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The day our lives were shattered by a diagnosis

I was 13 weeks pregnant; we were fresh off our honeymoon in Italy, and we were ready for our check-up. This doctor’s appointment was different. This was our official “Genetic Testing” appointment—you know, the one where you can draw blood and know your baby’s gender before the 20-week scan? This impatient momma wanted to know their baby’s gender!

This appointment consisted of a blood draw and a detailed ultrasound. As we’re sitting in the ultrasound room, I’m going back and forth with the ultrasound technician and then notice she goes quite to concentrate. 45 minutes pass and I wonder what is taking so long—15 more minutes pass and it has been the longest hour of my life because I have no idea what they are looking at... or if there’s bad news. All of a sudden, she gets up and say, “I will be right back, I just need someone to help me with something.”

Carmelo and I look at each other with concern. But we wait. The ultrasound technician arrives with a perinatal specialist. He greets my husband and I, makes small talk, and then begin to look around. I knew it that moment…. “something is wrong with my baby.” I was finally about to ask that question, but I knew once I asked it, there was no going back: “is there something wrong?”

The perinatal specialist looked at both of us and turned the screen so we can also see what he was pointing at, he states: “this little black hole here… it’s supposed to be his stomach, but it’s actually extremely small for his gestational age. And if you look at his heart here… it looks like it’s actually slightly turned to the right.”

Here’s the kicker guys… my nephew Evander, son of my brother, was actually born with Heterotaxy Syndrome with Congenital Heart Defects (CHDs). Evander was my first and only encounter with Heterotaxy—at this point in time, my knowledge on Heterotaxy was that when it is diagnosed gestationally, it is because an organ or multiple are missing, they are too small or large, or organs on the wrong side or backwards.

Watching my nephew undergo open heart surgery, remain impatient for 120+days and almost losing his life on a few occasions—I had already seen it firsthand. I saw how it had broken my brother and his girlfriend down. I saw the emotional and physical strain it had on their family. I always told myself “I have no idea what I would do… you are SO FUCKING STRONG!” Little did I know, it was my turn for others to say this to me.

So, when this specialist pointed out to my sons’ organs, I knew, “my son has heterotaxy.” I just held onto Carmelo’s hand and wished this nightmare would end soon. I then asked, “so what does this mean?” The perinatal specialist then told us that the ultrasound technician would be finishing up with all the normal measurements and then we would meet in the conference room to discuss the findings. My heart sank.

As Carmelo and I walked into the conference room, two perinatal specialists followed and a medical student (permission was given he enter, as he briefly saw our ultrasound). As we sat down, I feel like the entire room became so fuzzy, it was just an absolute nightmare. They then explained what they had found and because of his complex anatomy, they were diagnosing him with Heterotaxy Syndrome. I just cried.

As they explained the prevalence and complexity of Heterotaxy, they explained that they could not tell us if it was Heterotaxy with Congenital Heart Defects (CHDs) or without. They then explained that baby’s could often be born with a heart on the wrong side and it would never bother or affect their quality of life. The doctors also said that his stomach was potentially that small because it was empty (little did I know at the time, his stomach had never grown to its full size, which caused issues in the future). The specialists then told us to come back in 3 weeks for ANOTHER scan, to discover whether our child had CHDs.

Fast forward time, we came back September 25, 2019. Although we were on a high because we had just found out we were having a beautiful boy, who already had the name Dominic Gabriel DeLeon, THIS was the worst day of my life. This is the day that they sat us down AGAIN in the little conference room—Carmelo and I sat opposite of two perinatal specialists and the medical student had come back for the updates. We had just finished up another hour of ultrasound scans and it was time. One of the doctors looked at us with sadness in her eyes and I just… I had already broken down as she told us “He has Heterotaxy Syndrome with Congenital Heart Defects. His heart is actually right sided, it appears that he is missing his spleen, his stomach appears to remain very small, but his heart anatomy is the most concerning.”

They then drew a picture for us and explained his diagnosis and the quality of life we can expect for our child. The specialists explained that his official diagnosis was Heterotaxy Syndrome with right atrial isomerism. They explained that his heart was growing on the right side, which was called dextroversion. He had atrioventricular septal defect (AVSD), which meant that instead of separate mitral and tricuspid valve, he had one common valve between the top and bottom chambers of his heart. He also had transposition of the great arteries, his pulmonary artery was narrowed, and had two Superior Vena Cana (SVC’s) which are the veins that bring deoxygenated blood to the heart.

Can you imagine? I am sitting here, 16 weeks pregnant with my first son, my first child, the one I had begged God for, and I have specialists telling me “your son has multiple and complex congenital heart defects; your son may be stillborn, he may not make it to birth, he may not make it long past birth, we won’t know more as we progress in this pregnancy,” and then the dreaded “you have the option to terminate this pregnancy, if you so wish, without judgement.”

They then explained that if we chose to move forward with our pregnancy, which “was a decision we didn’t need to rush with,” we 1) had to have one echocardiogram a month, on top of our regularly scheduled prenatal check-ups, 2) we had to consider where we would want to deliver (Salt Lake City, Seattle, Portland, or Aurora) because Montana did not have a single hospital equipped to deliver and care for such a sick baby.

I didn’t know what to think. I didn’t know what to do with myself. I just stared at the table and cried, cried, and cried. Then the doctor said “Raquel, I need you to know this, and I do not say this often enough to my patients, this is NOT your fault—you did not cause this, it wasn’t a little margarita you had before you found out you were pregnant, it wasn’t a medication, NO. This is NOT YOUR FAULT.” And yall better believe that I just broke down even more after this. Have you ever cried uncontrollably? Where a yell almost comes out of your body and you feel no control over what’s happening, what your body is going, or what is coming out of your mouth? That’s what was happening to me.

I remember leaving the clinic and just wanting to see my mom. I called my mom and asked to see her immediately. Upon seeing her walk out of the hospital where she worked, I ran to her and felt my heart drop to the pit of my stomach. I began sobbing and saying, “he has the same thing Evander does, my baby has Heterotaxy with CHDs” and just couldn’t stop crying. I remember feeling so angry! WHY!? Why my child!? Was it not enough for me to suffer with my brother, as we watched his son touch and go for several months?? What in the world could POSSIBLY be the purpose of this happening!

This is the day I felt my world collapse all around me. I went home that day and went into the guest room where we had just bought some wall decorations and I thought “I’m not even going to get to decorate this nursery,” and then I thought “my son might not even make it to this world alive,” and I just felt myself die on the inside. I cried so much that day. I had never seen my husband cry this much, either. We were both absolutely devastated.

After several hours had passed, my husband and I sat down to talk about our appointment. I looked into his eyes and said “we are not terminating this pregnancy. We are going to find a hospital that specializes in his condition, we are going to continue this pregnancy and enjoy every moment we have with our son, and we are going to fight alongside him.” We held each other for the rest of the evening, talking about how we would need to get out of our lease and began researching each of the four hospitals that were recommended to us.

Our hearts were shattered into a million pieces this day. But this is the day were I felt Dominic whispered to us “mommy and daddy, prepare for the fight of your lives—we will fight together until the very end.”

Thank you for continuing to read and listen to my story. Thank you for remember our Dominic.

With Love,

Raquel L. DeLeon

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