Today I don’t feel very well. I was sick yesterday too so I stayed home from school and slept most of the day. I am better today than yesterday but still not perfect. I dont like being sick because it maakes me miss school. I like school . I like math even though I have a hard time with it and I like seeing my friends. this week my service dog Mason was sick too which made me worry about him. He was throwing up for 2 days because he ate some ivy so mom called then vet and took good care of him. He is better now which is good because now I am the one who needs to be taken care of .I feel better today than yesterday which is good because I want mom to take me to the drive in .I really like then drive in.
Did you know that Kabuki Syndrome used to be called Kabuki Make Up Syndrome ? The reason for this is because people with K S are born with facial features that resemble kabuki Japanese theater character make up.Just like all kids with down syndrome have similar features…all kids with Kabuki Syndrome have similar features too.This used to be one of the first ways of diagnosing Kabuki Syndrome. Now there is a blood test.
When I was born , no one thought anything was unusual about my facial features because my dad is part native . My Papa looks really native so everyone assumed my wide eyes that looked a bit asian or native was just from my native genes from my dad and my Papa. I wasn’t diagnosed with KS until I was 2 and saw a new geneticist who recognized my KS features.
Today I was dissapointed because I really wanted a sleep over. My new friend in school was supposed to call me this weekend. we switched numbers on Thursday at school and he seemed excited because we planned to ask our parents if he could sleep over at my house. after school I called him but his sister said he wasn’t home. I called him again later but he still wasn’t home. He didn’t call back. I was sad. I called him again today but I got his answering machine so I left a message with my phone number,just in case. he didn’t call back.I feel dissapointed because I really wanted to have a sleep over. I like sleep overs because they are fun. I asked mom if I could call him again but she said no because it isn’t polite to keep calling. He seemed excited to call when we switched numbers so I don’t understand why he didn’t call back. I don’t have a lot of friends in my neighborhood to play with so I really wanted him to come.I don’t get invited to many friend’s places I wish I did.
Mom made this for me. I have Tourettes . I don’t like it. My brain makes me say and do things that I don’t want to do and people sometimes get annoyed but I can’t help it.
Let me introduce myself. My name is Joshua and I am a 13 year old boy who was born with a rare genetic disorder called Kabuki Syndrome which means I deal with a whole lot of overlapping issues…some emotional, some developmental, some medical, some physical. It is a complicated syndrome that affects 1 in 32000 births. I wanted to have a voice in the world so my mom suggested this blog which she will be helping me with but the goal is for this to be MY blog..MY voice…a whole bunch of little pieces of me to give the world a bigger picture of what living with kabuki syndrome is like . I do not write or type well because of fine motor issues so mom will be helping me get my message out. Some , if not many of my posts might even be little videos I make..some serious and some silly. I really don’t know yet as this is sort of an experiment.Please bare with me .I have ADHD as part of my syndrome among many other issues so I am not sure how often I will be posting a new blog. Time will tell. Years ago when I was a baby my mom created a web site to share with family , friends and new doctors that details most of my previous and current medical issues and diagnosis which you can see at http://www.myjoshua.piczo.com
That web server has since closed up shop so you can still read the site but my mom can no longer update it or make any changes to it even to fix problems. The web site hasn’t been updated in a few years but much of my medical diagnosis and many pictures are still there to show a slice of what I have been through in my 13 years. Thanks for dropping by my blog and I hope you come back as I post more entries.