Rare Disease Day 2021


At what age were you diagnosed with XLH?

Honestly, I do not know yet if I have XLH.

A genetic test was arranged for me on 29.12.2020, and I am still waiting for the result.

Meet Doreen!
Doreen is 43 years old and has not yet been diagnosed for sure. Her symptoms are consistent with the rare condition of XLH, and she has recently had a genetic test to be sure, but is still waiting for the results. She has not had good medical treatment for years because she was not taken seriously when she said she was in excruciating pain. Doreen has already had 15 operations. Still, Doreen can enjoy so many little things in life that make her smile and have fun. She appreciates days when her pain is not so severe. Her role model is herself: "What I have achieved in my life alone, not everyone can do!”


What do you enjoy most in life?

There are sooooo many little things that make me smile and enjoy myself. I am happy about every day where the pain is not so strong.

Who or what makes you laugh?

I am so crazy that I can laugh at myself 😉

Who is your role model?

I don’t have a real role model. I am my role mode l;-) What I have already achieved everything in life alone, not everyone can do.

What do you do to relax?

The only thing that helps is sleep or a hot bath.

Are you receiving professional, medical treatment?

Yes, I am under treatment with several health professionals and under treatment with the monoclonal antibody.

Are you particularly afraid of something?

I don’t like frogs and snakes. Referring to XLH, the fear of not being able to walk is already quite big.

What do you do when you feel sad?

Crying, withdrawing for a certain time or sports. Going for a walk and listening to music also helps to bring light back into the darkness.

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

To date, there have been about 15 which have likely been as a result of XLH.

What has living with XLH taught you?

That I am “different” and need a lot of patience. In kindergarten and school I was teased for my malposition of the legs and the bad dental condition. There was the saying “O said the legs and Xten of it.” Or “You stink from the mouth, like a cow from the ass.” Those were the worst sayings that have remained in my memory.

What advice would you give to others in your life?

Every person is unique as he is and therefore does not need advice from others. You can only learn something in life if you find your own way.

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