15Q24 Deletion Syndrome

We received a call from the genetic counselor yesterday regarding the microarray test of Molly’s genes. She first clarified that they still have no answer or cause for why she has Alobar HPE but they did make an additional finding. Molly has a small deletion of chromosome 15. Only 20 people in the world have been diagnosed with what is called: 15Q24 Deletion Syndrome, Molly being one of them. Our genetic counselor was very clear that this deletion did not lead to or contribute to HPE or her cleft, but is an additional diagnosis to the Alobar HPE. This 15Q Syndrome comes with additional difficulties which can often lead to growth restrictions, delays, feeding and intellectual difficulties.

From here, Jay and I need to decide if we would like to do further genetic testing with the cells that they already have from the amniocentesis. This testing may allow us the possibly learn the cause for her HPE diagnosis and well as see how much of her 15th chromosome has been deleted (which is directly related to the severity of 15Q24 Deletion Syndrome). Another testing option that we could pursue would be testing for both of us as her parents via a blood draw as there is a very small possibility of us passed it along to her. Although it is very slim chance due to the fact that neither of us present any abnormalities as I listed above (ie growth restrictions, etc.)

I have been feeling very discouraged as I hear this news as its yet another diagnosis to process and her future feels even more dim. While we serve a Great and Mighty God, I am leaning into his goodness and peace as I process this because because I’m lacking it on my own. Please pray for both Jaya and I as we process what this means and figure out if further testing is worth the stress and anxiety in exchange for more knowledge.