Alice’s Colour » International XLH Alliance

Rare Disease Day 2021

At what age were you diagnosed with XLH?

I was diagnosed when I was 4, and I’m a spontaneous case.

Alice is 16 years old and was diagnosed with XLH as a spontaneous mutation when she was 4 years old. She enjoys good medical treatment and has been participating in a clinical trial at the Yale Center in Connecticut since 2015 and has had two surgeries so far in her life. Alice is not a big fan of surgery but remains brave and knows it is necessary. Working and showing her "4-H" cow and lamb brings Alice great joy, she enjoys spending time with her dogs Ruby and Herriot and has great fun with highland dancing, exploring with friends and watching the night sky. Alice has two role models, one is her friend Michaella and the other is @Elizabeth Olear. When Alice is not feeling well, she reads her favourite books, visits the farm when she can, talks to friends or family or goes for a walk. Alice says, "I can’t always keep up with what I want to do, and I’m often slower than my friends, but can usually do a job just as well.

Alice

What do you enjoy most in life?

Probably working with and showing my 4-H cow and lamb, spending time with my dogs; Ruby and Herriot, or Highland dancing. I also love exploring with friends when we can, and looking at the night sky.

Who or what makes you laugh?

I tend to laugh fairly easily. My friends and my dogs Ruby and Herriot usually make me laugh.

Who is your role model?

My friend Michaella and Elizabeth Olear

What do you do to relax?

Usually read, go for a walk, talk with friends, or visit the farm if I can.

Are you receiving professional, medical treatment?

Yes. I started at SickKids in Toronto, and still go there every few months. In 2015, I started going to a clinical trial at the Yale Center for XLH in Connecticut and have been on new treatment ever since

Are you particularly afraid of something?

Not related to XLH, spiders and thunderstorms. Related to XLH, surgeries have always scared me. I worry that the pain will get worse as I get older.

What do you do when you feel sad?

Usually read, go for a walk, talk with friends, or visit the farm if I can.

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

Yes, I’ve had 2, to insert and then remove an 8-plate on my left leg to correct knocked knees. For the 9 months I had it on my leg, you could feel the plate if you touched it, which I always found interesting.

What has living with XLH taught you?

I’ve had to learn how to give myself injections. I can’t always keep up with what I want to do, and I’m often slower than my friends, but can usually do a job just as well.