Friday, April 19, 2013

Update

So this post is really a continuation of this one. Really it's a continuation of the last two years and if you're new to the blog, I would suggest reading Our Story. A couple weeks after my surgery on March 4, I got a call from my doctor herself who told me that the genetic testing from this last pregnancy confirmed a genetic abnormality. Our next steps were to have a specific type of genetic testing called karyotyping done on both Dustin and me. This is where they look very closely at our chromosomes to see where exactly this genetic abnormality came from. We had blood drawn for that about a month ago and this morning, we had our appointment with a genetic counselor to go over the results. The result is that I am a balanced translocation carrier. This is where you'll need to put your thinking caps on and think way back to high school biology.

Typical functioning people are born with 46 chromosomes (23 from mom and 23 from dad). I have all 46 chromosomes, but they are arranged a little differently. This is something that was most likely inherited, but there is a chance it could've been de novo (not inherited). Basically, a piece of my #5 chromosome is attached to my #8 chromosome and a piece of my #8 chromosome is attached to #5. I've provided a picture for you visual learners.

I am considered a carrier, because I am completely normal (for the most part) and it does not affect my health at all. The problem occurs when my chromosomes are passed onto a baby. I have one normal #5 chromosome and one normal #8 chromosome in addition to the abnormal #5 and abnormal #8 (remember one #5 & #8 from mom and one #5 & #8 from dad). If the normal ones get selected for the baby, then we're fine and it would most likely be a healthy full term baby. If the abnormal ones (the multicolored ones above) get selected, it will result in miscarriage or severe birth defects if a baby did carry to term, because that would mean the baby has too much or too little genetic material. Here is a visual of the possible scenarios with just my chromosomes. Luckily, Dustin's tested normally. Consider the purple one chromosome #5 and the yellow one as chromosome #8.
So, what this really means is that by textbook definition a biological child of ours would have a 25% chance of having normal chromosomes, a 25% chance of being a balanced translocation carrier (like me) and a 50% chance of having unbalanced chromosomes.

Typically, someone with a balanced translocation will experience the following scenarios:
1. Infertility (meaning not able to even get pregnant at all). This is not our issue.
2. Recurrent miscarriage. This is where we are.
3. Live births. The chances of having a baby with a severe birth defect for us are approx. 2-4% given that my history shows that mine are more likely to miscarry if they are not healthy. In theory, the chances of having a healthy baby at some point are still roughly 50% depending on which chromosomes are selected.

So where does this leave us? Well... we could continue to try and get pregnant naturally, hoping that the baby would end up with either of the chromosomes at the end of the left arrow in the above picture. This would be a complete unknown until they could do some genetic testing in early pregnancy. Another option would be to do IVF with PGD (preimplantation genetic determination). Meaning, they would test all of the potential embryos before implantation to see which ones (if any) are healthy. This is really also an unknown, because there is no guarantee that any given cycle will produce any healthy embryos. Another option would be IVF using an egg donor or embryo adoption. Anyone that has done IVF knows very well that there are never any guarantees with it- even with healthy embryos.

This condition is something that affects approximately 1 in 1000 people (lucky me). Our genetic counselor is going to send our results along with a rough outline of our family history to a geneticist in New York who is going to take a closer look (hard to believe you can get much closer) and will tell us more specifically what our percentages look like instead of the textbook percentages (further miscarriages vs. healthy pregnancies). We could get these numbers in the next week or so.

Now that I've gotten all of the science out of the way and made your head hurt, here is also what I know. Our God is bigger than science. He is bigger than percentages and statistics. And He knew this about me from day 1. He knows what's behind us and also what is ahead. This certainly would not have been the road we would have chosen, but it's the one we've been given. We are (and have always been) trusting in Him each step of the way. We know that He has big plans for our family and will continue to remain faithful to this life He's called us to live.

