Rare Disease Day 2021


At what age were you diagnosed with XLH?

Almost 3 years old, new mutation.

What do you enjoy most in life?

I enjoy reaching goals that doctors says is out of my reach, i also enjoy weight lifting, and most of all i enjoy my friends and family that tries on a daily bases to understand my pain and stiffness.

Dwayne Johnsson said " When you walk up to opportunities door, don't knock it… Kick that bitch in, smile and introduce yourself. "
This is a quote I've been living up to my entire life, i fight for what i want, doesn't matter if it's "impossible" to others, u can do what ever u want if u put your mind to it. However, getting the right help if u have a rare disease, that sure is impossible.
I've been asking for help the last 3 years, backpain, too short muscles after surgery's, not being able to straighten out my back etc, everywhere i turn i get the same words spoken back to me "u need a real evaluation and we won't do that here". To keep the story short, this has led to stress fractures, and disc herniation, this combined with everything else has led to the fact that i can't walk or even stand anymore, where did my life go? and why can't i get help ANYWHERE.
Ok, lets leave the complaining. Here's a fun story.
When i were six years old, i did a surgery on both legs at the same time, i had casts from my hips all the way down to my toes, and i just wanted to do what every other kid did during the winter, so i went skating, ( on my cast ) so that i had to redo my cats, 1 week later i wanted to go sledding, however, i only had a small hill close to my house, so i used my but crawling to the top, jumped in and began to go down, then i realized that i had to stop before hitting the house wall, so i slammed down my heals and used them to brake, which after a few times resulted in yet another recast, all the doctors laughed at me, telling me I´m a stubborn and positive little girl.
The point of this story is that we with XLH are extremely stubborn and definitely intend to have as much fun as everyone other kid.


Who or what makes you laugh?

My family, my friends and my coworkers, or just a really bad joke.

Who is your role model?

To be honest, my dad, who has min taking care of me, fighting for/and with me since the day he noticed something was different about me, he learned everything he could about XLH, since I’m the first mutation in our family he had to learn A LOT.

What do you do to relax?

I mostly play video games, or workout with VR ( cause of corona ) otherwise i would had spent my time at the gym.

Are you receiving professional, medical treatment?

Yes, however i wouldn’t say its professional since I´m not getting the help i need to be able to keep walking/standing.

Are you particularly afraid of something?

Never being able to walk again.

What do you do when you feel sad?

I try not to feel bad, I´m an extremely positive person, however I think this is something that a lot of people that gone through a lot of surgery’s, and a lot of pain always has, I also believe that we are really tough people and that we see the good things instead of the bad ones.

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

Yes, A LOT, lost count many years ago, external fixations such as illizarov, taylor spatial frame, casts, plates in my femurs and so on.

What has living with XLH taught you?

I’ve learned that u have to keep your head up high, be positive regardless of the outcome, you also have to learn A LOT about XLH, more than doctors, to be able to explain this to every doctor u meet, in hope that someone might understand and care enough to try and help.

What advice would you give to others in your life?

Keep on fighting, focus on the good stuff.

share on