To The Moon and Back: A Message to Rare Disease Parents

Rare disease parents are some of the most dedicated and loving people you will ever meet. As a rare disease advocate and storyteller, I’ve had the privilege of meeting and interviewing many of them. So when Effie Parks, host of the podcast Once Upon a Gene, asked me to contribute to one of her storytelling episodes with the prompt “To The Moon and Back”, I immediately thought of the pure and fierce love that these parents have for their children. This is my message to all rare disease parents, grandparents, and caregivers of any kind. (My segment begins at 7:42, but the entire episode is great and worth a listen!)

As an adult with Phenylketonuria, or PKU, I am keenly aware that I am here because of the love, care, and compassion of others. PKU was discovered in the 1930s, the treatment was developed in the 1950s, and newborn screening for it began in the 1960s… 60 years ago this year.

Of course, I am thankful for the medical professionals… the geneticists, dietitians, researchers, and all of those who have dedicated their careers to improving our lives.

But today… I want to take a moment and express my profound gratitude to another group of people… people across the rare disease community, not just those in the PKU or metabolic disorder communities.

But to all of those who are driven by indescribable love.

Parents.

There is something so special about a parent of a child with a rare disease.

Advocate. Bulldog. Cheerleader. Nurturer.

I’ve been incredibly fortunate to have been on an advocacy journey since 2012. I’m a filmmaker, and in late 2011 I produced a short documentary called “My PKU Life”. I told my story, and the next year I started traveling across the world, producing videos about PKU and sharing my story.

Until that time, I was completely cut off from the PKU, newborn screening, and rare disease communities. I was isolated. I knew no one like me. No one who understood the challenges I faced daily… except for my parents, my brother and his family, and my wife. Other than that, I was alone.

But when I engaged with the community and began traveling, a new world opened up to me. Life was different before, and I knew it would never be the same after. It’s been incredible to meet so many parents in our community. It was humbling to hear how they discovered my film shortly after receiving their child’s diagnosis, and that it gave them hope. I still get messages like that, all these years later.

And one of the best parts of it all has been seeing the love that parents have for their children with a rare disease. They sacrifice every day. Some have left careers behind. Others have created amazing organizations. They’ve held fundraisers and raised incredible amounts of money for research.

They have moved things forward and enabled progress in the PKU community with new treatments and quality of life improvements. Yes, researchers and industry partners have made that happen. But it’s our parents, our bulldogs, who continually remind them why it needs to happen.

And now… there is an entire generation of adults with PKU who are thriving in life. Many of them are incredible advocates now.

And that’s because we learned well from our parents.

A group of mostly PKU adults on the last day of the 2022 National PKU Alliance Conference. We’re friends on social media, but we absolutely cherish the time we get to spend with each other at events like this.

We still face many challenges in the PKU community, such as access to our prescribed medications. But we all, parents and adults with PKU, are fighting hard for change.

I’m also keenly aware, as a member of the wider rare disease community, how fortunate the PKU community is. That many parents affected by rare diseases face a diagnostic journey… while most of us are diagnosed at birth because of newborn screening.

And that 95 percent of all rare diseases have no treatments. While treatments for PKU have been around for about 70 years.

I hope, with all my heart, that within my lifetime progress is made with other rare diseases… progress like what we’ve seen in the PKU community.

And the thing is… I know it will happen. Because I know the fierceness within the rare disease parent.

So, on behalf of all of us… the children, teens, and adults living with a rare disease… the ones you have moved heaven and earth to care for…

Thank you.

We literally wouldn’t be here without you. We may have different abilities, different treatments, different lifestyles. But we are alive. And life is a beautiful gift that you have given to us, and continue to give.

Our hearts are full… because of the love that you have poured on each of us.