2018 now lies behind us and it’s time to look forward to what 2019 holds for us now. I, for one, am convinced that it is going to be a wonderful year full of great new experiences, interesting people and exciting new discoveries and breakthroughs in the medical world. The kind or breakthroughs that will eventually help me and the thousands of kids and adults like me to lead a full and independent life.
Like the Roya Kabuki Program led by the Boston Children’s hospital. The program, that started in 2017, endeavors to find a cure for Kabuki Syndrome and aims to improve the daily lives for Kabuki Syndrome patients worldwide. In September 2018 their website launched and they are planning to update Kabuki patients on the scientific progress that they make during the course of their program. I’m very excited by this initiative and hope to be able to participate personally and contribute actively to it. My dad wrote them an email requesting my participation and we are currently waiting for their reply.
It’s not the first time I contribute to similar studies. Over the past few years I have also participated to the study into the effects of Growth Hormone therapy in Kabuki Syndrome performed and written by Doctor Nina Schott in cooperation with the UMC+ in Maastricht. She has recently published her study and we received a very nice copy of her work as shown in the picture above. Needless to say that the study showed positive effects of using growth hormones with children that have Kabuki Syndrome, I’m the living proof of that!
On a more personal note it’s also going to be very positive year if you ask me. My parents are planning some exciting trips with me this year.
The first trip I’ll be taking is in March when we will be going on a skiing holiday. This will be my very first skiing trip and my mom has up fully equipped and ready to go for this exciting new experience!
As I’m not yet able to walk long distances independently, it will be quite the endeavor but my dad has something special planned for me while we are over there in the French Alps. He has booked several sessions with me on a dualski. A professional ski-instructor is going to take me on the mountain and will try to teach my dad how to use this contraption to get down the hill with me safely. I’m very excited about this and look forward to speeding down that slope with my dad under the professional supervision of a French “handiski-instructor”. I can’t wait until it’s march!
And then there is next summer… we are going to fly over to Los Angeles in the US in July and are planning a roadtrip across various national parks with the whole family. Mom and dad have booked us an RV and we are going to have one of the most exciting holidays ever. We are currently planning to visit Los Angeles and Hollywood, Joshua Tree National Park, Grand Canyon National Park, Monument Valley National Park, Lake Powell, Bryce Canyon, Las Vegas, Death Valley, Big Three National Park, Yosemite National Park, Napa Valley, San Francisco and Big Sur National Park. We’ll be gone almost a full month and mom and dad have already spent a lot of time in planning this holiday. It is going to be furthest trip I’ll have ever made and spending almost a month on the road with my parents and my big brother will allow our family to come even closer together in the vast and stretched nature scene of the USA.
We are all very excited about this trip and we hope that maybe we can even meet with some of you while we are there and share stories and experiences. Many fellow Kabuki families are located in the West Coast so perhaps we can plan some visits. Feel free to send me a personal message if you would like to meet me and my family while we are over there.
Of course there are still a lot of other things planned for 2019. I’ll need some more surgery on my legs (the metal still needs to be taken out) and we are meeting with a new specialist children endocrinologist next week in the hope that we can persuade her to take on my case in order to continue my treatment with growth hormones. More on all that later of course but for now, allow me to wish all of you a great 2019! May all your dreams come true!
I wanted to end with this picture of mom and me dancing the night away on New Years Eve last week. We were invited to spend the evening at our best friends place and we had a wonderful evening. As you can tell I was the star of the evening on the dancefloor 🙂 and it felt great! So I wanted to thank those good friends, Wendy and Davy and their teenage kids Thibo and Milo for that beautiful night and their great hospitality – I love you guys!
That’s it for now, hope you enjoyed this weeks blog and stay tuned for more!
Have a great week!
Jerom