“Talk about nerves. ‘He’s a calm little guy!,’ my OBGYN assured us as they whisked him away to be washed and weighed. It was love at first sight. Then, just a few days before celebrating one month on this earth with our son, we underwent an intense baptism into a new, unimagined kind of parenthood. Our son was diagnosed with a rare genetic disorder.”
‘My hands were shaking as I gripped my son’s tiny hand in the backseat. ‘Just hurry up and get to the hospital.’: Mom’s confusion after ‘idyllic’ newborn’s rare Congenital Adrenal Hyperplasia diagnosis
‘Our son fell. I noticed red tracking down his vein. I then checked his elbow – the same. I felt a bit silly, but when the doctor saw it, he wanted him in ASAP.’
“My husband convinced me. The only reason I knew is because it had happened to a friend’s son 2 years ago. It isn’t something you can ‘leave’ until Monday when the doctors are back in the office.”
‘He asked, ‘What parts do you have?’ I said, ‘EXCUSE ME?’ I was uncomfortable being interrogated. He pressured me. I refused. He decided putting his hands on me was the ‘right’ thing to do.’
“I met a doctor I hadn’t seen before. I lifted my shirt to show him. Accidentally, I lifted it a bit too far, revealing my scars. He stared. I knew he was staring. Instead of doing the right thing, he decided to ‘find out for himself.’”
‘In the shower, he felt a dime-sized lump behind his nipple. Examination signs boldly exclaimed ‘WOMEN ONLY’. The c-word never crossed our minds. We didn’t even know it was a thing.’
“Every appointment was in a pink-laced room. Coming to terms with it was difficult enough, but the ostracizing sea of pink ribbons and pink hospital gowns only added to the emasculating nature of it. I felt such guilt in allowing the delay in getting the lump checked.”
‘No, I’m serious. He shot me.’ My husband was lying completely alone on the ground. He dragged himself away from the door. There was nothing I could do. Absolutely nothing.’
“My husband said, ‘I tried calling Ben, but he’s not answering. That’s not normal. Someone should go check on him.’ Ben has heart problems, he’s elderly. ‘I have a really bad feeling about this.’ They were not going to go inside because they knew he kept a loaded pistol next to the bed.”
‘Let’s check on those babies just for fun!’ When he got the twins on the monitor, he was dead silent. My stomach dropped. Then my phone started to vibrate.’
“‘Mrs. Filcik, we got the results.’ I was on the floor in the middle of the hallway with tears running down my cheeks. The doctor asked, ‘Mrs. Filcik, are you OK?’ I managed to say, ‘Yes, I will be. Thank you for calling,’ before hanging up.”
‘YOU CAN’T HAVE THAT, YOU’RE PREGNANT.’ ‘You cannot be serious. It’s one cup. It’s fine.’ Grandma is banshee screaming at this point.’
“‘NO YOU CAN’T HAVE IT YOU’RE PREGNANT IT WILL MAKE YOU HAVE THE BABY NOW YOU CAN’T DO IT I WON’T LET MY DAUGHTER DO IT EITHER BUT SHE DRINKS IT ANYWAY AND IF I CAN’T SAVE HER I’LL SAVE YOU INSTEAD.’ I don’t think she breathed during this at all. Also, what? Save me?”
‘I’ve never seen anything like this before,’ a nurse said. I could hear everything. I could hear the panic and confusion. But I couldn’t react. I wondered if it was me who was dead.’
“They were on video chat with a doctor from a different hospital. They told me something rare happened, something no one in this hospital has ever seen. This doctor was the only one who knew exactly what to do. It’s been 2 years, but today, we happened to be back at the hospital where he happened to be working.”
‘I was self-conscious after having a baby, so I got breast implants. I got the ‘healthier’ option. When I woke up from surgery, it felt like the air got knocked out of my lungs.’
“I’d express my concern at every follow up, but the doctor assured me everything was healing well. So, I ignored my intuition. The pain persisted. Years later, I looked through hashtags on Instagram, and everything finally made sense. I had discovered it. Instantly I knew.”
‘Why can’t we just fly to Heaven and bring her back down?,’ our son asked. We told our kids I had a baby in my belly, but she had a boo-boo on her head, and would not come home with us.’
“I had a strong mom instinct. First thing on Monday morning, I shut my ultrasound door and put the probe on my belly to check out the progress of the baby. Immediately, I knew something was wrong.”
