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.

 

Coming to a 10 Fitness near you

is a big ole flier (flyer?) of Andrew! I tried to upload it here, but when my computer crashed last month, I lost my Microsoft Office pack. I had to download some Abi program and I made the flier there and it won't translate to blogger. One day I'll buy some printer ink, print it out, then scan it over here. Process, I know. But if you are in central Arkansas, go to a 10 Fitness and check it out! And join the gym - 10 Fitness is kickA, it really is. Mister's uncle, Jacob, owns a bunch of them and he's pretty kickA, too. Plus his wife's name is Babsi. BABSI! How cool is that? Little has an Aunt Babsi! I bet you don't have an Aunt Babsi.

Now onto the Little's League shirts. Thanks again for that team name suggestion, Crystal - it couldn't be more perfect. MDA Lady loves it, PT H (now referred to as PT Heady since that's how Little pronounces her name - and while we're on the subject, OT J will now be referred to as OT G4. Yup, G4. That's how Andrew says her name. "Ok pway with G4!" G2 when she's upsetting him, G4 when she brings her big bag of toe-eeze {toys}) about cried when I told her, and my mom squealed. Mister gave it a "NICE." which is about as excited as he ever gets. So, well done, sis!

The t-shirts were ordered yesterday!!!! I'm waiting on the art department to send me a proof to finalize, then I will receive them about 10 days later. Great turn around time. I had a stroke in my left eye when I saw the total cost of production. I panicked for a few hours before I clicked the "complete purchase" button. I finally went and counted all the payments I've already received for the shirts and realized that I could take them to the bank before I checked out and then it wouldn't be as scary. So thank you to everyone who has already paid - you made it possible for me to pay the entire balance of the shirts without losing complete function of my bladder.

See, our goal (our, meaning mine and my mom's) was to sell 50 shirts then do a second batch if there was enough interest. Well.........our first order was for 139 shirts.
.



*legally obligated to plug the website I made the blinking 139 at, so here goes*
Image by Cool Text: Logo and Button Generator - Create Your Own Logo

That's almost three times as many as our goal!!!!  I am so thrilled!  Thank you all so so so much!!! More exclamation points!!!!!!!!!!  Ya'll are helping to make Andrew's life a little easier than it would be otherwise.  Thanks to you and the MDA office in Little Rock, we already have enough to be able to go meet with Dr. Mendell at Nationwide Children's Hospital in Columbus, OH.  We were supposed to go yesterday, but had to reschedule bc we just didn't have the money.  Now we do.  It's sitting in Andrew's brand spankin' earmarked for Duchenne expenses medical account.  What a relief!  Dr Mendell is a specialist who runs clinical trials for Duchenne treatments.  He's got one going right now based on exon skipping - really fascinating stuff and so promising - and one in the future that may help Andrew.  We are supposed to meet with him and let him poke and prod my tiny boy and have him screened into the lab's database.  That's just one example of how your donations will be used to help Andrew now and in the future.  I really can't thank you all enough.

And I've already been asked to take a second order by some folks who were a bit late to the party and so that the people involved in that really cool thing that's happening later in March (that I mentioned in Nov that was supposed to happen in Jan but has now been moved to March ) could order one if they want.  So if you missed the boat, don't worry, I'll take orders again soon.


My little brownie lover. :)

Little Rock MDA Muscle Walk 2012

Time for the MDA


On Saturday, March 10, the Little Rock MDA office will be holding their annual Muscle Walk.  This year I've decided to form a team on Andrew's behalf and try to raise some research money.  It begins at 10:00 a.m. in Murray Park off Rebsamen Rd.  I've got his team all registered, now I just need some members - (you). :)

It is free to join the team - there are no entry fees or registration fees or even a minimum donation.
What you do is click on this link -

http://walk.mda.org/find-a-walk

Then click on Little Rock, Arkansas and it will take you to our event.  I can't link to it directly bc it won't let me log out and then you all would be on the site logged in as me.  So once you are at the LR MDA Muscle Walk page, click on the link that says "Join existing team" on the right hand side of the page.  I believe it is the 2nd one in the list.  The next page it will open up will be the registration page.  When it asks you which team you want to join, pick Little's League (thank you for the kickA team name, Crystal!).  Follow the registration instructions as they pertain to you, obvi, then you will be asked to categorize yourself as a 5k Runner, Muscle Walker, or a Spirit Walker.

5K Runner - don't pick this one, the 5k has been cut from our event so that no one is excluded.  There are so many people who are no longer able to compete in atheltic events that the event coordinators have opted not to have any at all.

Muscle Walker - pick this one if you are going to attend the event with us.  This is the category that I registered in.  This is the category that gets you Andrew's t-shirt for $10 instead of $12 (plug plug plug) since we'll be wearing them to the Muscle Walk.

Spirit Walker - pick this one if you want to help us raise funds and awareness or just donate some yourself but will not be physically attending the event.  You can still help us out by sharing our page link, e-mailing friends and family, and trying to gather donations.

Then just finish out the last few clicks and pat yourself on the back - you just joined Little's League!  You can direct people to our fundraising page by sharing this link Little's League Fundraising Page or you can direct people here to this blog.

The event is like a festival.  There will be food, games, vendors, a DJ, and entertainment.  At the very end, we all do a victory lap around the park that symbolizes all of the funds we've raised by working together.

I would love to raise as much money as possible for MDA, but even if we don't raise a dime, at least we will have raised awareness.  Most people have never even heard the word Duchenne.  I sure hadn't until June of last year when it was first mentioned as a possible diagnosis for Andrew.  If people don't know this disease exists, then how will it ever be cured?  So even if you can't help the Duchenne community out financially, help us out by spreading the word!  Direct people here - to my facebook - or to MDA and PPMD websites.  Just get the word Duchenne into people's ears so that one day enough people will be aware of it to really get research funded.

I hope you'll join Little's League and help us end Duchenne!  AHEM, friends and family that I never get to see - you know I'll be in town and where I'll be, so it would be a great excuse for you to hop on over to Murray Park.  You can catch up with me and Little and support us at the same time!!!!



Here's another link and way to contribute!
Katherine's MDA Muscle Walk page