It’s been over eighteen months, but I can still remember every detail of the day we received Penelope’s diagnosis. It was a cold day in early December. I was wearing a black tunic and leggings (this was basically my post-partum uniform). I went into the appointment feeling fairly certain that we were about to be told there was no genetic cause for her microcephaly. As we got settled into the meeting room with the doctor, Penelope began to fuss a bit, so I started nursing her. And as I held her little body in my arms, I heard the words that changed our lives: “The test results have shown that Penelope has a chromosomal deletion, and unfortunately, it is a large one, with many genes affected.”
There was a loud ringing in my ears and a lump in my throat as I tried to process that. I felt disoriented and the tears began falling freely. I was shocked, overwhelmed, and devastated. And when we were told that she was likely the only known case with this particular deletion, the feelings of isolation set in.
A rare chromosome deletion is a very lonely diagnosis. There aren’t multiple networks of information and support like there are for parents of kids with Down’s Syndrome or cerebral palsy. There are no “10q23.31-24.2 deletion” fundraising runs. There is just you and your child and a lot of fear and anxiety about the future. There is no prognosis, because no one has ever seen this condition before. There is a lot of being told, “We just have to wait and see how she does.” I now detest that phrase. I want answers, dammit! WIth a rare chromosome deletion, however, answers are not readily available. But chromosome disorders as a whole are actually not all that rare- did you know that approximately 1 in 200 babies will be born with some kind of chromosome abnormality? Sometimes the abnormalities aren’t picked up until adulthood and sometimes they have no known clinical significance. And other times, like in Penelope’s case, the physical manifestations of the abnormality are present from birth.
June 7-13th is Rare Chromosome Disorder Awareness week. If you want more information on rare chromosome disorders, there is an organization called Unique that is a great resource- check it out. And share this post- I want other parents who have a child with a rare chromosome disorder to know that they are not alone. WE are not alone and we can support one another.