My name is Nele from Belgium and I have hypophosphatasia. The first time I heard about HPP the look on my face was at about as puzzled as trying to make a fish eat a banana. I had never heard of it.
Yet it has been in my life for as long as I can remember. I had my first fracture when I was just 2 years old. Before that – even though I was not a fussy baby- eating was tricky as I projectile vomited. Little fun fact, my dad quickly learned to put me on his lap with my face away from him. My journey didn’t end there though, and I spent a lot of time in emergency rooms with my parents waiting for X-rays or the resetting of bones. I’ve also had kidney issues, hypermobility issues, food issues and other things.
I didn’t get my diagnosis for a very long time though. No one really ever connected the dots. I was sent to a university clinic to see if my hypermobility issues could be the cause of all my problems. There genetic testing was done to rule out connective tissue syndromes. However, they also tested for the ALPL gene but failed to share the results with me. It was only when my own physician noticed this that I got a referral to a clinical geneticist. The geneticist gave me the diagnosis of HPP and left it there. I felt lost and had no idea where to turn. Here I had this super massive big name for a condition and no idea what to do with it. I started digging around and found an article written by a Belgian doctor. I managed to get an appointment in with this person at the department of rare metabolic diseases and was finally on my way. It took me 39 years of fractures, kidney issues, fatigue and the lot.
Meeting up with people who were actually specialized in HPP was a step into the right direction. It wasn’t enough however. I lacked the support I needed to adapt my life for the better. I was added to a study group and the doctors did their best to help me with the means they had available. I was told was that there was medication for HPP but not available in my country. After that I found Soft Bones.
In Soft Bones I found a whole community. A community who stands behind her members and very often functions as a family even. It has given me the insight I need on a daily basis to learn how to function with HPP, but it has also given me recognition and acceptance. Soft Bones also give me the drive to get the HPP diagnosis for my mother.
HPP has affected my life very deeply. The things I really loved to do I can’t anymore and sometimes that gets very tough. Re-inventing yourself and re-adapting on a day to day basis is crucial when living with a condition as HPP. I work full-time but that is all I can manage. Most days off I am sleeping or resting because the fatigue takes so much out of me. I try and find things for myself to do that I love, so I draw a lot and I indulge in gaming.
There is a little bit of advice I’d love to offer my fellow HPP patients. Be kind to yourself. Know some days are better than others and rest when you need it. There is no harm in self-care. Reach out to the community. Soft Bones is here to help. And we may be rare, but we are plenty in kindness.
HPP doesn’t discriminate. Nor is it specific. Just like our HPP community, it expresses itself differently for each individual and we all have to find different ways to deal with it. But we’re doing it together.