Andy’s Journey

I have been holding onto this story for a while – guarding it with my Mama Bear paws. This innate desire to protect my child is not unique to me. However, through this parenthood journey I have found that my most vulnerable moments have lead to my most powerful connections. I have decided to lean into this discomfort and embrace what comes out of it.

Today is International Children’s Growth Awareness Day which feels like just the push I needed.

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I have been struggling with what and how much to share since this not entirely my story – it’s really Andy’s story. And she’s not of an age yet to voice her opinions about what she is comfortable with sharing publicly.

I’ve discussed this hesitation with my husband who shrugged it off and made a very valid point: This is not something we want Andy to ever be embarrassed of. It is who she is.

So, I share with you today: the story of our family.

Jeremy and I were wide-eyed and bushy-tailed as we went into our 12-week gestational appointment. This was the appointment where we’d be able to opt into genetic testing – testing that would reveal to us the gender of our growing baby.

I had tossed the idea of keeping the gender a surprise (opting out of the genetic testing), but Jeremy quickly objected and we agreed that finding out was best for both of our personalities. 🙂

Our giddiness deflated pretty fast as the Nurse Practitioner who performed the ultrasound explained to us that the amount of fluid at the back of our baby’s neck was just at the minimum measurement for concern (i.e. it may be nothing, but it could be something).

My world started spinning.

As my mind raced through what this may mean, I looked over at my husband and saw the joy disappear from his eyes. He was no longer listening. He, too, was spiraling.

I don’t remember much of what was said after that point, but I remember trying really hard to be strong for our little family – there were three of us depending on that right now.

It’s been so long I barely remember how the moments after this played out, but I know I cried hysterically by myself at some point. And I know Jeremy definitely had his own intense moments of processing the news.

A few days later I got a call. I stepped out of my office and started walking the block around our building. The same thoughtful Nurse Practitioner who had performed the ultrasound was making this fateful call to me.

She handed me the news gently like the unknown gift it was: Our daughter (it was a girl!) had Turner syndrome.

Immediately I felt dumbfounded – what on Earth was this?! I’d never heard of it (which is no surprise: it is pretty rare – affecting about 1 in every 2,500 girls – source: Kids Health).

My only response was “What’s the quality of life for a girl with Turner syndrome?”

She let out the faintest hint of a chuckle and exclaimed “it’s usually good! They can live completely normal lives.” She described complications our baby may have or issues she may face (that would be lifelong), but all-in-all, this diagnosis was fine – we would be fine.

So, what is Turner syndrome?

Generally speaking, females have two complete X chromosomes in each cell. Females with Turner syndrome are missing a complete or partial X chromosome.

The most consistent features of TS are short stature and lack of ovarian development, however, there are other symptoms and characteristics that can appear in varying degrees, depending on each person’s unique genetic makeup. – source: Turner Syndrome Society

While Turner syndrome is a genetic condition, it is not inherited (despite the fact that I am also very short 😉 ).

I am oversimplifying my description of Turner syndrome because (frankly): I’m no expert. There are amazing resources out there if you are interested in learning more about it: The Turner Syndrome Society & the Turner Syndrome Foundation are two personal favorites.

• THIS is a really good video about what it’s like for youth living with TS.

I have said it a few times and I know it is very blunt, but this is the best worst-case-scenario after an appointment like that. My heart breaks for the families who go through such an experience only to receive devastating news. I may not know your struggle, but I know the fear you felt. I know the decisions you faced. My husband and I stared them in the face. It was a dark place to find yourself during one of the “happiest times of your lives.”

A few weeks later we met with a Genetic Counselor. She was amazing. Not only did she explain Turner syndrome to us in a very-technical-but-easy-to-understand way, but she was so warm and understanding.

She also explained the lab results in more detail: At this point, the chances of Andy actually having Turner syndrome was closer to 50% – really a flip of the coin. The only way to know for sure was amniocentesis (testing the amniotic fluid during pregnancy) or waiting until Andy was born (to test her blood).

Because of the risks associated with amniocentesis (which are still very low, btw) and the fact that the results wouldn’t change our decision to continue with the pregnancy or impact the path of care we were/would be receiving, we decided to wait until Andy was born to have her cord blood tested for TS.

The Genetic Counselor and her group followed my pregnancy until we were released around the beginning of the third trimester. Their ultrasound technician was the happiest person I think I have ever met and every time she found Andy’s heartbeat and confirmed her organs were functioning as they should she cheered.

Her contagious, uncontrolled excitement could have been because she knew the statistics.

