Rare Disease Day 2021

Eva Rare Disease

At what age were you diagnosed with XLH?

I was first diagnosed with “vitamin D resistant rickets” at the age of 5 at Vienna General Hospital

Eva is 72 years old and lives in Austria, about 60 km west of the Austrian capital Vienna. At the age of 5 years, her "vitamin D resistant rickets" were diagnosed. At that time, the actual cause of the symptoms was not yet known. As a result, she was not treated with appropriate medication for more than 40 years. Despite multiple operations on the legs, spine and teeth, Eva was always positive lyre and very active in her younger years. She was a passionate skier. After having an osteotomy at the age of 42, she stopped training for fear of injury. Life with her husband and two daughters, as well as being with her grandchildren, always gave her strength to deal with the discomfort. Despite her illness, Eva became a strong and lively personality who loved to be in company.


What do you enjoy most in life?

Getting together with family – especially grandchildren – and meeting up at the coffee shop with girlfriends.

Who or what makes you laugh?

Funny experiences and cabaret.

Who is your role model?

don’t have a role model.

What do you do to relax?

Despite the discomfort, I can relax well by gardening. At home I like to cook and knit.

Are you receiving professional, medical treatment?

Yes, I am currently undergoing treatment at the Hanusch Hospital Vienna, the competence center for rare bone diseases in Austria. 

Are you particularly afraid of something?

Of further operations.

What do you do when you feel sad?

Watching TV or reading distract me.

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

At the age of fiveboth my legs were cut and plastered several times. At the age of 14, my thighs were altered and at 42, I had an inversion osteotomy on my lower right leg. I had a hip replacement ten years ago and a knee replacement in 2019. I have already had two surgeries for spinal stenosis in the thoracic and lumbar regions.

What has living with XLH taught you?

Accepting the condition and dealing with stares and teasing.

What advice would you give to others in your life?

To talk about problems and feelings with familiar people.

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