Our story began with an ultrasound. Like any other parent we were so excited to see a glimpse of our baby. The scan took longer than normal and the ultrasound tech did not say much but we smiled and unknowingly left the hospital with pictures of our baby. The call would come the next day…something was wrong, a large cystic hygroma, fluid around the kidneys and an echogenic focus on the heart. I remember feeling like I was suffocating, my whole world was falling apart around me and I was powerless to stop it. “It’s a girl” was the last part of the conversation. The day before, this news was all I cared about, girl or boy; never once did I think anything could be wrong, I took a healthy baby for granted.
While some doctors gave facts and statistics and an overwhelming decision, one doctor inspired us with stories of hope. This tiny person inside me, the baby we were dreaming of, the little girl we had been hoping for was worth fighting for.
We continued with genetic testing; we needed to know, to be ready, research everything we could to help give our daughter her best chance. When we finally received her diagnosis it was not what anyone was expecting, Noonan Syndrome, a rare disease we had never heard of. Noonan syndrome is a variable disease that is unique to each patient, common symptoms are heart problems, feeding issues, bleeding disorders and gross motor delay.
Josephine was born at 37weeks and she immediately had a fight ahead of her as she struggled to breathe. She spent 45 days in the NICU before she was strong enough to come home.
Today, Josie still suffers from breathing complications, feeding complications and hearing loss.But she is also Josie, our amazingly loving, cheeky, energetic little girl who loves books, climbing and exploring outside. She has a beautiful bond with her older brother, one that is a true blessing to watch everyday. Some of our early days were hard and our future is uncertain but everyday with her is worth it.