During Pregnancy

After losing our first, Matt and I were overjoyed to find out we were expecting again. Too quickly though, anxiety set in as we feared I would miscarry again. I told myself that after I heard the heartbeat at 10 weeks, I would feel better. Hearing his heartbeat was the most amazing sound I ever heard and would continue to make me emotional throughout my whole pregnancy. Unfortunately, the fear didn't dissipate. We were told he was about 5 days small and there's a subchorionic hematoma. Subchorionic hematoma's often resolve on their own, but can also lead to miscarriages. Lucky me, a new thing to worry about. Thankfully, it would resolve on it's own but his size continued to be a concern. Later he would be diagnosed with Fetal Growth Restriction from being more than 2 weeks smaller than expected for gestation age and the first missed sign of Arthrogryposis. Guess what Fetal Growth Restriction can lead to. An increased risk that the baby will die inside the womb before birth.

Anatomy Scan

At our anatomy scan at 19 weeks, we found out there was something wrong with his arms and hands. The ultrasound tech became extremely quiet during our scans and my OBGYN provided very limited information as well. We were told that I needed to be referred to Maternal Fetal Medicine to see a high risk specialist in Charlotte for arm abnormality and a low lying placenta. They would be able to tell us more.

Maternal Fetal Medicine, High Risk Center

From there I saw the Maternal Fetal Medicine every 2-3 weeks for several months. At our first appointment there they repeated a full anatomy scan. When the doctor came in, he told us our boy has club hands (misdiagnosed), flexed down, and that he doesn't know the cause. We also weren't sure if he had fingers since they weren't seen in his last two scans. Additionally, he was concerned about his size and recommend an amniocentesis for additional genetic testing. We also spoke with the genetic counselor where we learned that club hands is almost always associated with a severe disability. Through my OBGYN we had already done testing for Trisomy 13, 18, and 21, which all came back negative. At this appointment we were also asked if we wanted to consider abortion and if we wanted more information because they couldn't do it there. We declined the discussion and the amniocentesis. I have vasovagal syncope which causes me to faint during shots and while giving blood. I was afraid I would faint and shake during the procedure which would put our baby as risk. If the needle bumped anything, it would cause more harm than good. Instead, the genetic counselor recommend a combination of several other tests including genetic carrier tests for Matt and I, cffDNA genome testing, and full exome sequencing, which all came back negative for Jax (first sign that he was misdiagnosed). However they kept this diagnosis the whole pregnancy. It wasn't until later that I agreed to do the Amniocentesis as the team felt the need for answers, now outweighed the risks.

Prenatal Genetic Testing

Trisomy 13, 18, and 21- Negative

Genetic carrier tests for Matt and I- Negative for shared carriers of the same thing

cffDNA genome testing- Negative

Full exome sequencing- Negative

Amniocentesis, our last resort and effort to find answers- Negative

At this point we had done all the testing that our genetic counselor felt like we could do before he arrives. Since we hadn't found anything, we asked her what the odds were that he didn't have a disability along with the club hands. She said that it was possible but that the odds where unknown. Honestly, looking back this makes me a bit angry. At a high risk center, shouldn't this have been a sign that we were looking in the wrong direction?

OrthoCarolina Consult

We were able to request an appointment with an orthopedic pediatric specialist to learn more about what to expect when our little man arrives. We met with the head of OrthoCarolina, Charlotte, Dr. Chadderdon. He looked at the scans and told us that he usually doesn't meet with patients before they are born, so reading scans is not something he's used to. He was able to confirm that Jaxson had both bones in his arms. Club hands are caused by missing a bone or having one that is shorter, which causes the wrist to pull down and in towards the body. (Second sign of misdiagnosis of club hands). He also asked us if we saw much arm movement or bend in the elbows. Many, if not all of his scans since his anatomy scan had shown him with his arms out straight in front of him. He was a very active baby, kicked me a lot, and moved often for the tech, but did he ever bend his arms? I told him I would have to ask at my next appointment. I wondered if these questions meant he thought it could be something else. I thought about asking but didn't. I think about this ALL THE TIME. Did Dr. Chadderdon suspect Arthrogryposis? At this point, neither Matt and I knew this disability existed, but I'll always wonder if Dr. Chadderdon suspected it.

At our next appointment, we asked about if he's been bending his elbows and they believed he had. That day, the ultrasound tech said one of his hands were covering his face, so he must be able to bend them. Arthrogryposis Multiplex Congenita is caused from lack of movement for extended time in the womb, so this may have been one of the reason's why the high risk center missed his diagnosis.