Carol-Anne Partridge, Chair
I am a parent of a child with CDKL5. Amber was born in 2005 and was diagnosed just before her 4th birthday. Nothing can prepare you for having a child with a disability and certainly nothing can prepare you for having a child with CDKL5. To match her determination to succeed, I decided to set this charity up in 2011 to raise awareness of the condition, support those affected in UK and Europe, and most of all to raise money for vital research. As parents, we still face challenges when our children are poorly, as CDKL5 is still not widely known in the general paediatric profession, and regularly face lack of understanding of this devastating condition. Through this charity we aim to change that.
Sarah Skillicorn, Trustee
Hi, my name is Sarah Skillicorn, I am a busy nurse and wife but most importantly I am mummy to Gracie who has CDKL5. Gracie was born in 2004 and made our family complete. She finally got her diagnosis of CDKL5 in 2009. For me those five long years in limbo were a difficult journey to undertake, drifting but getting nowhere fast. But if you’re here and reading this then I guess no explanation is needed.
My light bulb moment came when I found my CDKL5 family; bonded together we are stronger facing this journey together. CDKL5 is extremely rare and little is known about it. Along with my fellow parent pioneers we aim to change that for the better. As experts in our children we wish to educate and raise awareness. To be there for the next family facing this diagnosis, to offer advice, support and a good sturdy shoulder. I am privileged to be a part of the birth of this charity, to stand with others and know I am making a difference in the future for my daughter and so many more. I always believed that I would teach my daughter about the world but instead I find myself teaching the world about my daughter. And so welcome, I am sorry that you have had to seek us out but am very glad that you have found us.
Friendship isn’t about whom you have known the longest…..it’s about who came and never left your side.
Adrian Partridge - Trustee/Secretary
I am Dad to Amber, and work in Programme Management. I am glad to be a founding member of CDKL5 UK. This condition has dominated our life for the last 10 years, although we have only had the diagnosis for only 6. I have no doubt that we can do great work for the CDKL5 community. We are dedicated to relieving the social isolation that families face, as well as making an impact with research.
Amanda Black - Trustee
I am Amanda and Mum to Olivia who was born in June 2008. Olivia was diagnosed with CDKL5 at the age of 11 months after many hours of research and discussions with various neurologists. I am also a Haematology Senior Staff Nurse on an adult haematology hospital ward.
Olivia having her diagnosis of CDKL5 not only meant the invasive testing could stop but helped me to quickly understand Olivia and Olivia's needs but also what I needed to do for her. It gave me more clarity in the pathway that was to be Olivia. Having CDKL5 as a diagnosis enabled me to research what it meant for so many beautiful children and their family's living with CDKL5.
I am extremely honoured and proud to be part of the CDKL5 UK charity and look forward to assisting the charity in the future challenges it will no doubt face.
Sarah Malins - Trustee
I am Mummy to Evie who is living with CDKL5. Evie is nearly 3 years old and received her diagnosis in June 2012. We have only been living with CDKL5 a short while but we found our CDKL5 family so quickly it was amazing. As there is so little known about this rare genetic condition through paediatricians i have the comfort in knowing I have my CDKL5 family I can go to for advice and support. I hope to help CDKL5 UK spread awareness, raise money, and be there for support as other families are for us.
'A friendship is born at the moment one person says to another: what you too, I thought I was the only one....'
Martyn Newey - Trustee/Scientific Advisory Group (SAG) Co-ordinator
I am Ellie’s dad and I work as a spine surgeon in Leicester. Ellie was diagnosed with CDKL5 in 2010, and, like many other parents, I have developed my own website about Ellie and CDKL5. I have a basic understanding of genetics and cell biology from medical school which has obviously helped me to understand some of the science behind CDKL5. I constantly look for new information and try to present this in a form that I hope is readable and understandable to all who want to learn more about CDKL5.
Sapna and Nilesh Patel - Trustees
We are Jia's parents and live in the West Midlands. Jia has a younger brother, Jai, and sister, Asha. I used to work as a Trading Standards Officer before I became Jia's full time carer, and Nilesh works in IT. Jia was born in 2005 and was diagnosed with CDKL5 in 2009 - a month before her brother Jai was born. The diagnosis was a relief as Jia had been tested for pretty much everything else going! Having a diagnosis, for us, meant that we could move forward in our lives and look towards a future. We can help Jia move forward with a group of friends who would also be going on this journey too. Enabling our whole family to support and be supported by them through the good times and the bad.
Nico Hansen - Ambassador for CDKL5 UK
My name is Nico Hansen, and I have a daughter Lili who was born in 2005. Although she was born in Munich and spent her first few years in New York, she was diagnosed with CDKL5 at Great Ormond Street Hospital in 2010, just after my family had moved to London.
I became interested in CDKL5 at that time although more recently my interest was triggered by Martyn Newey’s website and I made contact with him and CDKL5 UK. I would like to help raise awareness of CDKL5 and contribute to drive further research in order to help find a cure.
I now live back in Munich although I still work in financial services in London.