Thursday, January 31, 2008
Tuesday, January 29, 2008
For the record Kajsa wrote the title and she should know better than to say I'm on anyones bandwagon...especially during this time of year...GO PATRIOTS.
Friday, January 25, 2008
Unfortunately our counselor was unable to provide any additional information and our geneticist had taken a leave of absence. Further complicating things was the fact that we had just moved out of state and had to start over with a new geneticist. We still don’t have a lot of answers but I will share what I have learned from my very official research utilizing our various doctors, Google and Wikipedia.
Each human cell has 2 sets of 23 chromosomes (one set from each parent). The chromosomes contain DNA and all sorts of information that make up each and every cell in the human body. While Brady is only missing a tiny piece of one of his chromosomes, this deletion affects every cell in his body and, subsequently, the way in which his body developed.
The technology used to diagnose deletions such as Brady’s has only existed for a few years so, as far as we know, there is no one else is missing the exact same material in the exact same place on chromosome #1. However, a syndrome called Monosomy 1p36 (or 1p36 deletion syndrome) involves a fair amount of the same information that Brady is missing. Picture a row of books containing exactly 20 books. Let’s say the people with Monosomy 1p36 are typically missing books 17 through 20 while Brady is missing books 16 through 19. This is why several geneticists we have contacted tell us that Brady does not have this syndrome and other geneticists tell us that he does. Confusing? I think so.
Regardless, Brady shares most of the same traits and issues as other children with 1p36 syndrome. Wikipedia has the most concise and easy to understand description of this syndrome, in my opinion. It was written by the father of a little girl with the syndrome. We were lucky enough to meet Nate and his family over Christmas as they live in our home state of Utah. Nate and his wife Melanie have taken it upon themselves to blog about their experiences with 1p36 syndrome. This blog (along with a couple of other websites created by other 1p36 families) has helped me understand many of Brady’s issues and has provided me with valuable advice in regards to different treatments. These parents know more than any doctor I have encountered and I don't know what I would have done without all of the information they have put on the internet. Nate & Melanie’s daughter is a year and a half older than Brady and I cannot begin to describe how uplifting it is to read about her progress and witness all of her many accomplishments.
So to keep things simple we are now telling people that Brady has 1p36 syndrome. For more information on this syndrome, you can read the Wikipedia entry here. My hope in writing this post is that someone like me, scared and confused after receiving a call from their doctor, may find this blog when they type “1p36” into Google. If so, please feel free to email me and I will try to answer your questions and offer you the same support that so many people in our new 1p36 family have offered me.
Monday, January 14, 2008
I am happy to report that Brady is recovering quickly and will officially resume his therapy schedule today. He had almost an entire month without therapy appointments due to the holidays and the fact that he was sick all of last week. His therapists were so disappointed that they didn't get to see him as planned. We are very fortunate to have so many talented, hard-working therapists who truly care about Brady. They have all played a big part in getting him to where he is today.
This is my mom's favorite picture of Brady which she has framed and reportedly showed to all of her friends. She says "he looks like he is flying because he is so excited to be able to walk."
Brady was too weak to walk or crawl while he is sick so I am seeing his joy all over again at cruising around the house. You go, Buddy!
Wednesday, January 09, 2008
Our little guy is so sick! The doctor said his ears look fine and it must be RSV so there is nothing we can do but alternate Tylenol and Motrin for his fever. Brady's to-do list over the last 48 hours looks something like this:
- Sleep for one hour
- Scream for ten minutes or until Mom/Dad has rocked me sufficiently
- If feeling nice, take three sips of juice
- If medicine is administered, scream for an additional ten minute interval
- Then, if Mom is rocking me, pass out. If Dad is rocking me, pass out unless I see, hear or think about Mom in which case, commence additional screaming interval
- Officially pass out as long as someone is sleeping under or next to me and the humidifier is blowing directly in my face
Troy has been such a trooper considering he doesn't get to escape to the office for 8 to 10 hours each day. He has been insisting that I sleep most of the night while he takes care of Brady since he is co-napping most of the day. We can't figure out what exactly is going on with the Bubbies other than the fact that he is severely congested and doesn't yet know how to blow his nose. He absolutely panics every time he wakes and but will calm down eventually since the screaming seems to dislodge a shocking quantity of mucous.
This is not a very interesting post but when the Bubbies ain't happy, nobody's happy! I am really wondering how how people pull this off with more than one child. Any suggestions from my numerous (two) readers?