My Kabuki Syndrome Journal

Even though Kabuki has it’s up and downs, I never want to get rid of it. It’s my life and I love it.

All of my life, my Mom and Dad have known that there was something different about me. But until I was about age 11, they did not know what it might be. We finally went to UCLA Medical Center in Los Angeles California where the doctors did some tests and diagnosed me with Kabuki Syndrome.

WeinlandBefore this, my doctors weren’t sure about the diagnosis. They thought it might be things called Pradder Willeys Syndrome, Downs Syndrome, Bardet Biedel Syndrome, or some others that I can’t even remember how to say them. Never mind what they actually were. Even the most famous geneticists in New Mexico, doctors Acee and Claracusio couldn’t figure it out. They were hoping it was a new thing that they could name after themselves!

Kabuki syndrome is very hard to diagnose because it masks itself like so many other syndromes. But almost all the Kabuki patients have the most beautiful almond shaped eyes and they also still have the fetal pads on the tips of their fingers. Most of us have very weak ligaments and joints, which I know for a fact leads to lots of pain. Usually, the hips and or knee caps pop out of place and are dislocated. Then we have to go to the hospital and get them put back in place and be in a wheel chair until it get healed. Then it happens again two moths later.

Finally, I got some surgery at the Carrey Tingley Hospital Doctor Sherman who wore the coolest bow ties and always had lollipops in his pocket. He stapled the bones under my knee caps to make them grow the right way. Then he took out the staples and my knees have done just fine ever since. Thank heavens that was the end of that struggle.

Now I can walk pretty normally but I have to go slowly and carefully still. I am now in the Special Olympics track team running/walking the 50 meter and 100 meter race. I also walked in the YMCA 5 k fun run and the Suicide prevention service 2 k fund raiser. Those were hard, but I had a record time of 50 minutes had 7 seconds in the 5 k race.

I have had to have Gammaglobulin once a month since I was thirteen because the doctors found out through blood tests that I had something called ITPi. It means my spleen eats up my plateletsi and treats them like they are the bad germs. This is scary because if I got a bad cut I could bleed to death. At first I got stuck with I.V. needles every week to check my blood and give the gammaglobulin. After they realized it was going to be on going, they surgically put a prota-cath under my skin by my collar bone. This made it a whole lot easier to get my treatments and do blood tests.

After three long years with ITP and getting treatments very month or more, University of New Mexico doctor McKinnel suggested that we go to the Seattle Children’s Hospital. They put me on a whole lot of Prednizone and it worked. Three months , later my ITP was gone and hasn’t come back!

I still have to get gammaglobulin once a month because I also have a condition called CVID. That means “Common Variable Immune Defisciency” and that I could die from severe infections. So we are very careful about exposure to germs. So far we don’t know about a cure for this. But I hope we find one so I won’t be stuck with this for the rest of my life.

I am pretty lucky though because other Kabuki kids have it worse than I do. Some kabuki kids have severe facial deformities like cleft palette, which I am lucky to only have a minor bit. Lots of us are missing front incisor teeth. It’s made it very hard to chew foods - especially meat. But since I’ve had braces, I’ve discovered the joys of filet mignon, and lobster and crab and prime rib. So that makes me an expensive date!   I also am getting two tooth implants soon, so I will have some incisorsi after all. They are getting put in by computer guided robot surgery!

Even though I have Kabuki, I have goals and dreams just like everyone else. One of my biggest dreams is to sing on Broadway but I can’t really dance very well. Or I also would like to be an actress on the big screen in the movies. My fall back plan is to be a teacher or maybe do research science. Maybe I’ll get the chance to study Kabuki and help others just like me.

I know about Human Genome Project and I think I might like to help out in this area because it holds a lot the keys to what Kabuki is and why it happens. I also know that some of our scientists right here in Los Alamos contributed greatly to the Human Genome Project and I think I might be able to help out in this area because it holds a lot the keys to what Kabuki is and why it happens. Dr. Devon is the father of one of my classmates from high school and I hope to interview him someday to learn more about genetics. There are a lot of questions that need answering about Kabuki and I hope I can help.