Our journey began at our routine 20 week anatomy scan. I knew when the doctor walked in and didn’t say anything as he checked for the heartbeat that something was wrong. He sat down, looked us right in the eye, and said, “We found some abnormalities.”
I went in for a scheduled c-section at 37 weeks at the recommendation of my OB. I was scared, but strangely calm. Everything went smoothly with the surgery, but they did end up taking him to the NICU due to concerns with his breathing. I remember the blurry face of one doctor trying to tell me everything that was happening, but all I could focus on was my baby in the background.
Our pregnancy journey was as uneventful and ordinary as it could have been until discovering that our son had shortened limbs. This meant quite a few trips to the hospital for ultrasounds. The upside to so many ultrasounds was I got to see him more, I even saw him yawn and got to see his little hair. He was always measuring small, but healthy in every scan we did. They strongly pushed for me to get an amniocentesis for a possible pre diagnosis, but I declined. I knew in my gut it wouldn’t do any good. Turns out I was right.
Thankfully, he was only there for a day before they returned him to my hospital room. And then I saw his tiny, perfect face over that curtain for the first time, and all that worry and stress just melted away. The nurses were absolutely smitten with him and his full head of blonde hair.
The doctors‘ at Shriner’s were surprised he’d been misdiagnosed. They told me individuals with Langer Mesomelic Dysplasia present in a very specific way, and Tobias was checking all the boxes. LMD is inherited recessively, and is marked by a SHOX deletion on both the X and Y chromosomes. This results in extreme shortening of the arms and legs. My very first question for them was, “Will he be healthy?” They said he should live a long, happy, healthy life. I replied, “Then that’s really all that matters.”
Looking back now, it was all kind of a blur after that. There were so many appointments, so much talk of what it COULD be, but never what it actually was, nights of furious googling to see if there was anything I could have possibly missed. They kept preparing me for the worst outcome, so I braced myself for just that the day they wheeled me in for my scheduled c-section.
They took x-rays and blood at the hospital, and a couple weeks later came back with a Leri-Weill dyschondrosteosis. We accepted that diagnosis and just go on with our every day lives!
It wasn’t until our first trip to Shriner’s where they actually told us our son has Langer Mesomelic Dysplasia. One more genetic test later, and here we are!
Right now, it’s just a day to day process. Tobias turns a year old this month, and has been happy and healthy since the day he was born. He has to wear splints nightly, to help straighten his arms and fingers out, with the goal being to avoid surgery. He can’t 100% sit up unassisted yet, and he’s not walking or crawling, but those things will come with time.
I couldn’t be more thankful, more blessed to have this little boy in my life. I believe whole heartedly the universe knew what it was doing when it gave him to my husband and I. He is my love, my light, and my everything in between.