In this blog post, I reflect on the power of choices and how they can impact the world. I share personal stories of my life with PKU, a rare metabolic disease, and how advocating for rare diseases has taught me self-respect, confidence, and courage. I encourage readers to acknowledge their accomplishments and use their voices to inspire others to discover their passions and talents and do their part to impact the world. This is a reflection on the latest episode of Never Give Up: A Rare Disease Podcast, available on Apple Podcasts, Spotify, or wherever you get your podcasts.

Week 6: The Power of Choices – Making an Impact on the World

Writer’s block. It happens.

And there’s not really a word for the same feeling regarding being on camera. But I’ve had that as well. I was in a routine of recording reels for Instagram and Facebook.

But I’ve been thinking about this episode. And I just haven’t had much to say.

The story is about a man I knew who was killed. In his death, he is still saving lives.

I was comfortable talking about it in the episode. But I didn’t want to record any promos for the episode. Because it felt like I would have been exploiting his death. I did enough of that when I worked in the news. I don’t want to repeat it, and especially not about someone I knew.

So I’m not going to reflect on the story itself. I’ll just point you to the episode and ask you to listen. Everything I have to say about my former colleague Thomas is in there. Except for one thing.

Heroism never dies.

Reflecting on the Power of Choices

The story is about the power of choices, and how we can all have an impact on the world. I’ve spent the week in a reflective mood. If you know me at all, you know that’s been my default state for the last year.

Something happened last summer (I’ve talked about it before on this blog and shared it in Episode 1 of the podcast, so I won’t recount it here), and ever since I’ve been thinking a lot about my life. Life before advocacy when I was working in TV news. Life from the last decade or so of my travels across the world, and the privilege I’ve had to speak and share stories for the PKU community. And life during the pandemic, when I took a much-needed break from advocacy and social media.

The thing about living under a rock for a couple of years… In your isolation from your community, you can forget what they mean to you and what you mean to them. You can forget experiences you’ve been through and your accomplishments.

Acknowledging my accomplishments, and talking about them, does not come naturally to me. I have to work at it. Some people think it’s bragging or self-promotion. But there is a healthy sense of self-respect one needs to have to live a well-balanced life. And if you have accomplished things in life, it’s OK to talk about them… It’s how we inspire others to discover their passions and talents and encourage them to do their part to impact the world.

I’ve been a rare disease advocate for a little over a decade now. And I’ve talked about how amazing that experience has been because it introduced me to so many people in the community.

But it also changed me. It taught me self-respect, confidence, and courage.

I’ve seen how one choice I made – the choice to produce my short film “My PKU Life” – has made a difference in my life and in the lives of others. That’s why I believe every voice matters. I didn’t believe that mine did. But I used it anyway. I spoke up and shared my story. And life changed.

This will make this kind of long, but I want to share this article anyway. Over the years I’ve spoken and written a lot about PKU and rare diseases. But this one is special to me. I was asked to write a guest blog for The Balancing Act, Lifetime TV’s morning show. I called it Lessons I’ve Learned Living With A Rare Disease. It represents the kind of message I was sharing back in 2013 when I was new to advocacy. And my message remains the same.

You can have a profound impact on the world. Because your story matters.

Lessons I’ve Learned Living With A Rare Disease

When I was nine days old my parents received a phone call from our doctor. There was something abnormal on my newborn screening test. I was diagnosed with Phenylketonuria (PKU). PKU is a rare metabolic disease in which the body cannot adequately process protein. Since then I’ve been on a low-protein diet, and I’ve had to drink a special formula full of PKU-friendly protein. For the first 31 years of my life I didn’t know anyone with PKU. I had adjusted to my lifestyle, not realizing the incredible benefit of connecting with other people with this disease. That all changed in November 2011.

I’ve been a professional news videographer and documentary filmmaker for the last 13 years (Edit: This was written in 2013, so it’s been over 20 years now). And so, in November 2011 I produced a short documentary about living with PKU called “My PKU Life”. It has since gone viral on YouTube and has been viewed all across the world. The film is now available with Russian, Portuguese, Dutch, and Italian subtitles. As the response to the film grew and grew I realized my life had changed forever. I’ve since become an advocate for PKU, newborn screening, and rare diseases. My career as a videographer has taken me across the world to Siberia and Ireland. But last year (2012) I had the unique honor of speaking at newborn screening symposiums in Finland and Brazil. As a creative professional it was indescribable to see my film in those countries. But on a personal level it meant so much to me to speak about my life with PKU, and more importantly, to say thank you to the incredible newborn screening researchers and policymakers from across the world who helped me live a normal, productive life.

When I started to speak about PKU I realized I had to do some serious soul-searching. I had never spoken publicly about my life with this rare disease, and despite my practice of keeping a journal I had never written about it. I had adjusted to my lifestyle, and was comfortable with not speaking, writing, or even thinking about my unique life with this disease. But I ultimately realized my life with PKU has taught me some valuable life lessons, and I think these apply to anyone affected by a rare disease.

