What can I say. Life can get so hectic. It's been a while since I've posted So much has happened I don't know where to start. Part of my problem is that for Christmas we got a Nintendo Wii and I have been spending too much of my very little free time playing Harry Potter. I've beaten Voldemort but I don't know if I'll ever finish the game. There are different tasks you have to do in each section of the castle and I can't find them all. I need to check online to see if they have a walk thru. Also for Christmas we got an electric fire place and a HD DVD.
For my birthday I got a bicycle. Don't laugh. I have every intention of using it. For one it needs to get a whole lot warmer. For two, I need to get a child trailer so I can take Kyra and Brandon with me. Then we need to get James and Taylor one so we can ride together.
We went to Children's Hospital on 1/11 to have Kyra's genetic testing done. They used a little brush to "tickle" the sides of her mouth to get a skin sample. The results could take two to four weeks. We made a follow up appointment for 2/12 but they call and rescheduled it for 2/21. Great, I really want wait even longer. I'm so scared I can't think straight. The morning we went I woke up at 5 am and couldn't go back to sleep. I keep telling myself that she doesn't have it. I have to think positive. We did find out what the mutation is. Here, let me sound knowledgeable:
MEN 1 is a single base change of G to C in the +3 splice donor site of intron 7.
or,
IVS7+3 G>C
or,
c1049+3 G>C
HUH?
