Case study: Carol-Anne Partridge

 

Carol’s daughter was only 12 weeks when she started experiencing seizures. She was later diagnosed with CDKL5, a rare genetic disorder that results in early onset of epileptic seizures and problems with neurological development. For a mother and carer, it was important for carol to gain a better understanding of this condition, so she reached out to support groups and parents in similar circumstances. But the absence of a standardized treatment or sufficient research in this field proved to be a major challenge.

Carol founded the charity CDKL5 UK in 2015 to raise awareness of this condition, support the families and patients and raise money for research.

“Our aim is to support families and fund innovative research in the UK,” says Carol.

Carol is also an activist and is involved in a number of campaign groups for epilepsy and rare diseases. “I work as a social worker and therefore am passionate about keeping children safe and having better outcomes for children. This includes children with disabilities who are the most vulnerable in our communities.”

For a small charity access to appropriate guidance and support is of paramount importance, and Carol stresses that Findacure serves as the medium to access the necessary information. “I think the work they do is vital, they have a lot of experience of working with a specific rare disease and sharing the knowledge has been a life line for small organisations such as CDKL5 UK all of whom are volunteers/parents of children affected and most have day jobs.”

She gives particular examples of how Findacure’s workshops have helped their charity. “I find the networking is great. It is useful to hear experiences from larger charities so we are able to also benefit from their experiences. I recently attended an event, where Battens Disease Family Association gave a talk. I found how they used universities in their research programme really useful as this is what CDKL5 UK are now hoping to do.” She continues.

“I believe growing expertise in the UK in our particular rare disease is essential. Findacure is an excellent organisation, striving to support a community and making like for organisations such as ours just that little bit easier.”

Findacure is grateful to our volunteer Samiksha Pattanaik for writing this case study.