When I look at Brenna, I am struck by how truly unique she is. I can barely comprehend the chances of her being created just as she was.
Harlequin Ichthyosis is caused by a mutation in the gene ABCA12. Everyone has this gene and receives one from their mother and one from their father. Evan and I met with a genetic counselor last week to discuss this gene and what it means for us in the future.
Here's how I understand it: In about 93 percent of cases of Harlequin babies, the baby receives two recessive (mutated) ABCA12 genes from the mother and father. There is a very, very extremely small chance that it is just a random mutation that occured.
Most likely, both my family and Evan's family have had this mutated ABCA12 gene in our families for decades and passed it through many generations. Then, Evan and I got married and brought our mutated genes together :)
Brenna's DNA is currently being studied by the only lab in the country that will analyze this particular gene. It will take about eight weeks, because the genetic counselor said it's "a pretty big gene."
What they will do is analyze the entire code of both of her ABCA12 genes, looking for a specific "error." Once they figure out the error, they can then go straight to my blood and Evan's blood to search for this same error in our genes. In the most likely scenario, they will find the same errors in all of our genes, meaning that Brenna received one recessive gene from me and one recessive gene from Evan, causing her to be born with Harlequin Ichthyosis.
So, if this is the case as we are assuming now, every one of our babies has a 1 in 4 chance of being created with this disease.
The chances of both Evan and I having this recessive mutated gene? Literally one in a million. When we learned that, I looked at Evan and said, "I always knew we were special together."