Katy's Cam Half for CAMRare

In 2019,  after months of having our concerns dismissed, our daughter, Viola, was diagnosed with Kleefstra Syndrome (KS). KS is an ultra rare genetic condition where a tiny piece is missing or switched around on chromosome 9. This stops a gene called EMHT1 from working properly and is linked to a whole spectrum of complications and symptoms.  
Learning that your child, who you of course love more than life itself, possesses a de novo rare genetic condition is heartbreaking and feels completely overwhelming. Very little evidence-based information was available online and the available peer reviewed literature focused on extreme cases. At the time of diagnosis we were told our little girl would probably never talk, walk or live an independent life and would likely have a whole host of complex health conditions. We felt deep grief for the loss of the child we thought we had brought into the world and the future possibilities we had excitedly planned out for her, which felt like they had been ripped away. The sense of guilt we also felt in grieving for a child who was still very much alive was incredibly hard to process and excruciatingly isolating. 

Whilst Viola has so far pushed back against this bleak prognosis to a large extent, the last six years have been full of challenges: regular hospital and therapy appointments, navigating a well-meaning but truly broken SEND system, virtually no sleep and the challenges inherent with raising an autistic girl (and one that also loves hugging strangers!)  To add a further layer of complexity, we have dealt with these challenges all whilst dealing with the aforementioned grief and isolation, despite feeling overwhelming love and pride at every milestone she reaches, which she does, in her own time.  
We chose early on not to label Viola and to let the people she encounters in life judge her for who she is and not her diagnosis (which makes creating this page a very big step for us!).  She has developed a network of friends who know she is different but respect that and look out for her.  It has been a joy to watch this happen over the last five years with no need to force it and by allowing her to express herself the way she chooses to, even if that does often result in a trip to the shop taking longer than it will take me to finish this event by some margin! She has helped us – and many others around us - reframe what we value in life, bringing joy, love and laughter to every single person she meets.

CamRARE unites patients, experts, and advocates to accelerate rare disease diagnoses, treatments, and care. It aims to make rare diseases an everyday conversation, recognising that while individual conditions are rare, they collectively affect 1 in 17 people in the UK (3.5 million), with 75% impacting children. Rare conditions profoundly affect entire families, leading to isolation and mental health challenges. CamRARE provides vital inclusive activities for children and young adults. However, these initiatives require funding. Donations, such as £55 for accessible water sports or £43 for adaptive horse riding, directly support these crucial opportunities.

It is because of this great work that I wanted to represent CAMRare in this year’s Cambridge Half Marathon.  It also gives me a great fitness and mental wellbeing target! Any support you are able to offer by way of sponsorship will be hugely appreciated!