Finding Answers: Getting an Unexpected Diagnosis in Adulthood

Unanswered Questions in Childhood

Growing up, I always had this feeling that I was different, but I could never really pinpoint why.

I did great in school, but always struggled with math. When I say struggled I am not just using this term loosely. It was always a huge difficulty for me, to the point I would cry while trying to do it. I always needed tutors and even with that I would barely get through it.

Math wasn’t my only challenge. As a child I also had health problems such as recurring bladder infections that eventually led to surgery when I was six. During those procedures, doctors also discovered cysts on my kidneys. For a time, they suspected polycystic kidney disease, but that was ruled out. The cysts were a mystery, and no one could quite explain what was going on.

So I kept growing up, carrying those unanswered questions with me.

Growing My Family

Flash forward to years later as an adult, I met the love of my life, Mark, who is a firefighter, and got married in October of 2019. I always knew I wanted a big family, so shortly after we got married we started trying for our first baby. We got pregnant right away, literally days after my IUD was removed. I didn’t even have a cycle in between.

Our son, Wayde, was born in December 2020, and he brought us more joy than I could have imagined. When we decided to get pregnant for the second time, I assumed that it would be just as easy. However, this was not the case.

Diagnosis in Adulthood

We had been trying for over 6 months when we were referred to a fertility specialist. They did bloodwork and it came back that I had very low AMH, or low egg count. My doctor had mentioned Turner syndrome, but I brushed it off. When the genetic testing results came back, I was in complete shock to find out I did, in fact, have Turner syndrome. How was I 29 years old and just now finding this out?

I did some research on Turner syndrome because I had never even heard of it before. All my challenges as a child, health issues and learning struggles. Everything finally made sense.

What didn’t make sense was my son. Doctors tried explaining him, but couldn’t. He is our miracle.

I don’t know what the rest of my journey will look like, but I know this: my faith has carried me every step of the way. I know my story is not over yet. I am simply grateful to be here and experience life with my family.