Rare Disease Day 2021

jana rare disease day

At what age were you diagnosed with XLH?

There is no fixed date my diagnoses have changed in my childhood like underwear changes its wearer. But thanks to my genetic test, I finally had a firm diagnosis.

Meet Jana!
Jana is 35 years old and lives in Germany. It took her a long time to understand what her disease is, what it means and how exactly she can be helped. Her medical care was poor for a long time until she found the right doctor who listened to her and could finally help her. She has been able to overcome severe depression and has become a strong colorful person who finds something to laugh about at least as often as she is in pain. Her head is so colorful that she is now an artist because her head explodes in colors! She will soon start with a new therapy that scares her a bit and still looks very confident and strong into the future!
To read her full story please check here: https://xlhalliance.org/portfolio-item/jana/


What do you enjoy most in life?

This is definitely the abstract art, through it I can paint all my mental garbage out of my head and my volunteer work with the various associations of my disease. I have found so many contacts with like-minded people, people who have the same suffering and problems. This has already offered me a lot of help and the whole community of XLH is just uniquely great!.

Who or what makes you laugh?

Vanessa! Because she is so much like me that we say we are twin siblings. She understands my sarcasm and we laugh so often with each other just by looking at each other.

Who is your role model?

Ivar Ragnarsson the Boneless (Alex Høgh Andersen from The Vikings). He has been physically handicapped since birth. He has no bones in his legs. The disability does not prevent him from learning how to fight. He is also highly intelligent and sharp-tongued.

What do you do to relax?

Clearly going to my physical therapy and Inken (my Art).

Are you receiving professional, medical treatment?

Yes, in the bestI can wish for right now.

Are you particularly afraid of something?

That I must suffer further stress fractures. In the meantime, however, I am participating in a clinical study and will soon receive a new therapy, with which I hope that I can counteract this danger a bit in the future.

What do you do when you feel bad?

A break. I think when you’re in a bad place, it doesn’t do any good to just keep going through the motions and push yourself to do things where your body and mind are on strike. A break for me means to go into the forest -to turn off your head. A smart and great person calls this: taking out the trash (Peaceful Warrior!).

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

Two repositioning osteotomies.

What did you have to learn in your life with XLH?

PATIENCE. I do everything three times as slowly as a healthy person. Things fall out of my hand all the time and I fall frequently. This often makes me angry inside. But you have to learn to be patient and accept that you need time and not “take over”. What I can’t do, I just can’t do. But then I can do other things.

What advice would you give to others in your life?

None at all. Everyone has to overcome very different challenges in life and thus gather his own experiences and draw conclusions on how to deal with them. I find advice in general less good than real help! Help is something much more useful! Shoutout to all of you who helped me over and over again so much, you can not believe how rich this makes me <3

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