Despite having symptoms of Hypophosphatasia (HPP) since birth, Melanie was diagnosed with HPP at age 51 by a Metabolic Bone Specialist at The Robert Jones and Agnes Hunt Orthopaedic Hospital in Oswestry.
“Pain has been part of my life for as long as I can remember. As a child, I didn’t know that I had a rare condition. All I knew was that I was in pain most of the time. The pains used to circulate around my body and I remember complaining to my mum about it. At birth, I was a floppy baby, and the doctors recommended traction to help. As a youngster, I couldn’t sit up without propping myself up. I remember visits to the surgery for “growing pains” and “foot issues”. To cut a long story short, I had an operation on my back at the age of 13 and have more recently had many cortisone injections throughout my body. I have had bony spurs and inflamed tissue removed. I’ve had invasive operations in both shoulders and a total shoulder replacement. I have also survived dark times of depression. Apart from that, I’m “fine”!
I always wanted to work. So, despite the challenges that I have faced, I have managed to adapt my situation and create a lifestyle to work with my difficulties. For example, because I wasn’t able to work for others due to tiredness, pain and stamina, I have been self-employed, so that I can plan my days, or even work from the sofa or bed if needs be.
I have two daughters and four wonderful grandchildren. I am relieved that, at the moment, none of them seem to have symptoms of HPP. My family have been my rock over the years, and they know how I’m feeling just by looking at me. My husband is extremely supportive. We have been together since we were teenagers. So, he understands my needs before I even mention them.
For many years, I didn’t complain in public about my problems and would just try and carry on regardless, but then I would “repent at leisure” for days. More recently, I have found that I can no longer hide my symptoms. In some ways, that has been helpful, as now some people will offer help or consider that I need to sit down, help with my coat or opening doors, etc.
Living with a long-term health condition often means that you have some very difficult times. Some of the hardest issues to come to terms with are losing your independence and having to rely on others, as well as losing the ability to join friends doing activities or just looking after your grandchildren on your own. To deal with this, I have found that I need to take antidepressants all the time. This helps. Volunteering has also played its part in distracting me from dwelling too much on my restrictions, and I have gained much satisfaction through helping others and my community. I have learned that taking time for myself is essential and I spend quite a lot of time creating artwork. I work with hot wax and tools (encaustic art), as I find that the heat helps with the pain. I become so engrossed that I can lose all track of time. If you are interested in my artwork, you can view my website here: http://www.melaniewilliams.net/
My husband is retired. This now means that I can do more than I used to, as we can share the burden of the housework, cooking, etc, which used to sap all of my energy. It also means that we have more time to do “fun” stuff. One of my biggest concerns has been losing my muscle tone, and being overweight and generally unfit. I have done a lot of research and just bought myself an electric recumbent bike. There is a proper seat and the steering is at hip level. Now I can get outside in the sunshine, do some exercise, and get some vitamin D. I can even just sit there in comfort if I get tired. Exercise has been a huge problem for a long time, as so many activities are too strenuous or painful. Having found that I can cycle is a massive boost and joy.
At age 60 and one day, I was approved for “Strensiq” (a drug used to treat the symptoms of HPP). I have had symptoms since birth but only received my diagnosis at 51 after years of collecting evidence myself. It has taken over a year of waiting to hear this news. I am now sharing my experiences of “Strensiq” on my blog here: https://www.hppandme.com/
The future will be challenging but I hope I can retain my “glass half full” attitude to life, keep busy, and find ways to adapt.”
Thank you to Melanie for sharing your story. We really appreciate it. If you have HPP and would like support with your condition, please contact us on firstname.lastname@example.org or 0845 241 2173.
If you would like to share your story to help raise awareness of your condition, please contact Maggie on email@example.com or 0845 241 2173.