One Rare Disease Leads to Discovery of Another in Alexandra

Alexandra Mae Edges was born with Heterotaxy Syndrome and complex congenital heart defects.

Heterotaxy Syndrome only occurs four our of every million births. At five days old she had her first open heart surgery. Since then she has endured four other heart surgeries and one abdominal surgery. After her third open heart surgery Alexandra developed a complication from her condition called pulmonary arteriovenous malformations.

It caused her oxygen saturations to be much lower than anticipated, and caused her half a heart to have to work much harder than it should. After an unsuccessful fifth heart surgery, it was decided that Alexandra needed to go to a medical center with more experience in this condition, and she was sent to Boston Children’s Hospital for further evaluation.

While getting records together, her doctors discovered a very rare condition, called Abernethy Malformation, or congenital absence of the portal vein. Since 1797, only 80 cases of Abernethy Malformation have been reported. This new discovery helped the doctors to figure out that this was what was truly causing her lung issues and she was sent to Yale for a liver transplant evaluation.

Unfortunately, she was denied because of the functionality of her heart, and it was felt she would not survive the surgery. It was believed that Alexandra could possibly have a combined heart and liver transplant, but soon it was discovered through the amazing doctors at Boston Children’s that a new heart would not be able to handle the low oxygen saturations that her lungs would provide.

After two liver transplant no’s, a heart/lung transplant was discussed, but she is not a candidate because of her liver. In all actuality Alexandra needs a 4 soild organ transplant, which has never been done before on a child like her. At this point, Alexandra is just being monitored closely, and waiting until her condition becomes a very critical situation, but eventually, she will succumb to her condition.

Regardless of her setbacks, Alexandra is a lively, spunky second grader. She rides horses, loves to draw and paint, and spend time with her sister Aria. Alexandra is not going to let her rare condition stop her from living the life she wants to live!