Little's Life

Little's Life

Tuesday, January 31, 2012

I am......

not a carrier.  Little's geneticist's office called today and said my DMD test came in and is negative.  So I do not have the defective dystrophin gene.  Andrew has what they call a random mutation in his genes that caused him to have Duchenne.  It's rare, but it does happen.  Something like 33% of DMD boys are born to non-carrier moms.  I'm stunned, honestly.  I fully expected the nurse to tell me that they found the deletion on one of my exons.  It would explain a few things in my family history.  So ......huh?  If I was a carrier, then I'd have a 50% chance of passing it along to any sons I had.  Since I'm not, the odds drop significantly.  Nurse told me that since my body has produced at least 1 egg that we know of (Little) that produced Duchenne in my son, that I have about a 15% chance of it happening again to any other son I may conceive.  She suggested prenatal testing, I suggested not having anymore babies, lol.  I'm almost 32.  No thank you.  I am not past the idea of adopting a toddler one day out of foster care if I decide I can't live with just 1 child, but no more babies.

I'm editing this to correct some misinformation the nurse gave me.  Turns out, it doesn't give me about a 15% shot of creating another boy with DMD, it gives me AT LEAST that much chance.  When you are not a genetic carrier of Duchenne, you are still a "germiline carrier" as in you produce eggs with it.  A friend on facebook explained it like this:
 Katherine - they have no way of knowing what the risk of having another child with duchenne is. If you're a germline carrier, which all of us who aren't DNA carriers are (meaning it's in our eggs) the question is just how many eggs. If the mutation happened early on in your egg development when you were a fetus, then a larger percentage will be affected. If it happened later during egg development, fewer are affected. I am a germline carrier ironically with 15% of my eggs affected - the only way to tell is via IVF with PGD. I think it's irresponsible of nurses/doctors/geneticists to quote risk percentages that they have no way of being accurate with. If you ever want to know about the PGD process, I'm happy to talk with you about it.
So I think it's ridiculous not to consider us carriers - because we still carry it!  But the distinction is whether we carry it in our DNA or in some of our eggs.   Aaaaaaaand back to the original post now.

So.........there's just more light shone on the thinking that God has a plan for this.  God needs Little to have this disease for whatever reason.  He needs me to have this child.  It's humbling and complimentary all at once.  I don't know what you have in store for us, or what You need us to carry out, Lord, but I pray that I do what You need.  I pray that we allow ourselves to be guided in the way You see fit. I pray that we can bring other to You through our actions and our faith.



  1. I didn't even go through anything near as traumatic as you, and I'm like "no babies." Adopting a toddler from foster care is a WONDERFUL idea. Says the former Child Welfare Specialist who had several beautiful toddlers on her case load in need of a loving and warm "forever" family.

  2. :) I think I'll know if another child is meant to stay with us when it happens. Mister and I are both very open to God's suggestions, if that makes sense. We both are pretty intuitive when it comes to "Oh, this is *supposed* to be happening right now" stuff. But babies - let's just say I'm pretty self aware and I KNOW that I am not my best with infants. I do not have the patience, the ability to function without sleep, or the mother's blindness to spit up to EVER have another baby. But the older Little gets, the more joy I find in him - and he's 2! This is supposed to be the "terrible" stage but I am loving it.