Not too much has been going on with Kai lately. Right now we have decided to go to physical therapy just once a month, due to cost and there isn't much they can do right now that can't be done at home. The key is actually doing it! I hate causing my sweet boy pain. We finally got Kai a much needed mattress. This seems to have helped his back pain.
I guess I didn't make much sense when I told Jeremy what Dr. Medne said. Because he called and spoke with her last week. She said that they are especially interested in Kai's case because his mutation occurred on a different gene than they have seen before. On top of this his presentation is much different than the other cases. So we will see what happens. Our trip to Philly in January should prove to be very interesting.

Biopsy Results

Last week I finally received a call from Dr. Medne at Children's Hospital in Philadelphia. She had the results from Kai's skin biopsy that was taken a year ago. Unfortunately we are right back where we started three years ago. The test results came back normal. She told me that they have about twenty kids like Kai, who clinically present with either Ullrichs or Bethlem yet their biopsies come back normal. They think where there are so many that there may be a third gene that mutates instead of just two as they originally thought. I am still confused as to what this means so thank goodness we have appointment scheduled with Dr. Bonnemann in January. So we will just continue to take it one day at a time. Until next time.

Long Awaited Update!!

Once again it has been way too long since I last posted. Kai has been a busy little boy! He has had some sort of appointment every week. Two weeks ago Kelly, his therapist, told me he thinks Kai's hip pain is from his soaz muscle tightening. This muscle is responsible for lifting the leg. The problem is it is very hard to get to. So when he is resting we are supposed to have him lay on his stomach propped up on a pillow. Hopefully by doing this we can slow things down a little.
Last Thursday we took Kai to see Dr. Pfeffer the pulmonologist. She thinks he may need his adenoids removed. She scheduled him for his yearly sleep study, which was last night. Unlike last time he did awesome!! In fact when he came home this morning he wouldn't let me take the sticky pads off. He thought they were cool! I had to do some bribery with the Wii. Those of you who know Kai know that he will do just about anything for a video game. lol.
School is still going well for Kai. He does seem to get frustrated when it comes time to color. He just doesn't have the strength in his hands to do it as well as his friends. So I think we are going to have to look into some occupational therapy.
I think this is about it for now...until next time.

I can't believe it has already been three weeks since my last post. Obviously a lot of things have happened, some good, some not so good. I will start with the good stuff first. Kai started preschool on the 18th and loves it. I think for the first time in awhile he feels normal. I think that has been the hardest thing for me is seeing him realize that he is different. He also was able to start physical therapy again. Unfortunately his hamstrings have tightened and he has lost some range of motion. This is really what we want to avoid in order to keep him out of a wheelchair as long as possible.
Today Ainsley was talking about Kai dying. It stinks having a daughter who is so smart and in tune with her parents feelings. I never know how to respond because I don't want to scare her or blow her off. I'm sure that when people look at him they think he will be just fine. However, this is not the case. He will not live to be an old man and it breaks my heart. Well enough depressing stuff for today. Until next time.

A Great Day!

I apologize to everyone for taking so long to update the blog. It seems we are still recovering from Saturday. Everything turned out really well. It seemed that those who attended enjoyed themselves. The person who seemed to have the most fun was Kai, which is how it should be. Every time I saw him he had a different flavor of snow cone. Granted most of them ended up down the front of his shirt. lol
I will be posting pictures from the event later. Thanks again for every one's love, help, and concern. We couldn't make it through without you.

A little more about Kai Kai

Back in the first post I told everyone a little bit about our family and Kai's disease. Since then the posts have focused on the fundraiser. I would like to take a step back and focus a little more Kai Kai and his needs. Kai is a very sensitive, kind, and loving little boy. He is so quick to forgive those who have hurt him physically or emotionally. Even still I have had a hard time giving him the care he needs to maintain a good quality of life. This care includes physical therapy, wearing of braces, doctors visits and daily stretching (by me) in order to prevent contractures. For the last year and a half I have been living in denial. My thoughts have been that if I just ignored the fact he is sick maybe it will magically go away or at least not get any worse. After seeing him suffer over the past few months with a great deal of pain, we have decided that living in denial is causing more harm than good. So we are taking the steps necessary to help Kai Kai maintain his quality of life. Right now he is still walking but tires very easily and if he over does it he has a lot of pain. Hopefully by getting him new braces and getting him back in physical therapy we can help him at least overcome some of the pain. We also need to take him to see Dr. Carsten Bonneman in Philadelphia, who specializes in collagen VI disorders.
One last thing, we have been completely overwhelmed by the amount of concern and love that has been shown to our family at this time. THANK YOU ALL SO MUCH. We hope to see everyone this Saturday!!