Vanessa’s Colour » International XLH Alliance

Rare Disease Day 2021

At what age were you diagnosed with XLH?

At 4 years old – spontaneous mutation, but I only started treatment with phosphorus replacement at 7 years old, because in Brazil there is a queue to get treatment at the Unified Health System – SUS free, it took me 3 years to I can my vacancy. There were only doctors specializing in XLH in university hospitals.

Meet Vanessa!
Vanessa is 35 years old. She is a spontaneous mutation, and was diagnosed at the age of 4. She has had 12 surgerys in her life, but she says that these surgeries gave her character and a lot of empathy for others. Her motto is: “The ability to reinvent oneself is the greatest ability of a human being.” Vanessa is a biologist and scientist, and is researching her own rare disease which gives her more autonomy and self-care for her life and for the advice of other rare patients.
Vanessa lives daily with chronic pain, including that which comes from a Chiari malformation, which often gives her debilitating migraines.
Vanessa's greatest love is dancing, when she dances it seems to her that she is flying with her eyes open, it fills her with real joy then she loves to be in her own skin. Regina Próspero @reginaprospero is her role model, inspiration, godmother and mentor in her life of rare. With her she learns a lot about wisdom, intelligence, knowledge, generosity, simplicity and what it means to be humble.

Vanessa

What do you enjoy most in life?

Dancing, when I dance it seems that I’m flying with my eyes open, it generates fullness and genuine joy, I love to inhabit my own skin. Living with my animals shows me how simple life can be and we need very little. Being in the middle of nature gives me a lot of peace and gratitude. And also to be with my friends talking nonesense and laughing.

Who or what makes you laugh?

I laugh very easily, I practically live in a good mood daily, I laugh with Maya playing, with very silly things that make me laugh. Close friends just looking to make me laugh, like Jana among many others.

I don’t need much to laugh, oh and my laugh is one of those loud and scandalous laughs. Laughter is therapeutic. I joke that I love silly people that make me laugh.

Who is your role model?

Regina Próspero, my inspiration, godmother and mentor in rare life. With her I always learn, a lot of wisdom, intelligence, knowledge, generosity, simplicity and humility.

What do you do to relax?

I go to the park to walk with Maya – my dog, to stay under a tree enjoying the breeze of the wind and the leaves swaying. Meditate to the sound of birds and lie down with soft music on my bed. Contemplate the beautiful and simple looking at the sea.

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 have anxiety and it is sometimes suffocating, I have no specific fear. Maybe living with XLH the disease maybe would progress to the point of becoming a wheelchair user one day. But, as I lived in this condition for 3 years when I used frames, I don’t think that if one day this happens my life will end, in fact, I believe that it is possible to adapt, even when in the beginning it may feel like despair.

The ability to reinvent oneself is the greatest skill of a human being.

What do you do when you feel sad?

I cry and hugging the pillow a lot, I learned to accept myself and respect myself, I no longer force things that I am not able to cope with at the moment, time is a holy remedy, as well as living one day at a time. I believe that crying washes the soul. I talk and pray with my Master, the Lord Jesus, I cry and I hear praise, I feel the presence of God, prayer is like a hug that I cannot see, but I can feel in my essence and I call a friend who knows how to welcome me in love without judging.

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

Yes, I already had 12 orthopaedic surgeries on the legs the last two in September and October last year, with correction of the genuine varus deformity using external fixators, I gained 14 cm on each limb. Then I started having stress fractures, which meant I needed plates and nailing in my femurs. This meant I learned to walk 18 times over.

What has living with XLH taught you?

The XLH surgeries gave me character and a lot of empathy.

That fresh starts are eternal choices, never ending. That I always have to reinvent myself and adapt to new injuries, that discouragement is part, but never give up. That with perseverance and patience, respecting my process, without comparing myself to anyone, I can go much further than I once dreamed, just believe in yourself. Perseverance is the key word of our existence and never giving up on our dreams, we can achieve everything, the difference is that it will be in different times and ways. But, it is going slowly and always. Defeated is the one who gives up fighting! We must always strive for quality of life with joy.

What advice would you give to others in your life?

May you seek to live your truth, your essence, fight for your dreams, live life as you believe, live your values, but never impose them. That you shouldn’t care so much about what others think about you, it says a lot more about them than it does about you. Focus on you!