How we learned our son had a fatal condition
I was 19 weeks pregnant when I went to get a fetal anatomy ultrasound. We were told we could find out our baby’s gender at this appointment, and that the ultrasound technician would also measure our baby’s skeleton and make sure his or her organs were developing okay.
My husband and I wanted to wait to find out our baby’s gender until birth, and we let the sonographer know before she began the scan. Throughout the ultrasound, she would kindly advise us to look away every time she’d scan specific areas of the baby’s body, so that we wouldn’t be able to tell the gender. We saw our baby’s face, skull, hands and feet many times and never noticed anything wrong. Of course, we’re not experts so our baby looked just fine to us.
It was a LONG ultrasound but we understood every bone had to be measured. The sonographer finished scanning my pregnant belly and stepped outside to share the results with a doctor. This was a routine step because, it is my understanding, sonographers aren’t able to give any good or bad results to parents. A doctor, whom we soon learned was a high-risk neonatal-perinatal specialist, then came inside the room and softly said “I’m going to do a little bit more scanning because we noticed something, and want to make sure that what we are seeing is correct.”
If I am being honest— I wasn’t at all surprised when I heard her say that because during the ultrasound I had a bit of a hunch something was off. When I said it was a LONG ultrasound, I really meant looooooonggg. I think as a woman, and now a Mom, I had an instinct…cause we always have instincts, right? Still, I looked at my husband, held his hand, and then looked up to silently pray for everything to be okay.
The doctor then asked me how tall I was, and as she looked at me up and down, I said “I’m 5’1.” To which she may have responded, “okay, so you’re normal height.” At this point, I thought ‘alright, so what the F is happening? She asked for my height, now what? ‘
She continued scanning and said to the sonographer “I see what you’re talking about,” among other things I did not fully understand and can’t even remember now. She cleaned my belly and helped me sit up from the bed. Then, she took a big sigh as she sat on her chair, and began to tell us her findings.
WHAT WAS SUPPOSED TO BE AN EXCITING MORNING THAT DAY TURNED INTO WHAT FELT LIKE A NIGHTMARE WHEN WE HEARD “WE SEE SOME ABNORMALITIES IN YOUR BABY’S SKELETON.”
She told us that Sage’s limbs and chest cavity were five weeks behind from where they were supposed to be at this stage. She proceeded to explain that it appeared as if our baby had a form of skeletal dysplasia, better known as dwarfism, and that, based on the pictures, her gut was that this was a lethal anomaly.
I was obviously new to all of this and very much oblivious about anything dealing with dwarfism. I thought “dwarfism, that’s fine, I’m fine with that…but what does she mean by lethal anomaly?” My husband asked her questions while I just sat there, staring at her with confusion, trying to process and understand every word that was coming out of her mouth.
During her explanation, she mentioned there are over 400 diagnosed types of dwarfism and that one out of the three most common types is lethal.
WHEN I HEARD “LETHAL” I WORRIED IMMEDIATELY. TEARS RAN DOWN MY EYES AND I FELT SICK TO MY STOMACH, BUT I KEPT MY COOL. I DON’T REMEMBER EVERYTHING THAT WENT THROUGH MY MIND IN THOSE MOMENTS, BUT AFTER HEARING THE WORD “L E T H A L,” I FELT THE NEED TO FIND OUT IF THAT WAS THE TYPE SAGE HAD.
We had a long conversation with the doctor about what this could possibly mean for us as parents, and for Sage, our baby. We also discussed what it could do to my body —which happened to be nothing other than what any normal pregnancy could do.
In between all the medical explanation of skeletal dysplasia, we were also told that other parents terminate pregnancies when they find out that their baby is diagnosed with this condition. By law, the doctor had to tell us that we also had the option to do the same, and that we had until the 24th-week mark to make that decision. My mind was blown. I am well aware many women have their personal reasons to terminate a pregnancy—but I thought, why would I, at 19 weeks, consider ending my baby’s life if he or she wasn’t in any danger or causing me any harm?
The doctor also advised us that I could carry our child to full-term without any complications on my body or on the baby. Sage would continue to grow and we would just have to be monitored more frequently to make sure that we were both stable.
MY HEART HAD BEEN SET FROM THE MOMENT I FOUND OUT I WAS PREGNANT — I WOULD LOVE OUR BABY NO MATTER WHAT — SO THERE WAS NEVER A SINGLE DOUBT THAT I WOULD CHOOSE TO CONTINUE WITH MY PREGNANCY REGARDLESS OF SAGE’S SKELETAL DYSPLASIA.