I can’t control the fact that I have PKU, but I can control what I do with it.

Control is an illusion. As much as I might wish that I didn’t have PKU, I still have it. I can’t control that. I can, however, choose to do something positive with it. Just talking about PKU on social media, for example, can make a difference.

Life is much easier when you’re not alone.

Despite being alone with this disease for most of my life, recently I’ve been able to connect with hundreds across the world on social media. I can choose to remain isolated, or I can choose to develop relationships with others. I’ve chosen the latter, and have seen how connecting with others can make a profound difference.

Strength comes through weakness and vulnerability.

As much as I’d like to take a “rugged individualist” approach to life, I have to face the facts. I cannot survive without my metabolic formula. It is medically necessary, despite what some policymakers and insurance companies might think. I am dependent on access to this medicine to maintain my healthy and active lifestyle. Some people view such vulnerability as a weakness, but I see it differently. If I’ve learned one thing in my life it’s that strength is an illusion. We are all vulnerable. But vulnerability is the foundation of healthy relationships. Living with my rare disease has taught me humility, thankfulness, and patience.

I cannot worry about what other people think. I will never change their minds.

Some people will never understand the challenge of living with a rare disease. In my experience, some people don’t understand anyone who has health problems, much less people with rare diseases. I’ve spent most of my life overly concerned with what other people think of me. But I’ve reached a point in life where I really don’t care anymore. I want a good reputation like anyone else, but not at the expense of my soul. If someone doesn’t understand or doesn’t care about my challenges living with PKU then I simply can’t obsess about that. Instead, I choose to be thankful for those who do.

Life can change in an instant, for better or worse. Therefore, I always have reasons to be thankful for what I have. In an instant it can be gone.

When I was in Russia in 2011 there was a bombing at the Moscow airport. The blast occurred in the international arrivals area. I had been standing in the blast zone just days before the explosion. I’ve had some surreal experiences in life. When I was in TV news I covered the local angle of national stories like the Columbia Shuttle Disaster in 2003 and Hurricane Katrina in 2005. But being in a foreign country when a terrorist attack occurred, and when I had been in the blast zone just days before, was beyond surreal. Honestly, it was terrifying. When I came home I brought with me a new sense of thankfulness. I might live with a rare disease that can be incredibly challenging at times, but I am alive. I can never take life for granted, because in an instant it can be gone.

Thankfulness has become my lifestyle. I might live with PKU, but my life is much different than most people living with a rare disease. PKU can be screened and diagnosed at birth. And equally as important, it can be treated with a low protein diet and metabolic formula. But what about other people who live with one of the other 7,000 known rare diseases? (Edit: Recent estimates place it at 10,000 rare diseases now) What about those situations where there is a diagnosis, but no known treatment? Or what about those cases where no one knows what is wrong, when the disease is completely unknown and parents live in constant uncertainty?

The PKU lifestyle is a great example of the benefits of research and development in the world of rare diseases. Every child born with a rare disease should have the same opportunity at life that I’ve had. That’s why World Rare Disease Day is so important. We need to continually remind people that rare diseases exist, not just to invoke sympathy, but to encourage people to take action. We need to continually remind policymakers of the value of newborn screening which detects various rare diseases. We need to encourage further scientific research to make sure that any child born with a rare disease can have a healthy life. To see any of these dreams become a reality we must continually advocate for rare diseases.

On behalf of all of us living with a rare disease, we need your voice! Please do something to let people know we exist. And if, like me, you’re an adult living with a rare disease, speak out about your condition and lifestyle. I know how easy it is to remain silent, but those of us who are able have a responsibility to speak on behalf of those who are not. You might think it’s a cliche to say, “We can all make a difference.” But the greatest lesson I’ve learned is that it is true. If you speak up you might be surprised at who listens.

Make Your Choice

One thing that has changed since I wrote that… While I advocate for people speaking up and sharing their rare disease stories, I completely understand and respect the choice of those who do not. I’ve met so many people from so many walks of life, and have learned much because of that diversity. It makes me a wiser person. I will always advocate for people to learn the power of their voice and to use it.

But your story isn’t like my story. While I’ve chosen to speak publicly, that doesn’t mean I believe you have to do the same.

Maybe you never share your story publicly on social media, or in a video, or from a stage. That’s perfectly fine. Who am I to say that your choice is invalid? But I do believe, passionately, that finding the right person to share your story with can change the world for another person.

We often focus so much on trying to make change on a grand scale that we forget that change can occur in everyday life with everyday choices.

Maybe it’s talking with someone at your genetics appointment. Or sharing your experience with a specialist who doesn’t quite understand your experience yet. Or it can be in a small Facebook group. Or a private message.

Your voice matters, and you have the power to create change.

Just by being yourself.