Updated: Jun 4, 2020
Since being diagnosed with X-linked hypophosphatemia (XLH), Sally has put rare disease advocacy front and center in her life, empowering young people to have their say
When I think about my experiences as a patient advocate, what stands out to me the most is that only two and a half years ago this universe didn’t exist for me and I didn’t know anyone else with my condition,
X-Linked Hypophosphatemia (XLH).
So what changed?
XLH is a rare metabolic bone disorder, it can be inherited but it can also happen randomly which is what happened to me. Having XLH means that my body doesn’t keep enough of the mineral phosphate which is essential for bone and muscle development, so my bones are weak, stiff, and achy, and I’m more likely to get stress fractures.
XLH also causes bending or ‘bowing’ of the legs, and people with XLH often look and walk differently.
During my teens, I found it really difficult to accept having a condition and being different. People stared at me in the street and made insensitive comments and I became severely anxious. Being the only one I knew with those symptoms, I felt alone like there was no one else who could understand. In the end, I chose to have major surgery to change the bowing in my legs and I had three operations between the ages of 17 and 21, and then another at 25 when I had my first fracture. Recovering from each of the operations was hard work. I spent time in a wheelchair, took time out from studying and work, and had months of physio. However, in a weird way it gave me a new way to start conversations with people about my XLH. As I got older, I started to wonder if there was a way for me to share my experiences so that other young people didn’t need to feel as isolated as I did.
Then in 2017, my hospital invited me to an XLH information day organised by Metabolic Support UK where I met other people with the condition for the first time. Finally, I wasn’t alone and it showed me that there was a community out there and people willing to listen.
Afterwards, I was inspired to start using Instagram to blog my life with XLH and to connect with others. Another young patient, Oliver, was setting up a UK support organisation (XLH UK), and so I volunteered to help, and signed up as a community ambassador for Metabolic Support UK. I knew that I had found what I wanted to do and a way to make my difficult experiences count, and a year later I applied for my job as young person’s project officer.
Now, advocating for rare disease patients is the centre of my life and what I do.
STYPA group, Vinenna
Last year, I was lucky enough to attend the Summer Training for Young Patient Advocates (or STYPA), organised by the European Patients Forum, where I spent three days with other young people from across Europe living with rare conditions, learning about what advocacy means and what we could achieve together. I also went to a meeting of the international XLH Alliance with families from as far away as Israel. Most recently, I took part in a public campaign and art gallery to raise awareness that 1 in 17 people in the UK will be affected by a rare disease at some point in their lives.
It’s been a whirlwind adventure and now I can’t imagine how much difference it could have made to me, if I had had access to these communities when I was younger. I’m certain I wouldn’t have felt so lost and afraid if I had seen how much people with XLH, and other rare conditions, can live happy, healthy, and proud lives.
I’ve seen that, as patients, the most powerful thing we have is our voice and our experiences. At Metabolic Support UK, we use feedback from our community to understand what we need to do. I also see how medical professionals, people designing and approving medicines, and even politicians, rely on insight from patients to make important choices.
As young people, I believe we’re the future of our own treatment. My job is all about understanding the needs of those who are in between ‘child’ or ‘adult’, and more and more people are recognising that it’s a unique age group, requiring unique services.
I’d say to any young person out there living with a rare condition that the world is changing and listening. If you feel able to, then use your voice to speak up and share your experiences, good and bad. If that’s not for you, I’d encourage you to get in touch with a patient organisation where there will always be someone to talk to and share your concerns, and who can take your views forward to make real change.