47 XXY Life WORTH Living

47 XXY  Positivity

Jack’s Story

Our son, Jack Ryan, was born in June 2018—weighing in at 9 lbs, 2 ounces with a full head of luscious hair, piercing blue eyes, and the most lovable lips. Immediately, he exhibited the sweetest demeanor. We were looking at perfection. Anyone who laid eyes on him couldn’t agree more. Fast forward to today—Jack is now 7 months old and my husband, Matt, and I can’t go anywhere in public without getting stopped by strangers who look at Jack with full admiration. We are so blessed to be parents to such a beautiful baby boy who has brought so much unspeakable joy to our lives. There were times before Jack’s arrival, however, that we questioned whether we’d experience this kind of joy as parents. 

It was the end of October 2017 when we got an unexpected positive pregnancy test. I was just days away from running the NYC Marathon with a team of fellow Type 1 Diabetics. Little did I know that running that race 5 ½ weeks pregnant with Jack would be the first of many challenges that we would endure together. It was a brutal race, but we finished well. As I write this, I realize that running that race somewhat represents Jack’s life and how it is beginning to take shape—being given certain circumstances, persevering, and surpassing challenges, all while doing it with a smile. The night of the marathon, Matt & I hopped on a plane back to Los Angeles for our first ultrasound the following morning. We cried tears of joy upon hearing Jack’s little heartbeat and seeing a viable baby. Each consecutive ultrasound appointment solidified the realness of soon becoming parents. 

As a Type 1 Diabetic, I was considered “high-risk” and was fortunate to work with an incredibly knowledgeable and supportive team of doctors throughout my pregnancy and beyond. We were aware of the risks both for mom & baby with Type 1 Diabetes, but with a healthy A1C (the benchmark for blood sugar control), I walked into each changing phase of my pregnancy with confidence. Around 10 weeks along, my doctors encouraged me to do a genetic test called a NIPT (Non-Invasive Prenatal Testing), paired with a Nuchal Translucency Scan (NT scan). The NIPT blood test screens for genetic abnormalities and would also reveal the gender of our baby. We couldn’t wait! At this point, Matt and I had already planned our pregnancy announcement during Christmas at the end of my first trimester. So far, baby Jack was healthy and for that, we were beyond thankful. 

Just days before Christmas, I visited my maternal-fetal specialist (high-risk OB) for the NT scan and gender reveal. My heart was racing so fast. Matt had to work, so I was nervously texting him in the waiting room. When they called my name, they first directed me into the genetic counselor’s office. For weeks I had anticipated the moment we’d find out whether we were having a boy or girl. Immediately, I got a bad feeling—this was definitely not the way I had expected.

The genetic counselor cut straight to the chase and informed me that I tested positive for a chromosomal abnormality that was only present in males. SURPRISE! You’re having a boy! 
That was the way I found out. Instead of jumping up and down with excitement, I sat there frozen—almost paralyzed with fear, confusion, anger, sadness, and denial.

I had flashbacks to this exact time 6 years ago when I had been diagnosed with Type 1 Diabetes. The flood of emotions felt all too familiar. 

The counselor was very professional and empathetic as she explained what abnormality I tested positive for. It was Klinefelter Syndrome, also known as 47 XXY. She walked me through a very high-level overview of the 47 XXY and discussed our family genetics. Truthfully, it all went in one ear and out the other. I was assured that the screening wasn’t a diagnosis or a guarantee that our baby would be born with 47 XXY. In fact, there was an approximate 70% likelihood of Jack testing negative. I was offered the option to pursue further invasive testing to confirm the 47 XXY diagnosis. This would be done through either amniocentesis or CVS (Chorionic Villus Sampling). Matt & I had never heard of Klinefelter Syndrome- 47 XXY and our minds immediately turned to fear, wondering how this would impact our baby’s future. 

The NT scan showed a healthy, growing baby boy. This was at least somewhat reassuring after being hit with the NIPT results. As I walked out of the doctor’s office, I felt a wave of mixed emotions, finding it rather difficult to process the news. Making that first phone call to Matt was extremely hard as we cried together. On one hand, we were thankful for a healthy baby but worried about the possibility of having a son with a chromosomal abnormality- 47 XXY. We were looking for answers to what seemed like a million questions:

What would this look like for Jack? How will this impact his health? How will we care for him? Will he be “normal”? Will he excel in school? Will he be able to have children? What will be his quality of life? 

