May 8th, 2017, is a day I will never forget. It was the due date of a baby we never got to meet, and the same day I found out I was pregnant with my son. I was excited to tell my husband he would be a dad, as we had been trying since Christmas 2016. I waited until he got home that night and showed him the two lines confirming. He was in shock, and because of our previous loss, we were both scared but ecstatic! The next day I confirmed with my employee clinic that I was pregnant and called to make an appointment with my OBGYN. Unfortunately, my OBGYN didn’t want to see me until 6 weeks, and I was only about 3 weeks along. The weekend before my 1st appointment, we went away to Charlotte for a friend’s wedding. The night of the wedding, I started spotting. I remember sitting in the bathroom crying. No, no, no. Not again! But the next morning, nothing, and I felt great.
In my 1st OBGYN appointment, they asked if I wanted an ultrasound, and with my previous miscarriage, I had 5 ultrasounds by the time I was 12 weeks pregnant. I opted out and asked to wait until my next appointment. They agreed, and we went over how to eat/drink healthy and vitamins, etc., and asked that since I was now 35 years old, would I like to take a NIPT at my next appointment. I didn’t really know what to say or what it was. The nurse told me, “oh, it just checks for things like Trisomy 18 and Turners,” and handed me a brochure. We decided we would talk about it. My next appointment was scheduled for 11 weeks.
11-week appointment – my husband came with me. I got an exam from the doctor, who did a bedside ultrasound and said everything looked great. I was so scared to look at the screen and see no heartbeat like my last pregnancy. My husband squeezed my hand, and the doctor said, “Yay!!!” There he was, growing so perfectly, had a great heartbeat, and was a dancing bean! We went over the NIPT again, and she said if you want it, we need to do it now as the tests don’t work after 12 weeks, and your insurance will pay for it. Ok, I agreed to do it. Blood work is drawn. They tell me it will take about 2 weeks for results, and off to work I go.
Between the time they took my blood work and the day I received my results- our local hospital ( mission) had decided they will no longer have a labor and delivery unit and the Missions woman’s office lost a bunch of OBGYN including the one I had seen for the last 5 years.
I was at work and received a phone call from my OBGYN office. It was a doctor I had never seen or spoken to before. I took the call outside, as she asked me if I was in a location I could sit down. I have a desk job, but it seemed like a serious phone call, so I ran outside. I was 13 weeks pregnant, and I really thought she was calling to tell me the sex of the baby (which I had been waiting for 2 weeks to find out).
I then heard, “well don’t freak out, but the test shows that your baby has two Xs and a Y”. I said, “um, ok”. I didn’t really know what to say because I didn’t know what that meant.
She proceeded to tell me I needed to make an appointment with a genetic counselor and told me that she has no answers to any questions I may have, as it’s not really part of her job. Hmmm. Ok, well, maybe if I knew what she was talking about, I would have been angry at the crummy way I was being told over the phone about an important part of my child’s life.
She told me, “well, if it’s a boy, then we can worry, but if it’s a girl, it’s false. So don’t freak out just yet.” Ok, so I still don’t know my baby’s gender (at this point). And how am I NOT SUPPOSED TO FREAK OUT? I don’t even know what just happened!
The rest of my afternoon, I didn’t talk much at work, and I went straight to my computer and started googling XXY. Now, I wish I never did that. I was staring at old 1940s black and white photos of pubescent men, skinny, hunched over with breasts and micropenis. Still to this day, I see these images in my brain, and it makes me shiver. I never found informative information that day, just images.
On my drive home, I cried, just cried. No music, no windows down, just cried the whole way( luckily, I live about 8 mins from work). My husband had to be told, he just got home a few minutes before me, and I looked at him and cried more. He obviously had no idea what was going on. I didn’t want to tell him by phone or text. That’s why I waited (you know, unlike my OBGYN ). I barely got the words out. He just hugged me and said it’s going to be ok. At that moment, I knew it would be. If my husband is ok with it, then I will be too. We can do this together.
