Matters of the Heart

It's a very surreal experience when you go in for a routine ultrasound and things turn out to be anything but routine. The good news about our ultrasound is we found out we're having a BOY. We chose to find out the sex because of the bigger news we received: Our baby has a congenital heart defect.

After an amnio (which I swore I'd never get) and another ultrasound at a maternal-fetal medicine specialist here in Eugene, they were unable to officially diagnose our baby's problem and sent us to Doernbecher's Children's Hospital in Portland. We had a fetal echocardiogram which diagnosed our son's heart defect as Hypoplastic Left Heart Syndrome.

I'm writing this post for friends and family members so I can share the information we've received over the last few weeks. It's a hard thing to explain over the phone under such emotional circumstances. It's taken me awhile to get up the courage to even post this. I don't mind people knowing about our situation, in fact I think it has helped us to talk to other people about it. At the same time, it's not something I'm likely to bring up in casual conversation. "Oh by the way, our baby has a heart defect." is just not something I see myself saying.

I would love to answer anyone's questions. And we are so thankful and truly appreciate the outpouring of love, concern, and support we've received from our family and friends.

Before I get into the specifics of HLHS (Hypoplastic Left Heart Syndrome), I first want to share a bit of good news: Our amnio results came back this week and our baby's heart defect looks to be an isolated incident (no other genetic defects they look for in the test were found) which means the doctors will go ahead and operate. Apparently there are some genetic problems associated with HLHS (which thankfully our son doesn't have) that are severe enough to make surgery pointless.

Sidenote: I'm not a doctor, any information I provide below is just gleaned from what I've learned. I'm putting things into words that make sense to me. Head here if you want to get more technical details.

What is HLHS? A valve on the left side of his heart did not form properly and is too thick/stiff to let any significant amount of blood to flow through the left side of his heart. Without blood flow, the left side does not have to work and therefore isn't growing. The left side of your heart takes oxygenated blood from the lungs and pumps it to the body.

Right now while he's in the womb, this defect is not causing him any problems. He is perfectly happy in there. All of the normal things all babies have in place to let them grow and thrive without using their lungs in the womb are also allowing him to grow and thrive even when he's not using the left half of his heart. When he is born, those connections will close off and he will not be able to get oxygen to his body without medical intervention.

How do you get HLHS? As I mentioned earlier, there are several genetic disorders associated with HLHS, none of which our baby has. Other factors our doctors asked me about were drug use, smoking, and German Measles - none of which I was personally exposed to. The only other explanation we received is there might have been unknown carcinogens I was unknowingly exposed to during pregnancy - in other words, they don't know. Our pediatric cardiologist was trying to explain that sometimes these things just happen and she literally used the phrased, "foreordained." Our doctor said the risk we had for a heart defect with this pregnancy was somewhere around 1%, and our risk for future children will now be somewhere around 4% just because it has happened with this pregnancy.

The American Heart Association has some interesting statistics on congenital heart defects:

• Thousands of babies are born each year with cardiovascular defects.
• Of these, 4–8 percent have hypoplastic left heart syndrome.
• From 1994 to 2004 death rates for congenital cardiovascular defects declined 31.6 percent, while the actual number of deaths declined 25.4 percent.
• About 650,000 to 1,300,000 people in the United States with cardiovascular defects are alive today.
  

What are your options if you have HLHS? After our diagnosis, the Pediatric Cardiologist gave us four options:

1. Terminate the pregnancy. (This is not an option we considered)
2. Carry to term and do nothing after he is born - He would pass away in as little as a day to a week after birth because his heart would be unable to get oxygenated blood to the rest of his body. (Another option we did not consider)
3. Operate - Our son would have an operation within 24-72 hours after birth called the Norwood Procedure. This is the first in a series of operations (usually 3). The second operation is done around 6-8 months, and the third when he is two-three years old. The ultimate goal of these procedures is to have his body pump blood straight to his lungs, then transfer oxygenated blood to the right side of his heart and allow the right side to pump blood to the body. The right side of the heart will be doing double duty and therefore he will have physical limitations for the rest of his life, as well as a high probability of a shortened life span. He will never have a normal heart. This is a fairly new procedure and they only have patients about 15 years out from the surgery to study. If things do not go well with the operations at any point, there is still the possibility of having a heart transplant (which is the next option).
   
4. Heart Transplant - They do not perform heart transplants at Dorenbechers and we would have to move either to Seattle or Southern California before he is born. He would not get on the waiting list until he is born, and there is no way of knowing how long he will wait. If/when he gets a heart, there is a risk for the rest of his life of his body rejecting the new heart. He would be on medication that lowers his immune system to reduce the risk of rejection. We are still waiting to get more detailed information about infant heart transplants (survival statistics etc.), but since Doernbechers does not perform transplants, we have to go through longer channels to learn things. We will keep you updated when we learn more information. During my personal research online, I came across some washington transplant statistics as well as a more long term graph of survival patients at the Mayo Clinic in Minnesota.
   

Right now Jeremy and I are fairly certain we will go ahead with the surgeries, but we don't want to commit to a decision until we know all the details about a heart transplant. I'm at a loss of words on how to explain the huge amount of responsibility we feel - there's so much riding on this decision.

If anyone has information on how to compare hospitals'/surgeons' outcomes for specific surgeries that information could be very helpful for us right now.

My next appointments are April 21st in Eugene and Portland on the 22nd where will have follow-up fetal echocardiogram at both. Right now I'm considered a high-risk pregnancy and will have around four appointments a month, with even more per month as we get closer to delivery. His heart is still growing so they cannot say for sure what he will need and they want to keep an eye on his condition.

I just want to express again that we are so very grateful for the thoughts, prayers, advice, concern, service, support and general outpouring of love we have felt from all of our friends and family we've told about our situation. We love you all and will update you with new information as soon as we receive any. When Jeremy and I decide on a name, I am thinking of making a blog specifically to keep people updated about his condition.