Enthousiasm trumps sceptisism

The year has started well for me…

Me with my personal "birthday tie" the teacher made for me!

For starters I had my birthday – huray! I turned 14 last week (7 according to mom) and I had a blast with my classmates – the whole day was about me and I loved it. As I hate wearing crowns or hats and stuff, my teacher made me a beautiful birthday tie. I looked awesome with it as you can no doubt see in the picture below 🙂

In the evening, after dinner, my parents had a surprise birthday cake for me with candles and fireworks on it. Mom blew out the candles for me and I enjoyed it a lot. Birthdays are fun, especially if it’s my own!

My birthday cake - it was "yummie"!

As I mentioned in my last blog, my dad has been in touch with the Roya Kabuki Program in Boston and we received the wonderful news that I can participate to their program. Their research team is currently exploring the underlying mechanisms of Kabuki Syndrome in order to create targeted therapies and treatments in the future. They are also hoping to expand upon the known natural history of Kabuki Syndrome.


Ready to give some more of my blood for further examination

But the exciting news didn’t end there for me. As I also mentioned we had an appointment with a children endocrinologist in the hospital of Kortrijk in the hope she would take on the challenge to get me back on growth hormones. The visit went very well and she agreed to file the necessary paperwork to attempt to get me back on them. I am realistic however… we live in Belgium and bureaucracy was virtually invented here! The approval needs to be given by an ethical commission of a university hospital so this might take a while… but I’m hopeful still.

The doctor also agreed to give me a full screening again of my bloodwork to see if there are any specific values that might be off. This might be an indication of something we hadn’t found yet and that could drive our quest for getting better in a new direction. A long shot, but without long shots, man would still be convinced the earth was flat right?

On the orthopedic path I’m happy that my new standing apparatus finally arrived last week. It will take some getting used to, but is should help me stretch my muscles so that I can walk easier. Today I spent my first hour in it and that was long enough for me. I threw my toys away and cried so that my parents knew I had enough of it. Afterwards, mom did some walking exercises with me. We played “tag” together and in doing so I managed to walk from the kitchen to the living room without getting out of balance – a true victory! The leg splints however, had to return to the specialists… they hurt my feet and I can’t wear them at al. Luckily I can still fit in my old ones for now, so we’ll manage for the time being. Good thing these things come with a warranty service 🙂

My new standing apparatus - Orange is the new black

Finally my dad spent his evenings and weekend studying. He’s been catching up on his reading and learning about my genetic condition. Understanding how genetics works and what all the effects of a genetic disorder like mine can be. He says it’s more complicated than rocket science… but honestly, he’s no rocket scientist either so how can he tell the difference 🙂 Anyhow, he hopes to understand it all a bit better so that he can have more meaningful conversations with the doctors in the future. That can’t be bad now can it?

KDM6A - the gene that is missing a part in my DNA

He did find this cool picture which shows the genetic sequence that is missing in my KDM6A gene. He found out I’m missing about 15.000 letters in my DNA alphabet – considering the human genome is made up of over 3 billion of these genetic letters 15k seems very little – but they still made a huge mess of it didn’t they? Understanding better what this missing part controls is his next study subject. His very own “finding nemo” project!


I’m more confident than ever that I will be able to make more progress. That one day I’ll be able walk, eat, talk and dress myself and believing in my own capabilities is the key to success.


Hope you enjoyed this weeks blog and stay tuned for more!


Have a great week!


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