I spent the rest of the evening online, searching for something, anything. It was still all outdated garbage that had my pregnancy hormones out of control. That night I hated myself. I thought, “what did I do wrong? Why me?!?” We had a miscarriage 6 months prior, and I wanted this baby so bad! I decided I did not want invasive testing, and I will do everything I can to keep my baby safe.
Since my OBGYN said I needed to make an appointment with a genetic counselor, I did. I put it off for a few weeks, as I wasn’t ready mentally. My husband could not come with me, so my stepfather drove me 80 miles to the specialist. We got there early, and they actually took me right in. I sat with the genetic counselor first. We went over what XXY/Klinefelter’s was, and she asked (what felt like) 100 questions about mine and my husband’s family tree. She explained how it happened. You know sperm to the egg and the breakdown of cells and our DNA. She handed me a printed-out packet (of all the same stuff I had already seen online). Ugh. I was unimpressed. It was a list of these “things” that will be wrong with my son. In the second part of my visit, I get to see my baby!! He was a boy! (Finally, confirmation) He was moving all over the place, and he looked perfect in every way! I was so scared to look at the screen, but he was just a perfect baby boy! At that moment, I was never so in love with something or someone. I proudly took those sonogram pictures to my stepdad and showed my baby boy off! I told my husband when he got home how uneducated the genetic counselor seemed. Is this possible? I mean, that’s what they go to school for. At least I was happy my ultrasound confirmed my son was healthy.
Next OBGYN visit. Another ultrasound and other OBGYN I had never met. I explained I wasn’t impressed with the specialist, and since it was so far, I really didn’t want to go back there. This OBGYN agreed it was ok to stay in town and not have to see the specialist again.
Next OBGYN visit, hey guess what? The last doctor I saw left too, so now I had to see another one. This doctor told me that the last ultrasound didn’t show a good enough picture of my son’s heart chambers, and they wanted me to go back to the specialist in Asheville. Ugh. I told her the previous doctor told me I didn’t have to, and she said no, you have to.
Ok, so back to the specialist. This time my husband gets to come. My son refused to show his heart to the tech, but after jumping jacks and Orange Juice, we got him moved, and his heart looked great. But I had to go back at 30 weeks to confirm his growth. I must have been pregnant moody, but I was mad about it. Why I couldn’t see my normal in-town ultrasound tech, I still will never know.
Being pregnant is a hard task in itself; hungry, tired, doctor appointments, people asking how you feel, how is the baby, you can’t eat that, don’t lift this, don’t clean with that, did I buy all the right stuff. The list goes on. So add in a chromosome/genetic disorder diagnosis and it changes things up.
I worked two full-time jobs my entire pregnancy; one, I waited tables and had regular customers who wanted to know all about the baby. I kept a positive, upbeat persona, repeating everything is great! It’s not my diagnosis, and it’s my son’s. I want my son to tell people when he is ready and who he wants to know. Because my husband and I decided to take this approach, I really had no one to talk to. I spent a lot of time at the OBGYN specialist, had lots of ultrasounds. The ultrasound tech always had a hard time finding all 4 chambers in my son’s heart. His heart is fine. He was just stubborn and refused to let them get a good picture. Finally, at 30 weeks, I was cleared not to have to go back to the specialist. We celebrated by eating at Red Lobster (we don’t get out much!).
Looking back now, I wish I would have enjoyed my pregnancy instead of fearing it. I actually felt great! I never had morning sickness. I only gained 26 lbs. My hardest task was putting my winter boots on and taking them off. I was fortunate to have had such an easy pregnancy, except for being poked and prodded by the doctors.
As a First time mom, this was the most amazing, beautiful, special, and important day of my life.
