When you get married, most couples start thinking about family. How many children do you want? What are your dreams for your children and family as a whole? Will you have all boys, all girls, or a mixture of both? What are your favorite baby names? What most couples don’t think about is what happens if our genes do not play nice with each other.
Jacob and I were blessed with our first, Alyssa, just like most couples. She was an unexpected pregnancy, but turned out to be a perfect little blessing. We knew we wanted a large family, so we started trying for our second pregnancy when Alyssa was a year old. To our surprise, we got pregnant with Avleigh very quickly. The pregnancy was normal for the most part. From birth through her first two years, we knew something was really wrong with her development. It took TWO years to find Avleigh’s rare diagnosis, Pontocerebellar Hypoplasia Type 2D (SEPSECS Gene). You can read through this journey and see how upside down our world was turned when we found out the issues she was experiencing were not just delays, but terminal. So how does that work with the dreams of having a large family?
When Avleigh was around 3 years old, we decided to give science a change at giving us and the girls an addition to our family. We knew it would be hard with an independent, strong-willed 5 year old and a completely dependent special needs 3 year old. We just knew that the addition would just create more love for our family. So with that said we decided to adventure into IVF treatments with PGD (genetic testing).
Every person has two copies of the SEPSECS gene. In both Jacob and I’s case, we each have one “good” copy and one “bad” copy. This makes us both carriers for PCH2D. Avleigh had my “bad” gene and Jacob’s “bad” gene. This made her affected and diagnosed with PCH2D. We have yet to get Alyssa tested. She will either be a carrier, like us, or she will be unaffected. We will get her tested when she can handle it better at an older age. So this means for our future children they have a 25% chance to be unaffected, a 50% chance to be a carrier like Jacob and I, or a 25% chance to be affected like Avleigh.
For the first cycle of IVF it was very successful with the retrieval. Five embryo, 3 boys and 2 girls, made it to the stage where they could be tested, then frozen. Of the five, three were affected by PCH and the other two had abnormal chromosomes. These results were pretty devastating considering the high hopes that we had and the large investment required to give this a try. At this point we were heart broken and broke!
A year later, we decided to go for IVF again. We had a very successful retrieval with another five embryo that made it to the testing. Just like we experienced in the first cycle, all the embryo were either abnormal or affected. So round number three we went. Our guards were up from the let down that we had experienced, but we tried our best to remain optimistic. But just like the other cycles we had another four embryo that would not produce a healthy, unaffected baby. From that point forward we decided that it just wasn’t in the cards for us.
When Avleigh passed, we felt like something was missing. Especially for me… I was missing that maternal closure of raising my last baby through life’s “normal” milestones. It made my longing for Avleigh and the want to have her in a normal state even stronger. So about a year ago we decided to explore our options once again. With these fertility options, we did get pregnant not once, but twice. The first pregnancy was very weak and I miscarried very early. On the second pregnancy everything seemed to be going really well. The labs looks great and boy was I sick! It’s always much more tolerable when sickness came with such a blessing. When it was time to check on the little one, the doctors didn’t see the development they were expecting. After weeks of monitoring, the pregnancy was eventually lost. This again was heartbreaking. It dwelled up all the feelings of losing Avleigh and these two little babies that we didn’t even get to meet. How do we give up now? How do we continue? When do you say “enough is enough”? I’m definitely not getting any younger! We met with our doctor for another consult to determine what was our best option for success.
There are plenty of options from another round of IVF with our DNA, IVF or IUI with a male donor, IVF with a female donor. What I didn’t expect to be an option was an IVF transfer with a donor embryo. Now, we explored all options outside of me carrying a baby and between the cost and trouble that you go through we didn’t feel regular adoptions was the right option for our family. With that said, it’s not the DNA that matters to us… it’s bringing in another baby into our family to love. The embryo adoption would be perfect for us. It fit within our financial budget and would give me the opportunity to get that maternal closure.
Our clinic was amazing in quickly finding us a family that matched our personal profile. This family was blessed with a very successful IVF treatment to not only have enough to complete their family, but also to have remaining frozen embryo. This family has opened their hearts in trusting us to carry out the life of their own and raise him/her as our own.
We know in our hearts that Avleigh would’ve loved having another sibling. She adored babies! Not sure if it was because they were on her level or if they couldn’t run away from her… hehe. Either way, she loved them!
To be continued…
Avleigh's Journey 
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