Delivering Babies with Genetic Disorders – Laura’s Birth Story

Birth Stories

We tried for several months to get pregnant, after taking several tests in December (all negative) we decided we would wait another year and try again later. It was Christmas Eve and while getting ready for bed I thought to myself, this would be the best Christmas present if I took a pregnancy test and it came back positive. While brushing my teeth not even five seconds later our test came back positive! It was the best Christmas present we could ever imagine.
Something didn’t feel quite right with my pregnancy but I kept thinking I was just being paranoid. At eight weeks we met with Dr. Ollerton and got to see our baby for the first time on ultrasound and all was well. We talked about the new testing they do for the gender and the other things it tested for, but I didn’t think much about testing for trisomies. All we wanted was to find out the gender!
We were on vacation in Disneyland when I got the phone call that our testing had come back. I called Dr. Ollerton where he told us we were pregnant with a baby girl! I immediately started to cry. I wanted a girl my whole life. He then told us that our test came back positive for down syndrome. I don’t remember much of the rest of the conversation, but Dr. Ollerton was so kind to us. He made sure to check on us to see how we were doing the next day, and made sure we had an appointment with him when we got back.
Our visit after finding out our baby would have down syndrome was hard, but we couldn’t have asked for a better doctor. Dr. Ollerton had nothing but good and positive things to say. It was so comforting to us knowing our doctor fully supported us. He talked us through our next steps that would happen and let us know that we could call him if we ever felt like something wasn’t right.
We met with maternal fetal medicine at 15 weeks were they looked over her and found one marker for down syndrome ( a bright spot on the heart). They talked to us about how they couldn’t confirm whether or not she had it, so we opted for an amniocentesis. We got a phone call three days later confirming she did in fact have down syndrome. A week later the geneticist called to tell us our baby has the rarest form of down syndrome called mosaic down syndrome. Not every cell in her body would have the extra copy of the 21st chromosome. She couldn’t tell us much about it because it is so rare.
Over the next couple of months we met a lot with MFM. We would get ultrasounds about every five weeks, and she always looked perfect! At about 23 weeks we met with a fetal cardiologist from primary children’s for her heart (since heart defects are very common with down syndrome) and we were so happy to find her heart would be perfect!
I have chronic hypertension, so my pregnancy was monitored very closely. At 32 weeks I started bi-weekly non stress tests, along with lab work and an ultrasound once a week. At 34 weeks my labs came back with mild pre-eclampsia, so we started steroid shots and set up an induction for 37 weeks.
The day of my induction was perfect and emotional. My pregnancy was finally coming to an end, and we would finally get to meet our baby girl. I got my epidural as soon as I got to the hospital, and then we waited. Dr. Ollerton came to check on me and I was dilated to a two at about 9am. By noon I started to feel a little bit of pressure. They checked and I was dilated to a five. Less than 20 minutes later, I felt like I needed to push. I was dilated to a ten and it was go time. She came into this world after only two contractions. We named her Ellie. She was 5lbs 11oz, and 16.5″ long. She was perfect. She showed no physical markers for down syndrome, but after another blood test it was confirmed her blood came back 45% had the extra 21st chromosome.
Even though we had a very stressful pregnancy, we could not say better things about Dr. Ollerton and the support he showed us.
We can’t thank him and his staff enough for making us feel like they cared, and we weren’t just another patient, we felt like family.

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