Carmen shares the story about her daughter's early diagnosis and how she defied the odds.
Our story started at the 20 weeks anatomy scan. We were in the midst of grieving the sudden and unexpected loss of my newborn niece and nerves were already high. This was our first pregnancy and we didn’t have anything to compare our experience against. I wondered why we kept going back and looking at the brain over and over. I finally asked if there was something wrong and the ultrasound technician told me the baby was just in a difficult position and we might get to see our sweet baby again in a few weeks. The following day I went to my OB follow up and my doctor walked in the room and sat down. She reached for my hand and told me that they found some brain and heart abnormalities.
The next few days were a blur as I waited for the phone call from the local hospital.
On a late Friday afternoon, I finally got the call. Except it was a Resident from the large hospital an hour away. She introduced herself and told me she had reviewed my ultrasound and I would need to be seen at Oregon Health & Science University (OHSU) because my baby most likely wasn’t compatible with life. As my world completely stopped and time was frozen, she informed me somebody would be in touch “next week” to schedule an appointment. From that moment on, I had weekly and sometimes twice weekly appointments at both my local hospital and the large, research hospital an hour away. At every single visit I went to I was told the chances of my daughter having a normal life were very slim. Her anatomical abnormalities were rare, they had never seen a case like mine. Occasionally they would find new abnormalities, such as a “missing” right foot and non functioning kidneys. Each appointment I was reminded that I still had time to terminate my pregnancy. Sadly the easiest part of my pregnancy was labor and delivery and I delivered my beautiful baby girl with at least 30 medical professionals (and students) standing in my room. I barely had a chance to hold my daughter before she was immediately taken to the NICU. We had been prepared for her to have immediate heart surgery and they needed to get her examined and into the NICU. I was left in the delivery room and eventually transferred to another floor by myself. I had to wait hours before I was able to go to the NICU.
Somehow, someway, my beautiful daughter defied every odd.
She remained in the NICU for monitoring (and many tests) but she did not need heart surgery. We were eventually discharged and were able to go home. Our first full day at home, I received a phone call from a geneticist who told me that no genetic abnormalities or syndromes were found and my daughter had a clean bill of health. What a relief! About a week later, we noticed the “bruising” from birth was getting more red and raised. Our amazing pediatrician referred us to a pediatric dermatologist and we saw him when she was 3 weeks old. As soon as he walked into the treatment room and asked about my pregnancy and examined my daughter, he told me he suspected she had PHACE syndrome. We ended up being admitted to the children’s hospital directly from our appointment and remained in the hospital while my daughter had MRI’s, ultrasounds, echocardiograms, and started propranolol.
I look back at those times and wish I knew what I know now. My daughter is now a beautiful 4.5 year old who is incredibly smart, hilarious and lives a very happy life! She plays soccer, does karate, and plays basketball at her preschool. She can spell and write her name, read sight words, and do simple addition. She can light up an entire room, make anybody laugh and melt your heart. We still have a ton of doctors appointments and every once in a while that crippling fear comes back and sucks the life out of you after a specialist visit reveals new findings.
Each and every day I am so thankful that I listened to my heart and not the doctors who told me my daughter wasn’t compatible with life and wouldn’t have any quality of life.