Jan 27, 2016

A Genetic Lab run by Oprah

Oh hai.
Tuesday morning I had my intake phone call with the genetics lab to go over the required steps for PGD testing.

My motto going into all of this is, Move forward with an open mind.

But man, was I a fool to think it would all fall into place right away.
There is SO. MUCH. SET-UP.

So, we have been paired with Reprogenetics in New Jersey who is the company that will set-up our probe to have our embryos tested for not only our matched mutation (MCAD) but the overall chromosonal composition as well.
I think. There is a local lab as well so I'm not sure how all these works together.

I'm going through all the standard questions with a lady named Dina; we discuss family history, any pregnancies, confirm contact information, etc.

And then she throws me a curve ball.

Both sets of parents are required to go in for carrier testing as well.
If they don't, no one moves forward with anything.


Trying to explain the in's and out's of genetic testing to our parents is the equivalent of trying to fix their computer over the phone...."WHAT DO YOU SEE ON THE SCREEN? What color is it?
NO DON'T DELETE IT. It's on the HOME SCREEN. The screen you're looking at! Click the square icon in the corner. The BOTTOM corner. Now WHAT DO YOU SEE?!"


I called Mark knowing exactly what his reaction would be.
I tell him what he needs to tell his parents and he needs to do it yesterday.


Because to get the results of carrier screening it can take up to three weeks.
They have to order the tests first, run insurance, schedule the friggin' appointments and all head in, hopefully within days of each other.

Then we wait.

After we get the results sent to the genetic lab, Mark and I have to go in for more blood samples to send the lab more DNA for testing and set-up.
AND....both sets of parents will be mailed a another saliva test where they will swab their cheeks and mail their DNA to the lab as well.


And then....AND THEN!! We wait again.

After they get all the results, it takes roughly six weeks to complete our probe.

Then we can start IVF.

Holy. Shit. Dudes.

The only saving grace to the longevity of all this waiting is we had not planned to complete any transfers until July, so really, how and when everything else is completed is irrelevant.

It just all needs to be checked off by July to make me happy.

The birth control cycle, all stims administered, eggs retrieved, fertilized and biopsied, cells tested, results waited on....the whole shebang...by July.

That's all I'm asking.
Oh, and of course, all good reports along the way.

I then realized I just need to coordinate everything.
Type A at your service.
I call my dad.
If anyone, out of the four parents understands insurance, it's my dad.
I apologize profusely and unload my spiel.
He jumps into action, having me spell out everything.
We go through what he needs to call about, order, schedule, etc...and of course keep me in the loop.

I also called Mark's parents and talked them through everything.
Again with the apologizing and details.
I just knew there would be confusion, so hopefully I can get something scheduled for everyone at the same location.

For good measure, I also emailed our RE to see if he had any recommendations about this.
It seems weird for our parents to be going to a fertility specialist, but at this point...I will go with whatever is less of a hassle and is the quickest.

Super fun update: it's super weird for the RE as well to have parents of the couple trying to conceive come in and get their genetics handled as well. So that option is out.

Edited to say: After MUCH back and forth between the Counsyl reps, our physician, my dad, and the RE....I determined the least stressful route is to order at-home cheek swab kits mailed directly to both parents home. They can swab in privacy, then mail that 'ish back to Counsyl.

Two weeks later, we have our results.
Bada-boom, bada-bing!

Let the chaos continue and thanks for reading!!


  1. Sheesh, I'm glad by the end it was simplified for the parents. I've never heard of the potential grandparents having to get tested . . . that is seriously covering all the bases. I guess they just go without if one of the parents is deceased?

    Girl, I'm praying for you. This is a lot to handle. But seriously, you seem to be on top of it all and that's amazing! I'm sure these posts will be a tremendous help to others who have to deal with this. And your dad sounds awesome.

  2. I am laughing at your description of trying to fix your parents computer over the phone. SO TRUE.

    And wow, they are covering ALL bases here. I'm so glad you seem to have everyones upmost support and that they all are....right here. That's huge for the support and the 'ease' of it all. And by ease I still mean this is A LOT.

  3. The computer fixing thing? I had to walk away from my desk because I was laughing so much because it so true.

    Sounds like you are right on top of things. Just keep swimming!

  4. Wow Tia... that is a lot for sure. I am so happy that you are still able to drink throughout this process right? Lol... because clearly that's going to be a necesity!

  5. I am so glad that I found your blog. My husband and I recently found out we are both carriers of cystic fibrosis. Your blog is the only one I can find talking about IVF with pgd. Thank you for sharing!

  6. Wow. I honestly would never have thought of having to test your parents as well! You guys have so much on your plate... hope you're able to relax a little!

  7. Well, they say it takes a village! They want this for you and they will do whatever they can, just like you!! And really. So much DNA is right.

  8. How strange! What if someone's parents had passed on or they were adopted or just good old fashion estranged from their parents? My mind is reeling. Glad you got it all worked out.

  9. whew! glad it is going to work out with all of that. i had no idea the science and the behind-the-scenes of this!!

  10. Wow... What a crazy hassle. Good for you! When things seem complicated (like changing my last name after the wedding or filing taxes) I just put it all off for a long time... I didn't change my name for 5 months following the wedding, just because I was lazy. I'm glad this is all working out for you!! I know your motivation is really special! (For the record, I followed you here from Bourbon Lipstick & Stilettos. I can't wait to read more from you!)