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Designer Genes

Posted on November 01 2013

Designer Genes
Our daughter Jenna was born in July 2009.  She’s got designer genes and a trademark giggle. This is our story.

Our girl was born at 36.4 weeks and 3-lbs 11.5-oz. After waking from anesthesia, I was brought down to the NICU and saw my husband before I saw Jenna. He had tears in his eyes and he told me how beautiful she was. We looked at our tiny baby and as I counted her fingers and toes (10 each), a nurse adds: “ …and don’t worry about that cleft palate. It can be corrected.”

Our hospital does automatic genetic testing for any baby born with a craniofacial abnormality. While we waited for those results, we learned how to change the smallest diapers we’d ever seen.

Several days later, we received the results of the FISH genetic test and we learned that Jenna had Ring 18. The two geneticists that talked to us explained that it’s quite rare and they referred us to the Chromosome 18 Registry and Research Society. They gave us a print out from the website that described the condition. We peppered them with questions about what we could expect for Jenna. Will she know who we are? Will she walk? Talk? Laugh? Go to school? Have friends? They told us that every child writes their own story….

I noticed my husband perusing the Chromosome 18 Registry website a few days later. I wasn’t ready. It took a while for me, but, eventually, I asked him what he read and saw. He said he saw pictures of little kids and families. When he showed me a few, I saw smiling, happy faces. I read some of the family stories. I read the section about Ring 18 and its major features. At the time, this information was overwhelming. I just wanted to know if she would be “OK”.  

I kept telling myself to "BE BRAVE."  She'll be ok, you'll be brave.

And so, 4-years later, we want to share Jenna’s story. She has an infectious giggle, crazy hair and she looks adorable in her purple glasses. People are drawn to her. She goes to school and the children in her class adore her. They don’t see her chromosomes and ask why one is different than the rest. They see a friend. We see the greatest gift we’ve ever received.

It’s not easy raising a child with complex medical needs and “designer genes”. We found support and education from The Registry and comfort and friendship from the Chromosome 18 families that walk this road with us. 


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