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.


onceapickle said...

Kajsa, you and Troy are amazing. You really are an inspiration to me! Brady is blessed to have you as parents and I know the two of you love him more than anything in this world. What a great family you are. =)

Hope you're all doing well, hope you have a great weekend.

p.s.- I'm so glad to be blogging again too, it's so fun (and addicting)! Love to get updates on everyone...what a great way to keep in touch. Keep those posts coming.

Jane said...

Troy & Kajsa, you are amazing. I pray you have more up than down days, and Brady is so blessed that he has you both as such patient/diligent parents.

That was a very clear, thorough explanation, I feel like I get it a little bit better now.

We love & miss you all!