Hypophosphatasia Awareness Day - HPP and Me

2017 Hypophosphatasia Awareness Day

I have lived my life with a very rare condition called Hypophosphatasia. I have two daughters and four gorgeous grandchildren. We have built our own home and travelled extensively in our camper van so life isn’t all doom and gloom. I hope my story will give an insight and raise the awareness of this rare metabolic bone condition today on Hypophosphatasia (HPP) Awareness Day 30th October 2017. I wrote an article featured in the *Climb publication a couple of years ago which some of you may have seen and this is in my previous blog but my story continues as challenges arise so I have added to it.

During the last couple of years as I’ve become more restricted and I am investing more time in my encaustic artwork. The heat from the hot wax and tools gives me some relief from the pain meaning I can spend longer in my studio. I love to experiment with the technique and in turn this is a great way to relax and express myself in a positive way. I’m extremely thrilled to say I’ve just been invited to add a piece of my artwork to the ‘Imago Mundi’ Welsh Collection. I have also been featured on the ‘ITV Coast & Country programme’ demonstrating encaustic art. I now also run encaustic workshops in my studio at home. You can see my artwork at www.melaniewilliams.net

I am also back volunteering again. ’Climb’ wrote to me asking if I’d be interested in taking part in the ‘Rudy Study’. *Rudy is a study in Rare and undiagnosed diseases. Headed up by a research team at the University of Oxford, Rudy aims to transform clinical care for participants through patient driven research. I am now part of the study as a patient living with HPP but also as a patient representative on the team. The number of rare diseases in the study is growing as more researchers join the network. If you live with a rare disease have a look at the Rudy Website and consider joining.

During the winter months of 2016 I followed a ‘Mindfulness’ course. I was trying to teach myself to take regular breaks and pace myself to make sure I could keep going and cope with my pain. For a while I enjoyed riding an electric bike to try and keep up my muscle strength — it was still painful but much easier than walking for me and great to be out in the fresh air.

Our lifestyle continues to change and just a 12 weeks ago had a total shoulder replacement operation.

It has been a slow route to recovery but I am doing OK. My consultant gave me a huge blow though and told me I can never again ride a bicycle as the juddering on the road surface will definitely loosen the fixing of the replacement joint. This is a massive shock as I so enjoyed being able to do some form of exercise outside in the sunshine.

My healthcare team are learning with me about HPP. Also I am taking part in studies looking at the effects of HPP on adults. I am enjoying my Public and Patient Involvement with the Rudy Study and recently gave a talk at the *Climb Conference to the first ever meeting of the ‘Soft Bones UK - Hypophosphatasia Support Group’ - you can see my presentation on You Tube: https://www.youtube.com/watch?v=tv5o9KfYt08. I shall continue to work on raising awareness of this rare condition in the hope that one day we will have a cure.

My mobility has taken a real hit over the past 12 months due to degenerative and calcified tendons in my heels and the whole plantar facia is inflamed making walking extremely painful. I’ve found this particularly difficult to come to terms with especially now I am unable to get about on my bike. I’ve also been unable to drive because of the problems with my shoulders. Mick, my husband, is extremely supportive but life as a carer can also be tough. Apart from seeing me in pain every day he does so much for me and has been my chauffeur, chef, shopper and even my personal dresser!

So three months following my shoulder operation I felt I needed to get my ‘sparkle’ back and have just bought myself an automatic car. It is fantastic to have my independence and I am once again able to make a plan for the future. This will mean that Mick can be freed up too and do ‘stuff’ he likes without feeling guilty. Mick is still very active and we have decided that he should ‘go for it’ and do his skiing, biking and whatever else. Now I have my car I have my freedom and life feels exciting once again. I hope that I can retain my spirit to keep adapting and face the unknown future.

*Climb is the leading patient organisation for Inherited Metabolic Disorders, supporting thousands of families worldwide. http://www.climb.org.uk/

*Soft Bones UK Hypophosphatasia Foundation -A group strictly for events, raising awareness on the condition hypophosphatasia (HPP) and we hope to become a registered charity.  Facebook https://www.facebook.com/groups/209345909183307/

*Rudy Study - A study in Rare and undiagnosed diseases. Headed up by a research team at the University of Oxford, Rudy aims to transform clinical care for participants through patient driven research. www.RudyStudy.org

#HPP #Hypophosphatasia #softbonesuk #softbones