I have an ACTA2 genetic mutation connective tissue disorder. I was pregnant when we discovered this after finding my aneurysm when I brought up the concern of my family's history.
We chose a cesarean over natural birth hoping to prevent dissection given that I had an ascending aneurysm. Unfortunately the c-section wasn't enough and 2 nights after the birth of our miracle baby I began having horrible pain in my right jaw and neck and straight through my chest and horribly into my shoulder blades. This began around 9 p.m. I called the nurse numerous times telling her I had this pain initially I thought I was having a heart attack.
She just kept telling me it was gas pain even though I knew it wasn't, even seemed annoyed that I kept complaining and did a " poll" at the nurses station, came back and said she was sure it was gas pain and that was the consensus. This was despite it being heavily charted that I was a cardiac patient.
It wasn't until the obgyn came to see me around 6-7 a.m. that he learned I had been in pain and said it wasn't gas pain. He then and asked if I wanted to be scanned given my history and family history. Finally, I was taken down to receive a CT scan. Mind you, we were going to be discharged home with our brand new baby soon. Well the CT scan showed the Type A dissection. They immediately pulled me out of the scanner and there was an ICU nurse with her rescue bag. She asked if I knew why she was there, I said no but deep down I knew.
She told me they were concerned about my aorta and needed to stabilize me until the doctor got there. A physician's assistant came down and they brought me upstairs telling me they weren't capable of handling me there even though they are a trauma hospital. They didn't have a team or OR available to handle me and they were going to fly me to a bigger trauma hospital. I asked if I was going to die and they said they couldn't tell me that but I needed to stay calm for my blood pressure and that I needed to say goodbye to my baby, my mom and my fiancé.
Imagine trying to "stay calm" in that situation. Everything I ever wanted was to be a mommy and I was being ripped away from my newborn and told I might not make it to ever see him again. Thank God I made it through.
My dissection is very a significant Type A with residual Type B dissection. My surgeon is hoping to wait until my one year mark to do my next OHS which will be a root replacement and some more grafting, possibly a bypass. He says he doesn't feel safe with stents given my connective tissue disorder and the significance of my dissection. He's worried they'd erode my aorta.
My father, a nephew, and presumably grandfather all passed away from an aortic dissection. After I dissected, the rest of my siblings were tested and scanned. As it turned out, my little sister has ACTA2. They found an aneurysm and she had preventive surgery a month after my emergency OHS/repair. My older brother (father of my nephew that passed) also has ACTS2, an aneurysm and had preventive surgery a couple months ago.
The very worst news is that my baby son also has ACTA2 as well as my 5 year old nephew. They are being followed by cardiology at the local Children's Hospital. This is my story.