My Journey

Sima • 🌸 32 Years Old • Army 🇺🇸 Veteran • Beau Leighton - Stillborn 10/27/18💙•

I have wanted to share this story for a few months now. I have always decided against it because I have been scared of how I'd be seen, or whether it even mattered. But this is my son's story, and he matters.

Back in May, I made a post on Facebook about how I had come to terms with the idea of <a href="https://glowing.com/glow-fertility-program">IVF</a> and that regardless of how hard it would be, I’d do it for a chance at having my own family. And then, just 3 days later, I got a positive pregnancy test result. But, let me back track for a minute.

I miscarried my first pregnancy back in August of 2017. From that month forward, getting pregnant was the only thing that was important to me. Yes, I kept busy with school and work (and a complete career overhaul), but I wasn’t fulfilled. We miscarried again, and I finally had enough and went to see my primary care doctor. Did I possibly jump the gun? Maybe. But I went anyways- I was determined. My doctor was a great guy, and he referred me (and Husband) for all the proper labs to determine if there was anything causing my miscarriages. Because of the labs and some other factors, I was admitted to the Womack Infertility Program. However, two days after he left to attend this school I decided I wanted to review my lab results online. I was not prepared. Everything normal except for my chromosomal analysis- I have 47 chromosomes. Before I even get into that, the initial fear that set in destroyed me. I cried for two or three days straight. I barely ate. And worst, I couldn’t talk to Husband about it because he didn’t have phone privileges. I wasn’t even sure if I should tell him, because I wanted him to focus on being successful at his school/training. It didn’t matter though, because when he did call me that Sunday he heard it in my voice. He told me to be strong, that we’d figure it out, and that no matter what- he loved me.

So, 47 chromosomes. I have something called a small supernumerary marker chromosome (there are SEVERAL other names for it). An sSMC is basically when one of your chromosomes duplicates a region, and that small portion breaks off and becomes its own chromosome, hence 47. It can be hereditary, or it can spontaneously happen. My specific duplication is from chromosome 15. To better explain, it’s similar to having a trisomy like Downs Syndrome (trisomy 21; 3 chromosome 21’s). However, I have no physical or behavioral/mental ailments from this sSMC. Here’s where it got scary- there are two well documented conditions, Prader-Willi and Angelman’s Syndromes, that are results of a marker 15 chromosome. Enter my reproductive endocrinologist, one of the best doctors I have ever had, who referred me to UNC for further genetic testing. I waited almost 2 months until I got those results back: that the region that was duplicated was not the region responsible for Prader-Willi or Angelman’s, and that in fact that region carried very little relevant genetic material. I was hopeful, happy, especially because I was told it carried very little risk to Beau’s physical development. However, we won’t know if it affects him behaviorally until he’s older, although the risk for that is low too. In fact, he might not even inherit it from me! Thankfully, my geneticist at UNC is amazing. My reproductive endocrinologist also introduced me to his old classmate from Johns Hopkins, who is one of the leading and premier geneticists in the US, and he is following my case/pregnancy. And I have the leading researcher on sSMCs (based out of Germany) also following my case/pregnancy. I am blessed to have such a strong team of doctors supporting my little family, and I am blessed to have my family support us as well.

Every day that this pregnancy progresses is a miracle and a blessing. I have a handsome little man growing within me who I can’t wait to meet in January. I am SO in love with Beau, I can’t even explain it. I pray over him every day, and I thank God for him. He surpasses every expectation when I get ultrasounds or lab results back- he is growing right on track, has no chromosomal issues that we have seen yet, no fluid in the brain, no cleft lip, nothing. He is absolutely perfect in our eyes, showing us just how strong he is and how determined he is to be here.