Real People. Real Stories - Kerstin's Story

My name is Kerstin Reichert and I live in Germany.

In September 2022, my life changed.

For some time, I had been struggling with weakness in my legs and feet and knew something wasn’t right. I refused to give up, speaking with one doctor after another—until finally, a company doctor provided the crucial insight: she suspected an underlying disease. Her assessment prompted my treating physician to dig deeper, which led her to Refsum syndrome. Two months later, a genetic test confirmed the diagnosis.

The diagnosis was both a shock and a relief. At last, my condition had a name. But how do you cope with such a rare disease? My doctor admitted she couldn’t support me further and recommended that I contact the Global DARE Foundation as a first step. She also shared the dietary guidelines available at the time and referred me to the University of Leipzig—now one of three Refsum Centers of Excellence worldwide.

The Global DARE Foundation

The Global DARE Foundation quickly became an invaluable source of support and connection for me. I see it as the umbrella organization for Refsum worldwide. It coordinates research efforts and brings together expertise from across the globe. Its distinguished Medical Advisory Board has already made tremendous contributions to advancing our understanding of the disease.

With the support of a five-year grant from the Chan Zuckerberg Initiative (CZI), the Foundation has been building the structures needed to sustain this vital work. I hope that Global DARE will continue to connect people with Refsum worldwide, provide access to knowledge and treatment options, and drive research forward. Its work is essential to achieving faster diagnosis, more targeted therapies, and—one day, perhaps—even a cure.

I believe in supporting this global mission locally—through education, networking, and fundraising for research. That’s why I chair the Refsum Association in Germany, because only together can we make a difference. Kristie, President, and Susan, Vice-President of the Global DARE Foundation, have already made a tremendous impact on our community, and I hope they will continue to reach even more people.

My Life Today

Today, I am grateful—grateful for the knowledge I now have about my disease and for the ability to live well with it. That’s why our association’s motto is: “Understanding Refsum – Improving Lives.” Because understanding is the first step toward finding solutions.

I’m also thankful for my family, who support me in so many ways—whether it’s helping with mobility or adapting meals. My husband, a wonderful cook, has completely changed his cooking to follow the Refsum diet. Occasionally, there are exceptions when it comes to fish—he sometimes eats varieties that I can’t. But that’s okay—our dog couldn’t be happier! Salmon is her favorite, and since I can’t eat it anymore, she occasionally gets a special treat thanks to my Refsum disease.

How I Cope with Refsum

Diet plays a key role in managing my condition, and I do my best to maintain a stable weight—though it isn’t always easy, given my higher carbohydrate intake. Regular physical activity is equally important for me:

• I do weekly physiotherapy with equipment under the supervision of a therapist to strengthen my muscles.

• I have a second weekly therapy session focused on stretching.

• I try to go swimming and jogging regularly.

• In occupational therapy, I work on improving stability and strengthening my affected foot.

• I also use osteopathy and acupuncture to keep my knee pain under control—with good success so far.

My Philosophy

What I like to tell others is that—even with a rare disease—you can still make the world a little better for a small group of people. But we can’t do it alone. We need the support of many—whether to raise awareness among doctors or to encourage others to trust our medical experts and donate to research.

Because understanding Refsum means improving lives.

Thank you for reading this new story on Real People Real Stories.