In early September, at our 25 weeks gestation sonogram, Sean and I heard the news no parents should ever have to hear. "There's something wrong with your baby's heart." We weren't really told anything in addition to that. Instead we were told that an appointment would be made with a pediatric cardiologist to diagnose and investigate the issue with our baby's heart. After preforming a fetal echocardiogram, the pediatric cardiologist subsequently referred us to Vanderbilt for more specialized care and confirmation of the diagnosis. The fetal cardiologist at Vanderbilt confirmed what the doctor her in town suspected. Pulmonary Atresia with a Ventricular Septal Defect. If that wasn't bad enough we were told that she may also have other birth defects including an upper airway obstruction or laryngeal atresia, and/or a chromosomal disorder.
In a couple weeks we will return to Vanderbilt to have an MRI. The MRI will investigate the potential airway obstruction. If there is an obstruction, things will become much more complicated for our little one. The pediatric surgeon stated that babies with either of these disorders have a hard time, and the combination doesn't bode well in terms of prognosis. If she does have the obstruction Sean and I will have to relocate to Nashville as we will not be able to risk going into labor away from Vanderbilt. She will have be delivered via what's called an EXIT procedure- meaning she will have to have a surgical intervention to establish an airway while she is still connected to her placenta. Her heart defect will only complicate this procedure.
We won't know until she is born whether or not she has a chromosomal disorder to top it all off. The chromosomal disorder she is at risk for is call DiGeorge Syndrome. It was described to us as spectrum disorder that has a wide range of severity. Most of the time it affect mental and immune function. The last thing our little Avie needs is to be immunocompromised.
All of this has been quite difficult for Sean and I to process and handle. There are still so many unknowns. We don't know we'll get to bring our baby home, and if we do get to bring her home if we'll ever hear her sweet voice or laughter. She has the potential to be quite ill if she does make it through. However if she only has the congenital heart defect than her prognosis is positive. She will face have multiple open heart surgeries (the first couple being in her first 6 months of life) in her life but she should grow to be a happy, relatively healthy child with the appropriate interventions and care.
Please keep our sweet Avelyn Marie in your thoughts and prayers. She needs all the support she can get.
I will do my best to update this blog as time progresses and we learn more. I want to keep all friends and family who love us updated, but have found it taxing to contact everyone individually.