Today is Rare Disease Day. This day is for bringing attention to 7000 known Rare Diseases. There are treatments for only 400 of these 7000 Rare Diseases. 1 in 10 people are affected by Rare Disease 50% of them are children 30% will not live past age 5. Rare Disease is NOT really that "Rare".
It was interesting to see what some of the people around the world were doing today to help spread awareness. The idea is to wear "jeans for Genes" Jacob decided to use a dress down day so that he could wear jeans to school today. I made this shirt for him last night to go with them. What a great big brother spreading awareness for his little brother and sister!
Annalise and Bryce spent the day doing therapy. Between the two of them, 5 hours today! Then this evening I attended a get together for the Parent's Advisory Committee for TGen's Center for Rare Childhood Disorders with Les and Denise Hauer. They fed us and then discussed some upcoming plans for the center and some of the amazing work they are currently doing there. It was good to see some of the families we met last time and to meet some new ones. One of those families that we met was the Belnap family in the video below. Very nice family.
I was looking forward to seeing Dr. Narayanan and his wife there tonight, but found out through an email from him that he was sick and not able to make it. In his email though he did give me an update on where they are with the genome sequencing for Bryce and Annalise. I think at this point I may just be more confused than ever, but at least I know they are working on our DNA. Here is what Dr. N had to say,
"I will go through the gigantic spread sheet again, but I believe they have only done exome sequencing on Bryce and Annalise (not you and dad, yet). They have pinpointed the known SAMHD1 mutation, but not a second mutation. No other mutation in any of the other known genes associated with AGS.
To be done soon: RNA sequencing on the kids and dad (I will have to see if they are going to do you as well).
I think Szabi was planning on running exome sequencing on both of you sometime soon as well, to look for novel genes.
The RNA sequencing will tell us if there is some problem with control of gene expression from the maternal allele. They can tell this by comparing RNA sequencing data between the two kids and dad.
I hope to chat with you soon, maybe we can meet one weekend after I have digested all the data."
So there you have it! You know as much as I do! :) I have read and reread this email and through talking with Les and Denise on the way home it has begun to make a bit of sense to me. Sounds like they found the mutation we knew about, but are doing a little deeper dissecting to see if they can see what is really going on there. It is so hard to wait, but at least I know they are working on it. I'll keep you posted.
Thanks to all our friends who wore Jeans for Genes today!