Sunday, April 21, 2013

quite the pair

Ryan and I met on a cross cultural trip to England during our junior year of college.

We flirted over the summer a bit, but it wasn't until we ended up living across the hall from one another during our senior year that love began to blossom.

Three years later we got married....

Almost 5 years later, God has revealed to me in so many different ways why He brought us together.

A few weeks ago we decided to get some genetic testing done. Our Dr thought it might be good to test me for Fragile X Syndrome, so we decided to get a Counsyl test. Normally, they only test the woman, because both partners must be carriers in order to greatly increase the odds of passing a disorder to your child.

Just in case something was found on my test, I suggested Ryan get tested too and then we could bypass the 2 week wait for his results and get started on our next IVF treatment cycle. 

We felt assured that it would be a $100 test to give us some comfort in knowing nothing was wrong and we could continue with hope and trust that my supplements would boost my eggs and get us the healthy embryo we needed to transfer!

Counsyl tests for over 100 genetic diseases.

And guess what?

My perfect partner and I are a match for one -- Hereditary Thymine-Uraciluria.

The risk for us to be carriers are 1 in 40,000.

The risk for 2 people with this to be together is 1 in 10,000.

The risk for our children to have it are 1 in 4

It is hereditary, so we got the mutation from one of our parents. Because it's recessive, neither of use have any symptoms. We don't know anyone in our families who have symptoms, but because it is recessive I am not too surprised. The whole thing is overwhelming and a bit confusing!

I'm not going to go into details about what it is exactly {you can read here if you'd like}, but it is enough to make us question our next step. 

Being faced with the decision to stop fertility treatments and accept the fact that it might be best to stop trying to have our own child is the hardest decision I've ever had to make -- I'm sure Ryan would agree.

We meet with a pre-conception counselor and our Dr next week to talk more, although in my opinion there isn't really much to talk about. 

I truly hope they enlighten us to some kind of good, unexpected news.

So, that's where we are.

I would be lying if I said I wasn't a little heart broken and sad, however, I feel so strongly that God is working on something truly special for Ryan and I. I don't feel like I'd be able to embrace this low time for us without being able to see a light further down the tunnel and knowing {with confidence} that we will get there. 

I know there is a child out there for us to love. It might not have my blue eyes and Ryan's red hair, but it will have a heart that's young and parents who are anxious to share with them the love of Christ. The core of my heart is in His. I cannot lose faith now in His bigger plan. 

Will keep everyone updated when we make our final decision on what to do next - please pray specifically for discernment. Your prayers have kept us laughing and going forward all along...they are making a difference. Thank you :)!

My MIL sent me this bible verse this week;

Trust in the Lord with all your heart 
and lean not on your own understanding; 
in all your ways submit to him, 
and he will make your paths straight.
Proverbs 3:4-5 

We're trusting. It's not easy, but we're trying.


Meagan Y. said...

Thanks for sharing so openly. Your faith is encouraging. I'll be praying for you & Ryan in the weeks & months to come.

Janis Creason said...

Erin and Ryan, you are in our thoughts and prayers so often. It is a very special thing to share this journey with you through your writings and have the opportunity to pray with you. Your descriptive posts could in themselves save lives. I thought about how prevelant the use of 5-fluorouracil is in the treatment of cancers and how the knowledge about the potential for genetic toxicity exists. My mother had that drug as part of her chemotherapy cocktail. The idea of genetic testing to determine potential for lethal toxicity was never mentioned. This is a very interesting topic. My nephew and his wife share a unique genetic connection also....their daughter is biotin deficient, something we never knew existed in our family. God's grace truly is sufficient to carry you through this journey. He has a plan for you and He will carry it out in a way that blesses you for your faithfulness to Him. Do not grow faint; He will uphold you. We love you. Janis and Jim

Marci Kileen said...

Erin, thanks for sharing on your blog. I happened across it and wanted to share a couple of things. First, I was glad to see you took the Counsyl test - as a Dr. and a mother myself, I believe it is so important for every person thinking about getting pregnant to take this test - you can learn so much from it and you shouldn't be scared about getting information like this - knowledge when planning anything (including a pregnancy) can empower you. Second, just because you and your husband are both carriers, it does not mean you cannot have children - you can use PGD to screen embryos before implantation to make sure that your future child is not at risk.

I wish you all the luck and love in the world. Do not stop trying, you will get there!!!


Sarah Howard (Barbour) said...

Hey Erin (&Ryan)
I'm thinking about you guys...I'm sorry this is so hard and not what you expected...parying that God reveals Himself to you in ways that bring you peace.
sarah howard

Anonymous said...

Hi, Ryan and Erin, Your words take us to the very core of your trial and your faith in the midst of it all. Praying for you always and thanking God for your unshakeable faith. God is good all the time, even when life is hard. Love, hugs and blessing to you both, Rosanne

Shivani said...

Thank you for sharing your perspective. I am the Director of Women's Health at Counsyl, and I was wondering if you would be willing to share this story on our website? Seeing how couples manage their results has proven to be very inspiring for our audience. For instance, if you go to, you will see the Baumgartel story captured in a short film. Please give it some thought. Much appreciated, Shivani Nazareth (

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