Rare Disease Day 2021


At what age were you diagnosed with XLH?

I am indirectly affectedMy daughter was diagnosed at 15 months. 

What do you enjoy most in life?

Spending time with my grandchild and traveling. I look forward to being able to combine the two one day.

My story begins in the 90s. Besides everything I had imagined and wanted for my life, I always wanted to become a mother. When I had my first child, this little miracle was the greatest gift for me. A year later it was clear that she was not well, but the cause was not easy to find. The diagnosis of a rare disease was for me like having the rug pulled out from under me. At that time, I had no internet where information and contacts could be found and I felt helpless and alone. I was pregnant again and those around me could not understand why I wanted to have "another" child. A child is a gift for me and the illness doesn't make it worse, just special.

In this situation, I began my search for other families who had to deal with this diagnosis. In the beginning, there were only a few families who were in contact with each other and supported each other. The Phosphatdiabetes e.V. emerged from this association of affected people and their relatives. I was there when it was founded and was active on the board from the beginning, first to help my daughter and not least myself.

At that time, I would not have believed that we would be able to achieve so much. It is not the merit of one individual, but together we have achieved a lot. Now there is much of what I so desperately needed back then.

I couldn't and can't change the fact that my daughter has this rare disease, but I can help people to cope better with it and walk part of the way with them.

You don't always see the meaning behind what happens to you straight away, but I firmly believe that there is. Living with hypophosphataemia has changed me. Sometimes it's the things we can't change that change us. Maybe I would never have met a lot of great people and not have this very special connection with my daughter.


Who or what makes you laugh?

I can laugh about many things. My grandson does it very reliably.

Who is your role model?

My father! He has a very eventful life story, which has certainly contributed to his great knowledge and love of human nature. He is an incredibly smart and very interested person who is still willing to learn even in his old age. I experience him as loving, warm-hearted and understanding.

What do you do to relax?

I find the greatest relaxation when I go hiking with my husband and my dog.

Are you receiving professional, medical treatment?

My daughter received professional, medical treatment from the beginning. She was lucky, the doctor who diagnosed the condition found and called in a specialist at the time.

Are you particularly afraid of something?

I am very afraid that something will happen to people I am close to or that I will lose them. 

What do you do when you feel sad?

Often talking to someone close to me help me. Sometimes it takes a sofa and my dog or a walk.

Have you had any operations because of your XLH and if so, how many?

Does not apply. The bow legs have largely grown out under therapy.

What has living with XLH taught you?

I had to learn that not all the people I thought were friends would stand by me when things got tough.

What advice would you give to others in your life?

I try to find meaning in the things that happen to you. Everything has a meaning, you just don’t always see it right away. Some things have to happen so that other things can happen.

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