Sally’s Colour

Rare Disease Day 2021

At what age were you diagnosed with XLH?

18 months. I’m a spontaneous case and there is no one else in my family with XLH.

Sally is 29 years old and was diagnosed with XLH at 18 months. She is a spontaneous case and no one else in the family is affected. She had 4 surgeries after the age of 17. Sally knows how hard it can be to be different and therefore how important it is to treat people with kindness and acceptance. Part of her is also grateful that she is affected by XLH because it has allowed her to meet some amazing people and see life from a different perspective. In 2019, she took part in a podcast about rare disease and met one of the doctors who discovered the gene for XLH. This meeting was emotional for both of them. Sally says: "Don't take anything for granted and my time to do the things that are important to you. I'm learning to accept that XLH is progressive, and that my operations have limited some of what I can do and may do so even more in future, so I do my best to make sure I do the things that make me happy while I have the chance and to do what I can to stay healthy and active.”

Sally

What do you enjoy most in life?

Friends and family, and food! Also travelling.

Who or what makes you laugh?

I’m a big fan of the marvel movies and TV shows and there’s usually always something in there to make me laugh!

Who is your role model?

My mum and my Grandma who are
always strong and determined, even when things are hard.

What do you do to relax?

I love pilates to relax and also find it really helps to alleviate my XLH symptoms.

Are you receiving professional, medical treatment?

I currently take phosphate and see my doctor twice a year for check ups.

Are you particularly afraid of something?

As a child I had a severe phobia of needles so that was the worst thing about my XLH treatment for me, but I eventually had some treatment in my early twenties and can deal with them much better now.

What do you do when you feel sad?

I’ve had to learn the importance of rest when my body needs it, and also that if something is bothering you then it’s better out that in, so to accept that you’re struggling and to talk to someone. Also being British a cup of tea usually always cheers me up!

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

I’ve had 4 operations for my XLH, and all since I was 17 years old.

What has living with XLH taught you?

How hard it can be to be different and how important it is to treat people with kindness and acceptance. But I’m grateful that having XLH has allowed me to meet some amazing people and see life from a different perspective, which I never would have done otherwise.

What advice would you give to others in your life?

Don’t take anything for granted and my time to do the things that are important to you. I’m learning to accept that XLH is progressive, and that my operations have limited some of what I can do and may do so even more in future, so I do my best to make sure I do the things that make me happy while I have the chance and to do what I can to stay healthy and active.