Being first-time parents can be nerve-wracking alone. Being a first-time mom with a pre-existing auto-immune disease was going to be even more challenging. Now add on a child who may have special needs from 47 XXY. Instead of dreaming about the arrival of our son, I was feeling overwhelmed and anxious. I began questioning my ability to raise Jack to the best of my ability. After extensive research on our ends, prayer, and discussions with our doctors, Matt and I agreed to wait until Jack was born to confirm his 47 XXY diagnosis through a karyotype test. The invasive testing wouldn’t have swayed our decision since we knew 100% we would continue the pregnancy regardless of the outcome. 

A few days had passed, and the initial shock of the results wore off as we shared our pregnancy announcement, revealed the gender, and watched my bump grow like crazy. Thankfully, my pregnancy was smooth (very challenging with Type 1 Diabetes) and the possibility of Jack having 47 XXY turned from a plaguing thought to something in the back of our minds. We decided to not let a possible diagnosis cloud the excitement of Jack’s arrival. We would deal with it when that day came. In the meantime, we did endless research on our ends to learn about Klinefelter Syndrome – 47 XXY as a precaution. 

After dozens of ultrasounds, non-stress tests, vigorous blood sugar management, and 3X per week doctor visits, my due-date finally approached. At 39 weeks, 1 day I had a scheduled c-section after my high-risk OB ordered to have Jack early. My amniotic fluid levels had jumped to dangerously high levels between doctor visits that week (As a Type 1 Diabetic, I had polyhydramnios, which is basically excess fluid). This explains the frequent doctor visits—fluid measurements. Jack was born via c-section and the procedure itself went beautifully until the nurses were stitching me back up. Matt and I were overwhelmed with joy in the operating room as we gazed at our beautiful boy, but quickly this joy turned to sheer panic as I noticed the medical team running back in. I began hemorrhaging and losing a significant amount of blood. Meanwhile, Jack’s breathing appeared rapid and irregular. Doctors ordered to have Matt and Jack leave the room as they worked aggressively to stop the bleeding. Fortunately, they did and saved my uterus. After two blood transfusions and an intense week-long stay in the hospital, I recovered well and was ready to take care of my son. Jack also stayed in the NICU for one week. He was treated for transient tachypnea (rapid breathing as a result of fluid in the lungs), pneumonia, and other infections. The traumatic delivery and recoveries for both Jack and I were overwhelming and distracted us from the test results to follow. We waited two long weeks for the results. Due to the emergency situation during the birth, they held off on the karyotype sample from the cord and waiting a couple of days to draw blood from Jack while in the NICU. This pushed the results back. My OB finally called and delivered the news—

Jack did indeed, test positive for 47 XXY, Klinefelter Syndrome. It was another paralyzing moment for us, but this time we embraced it and were prepared for what was to come. 

From the moment Jack was born, he became a fighter. We felt peace about the 47 XXY diagnosis and knew this was just another part of Jack’s story. Jack would grow up to do everything typical individuals do—the only difference is that he may have special challenges, or as we see it—a unique way or approach to doing things. Living with my own chronic illness has prepared me to embrace Jack’s syndrome and to teach him how to persevere through his own unique challenges. I’ve learned through trials and experience that I can do and achieve EVERYTHING in life like any other person. The only difference may be my effort levels and a different approach to managing my health, taking in more factors when striving to maximize my quality of life. I truly believe I was diagnosed with a chronic illness to teach my son the perspectives I’ve adapted, formed through experience, trial-and-error, and adversity. Instead of focusing on the negative aspects or limitations associated with 47 XXY swirling on the internet or outdated research, Matt and I have agreed to raise Jack using the approach I’ve taken with my own condition. In the same way that I’ve embraced my disease, we are committed to standing behind Jack as his biggest fans, pushing him to discover the best version of himself. Yes, this requires sacrifice and effort but it is SO worth it when we see Jack’s smile light up the room or when he meets another milestone. Now that 7 months have passed, we look at our perfect boy and wonder what on earth we would do without him. 

