On top of the podium with a rare disease

Elena is unstoppable

Each year, Rare Disease Day offers the human genetics community a special opportunity to raise awareness of rare diseases and the people living with them.

Elena Semechin

While an individual disease may be rare, the same cannot be said for rare diseases as a whole: An estimated 300 million people worldwide are living with a rare disease. This corresponds to around 4% of the global population — roughly the population size of the United States of America. Of the approximately 6,000 known rare diseases, about 72% are genetic in origin. The vast majority start in childhood. These figures clearly illustrate why it is so important to continue advancing research into rare diseases and potential therapeutic options.

For us, Rare Disease Day is even more special this year, as we recently became a proud premium sponsor of gold medal swimmer Elena Semechin, as we announced here on our blog.

Last summer, while I was pregnant, I gave a rather outspoken interview about the lack of support in professional sports for female athletes who wish to become mothers during their careers. Ben Liesfeld [CEO at Limbus Medical Technologies, A/N] read about it in the Frankfurter Allgemeine Zeitung and invited me to a meeting to learn more about these challenges. We had a very constructive exchange, which ultimately led to a partnership. I am truly delighted about this.

“I need a goal to know what I am fighting for.”

Elena lives with cone-rod dystrophy, a rare genetic disorder that has led to a progressive loss of vision since her childhood, leaving her nearly blind. Despite, or perhaps precisely because of this limitation, she has built an impressive career as a professional athlete. She took up swimming in her early youth, and it quickly became clear that it was far more than just a hobby for her. Her remarkable abilities, determination, and sheer willpower repeatedly brought her to the top of the podium — most recently with a gold medal at the Paralympic Games in Paris 2024.

I need a goal. Goals are so important in life. I need a goal to know what I am fighting for. Why shouldn’t I give up and despair now? I told myself: Alright, my goal is to defend my gold title from Tokyo and win gold again in the 100-meter breaststroke in Paris.

However, the path to that goal was by no means easy. During our Q&A session at the varvis® User Group Meeting in January, Elena shared that at the beginning, she had no real understanding of her condition or its implications. Initially, she and her family believed that her vision would improve again. It was only in her teenage years that she realized she would have to live with her eye condition — and she began to withdraw out of shame.

For a long time, I simply could not accept that I had this condition. I lost a lot of valuable time because I could not accept that I am the way I am. To this day, I regret that I wasted so much time hiding and trying to conceal my disease. Now I know: I am special, because I stand out, and that my weaknesses have become my strengths.

At some point, I understood that I need to deal with it openly. I have to address it proactively, tell people directly what to be aware of and how to live with it — and then you can feel at peace with it.

What is the benefit of a diagnosis if nothing can be done?

Like most rare diseases, Elena’s cone-rod dystrophy is neither treatable nor curable. A common criticism of human genetics as a medical discipline is: What is the benefit of a diagnosis if, in the end, nothing can be done about the disease? Most genetic conditions are simply not therapeutically relevant. As a patient, Elena has a clear perspective on this:

Yes, it definitely helped me. For ten to fifteen years, I kept asking myself: What do I actually have? Why do I have this? When that question keeps coming up, it is a huge relief to finally hold a document in your hands that states: This is the cause.

Maybe there will be a therapy one day. Maybe I can learn more, participate in projects, and see whether something is possible. Is research being conducted? What type of genetic defect is it? What is the current state of research? Engaging more deeply with your own condition and gaining a clearer understanding — that is very valuable.

I think that is very intriguing — at least that was my reaction. I wanted to know more and understand the current situation. Maybe something will become possible in the future. For me, it created a great deal of clarity.

Genetic diagnostics also play an important role for many patients when it comes to family planning — and this was true for Elena and her husband Phillip as well.

I can imagine that for some people it is crucial to know: How does my future look like? What does this mean for my children or for having children? For me, it was rather positive, because I decided that I want this anyway. Still, I can understand if others say: For me, this is a no-go.

Back in the pool: Elena is aiming high

Elena’s wish has come true: In 2025, she and her husband Phillip welcomed their son. Between changing nappies, feeding and naps, Elena is already back in the swimming pool training for her comeback. Her immediate goal? Competing in the World Cup in Barcelona in March — the same competition and the same pool as her last race at the beginning of her pregnancy, just six months after giving birth. Her long-term goal? The 2028 Paralympic Games in Los Angeles — and winning her first Paralympic gold medal as a mom.

Elena’s story is as moving as it is inspiring, and we are proud to accompany her on part of her extraordinary journey and to help share her story.

On Rare Disease Day 2026, we stand by Elena’s side — in solidarity with all people living with a rare disease, with their families, and with those who have lost a loved one to a rare disease.

About Elena Semechin

Elena Semechin, née Krawzow, was born on October 26, 1993, in a small village in southern Kazakhstan (Nowowoskresenowka Merke). In 2004, she moved to Germany with her family via Russia as part of a family reunification program. Since 2015, she has been living and training in Berlin under her coach Phillip Semechin as part of the Berlin swimming team at the Olympic Training Center. Today, she is a Paralympic champion in the 100m breaststroke, a multiple World and European Champion, as well as a motivational speaker, ambassador, and model.

After qualifying as a state-certified physiotherapist, Elena moved from Bavaria to Berlin. With access to optimal training conditions, her rapid rise to the very top of the international elite soon followed. Shortly after her greatest triumph — the Paralympic gold medal at the Tokyo Games — she received the unexpected diagnosis of a brain tumor (diffuse astrocytoma). From the very beginning, she was determined to fight the incurable cancer while continuing to perform at the highest athletic level.

After completing 13 months of chemotherapy, she fully committed herself to the new season leading up to the 2023 World Championships in Manchester. Following an extremely demanding preparation, she successfully reclaimed her world title in the 100m breaststroke. Step by step, she is now fighting her way back toward the world record she set in 2019. Her next major goal was the Paralympic Games in Paris 2024 — and once again, she made it to the top of the podium. Her greatest personal happiness followed in 2025: the birth of her son, Klaus Phillip. After her maternity leave, Elena is back in the pool in 2026. Her ultimate goal: the 2028 Paralympic Games in Los Angeles. Elena wants to prove that even as a young mother, she can still compete at the very top level in competitive swimming.

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