Rare Disease Day 2021


At what age were you diagnosed with XLH?

I am spontaneous and diagnosed at the age of 5, after many tests and hospital admissions.

Sandy is 52 years old and was diagnosed with XLH at the age of 5. She is also a spontaneous case of XLH. Sandy has had 15 interventions related to XLH. She has learned to be extremely resilient and always have a smile on her face, no matter how much pain she is in or what is going on in her life. She feels support groups are important and necessary and have given her the opportunity to network with other XLH patients who can understand this daily struggle. Sandy enjoys spending time with family and friends, time is precious and memories are everlasting. Sandy says: "Live life to the fullest, tomorrow is never promised and don't live with regrets. Never be defined by your condition or illness, don't be afraid to ask questions and taking the time to listen to others can make a difference in that person's life, even if just for a few moments.”


What do you enjoy most in life?

I enjoy spending time with family and friends, time is precious and memories everlasting.

Who or what makes you laugh?

My family, friends and XLH family make me laugh. My hubby, Peter is pretty good at making me smile and laugh too! There is nothing like some video chat time with your overseas friends to make you smile. 

Who is your role model?

I don’t have a role model, but I have many people who have made a difference in my life.

What do you do to relax?

I find it very hard to relax and switch off. I enjoy the freedom and exhilaration of riding (motorbike) with my husband when my joints permit! I am also obsessed with crime documentaries and why people commit crimes (currently in my last year Criminology study). My favourite theorist is Sigmund Freud.

Are you receiving professional, medical treatment?

I haven’t had traditional medication since my early 30’s and see my endocrinologist and orthopaedic surgeon when I need to. I have been advocating with other XLHers to get Burosumab approved for treatment of XLH in Australia and look forward to the positive changes it has made to this condition.

Are you particularly afraid of something?

I fear losing my independence and the unknown issues with XLH as I get older. I also am concerned with the burden I will become on my loved ones.

What do you do when you feel sad?

I have days of self-pity and have realised this is ok. I think of my daughter’s struggles from a very young age with XLH, which puts my feelings and thoughts into perspective.

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

I have had approximately 15 procedures relating to XLH.

What has living with XLH taught you?

I have learnt to be extremely resilient and always have a smile on my face regardless of how much pain I am in or what is going on in my life. Patient support groups are critical and necessary and have given me the ability to connect with other XLH sufferers who understand the daily struggle.

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.

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