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. 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 I had the unique honor of speaking at newborn screening symposiums in Finland and Brazil. As a creative professional it was indescribable to screen 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 much 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.

First, 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 people who live with one of the other 7,000 known rare diseases? 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 have 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 your 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 cliché to say, “We can all make a difference.” But the greatest lesson I’ve learned is that it is true. If you will speak up you might be surprised at who listens.

By: Kevin Alexander, M.A.
President – Creative Control Films: www.creativecontrolfilms.com

Kevin Alexander was diagnosed with Phenylketonuria (PKU) at birth. PKU is a rare genetic disease in which the body cannot metabolize protein. He has followed a low-protein diet and consumed metabolic formula, and has subsequently lived a normal, productive life. He is President of Creative Control Films and has over 10 years of experience in digital cinema & video production. In November, 2011 Kevin produced a short documentary called “My PKU Life”. The video has since gone viral in the PKU and rare disease community, and has subsequently been viewed all across the world. The success of the film has encouraged Kevin to become more active in advocacy for PKU. He is a guest expert and host of videos appearing on the Patient Power PKU Health Center website. His advocacy work, however, is not limited just to PKU but extends to newborn screening as well. He was the Keynote Speaker at the PerkinElmer Annual Newborn Screening Symposium in Naantali, Finland, and at a newborn screening symposium in Curitiba, Brazil. He is also a member of the International Society of Neonatal Screening and serves on the National Advisory Committee for Genetic Alliance.

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