Sunday, February 27, 2011

Good genes, bad genes

Whoa ... bad blogger alert! So sorry for not posting this sooner.

Will a few cute pictures of Ethan make up for his mama's slackness?

Whew. Glad I could redeem myself.

As I mentioned in my last post, I recently talked to our genetic counselor regarding some test results. (I'm glad y'all enjoyed that video, by the way!)

Back in November, when Ethan was inpatient at Duke following a surgery, a blood sample was taken to test for a second genetic disorder. This is the post I wrote back in October, explaining the results of the first round of testing and the reasoning for further investigation. Definitely re-read that post if this isn't making sense to you. (The disclaimer still applies!)

The short of the story is that this second test has come back negative (read: no SALL4 mutation).

This is good news. Sort of.

The long version is that Ethan has now tested negative for TBX5 and SALL4 mutations, but we know something is going on in that body of his. With negative results from both tests, there's no way for anyone to test Jeramie or myself for anything; they wouldn't have any idea where to look! And, other than TBX5 and SALL4, there's really nothing else they can look for in Ethan.

However, continuing with the long story, our genetic counselor told me there is another test that can be performed to check for a TBX5 mutation. The lab who did the original TBX5 testing is not capable of performing this second test (hence, why it wasn't done in the first place), but the lab who tested for the SALL4 mutation is.

Still with me?

So, genetic counselor calls Lab #2 who, I imagine, checks in the fridge beside the bottle of Gatorade, and determines that they still have enough of Ethan's blood to run this test, and agree to do so.

This whole thing just seems so crazy to me. I mean, my child's blood is just hanging out in a lab somewhere in Maryland, and these super smart geneticists can lay the super-smart-smackdown on a sample of it, then tell us what is or isn't wrong with it.

It really blows my mind if I think about it for too long.

So now, in about five weeks, we should have the results of this second round of TBX5 testing. Once these results come back, we will have done everything genetically possible, at this time, to figure out what's going on with our sweet boy.

If negative, Jeramie and I will move forward with knowing we have a 1-4% chance of passing whatever-this-is along to a second baby. If positive, we will undergo genetic testing of our own to see if that chance is any higher.

Pray for us. I feel like the thought of adding another child to your family can be stressful, just based on principle. Add on the fact that we could be passing along some potentially life-threatening genetic disorder, and it's enough to make you crazy.

We would love some answers. But, then again, if we knew all the answers how often would God find us coming to Him, just trusting that His ways are better, His timing is perfect, and His knowledge is more than we can fathom?


Jen said...

Will for sure be praying for the genetics testing and your decision on baby #2. :) It is definitely a stressful thing to have to think about. But your last paragraph was so right on! We are not in charge of those things, and it is so wonderful to be able to "let them go," even though it is hard to do sometimes.

Sending prayers!

Shannon Venditelli said...

Still thinking of (and praying for) you often. I miss seeing your smiling face at Combs but am thrilled knowing that you get to be with Ethan. We know that "all things work together for good" and that includes the next child that you are contemplating.

Much Love to you & your family ♥

Mandy said...

Thanks for sharing Joye. Understand some of your thoughts more than you know. :) Will be praying for you guys! Yes and I all that genetic stuff blows my mind too.

Stefenie said...

{{{HUG}}} I am saying so many prayers for you guys Joye. You and Jeramie are such wonderful parents to Ethan and I know how very blessed a second child will be to have you as his/her parents. It is so hard not knowing what the answers are and how to proceed without any.

Sending you warm thoughts and of course my prayers as you await the results of the new test.

Dana E. said...

It seems you understand the genetics enough to explain it correctly, without throwing in the big genetics terminology. I have trained you well, Grasshopper. :)

All kidding aside, I am happy to hear these results, but I also know it just raises more questions. But know that all these "negative" answers are giving you a much higher likelihood that this is truly a de novo case and very rare for #2 baby to have this same thing.

Thanks for sharing the results! Happy to be living life with you girl!

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