Rare Disease Day 2021


At what age were you diagnosed with XLH?

Diagnosed at 2 years of age.

Is there a particular story you'd like to share with us?
I started my surgeries when I was 11 years old. Ever since I had the use of reason, I knew one day those devices on my legs would be removed and that they had to operate on me. The day my surgery was scheduled, I jumped with excitement in the office. I didn't know what I would face. But it happened and here I am. I did 4 surgeries with 11 osteotomies, and 30 nails and 2 künchers. My greatest pride is my scars, they are the mark of my new beginning, I used for 9 years a pair of shoes with metal and straps. My first sandals at 17 years old with a cane in hand. Today neither cane nor crutches nor anything similar. It can be done with effort and with faith in God.


What do you enjoy most in life?

I do exercises, swimming, spinning and climb Ávila (mountain that surrounds Caracas)

Who or what makes you laugh?

My daughter. I enjoy it to the fullest.

Who is your role model?

haha I don’t know who. Myself hahaha.

What do you do to relax?

I listen to music, sing and go for a walk.

Are you receiving professional, medical treatment?

Yes, with professional medical treatment (phosphate solution + calcitriol + vitamin D).

Are you particularly afraid of something?

I am afraid of a wheelchair and kidney damage.

What do you do when you feel sad?


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

11 lower limb osteotomies with the use of external fixators (ilizarov) and plates that I still have in both tibiae.

What has living with XLH taught you?

I didn’t learn anything out of the ordinary or usual. Since I was born with this condition and it is the only lifestyle I know. I do everything of a normal person. As such, it costs me a little more than others, but I simply don’t notice a difference in what is normal and what is not.

What advice would you give to others in your life?

Enjoy it. There are no physical limitations. But mental.

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