It is our ninth day of Down Syndrome Awareness Month! Today, three-year-old Porter’s mom, Danielle, tells of her interactions with the genetic counselor as she first learned of her son’s diagnosis. Danielle writes at The Many Adventures of Penny and Porter and can be found on Instagram at @mammat10.
We had our twelve week ultrasound on a Friday. The tech and perinatologist gave the baby a clean bill of health. We told family and friends that weekend. We were riding high on the bliss of being able to give our daughter a sibling. We made her a big sister shirt and asked her if she thought the baby would be a boy or girl.
On Monday morning, a representative from Genzyme left me a voicemail. I returned their call immediately, but it took them eight hours to call me back. When they did, they told us our baby had a high risk of having either Trisomy 21 or Trisomy 18. We wanted to be prepared at the birth, so we had an amnio. If our baby had minutes or hours to live, we wanted our family there. The genetic counselor called me at work and said “I’m sorry, but your fetus has Down syndrome.”
We weren’t sorry. It meant our daughter was going to be a big sister. It meant another person would call me mommy.
The genetic counselor shared so many negatives with us. She didn’t tell us about the amazing Trisomy 21 Program at CHOP that would become such a resource to our family. She didn’t tell us about Buddy Walk, an event that would carry more excitement than our son’s birthday each year. She didn’t tell us about the local Down Syndrome Interest Groups that would help us learn from the most amazing families. She didn’t tell us about the Down Syndrome Diagnosis Network Rockin’ Mom’s Group that would link me with moms whose children were the same age as our son, who would share advice and be just a message away for support. And, she didn’t tell us about the love, the way this little boy would bring our family together and make us stronger. The genetic counselor missed the boat. I wish she could know Porter. We’re so happy he’s ours!
Click below to read all the stories from Down Syndrome Awareness Month!
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