I was 13 weeks pregnant with my fourth child before I learned the word Arthrogryposis. I went in for my 13-week triple-screen ultrasound without any concerns. I was only 33 and had three other healthy children. However, I quickly knew something was wrong based on how long the ultrasound was taking. My baby’s arms and legs appeared to be stuck in a straight position, and there was no observed joint movement at the elbows, wrists, ankles, or knees. Luckily for me, my doctor knew what Arthrogryposis multiplex congenita (AMC) was, and was able to diagnose it at such an early stage. I left with lots of questions and went to the worst place possible for answers, the Internet. I was given details of babies who would never survive after birth, to adults with poor quality of life because they couldn’t eat, breathe, or even move on their own, to stories of healthy adults living independent and fulfilling lives. I found tons of information related to arthrogryposis in cows (also called “curly calf disease”) and its potential causes due to the financial impact it had on the meat industry. But I was unable to easily find any reliable source of information on what Arthrogryposis meant for my baby.
Luckily for me, a friend had recently delivered a baby with a tethered spinal cord and had a good experience with the Department of Maternal and Fetal Medicine at Children’s Hospital of Philadelphia (CHOP) and urged me to contact them. I was able to be seen for a complete medical workup at 19-weeks gestation and just had to wait the 6 weeks before I could get any more information. Their only advice in the meantime was to have my local doctor perform an amniocentesis and send it for genetic testing of known genetic defects that cause Arthrogryposis. They were able to tell me over the phone that Arthrogryposis was not a diagnosis, but just a symptom of something else, in the same way, that a runny nose or a cough is a symptom of some other infection. Finding out what was causing the Arthrogryposis in my baby would help determine what bodily systems it impacted, and what my baby’s quality of life would be.
Those 6 weeks were torture, praying for best outcomes and for the strength to go through all the testing and hear all the results. Finally, after a full day of tests, I learned that my son had no identifiable underlying genetic causes for his Arthrogryposis and that it appeared to only affect his joint movement in his arms and legs, but he would be able to eat and breathe on his own.
