Leo - Living his best life

I'm Leo, I live in Northern Ireland and will be 2 years old in July '23. I have been diagnosed with a very rare genetic condition called KAT6a Syndrome.

I was a preemie, born at 32 weeks, the Dr's knew I was a special little man and I had genetic and neurology testing done, all these tests came back normal. The Dr's didn't realise just how unique I was until May '23 when I got my diagnosis, less than 400 people in the world are diagnosed with KAT6a. 

Common symptoms of KAT6a Syndrome include varying degrees of intellectual disability, delays in reaching developmental milestones, delays in being able to speak and communicate and diminished muscle tone. Additional symptoms including abnormalities affecting the heart, eyes and gastrointestinal system can also occur.

In Nov '22 the Dr's found a hole in my heart and I'm waiting to go for open heart surgery in Dublin, this should be in Summer '23.

I do physio, OT and speech&language everyday and see NHS therapists numerous times throughout the year. I work hard to learn new skills and I now know how to roll. I can't crawl, stand, walk or talk......YET!

We are fundraising for private therapies to help me develop these skills as well as for any equipment I may need in the future. Intensive therapies are available in England (Napa Centre) and I would love to attend next year once i've recovered from my heart surgery. We would also like to raise money for charities/organisations that have helped me. The Children's Heartbeat Trust are helping us through the heart surgery and The KAT6 Foundation are doing lots of research into my syndrome and hope to develop treatments in the future. Check out their pages below:

https://instagram.com/childrensheartbeattrust?igshid=OGQ5ZDc2ODk2ZA==

https://instagram.com/kat6foundation?igshid=OGQ5ZDc2ODk2ZA==

I look forward to sharing my journey with you all and hope to raise as much awareness for KAT6a as I can. We will keep you all updated here and on social media.

Thank you for reading all about me and for all the lovely well wishes and support.

Leo