Here is our story.
My husband and I got married a couple years ago, and we knew we wanted children, and didn’t want to wait (I’m not getting any younger here, people). So fast forward to 4 months after our wedding, we found out I was pregnant – and I cannot begin to describe how excited we were. Despite asking my husband to not tell anyone other than our parents until we were past the first trimester, I’m pretty sure everyone my husband had ever met knew we were having a baby within the next week or two. Let me tell you – I was terrified. I had this feeling deep in my core that something was going to go wrong. That this was too good to be true.
We had our first ultrasound when I was 7 weeks and 4 days pregnant – and the words that would be used to describe how it feels to hear that little heartbeat just frankly do not exist. Fast forward to our 12 week ultrasound, and all looked good with our little peanut. We got the good news that our first trimester screenings all came back completely normal as well – so from what we could tell, it would be smooth sailing from here on out. Here is where I swallow my pride and admit that I have never been more wrong about anything in my entire life.
When I was 19 weeks pregnant – we went to have our anatomy scan that would tell us if it was a boy or a girl. The biggest thing I envisioned that this scan would change about my life would be what the theme for my child’s nursery would be. We quickly found out that we were having a boy – and we could not have been more thrilled. My husband and I have all nieces, and deep down I had already admitted to myself that although we felt like it was going to be a girl, I wanted this baby to be a little boy (I know, I know…the proper response is "I don’t care if its a boy or a girl, as long as it’s healthy!"…proper was thrown out the window).
Then came the dreaded sentence. "I think the doctor is going to want to discuss some things on the ultrasound with you, and she will probably want to send you to a specialist". The doctor came in and explained that while for the most part everything on our baby looked perfectly normal, his long bones (the bones in his arms and his legs) were short. VERY short. I was 19 weeks pregnant, but the baby’s arms and legs were only 15 weeks long. If anyone has ever had a pregnancy with complications, you know that your normal OBGYN is very limited on what they will say. They won’t give you any information really about what an abnormal finding may mean – they just send you on to the specialist. The only thing our OBGYN could say is that the ultrasound tech’s first gut feeling was dwarfism. And there you have it – the word that would change our lives, and the last word in the entire universe we ever would have guessed we would hear.
We had an appointment with the specialist scheduled for two days later. I couldn’t work, I couldn’t sleep, I couldn’t eat. Obviously ignoring the doctor’s advice, we Googled ourselves to death trying to figure out what those measurements could mean – and let me tell you, it did not sound good. The most common types of dwarfism never presented that early in a pregnancy. Our baby boy was falling far behind, way too fast and way too early.
I spent over 2 hours laying on the ultrasound table at the specialists office, without the specialist saying a single word. He just scanned, and scanned, and scanned. He spent almost an hour trying to get our baby to flip over so he could see his face and get a better picture of his heart. He eventually gave up – this child was stubborn and did not want to move. I couldn’t for the life of me figure out why the doctor was so concerned about seeing his face – it was his arms and legs that were short. Then he finally started to talk. He asked us what exactly our doctor had told us. So we said what she said – that our baby’s long bones were short, but everything else looked perfect.
"That’s not exactly true". My heart sank faster than I ever thought humanly possible. My husband buried his face in his hands, and we sat waiting for more information.
The doctor continued to point out every single thing he saw "wrong" with the baby – his long bones were 4 weeks behind, he had a clubfoot on his left foot, the spacing between his vertebrae was abnormal, and his nuchal fold was much too thick. All of these things together, "Down Syndrome would be your absolute best case scenario – but even that is unlikely". The doctor told us he was confident our baby had either Trisomy 13 or Trisomy 18. I asked what that meant – and he stoically said that it was fatal, and it meant our baby was not going to survive. He said he was very sorry, and that he could do an amnio right then to confirm. Without knowing what else to think or do, we do the amnio while I’m silently bawling and my husband is holding my face. Our whole world came crashing down in less than 72 hours.
I spent the following 4 days laying in bed curled up with the baby blanket I had crocheted for the child who I was just told would never survive. The phone call comes with the initial FISH results (the full amnio takes 2 weeks to get back – but they screen for the top 5 chromosomal defects first and you get those back with the FISH test after a few days). The FISH test was going to tell us whether our child had Trisomy 13 or Trisomy 18.
He didn’t have either.
The FISH test came back completely clear – meaning our child did not have Trisomy 13, Trisomy 18, or Down Syndrome. I wanted to get off of the roller coaster now. I wanted an answer. I couldn’t take this ride anymore.
We went back in for a follow up with the specialist to do a repeat ultrasound a week later. He still wanted to see the baby’s face and his heart. Some chromosomal defects present with an absent nasal bone, and heart defects – but he saw them this time, and they were perfect. We hadn’t gotten the full amnio back yet – so the doctor said he was still pretty confident that our baby had a severe chromosomal defect. And if that wasn’t the case – then our baby had a severe form of skeletal dysplasia.
At this point – I was getting motion sickness from this roller coaster ride.
The few months continued to be full of ups and downs. The amnio came back completely clear – so we knew at this point the baby did not have a chromosomal defect. So they were focused in on skeletal dysplasia. We had a growth scan every 4 weeks for the next 4 months. Over that time, the baby’s long bones stayed on track for 4 weeks, then dropped off more the next 4 weeks, then stayed on track for 4 weeks, etc. So they went from telling us it was severe, to mild, to possibly nothing, back to severe. I needed some Dramamine by now.
Fast forward to the end of my pregnancy – the doctors had no idea what was going on with our baby. By this point, Asher’s long bones were more than 10 weeks behind, but otherwise he looked completely healthy. So my husband and I were preparing ourselves for having a child with skeletal dysplasia, as best as we could. And let me tell you – the unknown was the worst part of the experience. Not knowing what the future held for our child, how his life would be different, how he would be bullied, picked on, how we teach him to be strong enough to handles the staring people, the inappropriate or mean comments. But what we did know is that we would love him more than any parents had ever loved any child – regardless of his size.
At 39 weeks pregnant – Matthew Asher was born by C Section. At that moment – the words "skeletal dysplasia", "dwarfism", "long bones" all left my mind completely. All that mattered to me was that he was here – he was crying – he was alive – he was breathing – he weighed 6 lbs. 15 oz, and was 15.75" long – he was PERFECT – and he was ours.
Meet Asher. We do not have a diagnosis for Asher’s particular type of skeletal dysplasia yet. But what we do have is the sweetest, happiest, most incredible child who brightens every room he is in, fills everyone’s heart with more love than they have ever known. We have learned that dwarfism is not a scary thing – its a blessing. And I cannot wait to see the joy he will bring to my life, and how he will make this world a better place just for being in it.
I wouldn’t change you for the world little man, but I would change the world for you.