Famous words from the Hunger Games and for us they just may be.
Today we met with two neurologists and a genetic counselor. Our results are back from our genome sequence. The lab found a mutation on gene Las1L. It is a gene that has had very little studying done. Mutations in it cause no known diseases. The lab seems quite positive that this is the gene that resulted in Pierce presentation. The neurologists aren't as quick to be as certain but are hopeful.
This gene is x linked. However I do not carry it. Which means I either had an egg that had a mutation somehow or Pierce mutated it during embryonic development. If this gene is the real cause of Mr P's issues we have less than a .01% of this happening again.
Here is the tricky part. With such things there is never 100% surety. The body is crazy and amazing and how if functions is far too much to understand. Scientist/doctors will think they have pinpointed something only to later find out it is much different than what they originally thought. That being said, they are going to try to do some research to see how mutations in this gene would effect humans. In doing so we will be able to find out just how probable this mutation is at being our problem. It is hard to just say "yep, never seen this mutation before, don't know how it works, but pretty sure it caused a whole mess of issues for you son." There is just no evidence. So, it is likely but not surely. Hopefully in the coming months we will get even more information as they start to study the biology of this gene and its function.
For now, this isn't much, but it is good. It is good to have some information. Hell, it's more than we've ever had before. haha. We've got time to make decisions about more kids. We aren't in a rush. Well who knows after today's talk about eggs and how they get "sticky" and have more mutations as you get older! EEK! HA Good thing I am only 27, I should be good right?
6 comments:
Love reading your blog. I am glad you finally got 'some' answers. Isn't is crazy the way life turns out--you prob know more about your eggs than you ever thought possible. I know way too much about the male anatomy after brad having testicular cancer. I have come to terms with the fact we won't be having more kids. Luckily, I was always okay with the thought of a small family. Who ever thought we would have to make these kinds of decisions under the certain circumstances--life is so unpredictable! Love you!
Ohhh I'm so glad you guys heard SOMETHING. and yes, my young friend, you still have time. Freak. I'm behind, if I only have one and will be 27 next year! Ekkk. But that will be interesting to hear more about what they find out about the gene... Love you guys. Need to get together eventually. Everyone is so busy!
Oh yay, I am glad that you finally have answers and hope too! Hopefully you will continue to get the answers you need. Hey, I am older than you and only have 1 child with me with hopefully more to come, so you should be good :)
I am so glad that it doesn't seem to be common for it to happen again. It is scary having a baby period BUT to put a potential genetic problem...I can't imagine the panic. Thinking of you...and YES, 27 is still SUPER young :) I turn 30 this year and realize that I am considered OLD now at church (also partly because my oldest is almost 10) :( Completely sucks!
You are so young!! Most people on the East coast haven't even started by the age 27!
I'm glad they are starting the get some answers for ya. And hopefully they will have some more answers and more certainty (if there is ever any clarity in the medical field).
YAY! I smiled so big when I read this. I am so happy that you are guys were able to get some anwsers. I will pray that you continue to get them and will be able to make the hard decisions that come your way!
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