To the parents or the moms and dads who have just learned of your child’s possible or confirmed 47 XXY diagnosis, please let us offer hope and encouragement. As I write this, I have tears running down my face at the thought of missing out on the opportunity to give birth to Jack and to watch him grow and develop. Matt and I both agree that God blessed Jack with the gift of joy. He spreads it wherever he goes. My mind immediately goes back to that day in the genetic counselor’s office where I was overcome by the fear of the unknown and overwhelmed by the information overload of a foreign subject. Yes, it may take some time to process and to fully understand your little one’s 47 XXY diagnosis. We are still learning every single day. Each family has their own experience and will choose to navigate this journey how they wish, but here is a little insight we can share:

  • Commit to Learning—Knowledge is Power!

Commit to doing your own research and be wary when it comes to outdated research on the internet. Most publications are old, inaccurate, and focus too heavily on the limitations. Knowledge is power! We are committed to becoming students in this field and learning all there is to know about 47 XXY, so we can make the best-guided decisions for our boy. Our geneticist also offered a great piece of advice: don’t become overly obsessed with research that you miss out on your son’s first year of life. He is still a regular baby just like all the others. As parents, we’ve received the gift of knowledge by discovering at such a young age how Jack will grow, think, learn, and develop. Enjoy this momentous time with your son and find a healthy balance by staying in the loop with the ever-changing research, medical advancements, and studies in the community. 

  • Establish a Medical Team

If possible, establish a medical team that understands 47 XXY. By the time Jack was 1 month old, we already established a specialized pediatrician, geneticist, an endocrinologist. It’s refreshing to learn from these doctors instead of having to teach them and advocate for Jack’s care and needs. From our experience, most general doctors are familiar with 47 XXY, but not enough to offer the best advice and care. Your son deserves the very best! Working as a team is everything. 

  • Early Intervention- Proactive Vs. Reactive

Our biggest piece of advice would be starting early intervention as soon as possible! At 8 weeks, Jack began occupational therapy & physical therapy sessions weekly. He just started speech therapy this week. The therapy is crucial for motor skills, development, muscle tone, coordination, feeding, etc. When we started, he was delayed by about one month. He is now caught up developmentally and is exceeding the big milestones! It’s not easy, but we push him hard through home therapy and mix in playtime. We’ve added in weekly swim lessons too. Jack continues to progress as he is highly-driven and motivated. He has become quite a fearless little guy. Since learning about his condition and tracking milestones, we’ve noticed slight delays in his development, but Jack has worked very hard to break through every single one. We’ve learned to let him run his own race on his own timing. Instead of looking at therapy sessions as a burden, we consider them a blessing. We get the opportunity to watch Jack progress and have the reassurance that we’ve done our part to give Jack the best support early on. It is far better to be proactive than reactive! 

  • Focus on the Strengths

Learn to celebrate all the positive traits associated with 47 XXY instead of focusing on the limitations. (Side note: Jack is an all-star baby and if that’s indicative behavior of how he will be as an adult, then we have hit the jackpot). We’re learning more and more about the positives and plan to help Jack tap into his unique strengths. Instead of trying to dodge or mitigate the weaknesses, help your son identify and explore his strengths.

  • Celebrate Your Son’s Uniqueness

We are all created uniquely—we all have our own sets of strengths & weaknesses, challenges & triumphs, and ways & rates in which we grow, develop, learn, and communicate. Your son was born with an extra X chromosome, that’s it. Instead of comparing him to “normal” or “typical” kids or seeing him as “different,” celebrate his uniqueness and commit to celebrating all the ways that make him special. For example, instead of anticipating potential learning challenges in school, help your child explore the unique ways he learns and how his brain processes information. Shift your mindset and see 47 XXY as just a different way of approaching life. 


Matt and I are excited to continue on this journey together with Jack. We’ve learned to celebrate all things big and small. We learn more from Jack than he learns from us. He is easy to love and we’ve grown to adore him more and more each day. Our journey hasn’t necessarily been easy by any means, but it has been far more rewarding and fulfilling than we could have ever imagined. We believe there is a purpose in all things and that God perfectly hand-selected us to be Jack’s parents. This is our story and though we are still new on this journey, we pray it brings hope to other parents who are in the shoes we were once in. We can’t wait to see all that the future has in store for our boy and the great things he will accomplish in life, along with the wonderful guys in this community.  Jacks Mom 

Photography By Ryan Bregante

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