About Me. Andy.
My Life. With Jourbert Syndrome.
Hi. This is me. Andy. Actually my real name is Andreas Jianhai Kay. I was born in Shanghai, China on December 30, 2016 to my Mom Yi (Rae) Jiang and my Dad, Oliver Kay. Andreas is my dad's second first name and Jianhai is my Opa's first name (my Mom's Dad). Jianhai means "riding on top of the ocean". My grand-grandfather was a captain in the Chinese marine and he fought very successfully many attacks that his nick name became "Jianhai". When he return home from the war and had a son - my Opa - he named him Jianhai. I'm very proud of this name and I'm very honoured to carry his name forward. So everyone calls me Andy though (short for Andreas). And I love that. I also have a nick name in School...Schlitzohr or Schlingel. Yes, it means something like "sly fox". It actually really fits me well. I'm a bit naughty and mischievous sometimes. But always lovable and happy. Yes, that's me. There's even a sign in sign-language for it. Have a look. This picture hangs on my locker in school so everyone knows I'm a "Schlitzohr"...hahaha :-))
I was born with Joubert Syndrome, a rare autosomal recessive genetic disorder (see link). I'm 8 years old now and I'm living in Zurich, Switzerland with my Mom and Dad.
I go to school now. I just finished 2nd grade and after the summer holidays I will be in 3rd grade. Yeah.. It's a special school for kids with disabilities, it's called "Schule für Körper Behinderte - SKB". I guess that is what I have. I'm not sure. From my point of view, I'm just a normal boy. But yes, I have some difficulties walking and I cannot speak. I think it called I'm "non-verbal". but I can communicate with my hand and with my iPad. I'm learning al these skills in my school. I wasn't able to walk for example without any help of a walker or a person. But now I can walk by myself. Against all odds (as my mommy and daddy told me). I love it. I'm getting stronger and stronger every day thanks also to the great therapies I am able to get. I get Ergo-Therapy, Logo-Therapy, and Physiotherapy. I love my school and my teachers and my class mates. I'm looking forward to go there every day. A school bus picks me up at around 8:00 am and I come back home around 6:00pm. I don't mind. I love it. I'm learning so much and I am having a lot of fun.
I'm not sure what the future holds for me. I guess no-one knows. But I know I live now and I want to enjoy this beautiful life of mine to the fullest. I'm so happy to be alive. And to be surrounded by so many people who love me and whom I truly love back.
On my website you'll find more stories about me, which I will keep updating once in a while. You'll also find some background about Joubert Syndrome and also about the Patrons Association my Mom and my Dad put in place to help me live a self-determined and happy life. I thank you from the bottom of my heart for all your support. My love goes out to you. Dankeschön. Xie Xie Ni.
Your Andy.
WHEN I WAS BORN
I was born in Shanghai China on 30th of December 2016 to my Mummy Yi Jiang and my Daddy Oliver Kay. I came a bit too early but all good. Unfortunately I cought a bit of a cold and had to spend the first days in the Hospitals Natal ICU. But all good. After a few days I was able to go home with my mom to my grandparents home in Shanghai. It felt so good to be loved so dearly and to be cared for so delicately by my mummy and my Waipo (Grandma) and my Nabu (Grandpa)...
FIRST DIAGNOSIS ME HAVING JOUBERT SYNDROME
I got diagnosed with having Joubert Syndrome (JS) when I was about 4 months old. My mummy and my grandma noticed that I didn't like to lay on my tummy and wasn't able to hold my head up. They took me to a children's hospital in Shanghai, where the doctors put me in a CT scanner and made an MRI from my brain. The diagnosis was Joubert syndrome. A rare autosomal recessive genetic disorder where there is no cure for it. You can read more about JS on the link above.
CONFIRMATION BY DR. PROF. BOLTSHAUSER, CHILDREN'S HOSPITAL ZURICH
When my daddy learned that I was diagnosed with JS, he reached out to the Children's Hospital in Zurich and was put in contact with the (former) head of the Neurology Department, Dr. Professor Boltshauser. It turns out, the Dr. Prof. Boltshauser is, besides Dr. Marie Joubert who first diagnosed JS in 1969, one of the foremost expert on JS worldwide who researched JS for over 30 years. This is why JS is also known as "Joubert-Boltshauser Syndrome". After studying the MRI pictures, he confirmed that I have JS. But he also provided very valuable guidance to my mummy and my daddy on how to cope and deal with this unfortunate birth defect. A big "Thank You" goes out to Dr. Professor Boltshauser.
MY FIRST THERAPIES
Very early on in my life, wonderful people helped me with getting to know my body and to stimulate my brain trying to overcome or at least manage my "short-comings" or "deficiencies. I cannot put in words, how grateful I am for all the wonderful people I was able to get to know over my lifetime, who provided me with new skills and instilled courage in me to try live my life to my best abilities. You know who you are. You made a real difference for me. And for that, I thank you from the bottom of my heart. I will never forget you.
GENE TESTING
Shortly after Dr. Professor Boltshauser confirmed that I have JS, he suggested that we do a Gene Test to find out more about my particular genetic disorder. JS can be caused by mutations in over 30 genes, with estimates ranging from more than 30 to over 40 genes associated with the condition. By knowing which particular gene mutation is causing my JS, we could find out more about what particular deficiencies I most likely will occur. But testing over 30 possible genes responsible for JS is very expensive. It's CHF 5,000 per gene. You do the math. Fortunately, the University Hospital agreed to do the gene sequencing and pay for it as part of their "research and development" funding. My mom and dad received the detailed report a few weeks later. Now we know what lies ahead of me with probabilities as percentages. I don't understand any of it - and I don't want to. I want to enjoy life and life's experiences to its fullest and don't worry about the future. I want to live today...for more information about the gene testing report click on the "About JS" section...
MY FIRST STEPS
Thanks to the fantastic people from Sportoh GmbH (sportho.ch), I've got my first Thomy Walker when I was 4 years old. I loved it immediately. It allowed me to walk by myself and move around as I pleased. It gave me the confidence that I can do anything in life. One step at a time...
GOING TO SCHOOL
I LOVE GOING TO SCHOOL. Yes, really. Going to school opened up a whole new world for me. From my first days at pre-school, to Kindergarden and to now finishing up my 2nd grade, going to school and learning new skills allowed me to become more confident in myself and my abilities. I also have now new friends that I love to play and be with. A big thank you goes out to all my teachers. You are so wonderful. I love you.
TODAY
What can I say. TODAY IS TODAY. And tomorrow is tomorrow. i'm enjoying my life today and try not to worry about tomorrow. Thanks to all the wonderful and amazing people that are in my life.
Thank you Mom. Thank you Dad. For the incredible and unconditional love that you are giving me. And for treating me as a normal boy. Thank you for showing me how beautiful this world is. Thanks to your patience and daily encouragement my life is filled with happiness, fun, excitement - but most of all: with LOVE.