My sister and Jeremy had found them too. They ran across the stats when we first found out.

Approximately 98% of fetuses conceived that have Turner syndrome will spontaneously miscarry early in pregnancy. – source: Turner Syndrome Society

During pregnancy, I refused to google anything. I wanted to put my head down and do.the.work. I knew we were fine – I was going to do all that I could to ensure a healthy pregnancy for both souls sharing my body.

Plus, as a researcher by trade, I couldn’t bring myself to believe that was a real statistic, but apparently it is (I’m not going to go into the research I finally did after Andy was born, but it’s a real stat).

The potential of losing Andy held me back emotionally. Subconsciously knowing the odds were stacked against her forced me to retreat into myself. My therapist once told me that I do a pretty good job of putting myself in a protective bubble when I need to. I definitely did this during pregnancy.

BUT…

Andy arrived.

Safe and healthy.

And a post-birth echocardiogram confirmed what the ultrasounds had indicated: she did not have any cardiac issues (this is at the top of the list of concerns for TS babies).

However, it would be a few days before we would hear the results from testing Andy’s cord blood for TS.

As anyone’s first few days with a newborn are, they were a fog. One evening, my friend (and Andy’s pediatrician) called. It was a little late for office hours so I wasn’t sure she was calling with the results. But she was.

She told us that Andy did, in fact, have Turner syndrome, but she has what is called “mosaicism.” Only about 50% of her cells are affected.

Mosaicism is when some cells in the body have two complete copies of the X chromosome. Other cells have only one copy of the X chromosome. – source: Mayo Clinic

At this point, we had done enough research to have an idea of what living with Turner syndrome might be like. We knew Andy would have lots of doctor’s appointments (yep) and she may be low on her growth curve (yep, but as her pediatrician says “she’s following the curve which is all we ask” and “Jordan, you’re short. She was always going to be small.”).

So, what now?

Right now, Andy is doing amazing. She is 8-months-old and following her milestones. She’s small, but so am I. I know how to function in a world built for tall people. I will teach her all of my tricks (like having her Dad reach everything) and buy her own folding step stool so she can carry it around the house like I have to 😉 (…and hem all of her pants).

We feel so incredibly lucky to not only have Andy here, but to have her diagnosis so early. We didn’t have to wait until she had a handful of issues pointing to TS. Andy is being followed by a wonderful medical team. We have the luxury of prevention and early intervention. We are so grateful for this.

Life is so incredible.

One of my coworkers has a daughter who lost her hearing as a baby. She has cochlear implants and is doing amazing. Whenever we discuss the girls she always tells me “God gives us our special babies for a reason.”

Andy was always meant to be ours. This was always supposed to be our journey. Life was always going to play out like this for us. We are not in control. The universe has a plan for us and we are trusting in that – because so far we have not been let down.

Finding our community

The desire to share this story more widely has been pulling on my heart. Close friends and family were following our journey all along. They prayed for us, held our hands, and didn’t question us relentlessly about it but gave us the space to share what we wanted to when we wanted to (to all of you: you mean more to our family than you will ever know).

When we first found out Andy had TS, someone said to me “I know you have tons of support, but you need to find your community. We will support you in any way you need, but none of us will know what you are going through. You need to find other parents with daughters who have TS. They will be able to relate to you.”

For the past few months I have been on a journey to find that community.

In the spring, I ran across information for the Turner Syndrome National Conference. I told my husband about it as a “tuck this in our back pocket as something we can take Andy to one day,” but in true Jeremy fashion he immediately insisted that I go. He knows I hate to trust the internet with medical concerns and I want to hear about TS straight from the doctors, physicians, researchers, and women living with TS. We weren’t quite ready to travel with Andy so he suggested I take my sister for a girls weekend.

I told my sister and before we could even make plans, she had already emailed the conference hosts for information about sessions. {She is literally the most amazing person on the planet. I wish everyone could have a Katie.}

In July, my sister and I attended the conference. The best part was seeing all the women and girls – of all ages – living and thriving with Turner syndrome. They were (& are!) amazing. They embraced each other in the most heart-warming ways. We met other families and connected with parents of daughters with TS that I am still in contact with.

While I am absolutely thrilled about the connections we made, I have been struggling to find and connect with families of girls with TS around Andy’s age (she’s 8 months old now!) in or around our area (South Carolina). As someone who is absolutely relentless in my pursuits of just about anything, if I am having a hard time finding this community, I KNOW there are others out there having the same struggle.

If you know someone affected by Turner syndrome, please share this post with them. If you are that person, reach out! Let’s connect – you can find all my information here.