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"I've already been to Holland"

by Nancy Whipple

We found out we were pregnant in February 2013. We were excited, but a little crazed because we had a daughter that was just 7 months old at the time!! Because of my “advanced maternal  age” of 41, I was sent to the Maternal Fetal Health Doctors at Winchester hospital for my ultrasounds. I did the blood work, and went for the 12 week or so ultrasound. The tech left, and  the doctor came in. I was waiting for the “everything looks great, you are at risk like a 21 year old” as had been the case with my previous two pregnancies. However, instead, she came in and said “we have to talk about the ultrasound”. She said they found a very large cystic hygroma on the babies neck. I asked about the blood tests, and she said they didn’t matter because of the ultrasound. She said a bunch of other things, I don’t recall (it was a blur!) and handed us a piece of paper. It explained that they baby could have A. Down syndrome. B. Turner’s Syndrome or C. Trisomy 13 or 18 which are “incompatible with life”. She then sent us on our way. When we were in the car on the way home, my husband turned to me and said “I don’t want another angel”. You see, this baby would be our 3rd child. We lost our son Alexander on April 1, 2011 after a 13 month battle with Neuroblastoma, a kind of pediatric cancer. 

Needless to say we were in shock. We had already taken that unplanned “Trip to Holland” and we didn’t want to go on any more adventures! My regular OB called me that night and we talked for a little bit, but I had an appointment the next day. She had been my OB for my previous pregnancies (including an early miscarriage before Alexander) She knew that no matter what we would not terminate the pregnancy, and she said she would help us however we needed. I asked how bad it was, and she said the cystic hygroma was very large, and she did not feel good about it. She looked at her report and said it was 6 cm big. My husband thought about that for a minute then asked “how big is the baby?” (I was only about 12-14 weeks along at this point) She looked at the report again, and then got up and made a call. There was a misplaced decimal point! It was only .6 cm! Still large, but not larger than the baby! She suggested we do the non-invasive blood test (maternit21). I met with the genetic counselor a few days later and took the test then. I remember it was the day the new Pope was elected, because I was watching the news while I waited for the test to be taken. 

She called us about a week later and told us that it was positive for Down syndrome. She asked if we wanted to talk about “termination or adoption” and we said absolutely not. We decided to switch to a High Risk doctor that would allow me to deliver at Tufts Medical 
Center. Our son had been treated at Floating Hospital for Children and we were very happy with the care he received. I started to see one of their high risk doctors for my ultrasounds. During one visit, I asked “this test is 99% accurate right?” he said “yes, but it isn’t 100%” I don’t know why, but that made me feel very good about this doctor, that he wasn’t going to dismiss me or my baby, and he wasn’t going to push me toward termination. 

As we had additional scans we discovered that our baby (we did not want to know the gender!) also had a hole in her heart. This really confirmed for me that she did indeed have Down syndrome. We would eventually go to Children’s Hospital in Boston, and I ended up delivering at Brigham and Woman’s to be closer to Children’s.At some point, we had another meeting with the genetic counselor to talk more in depth about the results and learn a little more about Down syndrome. She gave us some information including information about the MDSC. I started looking at the website, and finding it helpful, but also not wanting to look too much, because I was hoping it was all just wrong and we would fall into that 1% of false positive! But, I did eventually contact Sarah Cullen. She sent me books and information that was very helpful. She also set me up with a First Call. Well, it was a first “meet and greet” really as I preferred to do it in person! It was nice to be able to sit down with someone and talk. She told me about the Morning Traveler’s group and I connected with them on Facebook, and I went to one of the play groups before the baby was born. That was helpful too. Sarah arranged for a “pre-natal” get together. It was very nice to meet some other families that were waiting for their little ones to arrive!!!! 

Elizabeth Helana was born on September 21, 2013 – about 2 weeks early! I was able to spend a few minutes with her before they whisked her off to the NICU. She spent a week in Boston, then a week closer to home in Winchester Hospital. She was a very quiet, but happy baby. She was not growing as well as they would have liked, and I had to give her increased calories. Because of that, the doctors decided that she would have to have the surgery to fix her heart sooner than later at just 6 weeks old. This was hard for us in so many ways! She would have her surgery at Children’s Hospital in Boston. While our son was treated at Floating Hospital, he actually died at Children’s hospital following a surgery. Needless to say, I had some PTSD going on! 

However, I did have many fellow “zipper club” moms reassuring me, and Sarah Cullen hooked us up with the Heartbeats for Down syndrome group who brought us an awesome care package. Elizabeth was in and out of the hospital in one week! We were amazed at how fast it was!!! She recovered at home very well, and was off her medication within a few months. She is now almost 1 year old. She is doing awesome! She passed her hearing and eye tests with flying colors. We take her to the Down syndrome clinic at Mass General Hospital and we are very pleased there. She has early intervention twice a week and is doing awesome. She enjoying seeing her friends at the Morning Travelers group as well as the New Family Socials. Her and her daddy took the baby massage class and had a lot of fun there. 

We are very grateful to the MDSC for all they have done for us and our family! 

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