Before Zane was born all I knew about genetics was what I learned in biology. I wasn’t even that interested in what I did learn. It wasn’t my thing. Now, genetics consumes me. I want to know everything there is. I want to find answers to my children’s genetics. I want more time with our daughter.

During my third pregnancy we knew Zane was small and that he had clubbed feet. We never expected anything that happened after delivery. I was induced at 37 weeks, on June 28, 2012, at our local hospital. Zane was born 4 hours later weighing 4 lbs. He was also blue and not breathing. We didn’t even get a chance to glance at him before he was whisked away and stabilized. A few hours after birth we got to touch him through the life flight incubator as they prepared to travel to Children’s Hospital in Pittsburgh. I spent the night at our local hospital without my baby.

24 hours later I was discharged. As we travelled to Children’s, I fully expected to get there and find out a discharge date and plan to take him home. Instead we were greeted by genetics who told us they believed my son had a terminal genetic condition and we may not get to take him home.

During the initial 88 days we spent in the hospital, we learned he DIDN’T have the terminal genetic condition they thought he had, but he did have a genetic condition they knew very little about. He was given the diagnosis of Trisomy 17 micro-duplication. What is that? We know he has an extra little piece of chromosome 17. After this diagnosis, they tested us to see if it was inherited. We found out it was inherited from me(mom) and that my other two typical, healthy children also inherited my micro-duplication. No one knew what that meant, if the diagnosis was the cause of his medical anomalies, or if it was going to be terminal. We spent the next 3.5 years living, loving, and learning. I’ve researched, I’ve connected with other parents, and we did as much as we could medically for Zane. We knew in the back of our minds that some of his medical anomalies could be terminal, but nothing prepared us for ONLY 3.5 years and still no answers why trisomy 17 affected him so differently than the rest of our family.

On April 28, 2018 we delivered our fourth child, Zayva Lauren. During my pregnancy she showed some similarities to my pregnancy with Zane. We knew there was a chance we may be on this road again. After 39 weeks I was induced. Zayva was not blue and weighed 4lbs. 13 oz at birth, but otherwise had identical symptoms to Zane. Strydor because of paralyzed vocal chords, club feet and clenched fists. We would also find out later she also has too many folds on her brain and will have developmental delays as well. It was assumed that Trisomy 17 had played a role in her anomalies. Again, we were greeted by genetics. This time, after testing, we found out Zayva has a chromosome 1 micro-duplication. Not 17?!? Once again we were tested. We found out I also have the same duplication. So now what? Where do we go from here?

Genetics is just as curious as we are. Their medical anomalies most likely have nothing to do with their micro-duplications. Zayva was able to answer some questions based on her genetics. Now we have her genetics to compare to Zane’s and then compare to ours. We are all hoping this gives us answers. We would like to get more than 3.5 years with Zayva and maybe even save her life. Also, we would get some closure with Zane. Although we know some of his medical conditions lead to only getting 3.5 years, we don’t know why.

As we continue on this journey, we hope to not only get answers for ourselves, but answers for others who are going through this journey. We also hope for a lifetime with Zayva.

For now we live in the moment and make memories with her. We honor Zane as we do so. If there is anything I have learned while on this road again, it’s love with your whole heart and never wait for tomorrow.