My husband was on the same page. I vividly recall an appointment with my OB where we were asked if we wanted to do genetic tests that could determine if our child would have down syndrome. My husband and I immediately declined, as him and I had previously promised each other to love our future child regardless of any condition, disorder, or problem he or she may have. Therefore, we thought any and all tests were unnecessary. Of course, when my husband and I made that promise, we had no idea that our soon-to-be son would indeed be diagnosed with a disorder.
That same morning and in the same office, we met with a genetics specialist whom further explained the different types of skeletal dysplasia, as well as explained how an amniocentesis could help determine what caused our baby’s disorder and which kind he or she had.
I didn’t hesitate to accept to do an amnio because I really wanted to know if his dwarfism was lethal. Within minutes of going through the risks of the amnio and after signing paperwork, a small amount of amniotic fluid was removed from the sac surrounding Sage. I must say the amnio went by quickly and smoothly, and without any harm to either of us. From there, the fluid went to a lab for testing while my husband and I went about our day back at work.
We tried to remain as calm and as positive as possible after that unbelievable morning, but we were definitely hurt by the news and we spent the next few days anxious to find out the results.
Three days later, I received the call from the genetics specialist as I was sitting at my desk at work. Shaking, I asked her to give me a few minutes so that I could get my husband to join me on the call. I didn’t want to hear anything unless he was there too. My husband and I happen to work at the same company, and we quickly found a place where no one would disturb us as we listened closely to the interpretation of the results.
In a dark storage room my heart dropped when we were told the result was consistent with a diagnosis of a lethal form of dwarfism called Thanotophoric dysplasia. Lethal. No cure. The geneticist tried to make us feel better by telling us it was not our fault, it wasn’t anything we had done, or could have done to prevent this. It was a random genetic change and neither of us were at fault. Of course that didn’t make us feel better.
Why was it lethal? Because not only were his limb bones short, but so were his chest bones. His chest would likely not get big enough to allow his lungs to grow to the size needed to support him outside of me.
AND THAT’S JUST HOW WE LEARNED THAT NOT ONLY WERE WE GOING TO LOSE A MUCH-WANTED CHILD, BUT THAT WE WOULD ALSO LOSE A FUTURE WE HAD BEEN ENVISIONING FOR OUR FAMILY.
A few more ultrasound appointments followed the prognosis, as well as several meetings with specialists including my Ob-Gyn, perinatologists, geneticists, a perinatal comfort care nurse, and others. At this point, all doctors were very certain Sage would not have enough lung tissue to be compatible with life and we had to decide how we were going to move forward. Martin and I chose to only give Sage comfort care when he arrived — meaning no intervention, and that he’d just be kept happy and comfortable when he arrived.
The next 12 weeks were emotionally challenging, but Martin and I truly did our best to do everything right by Sage.
So what the hell is Thanatophoric dysplasia (TD)? According to our internet research and according to the explanation given to us by multiple specialists, we know that it is is the most common lethal skeletal disorder that comes in either Type 1 or Type 2. Sage was diagnosed with Type 1, which is characterized by growth deficiency of the limbs, a narrow chest, short ribs, underdeveloped lungs and a flattened vertebrae.
The term Thanatophoric is Greek for “death bearing” and infants with this dysplasia are usually stillborn or die shortly after birth from respiratory failure (due to the underdeveloped lungs). One of 20,000 to 50,000 newborns are diagnosed with this condition, with Type 1 being more common than type 2. It considered an autosomal dominant disorder because of one mutated copy in the FGFR3 gene and occurs in people with no history of the disorder in their family. It’s not hereditary, nor generational.
In terms of why we didn’t disclose any of this “publicly” on social media or more importantly to many of our family members, friends, and co-workers — I speak for Martin and I as I write:
WHEN I CHOSE TO CONTINUE TO CARRY SAGE UNTIL GOD OR MOTHER NATURE WOULD SAY ‘IT’S TIME,’ WE ALSO CHOSE TO GRACEFULLY ACCEPT OUR FATE AND EMBRACE THE JOURNEY GOD HAD CALLED US TO (EVEN IF WE DIDN’T UNDERSTAND HIS PLAN).
We wanted to enjoy the time we had with our baby in my womb without having to constantly explain TD —to continue our daily lives as normal as possible, to only positively speak about our baby, protect the energy around him and only surround him with lots of love. We wanted to make sure everyone remained excited and happy to welcome a new member into the family —whether Sage would miraculously live or sadly pass away.
Thank you to those individuals who lent us their ears when we felt “ok” to share the dreadful diagnosis, and we thank everyone else for understanding our need to keep it to ourselves. 💛