000 identified rare diseases.

National Organization for Rare Diseases

Rare Disease Day is marked globally every year as the last day of February—the rarest date on the calendar—to underscore the nature of rare disease and what patients face. It’s a day for rare disease warriors to rally together and spread awareness.

Four years ago, I wasn’t aware Rare Disease Day existed. Ever since I have been living and learning about life with a rare disease.

Living with a rare disease was never in my plans, but along the way, I’ve learned that beauty and suffering can coexist. Even so, there are some lessons I wish I had learned sooner. I pray these lessons learned will help you find abundance amid your journey.

Be Kind: Rare Diseases are Often Invisible

Before opening up and sharing my rare disease diagnosis with friends and family, there was no way for people to know. Externally, I looked fine. I went about my days and no one was the wiser. In actuality, I had daily pain to contend with.

Very few people knew I had a rare disease—until I suffered mobility loss. Suddenly, my rare disease was on public display.

If you personally aren’t living with a rare disease, there is likely someone in your life fighting one. While a person might appear fine, it doesn’t always mean they are. Many rare diseases—and the accompanying side effects and symptoms—are invisible.

The best course of action? Be kind. The surface only tends to reveal part of the story. Choose to encourage and support people whenever possible. It goes a long way.

Be Your Advocate: Your Life is Your Responsibility

A few years ago, walking into a doctor’s office, I placed my full confidence in the people taking care of me. That has since changed.

I learned the hard way that I have to be my advocate; my life is my responsibility.

It is a doctor’s job to provide exceptional care; it is our job to ensure we are receiving it.

When it comes to rare diseases, the harsh reality is that some doctors know less than you. It becomes our job to find professionals that strive to know more, that don’t settle for the status quo.

Being your advocate isn’t always easy, but it’s essential.

When something isn’t working, you have reservations, or something unusual is going on, it’s critical to communicate concerns. Don’t be afraid to voice your thoughts—each one of them is valid. You never know how that “one thing” may mean something more significant than you realized.

Your life is your responsibility. Even when it’s hard, be your advocate.

Speak up, ask hard questions, question why, get a second opinion, and—whenever possible—bring along someone you can trust to shoulder some of the burdens.

Find Connection in Community

Rare disease can be a lonely battle. Connecting with others was something I failed to do for a long time.

1) I didn’t know where to begin.

2) I wasn’t convinced it would benefit me.

3) I wasn’t sure what community I belonged to.

Amid difficult days, these feel like valid excuses to put off finding community. To some extent, they are, but once you’ve experienced community, you realize what a gift it is to have a place where you can feel known, understood, and supported.

When life isn’t all rainbows and butterflies, you need people who get it.

Hearing the stories of others reminds you that you aren’t alone. In community, you hold hands on the hard days and celebrate on the best days. In community, you find hope and connection.

Community can provide you with the strength you need to face the unknown. Don’t wait to go find it.

Don’t Let the Disease Define You

Battling a rare disease, it can begin to feel like your whole world, like this thing has taken over your life and consumed every aspect of you—but it doesn’t have to.

You don’t have to let your disease define you.

While my rare disease battle has shaped me and refined me, it doesn’t define me. It is simply one aspect of my life.

There are days when the struggles of the disease pull more strongly than any other aspect of my life. That’s okay—sometimes the disease requires a significant portion of what we have to give. But that does not mean our identity is found in the disease.

My disease is part of who I am. While I don’t discount the impact the disease has had on my life, I don’t give it more credit than it deserves.

You get to decide. Don’t let your disease define you.

Continue to Live a Full Life (Even When It’s Hard)

Every rare disease is unique and brings with it challenges—an unknown future is a universal struggle. What do we do? How do we move forward?

We live a full life—even when it’s hard.

One of my doctors gave me exceptional advice—which he tended to repeat as needed. He emphasized the importance of not allowing my disease to take over my life—to continue living a full life even amid challenging circumstances.

As rare disease warriors, that is what must be done. We must pursue a full life given the obstacles at hand. We must live our life the best we know how.

When you do, you’ll be surprised by the beauty that awaits.

Living with a rare disease—even if it’s for the rest of your life—can shape you for the better: a deeper faith, strength in your convictions, an empathetic view of pain and suffering, more intentional living, and beyond.

It is possible to take something hard and turn it into something good.


Rare Disease Day is a day to #ShowYourStripes as a rare disease fighter. Do you live with a rare disease or know someone who does? How has a rare disease impacted you? Share in the comments.