April 18th is World Tetrasomy 18p day, because those with Tetrasomy 18p have 4 copies of the P portion of Chromosome 18. I had never heard of Tetrasomy 18p until the geneticist at Boston Children’s Hospital told me our daughter was one of around 250 cases known worldwide.
To say your world is turned upside down, when you receive a diagnosis like this is an understatement. We had been chasing down answers with multiple specialists for months as to why she had trouble swallowing thin liquids. I received a call on a Monday morning saying our geneticist wanted to schedule an appointment with both parents and was offering an in person visit. My heart sank. I had until Thursday night when we scheduled a virtual appointment for my mind to go through a million scenarios. I bargained with God and the Universe and told myself that as long as it wasn’t fatal or degenerative, we could handle it. On Thursday night we were told that The Chromosomal MicroArray revealed that she had additional DNA material and a condition called Tetrasomy 18p. It explained other things like developmental delays and funny quirks that we now know are common with those who have Tetrasomy 18p. We learned that there was no way to predict this, it’s not inherited, and it’s often missed on prenatal screenings.
We were immediately introduced to other families, support networks, and the Chromosome 18 Registry and Research Society. It’s founder is a mom who realized there wasn’t enough information out there, so 30 something years ago after her daughter was diagnosed she went back to college and became a research scientist. Because that’s what parents do. And in that same spirit, our days, nights, and priorities have been overhauled. I have made numerous phone calls, filled out mountains of paperwork and fought with insurance and other agencies to make sure she is getting the best possible foundation. Suddenly your priorities change and you don’t have the time or energy to worry about certain things.
More than ever, I have learned to be okay with the unknown. I’ve thrown out the developmental milestone chart and started to plan for what our lives might be like in 30 years. I’m grateful that through radio I’ve met people with disabilities living full lives and been exposed to organizations that make it happen. I’m forever indebted to the parents of children with special needs especially those in the Chromosome 18 community who pm’d me and video called me with much needed advice and the type of sarcasm that no one else would understand.
The symbol of Tetrasomy 18p is a butterfly because although people with Tetrasomy 18p can be very different when it comes to abilities they all have one thing in common…They are social butterflies. My daughter has a million watt smile, a vocabulary of different laughs, and the ability to make strangers stop and interact wherever she goes.
I’m excited to watch her grow up and celebrate every inchstone and milestone she accomplishes. My husband and I have always been “overachievers” doing more than what others thought we were capable of and now we know she’s got a little extra of our “overachiever” DNA. She is certainly writing her own story of what it means to have Tetrasomy 18p.
About Rebecca Romo
