The story of Apryl
When my son was born he had three holes in his heart. Ten years later we finally lived in a big city and did genetic testing of our son, my husband, and myself.
I don’t know what we were expecting, but the results came back that not only did my son have Alagille Syndrome but I do too. He was ten and I was 46 and we had no idea.
Alagille Syndrome is typically a liver disease, but it can affect the kidneys, brain, spine, heart, and facial features. Alagille Syndrome, also known as ALGS, is usually caused by the Jag 1 gene but for my son and I it is caused by a partial deletion of the Notch 2 gene, which my son got from me.
My son has the facial features of a kiddo with ALGS but his cardiologist says his heart defects maybe aren’t even caused by ALGS.
For now, we just exist, we are lucky, no liver transplants or itchy skin for us. However, we are in the like 1-2% of ALGS patients as the Notch 2 partial deletion is extra rare. So here we are, being rare and not even knowing it for so long!