Hi Everyone,

I’m Maisie, older sister to Séamus, and beautiful daughter to Shauna and Tony. I recently turned 3 years old and live in Dublin. At only 6 weeks old, I began having sudden startled movements that looked painful and lasted a few seconds at a time.

My parents brought me to Temple Street Hospital, where I ended up staying for nearly 3 months while doctors tried to understand what was causing my seizures. After countless tests including MRIs, EEGs, lumbar punctures, blood tests and genetic testing, my parents received the devastating news that I had a rare genetic condition called CDKL5 Deficiency Disorder (CDD).

CDD is a rare neurological disorder that causes early-onset seizures which are very difficult to control, along with severe developmental delays affecting movement, learning, communication, and vision.

At the moment, I can’t sit up, crawl, walk or talk. I also have CVI (Cortical Visual Impairment), which affects how I engage with the world around me. But my mammy and daddy knows I love lights and respond best to the colour red against a plain background.

As a baby, I loved my food, but after aggressive seizures my swallow regressed. An x-ray later showed that during feeds, fluid at times was going into my lungs, known as silent aspiration, which caused chest infections. To help, I was initially fed through an NG tube but recently underwent PEG surgery, which means I can now be fed directly into my tummy when needed.

How can you help?

We are fundraising to give Maisie access to private therapies, specialist equipment and intensive treatment programmes that will help her continue to develop new skills and reach important milestones.

Every therapy session, specialist support and piece of equipment can make a meaningful difference to Maisie’s quality of life and development. Our goal is to keep giving Maisie every possible opportunity to progress, thrive, and continue to be a happy wee girl.

We remain hopeful that one day gene therapy and new medical advancements may offer even more possibilities for children living with CDD.

Thank you so much for taking the time to read Maisie’s story. Any donation, no matter how small, is hugely appreciated and will help support Maisie on her journey.

Please also follow Maisie’s Facebook and Instagram pages to keep up with her progress.

With love,

Maisie & Family