Thursday, January 31, 2008

Soooooo Not Going

No amount of cuteness on the part of these two is going to convince me to buy tickets.
Poor Troy - this is the second time the Patriots will play in the Superbowl in the city in which we live and this is the second time that Troy will not be in attendance! In 2004 (you remember nipplegate right?) he and a friend devised a plan to troll around Reliant Stadium thinking that surely someone would be forced to leave the game in the third quarter due to some emergency or illness. And this someone would just give them his tickets because, hey, someone should enjoy them. Hmmmm... it didn't quite work out.

The events coordinator at the company I work for forwarded this email she received from a ticket broker...

I especially love the part about the price coming down to $2,900. Sheesh... what was the price before? I guess it might be worth it if the potential wardrobe malfunction involved someone other than Tom Petty ;-)

Tuesday, January 29, 2008

On the Blogging Bandwagon Part II

It's true. I cook, I clean, I change diapers, and now I blog. Now that I got that off my chest I need a break. Sorry no pictures...haven't learned that one yet. (It's a marathon not a sprint.)
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

Monosomy 1p36

Lately several friends have asked me whether or not Brady has an official diagnosis. I realized that while many of our friends know all about Brady’s issues and our family’s struggles over the past two and a half years, I haven’t done a very good job of informing people about what we learned from our 6+ months of genetic testing in 2006. I received a phone call in October 2006 during which our genetic counselor stated that Brady has “an interstitial deletion on the short arm of chromosome 1 and the breakpoints are 1p36.22-1p36.31.”

K. What?

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


We had a fabulous Christmas which included a two week trip to Salt Lake City and my first two week vacation in... um... ever? Our digital camera is in the shop for six weeks (unbelievable) so we dragged the ol' Canon Rebel film camera with us and then ruined all of our film in airport security. No bloggie pictures for you, Grandma. Sorry. I will post more about our holiday fun later because all I can think about this week is a sick toddler.

I have a huge issue with blog procrastination and this camera issue is not helping. I have to wait until I have taken 24 pictures, drop off film and pick up a disc in order to upload any current pictures. Fortunately (or should I say UNfortunately), I do have a picture from a few months ago that can stand in to represent what has been going on at our house the last few days.

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:

  1. Sleep for one hour
  2. Scream for ten minutes or until Mom/Dad has rocked me sufficiently
  3. If feeling nice, take three sips of juice
  4. If medicine is administered, scream for an additional ten minute interval
  5. 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
  6. Officially pass out as long as someone is sleeping under or next to me and the humidifier is blowing directly in my face
  7. Repeat

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?