“…I have a very personal link to the charity due to my diagnosis with the rare condition Niemann-Pick Disease type C. As you may not know, Niemann-Pick diseases are incredibly challenging to contend with for multiple reasons (physical & mental), and it is only through linking with Niemann-Pick UK (NPUK) that I have been able to create a link with a community. I am based in Ireland only a short distance from the UK but I felt so isolated post-diagnosis. My sister had been suffering from the disease in Ireland for 10 years and only got diagnosed in 2009. She didn’t have the benefit of linking in with this charity and benefit from the information that is available to me currently.
I was diagnosed in 2010 on the back of my sister’s diagnosis, from my own research I found NPUK which was environment for me to share thoughts, frustrations, life worries and good memories. I am acutely aware of the myriad of daily challenges and limitations that accompany it, including, leaving work, physical issues and mental health issues]. This condition not only affects these issues but also provides towards other pressures, i.e. finances regarding my wife and I.
I became involved with NPUK in Sep 2010. The charity has been an integral part of my/ my family’s life since. At the time I didn’t know where to turn but the charity welcomed me with open arms, and I didn’t feel left out! I have since continued my association with the charity, running fundraisers and taking part in Cannes Film accredited content that helps ring the bell and make a little noise with in the charity sector with in the UK and World.
I have seen first hand the difference made by the many volunteers involved with NPUK . For a charity it is ran so efficiently, from Toni Mathesion, Christine in accounts, John and Rares in Socials and Louise the Community Officer and Board Members I can’t see the day to day but on the ground they do incredible events from chats I have with other patients at Conference and their social media content.
The only events we go to are the Irish meeting and the Family Conference & Interactive Workshop on Niemann-Pick Diseases which is held in Wyboston Lakes, Bedfordshire – which is the most amazing weekend of the year. We get to meet other families, doctors, clinical professionals and researchers, and get to find out about up to date trends that are happening in the Niemann-Pick world…”