10 comments:

  1. stephanie, you've been in my prayers every single night. when we found out of steve's inversion, it blew our minds and took lots of thought and prayers to come to our decision of donor sperm. i'm sure you're going through every emotion under the sun. i love and truly believe in the words you wrote in your last paragraph...i won't stop praying for you. as crazy as it sounds, we found out a couple years ago that our next door neighbors were going through infertility and shared our same RE - he (my, friend's husband) just so happened to have a balaned translocation - almost the same as steve's balanced inversion. we couldn't believe it with how small the odds were. they did pgd with his sperm and ivf and they now have a beautiful boy/girl six month twins. i know there are so many questions and so many options to consider and i will be praying that you find peace in it all. sending so much love. i'm here for you. <3<3<3
    maria

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    1. Thank you so much for the sweet message and your prayers!

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  2. Hi Stephanie! You do not know me, but our families know each other through Millbrook Baptist in Aiken. My sister read your blog and it reminded her of my story. In 1999 my husband and I began to try to have children. After 5 miscarriages over a year and a half and all of the testing, it was discovered that my husband has a balanced translocation. (You did a great job of describing it!) I remember getting those results and being so discouraged but my dr reassured me this meant the information could be carried correctly 50% of the time! We too met with a genetic counselor and and they did a study as well. So we kept on trying and welcomed a very healthy baby girl in March 2001. She just turned 12! When it was time to try for a sibling for her, we faced 2 more miscarriages. I was getting older and was very concerned so we saw an infertility dr, feeling that time was not on my side. He suggested IVF. God had other plans! Without knowing it, i was already pregnant when we met w/ him. On March 6, 2007 (my 37th birthday!) i had a positive pregnancy test. On March 20th (my mom's birthday!) we found out I was carrying twins! God rocks like that! In his good and perfect plan, I welcomed very healthy twin boys on Oct 24, 2007. What a miracle! Still in His good and perfect plan, Wills passes away in his sleep on March 2, 2008 at 4 months. SIDS rocked our world but God continues to sustain us! In October of 2008, the week of my twins' birthday, I found out we were expecting again. Our family was complete when Hampton joined us in June 2009.
    I write to encourage you! I am trusting God that you will welcome a happy healthy baby soon! If I can be of any assistance/answer questions/listen, etc, I am happy to! I know the road you are walking all to well. I also know that God is bigger than any of it!
    Love in Christ,
    Lea Peals Carter
    carter218@mindspring.com

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    1. Thank you so much for your sweet message! I really appreciate you reaching out to share your story!

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  3. Stephanie, I just recently found your blog through pinterest. Your continued faith in your path to parenthood is inspiring. Every couple's journey to have a baby is deeply personal but I just wanted to let you know that my husband and I (after an infertility diagnosis) opted to go the adoption route. My husband said something very powerful to me while I was grieving after my diagnosis. He said, "Sheryl . . . It doesn't matter HOW we become a family, it just matters that we DO become one. Let's explore adoption." The rest is history, really. We exlpored all adoption avenues - both domestic and foreign - and ended up adopting a little girl from China in 2005. She is now 9 years old and the complete joy of our lives. I feel strongly that this is the child that God chose for us. She was "mine" in every way the moment I held that first picture in my hands. I slept with that picture every night until we were united with her and when they placed her in my arms, I knew we were meant to be a family. I would never presume to say that adoption is the right path for every one but I certainly love to sing it praises as it was the avenue that brought me to my daughter. I wish you well on your journey, whatever is in store, and we will keep you in our prayers with the hopes you will become a family soon!

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    1. Thank you so much for sharing your story! I love hearing from those that read the blog and especially women who've walked this path as well. It means a lot that you would take the time to write this sweet message and I really appreciate it!

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  4. Just wanted to let you know I'm thinking about you and sending love and prayers always!
    Hope you and your hubby have a wonderful weekend! Xoxox

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    1. Thank you for your prayers and the sweet note!

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  5. Hi Stephanie, I saw Heather's(Notes from the Nelsens)post this morning and the link to your blog. I was taken back to a time in my life. Our life trying for five years to conceive...many different drugs, being part of a case study and six failed artificial inseminations before one finally took and we had twins. It was a long rough road, but God had a plan.
    Just as you stated God is bigger and has an awesome plan for you both. Lifting you up this morning as you continue to go through this season of your life.
    FROG-fully rely on God! :)
    Tasha

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