Changes and Challenges
A little over a month ago we began sharing the exciting news that the Miller family is growing; we are expecting our third to arrive in March 2022. We are looking forward to the day when everyone gets to meet this new little one, however we wanted to share with you some of the challenges we are facing with this pregnancy. If you are reading this it is likely because you are our family, friends, or part of our church community, and we want you to know what is going on.
Right around the time we started telling our close family and friends about this pregnancy, our primary OB expressed some concerns following an ultrasound and ordered a battery of genetic tests. Those tests indicate this child has a 91% likelihood of having trisomy 21, the genetic condition commonly known as Down Syndrome. Without going into a ton of detail, it should suffice to say that Down Syndrome is a genetic condition that typically has a profound impact on the individual. Like with almost any condition, the impact on each person is unique, however there are certain health challenges faced by many individuals with Down Syndrome.
Following this suspected diagnosis (it won't be confirmed until after birth), our local medical team here in Springfield ordered additional scans, specifically to look for heart defects, as 50% of individuals with Down Syndrome have some kind of congenital heart disease. These scans, first with our primary OB and then with a maternal-fetal medicine specialist, indicated the likely presence of some kind of heart defect. A number of possible situations was discussed, ranging from relatively minor to terrifying. We were referred to Children's Mercy Hospital in Kansas City, MO for additional evaluation.
This past Friday (December 10, 2021) we had our first appointment with the Fetal Heart Center at CMH. They began by conducting another fetal echocardiogram, where ultrasound is used to take detailed pictures and videos of the heart, blood vessels, and blood flow. We then met with the head of the cardiology department, along with a number of other doctors, nurses, and staff. We discussed how a typical, healthy heart works, what is different in our child's heart, and what the likely next steps will include. So, here is what we know at the moment:
First, the good news: they found no evidence of a condition called "Tetralogy of Fallot" - a very serious condition where there are multiple "plumbing" issues (mis-formed and mis-placed blood vessels connecting to the heart) combined with internal defects in the heart itself. This was a big fear of ours, as it was one of the suspected conditions they were looking for, and it involves a very complex surgery to rebuild the heart and most of the connecting vessels.
However, they have confirmed that the child has a heart defect. The working diagnosis is a condition called an Atrioventricular Canal Defect, or "AV Canal" for short. This is a serious heart defect that affects about 25% of individuals with Down Syndrome. An individual with an AV Canal Defect has three issues in their heart:
A hole between the upper chambers of the heart (an "Atrial Septal Defect")
A hole between the lower chambers of the heart (a "Ventricular Septal Defect")
A mis-formed valve between the upper and lower chambers.
It is the third issue that presents the biggest challenge. In a healthy heart, there is a valve between the upper-left and lower-left chambers, and another valve between the upper-right and lower-right chambers. In a heart with AV Canal Defect, there is a single, common valve between all four chambers. This causes a number of issues, including improper pressures in the circulatory system and mixing of oxygenated and de-oxygenated blood. Left untreated, an AV Canal Defect can lead to lung damage, heart damage, and improper function of other vital organs.
This is a VERY simplified explanation of the condition. If you want to know more (or if, like me, you don't remember ALL the details from high school biology class), I would encourage you read this article on how a healthy heart works and then read this article on AV Canal Defects.
Thankfully, AV Canal Defects are usually able to be repaired with surgical intervention. The likely plan for our child will include open-heart surgery about 3-6 months after birth. During this surgery the team at CMH will patch the two holes and, using the tissue from the current single valve, they will construct two valves, allowing for normal blood flow and pressure.
Additionally, there are two other possible issues that might need a temporary surgical fix prior to the full corrective surgery - one to protect the lungs and one to protect the aorta. They are watching both, but we won't know for sure if one or both procedures are needed until after birth. If one or both are needed, they would happen within the first 1-4 weeks after birth.
I would be lying if I said I wasn't worried about what is ahead of us these coming months. We now know for sure that our child has a serious heart defect that will require major open-heart reconstructive surgery to fix. The presence of this condition also tends to corroborate the likely diagnosis of Down Syndrome, which comes with a host of other challenges. However, amid the challenges, there is much to be grateful for.
Thanks to the genetic testing and attentive doctors, we know about this now and can put a plan together to make sure this child has the best chance of leading a happy, healthy life.
Thanks to modern surgical techniques (and access to a top-flight children's hospital), the prognosis is very positive. Most children with an AV Canal Defect are able to do most things other kids can do.
This particular heart defect is relatively common, meaning the cardiologists and surgeons have a lot of experience in how to best care for kids with the condition.
In the months to come I would personally ask for your prayers, your grace, and your love. We will do our best to share updates when we have them, but this is an emotionally draining situation and we won't always be up to it. If we are slow to reply, please understand we are guarding our own physical, mental, emotional, and spiritual wellbeing, along with that of our other two children.
We are so grateful for you; thank you for being part of our lives! We can't wait for you to meet this new member of our family when the time is right. I know you will bless them, and I trust they will bless you, too.
Peace,
Chris