I went for my weekly OBGYN check-up; I was 38 weeks pregnant. My blood pressure was high (I was mad at my husband for being late to our doctor’s appointment, so I blame him, joking obviously). They hooked me to a monitor to watch the baby and rechecked my blood pressure after about 30 mins. Still high. I checked my urine for proteins, no protein, but they sent me to labor and delivery as my blood pressure rose. They diagnosed me with preeclampsia. Since my town no longer had labor and delivery, I had to drive to Asheville. They started induction by using the ballon first. I went to 4cm, and they asked if they could give me Pitocin to get things going. I asked them to give me time. I agreed to the Pitocin 2 hours later. They broke my water about 45 mins later. After my water broke, I met my little man in 24 mins, all-natural, I was asking for an epidural, but it was too late.
He was placed on my chest and didn’t cry, and he babbled, the sweetest babbles, and then looked up at me. I looked back at him to see this most amazing, perfect baby boy! They weighed him and did their normal doctor stuff, and handed him right back. No issues, no worries, and to be honest with you, I spent most of my pregnancy concerned, and I wasn’t concerned anymore. The thought never crossed my mind that he was possibly diagnosed with anything. The doctors commented on how he was the perfect color, and he was known as the cute baby on the floor!
I was pretty sick myself and didn’t remember too much right after that, but the pediatrician working that night came into our room about 4 hours later to look over my son. As he looked him over, he said: “oh little man, your parents had a test, and I’m sure you gave them a scare, but I see you look just the way you should.” That was when I remembered he might have 47xxy, but that lasted only at that moment and immediately went away. I was so in love. He was such a good baby that night. He slept, cuddled, and welcomed guests to visit him. He never fussed, and I thought, aren’t babies supposed to be hard? I was not only given a perfect gift, but he was also a good boy! The nurses loved him!! He had a perfect latch to breastfeed, but my body did not produce food for him. I was an inpatient at the hospital for 4 days, and I begged on the 3rd day to give my baby formula, and they did. The nurse told me only to give him 0.3oz. He was so hungry, so I let him eat. He ate 2oz so fast, and I let him. Moms have a way to know what their babies need. I was released on the 4th day around 2 pm, and I was so excited to go home with my baby.
The entire time at the hospital, my husband and I never spoke about the what-ifs of XXY. We forgo. That’s the truth. We were parents to a baby who needed our love, and that’s what we provided to him, and he provided to us a feeling we never knew existed.
Since I was not aware I could have my son tested in the hospital to confirm his diagnosis, I had to wait for my pediatrician to request lab work at his one-month appointment. The hospital also failed to do his newborn screening blood test properly, and we had to have his heel pricked, and blood was drawn for his XXY diagnosis. By this point, I had over-educated myself on KS. Staying up with a newborn gives you a lot of free time on Facebook and forums. I came across an old post on Facebook that said you have to ask to have 100 cells tested or an accurate diagnosis. Now I’m all mom-like and demand 100 cells to be tested. I wasn’t going to retake the test. It had to be right the first time!!
Two-month baby appointment. Results are in. My son is Mosaic 46xy/47xxy. The pediatrician was extremely gentle with the news and was the most positive experience to date. She patted us on the back for being positive parents and treated mosaic-like it was even more special. She gave me printouts from the focus foundation, she did her job, and you could tell she studied up before us getting there that day. And she said something that will always stay with me.
“This does not define your child. When I see him I see a baby, a normal baby.”
My son has hit his milestones, so far, on time or early. He lifted his head before we came home from the hospital. He sat unassisted by 5 months old. He crawled at 6 months. He started cruising furniture at 7 months. Walking at 11 months. He has slept through the night since he was 9 weeks old. We just celebrated his 1st birthday. He doesn’t like cake, so we had olives. He has had over 200 types of food. He loves music, cars, and throwing and kicking balls. He is sweet and knows no stranger. He smiles at everyone we see. We get compliments on how well-behaved he is and how enjoyable he is to be around. We struggle with cow milk, so we use an alternative formula and almond milk. He is also stubborn when It comes to a sippy cup, and he wants an open cup.
I am very proud of my son, and I’m excited to see him grow and learn.