Olivia – CDK13-related developmental disorder

Olivia is 18 years old and her favourite things are dance, drama, music and animals. She loves people and makes friends wherever she goes.

CDK13-related developmental disorder

She has CDK13-related developmental disorder which is incredibly rare with only 157 cases in the world. She is the only one with her particular variant. She was one of the first to be diagnosed with the disorder after being part of the DDD study and was included in the first published article. Her photo appears on Wikipedia which we all find amazing!

Day to Day life

Olivia’s #RareCondition affects her in various ways. She has a gastrostomy, multiple food allergies, skin reactions and pain on a daily basis. She also has autism and finds it difficult to navigate and try to fit in to a world which often doesn’t understand her. She is very trusting of people and this can make her incredibly vulnerable, which as a parent, makes thinking about her future very daunting.

Olivia is bright and has an amazing smile. I love that she is so proud of everything she does and she makes us proud of her every day!

Support

After spending the first 13 years of her life without a diagnosis, it was so strange for it to suddenly have a name. Being both incredibly rare and newly discovered, information is very limited and we are learning alongside others who also have the diagnosis.

Throughout Olivia’s life we have felt very unsupported which I find really sad. This has changed in the last 12 months when I joined the private Facebook group for those affected with #CDK13 and we also found Cambridge Rare Disease Network and joined Unique Feet.

We now have people who understand what we are experiencing and a feeling of belonging which has become hugely important.