Hi my name is Calvin and I am a 6 year old boy who lives it Michigan, USA and I was just diagnosed with Kabuki Syndrome this past April. I live at home with my dad, Dennis, my mom, Tracy, my sister Miriam (Mimi) who is almost 4 and 2 cats, Sadie and Sybil.
I was born two days before my due date in a small hospital in California. I needed a little extra oxygen so they transferred me to a bigger hospital that night. 5 days later, unbeknownst to anyone, my Patenti Ductus Arteriosusi (PDA) started closing but unfortunately my aortai was cut off. I had to be on medicine to keep the PDA from closing anymore and I was taken by helicopter to UCLA hospital in California where 2 days later I had a co-arctation and PA band on my heart. I was diagnosed with having double outlet right ventriclei, a VSD and coarctationi of the aorta. After several complications and 7 weeks I finally came home.
When I was two months old my mom and dad and I moved back to Michigan to live close to our family and friends. I immediately got sick with congestive heart failure and ended up staying a couple weeks at Children’s hospital of Michigan and they scheduled me for my first open heart surgery at 4 months old. We had a lot of ups and downs the first 2 ½ years of my life. I had 2 open heart surgeries; the last one included placing a pacemaker because I had heart block as a result of past surgeries. I had to have 2 diaphragm placations because during my first heart surgery they paralyzed my diaphragm and I could not breathe on my own until they surgically corrected it. I had an inguinali herniai repair, a feeding tube put in, as well as several ear tube placements. I spent a lot of time in and out of the hospital because I suffered from pulmonaryi hypertension but fortunately with medicine I was able to relieve it. I also have a sub-mucous cleft palatei, a bifidi uvulai and a paralyzed left vocal cord.
When I was three, my mom, sister and grandmother went to Virginia to attend a feeding clinic for two weeks. Up until that point I have always been tube fed, I would gag and throw up at the sight of food. The feeding clinic helped get me past the gagging and throwing up phase and a year later I was eating on my own. I got the feeding tube out a little over a year ago but I still only eat food that is pureed. I am working on the chewing aspect of food. Although I don’t chew any food I do chew on everything elsebooks, plastic, toys, chairs, clothes, entertainment centers, practically anything that I can get my hands on. I have a Nuk that we call my chewy that I hang from my belt to give me something to chew on.
It has always taken me a long time to learn new things. I didn’t walk until I was 28 months old. I am still non-verbal but I use a limited amount of signs and a lot of pictures to communicate with my family.
I have 14 cousins that live in Michigan and 4 of them I see at least once a week. I love playing with them and they love to try and teach me new things or help me with dinner. We all joined a bowling league on Monday nights and we have a lot of fun. I am attending kindergarten this year in a cognitively impaired classroom and my teacher says that I am doing great and tells my mom and dad that I love school. I love watching Dora the Explorer, Diego, Sesame Street and Wheel of Fortune. I also like playing on the computer and I have just recently figured out how to use the mouse and the remote. I also love looking at magazines and books, going to the park, especially the swings and the zoo.
When I was a year old my mom took me to the geneticist to find out if there was something else going on with me besides having the heart defects and the delays. They did a DNA test and it came back normal. I was supposed to go back in six months but that turned out to be 4 years. I went back this April because my family knew there had to be something else. This time when the doctor walked in and looked at me she immediately said I think he has Kabuki Syndrome. We had no idea what she was talking about. They did another DNA test to rule out other syndromes and said they would call me to make an appointment for an official diagnose. We got the call a few weeks later and had our appointment where the geneticist confirmed that I had Kabuki Syndrome. My family wasn’t surprised. After the first appointment my mom and dad as well as extended family did research on Kabuki Syndrome and were amazed at how much it sounded like me. They were all relieved to finally have a diagnosis and to know that there are other families out there that are going through, or have gone through, the same things our family is. We are all very happy to be part of this group and look forward to all the advice and stories that everyone has.