Rare Disease Day 2021


At what age were you diagnosed with XLH?

Spontaneous mutationunfortunately only at 9 years of age.

A side effect of my XLH is my deafness. In the meantime, I wear two cochlear implants (hearing prosthesis) and have learned German Sign Language (DGS). The topic of hearing impairment has given me a lot of experience over the past years. I have met many people and changed my profession. Today I am an audiotherapist and peer counsellor, helping and advocating especially for people with hearing impairment. The connections between XLH and deafness are very important to me and I wish to be seen more here. I hope that the next few years more knowledge and experience on this will be researched and made public.


What do you enjoy most in life?

To share my experience of the disease and my associated deafness.

Who or what makes you laugh?


Who is your role model?


What do you do to relax?

Lying down, going on the accupressure mat, doing physiotherapy.

Are you receiving professional, medical treatment?

Yes but currently no medication.

Are you particularly afraid of something?


What do you do when you feel sad?

Neverthelesstry to accept life and the resulting handicaps.

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

Operations on the legs.

What has living with XLH taught you?

That the disease is complex and affects us all very differently. Also learning to listen to your own body.

What advice would you give to others in your life?

Never lose your smile and your belief in yourself. Life is a story and only you can write it.

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