For many years we did not know our daughter Jessica’s correct diagnosis. We did know that the DNA Jess was missing played a significant role in her development. In 2002, when Jessica was 20 years old, we received results that Jess has a rare chromosome deletion (missing piece). We struggled to find another family in the world whose child had the same deletion.
Fast forward nine years, it’s 2011 and I entered a search on Facebook using Jessica’s diagnosis 1Q43-44. Within moments, I found a global treasure. A group of families who have children with exactly or a similar chromosome deletion. It was like meeting new family members.
On this day, families from all over the globe have set their watch so they can meet via Zoom. This will be the first time that I hear their voices and see their faces in real-time.
We are a mixed-aged group from 15 countries, depending on the day of the Zoom. Our beautiful children are as unique as they are similar.
We are meeting to talk about our struggles and share our success. Jessica is the oldest offspring in the group. My husband and I have survived many of the concerns and trials facing the younger group members. I am gaining and providing support to other parents. More important, we are meeting each other’s children and seeing each other’s faces.
I look at the babies and toddlers and see incredible similarities to Jess. I fall in love with their children because they remind me so much of our daughter. I know the struggles that the parents are facing. I want to provide hope and not alarm others with younger children. I am realistic because Jessica has significant delays and disabilities. When Jess was a baby, we also thought that Jess may one-day walk and talk.
This diagnosis does not always dictate the milestones our children will achieve. Many of the children in the group are already walking and talking. There are so many factors that determine milestones that are way beyond my comprehension. But what I do understand is the importance of our group and seeing each other for the first time.
There are so many restrictions and negativity due to Covid-19; but, zooming with our small but mighty group has felt the opposite. Our meetings are filled with smiles, laughter, information, hope and compassion. Would we have considered doing this if not for the whole world experiencing the pandemic? Who knows? But thanks to two savvy grandparents who expertly facilitate and organize our meetings, we reunite each month.
I am delighted to report that on day 137 since the first reported case of Covid-19 that one positive side effect of social distancing is finally meeting Jessica’s 1Q4- cousins and their families.
For more information on 1Q43-44 – or other unique chromosome deletions, visit www.rarechromo.org
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