The Story of a little boy born with Heterotaxy Syndrome
My pregnancy has been really hard from day. I suffered from Hyperemesis (really bad morning sickness) for 6 months. Hyperemesis is where you literally can not keep any food and very few liquids down. I would throw up 15 times a day. I was like having a really bad stomach flu for 6 months. It really sucked. I lost weight, had to go to the hospital for IV fluids, pretty much had to lay around the whole time because any movement I made would make me throw up. I was so terrified that I was hurting the baby by not giving him the nutrition that he needed. I kept telling my OB that he can’t be healthy when I feel this horrible. However, it turns out that Hyperemesis doesn’t affect the baby the baby takes whatever it needs from me even at my expense and there is some research that shows that babies are healthier and less likely to miscarry when Mother has bad morning sickness. But because I was so concerned my OB sent me to see a high risk specialist to do a level ll ultrasound (a detailed look at all baby parts) to reassure me that everything was fine.
So at 18 weeks at this ultrasound was when we got our first suspicion that something wasn’t right. The ultrasound tech had the Dr. come in and he stared at the heart for a long time and then finally said he could not get a 4 chamber view of the heart. He said it could be because the baby was only 18 weeks or because he was in a bad position. He said to come back in a couple of weeks when the baby was a little bigger to know for sure what was going on. I knew something was really wrong. I knew that it wasn’t positional my gut told me something was really wrong. The next day I called my OB and said I wanted him to do an ultrasound and take a look. He and an ultrasound tech also couldn’t find a four chamber view and we were told that he was in a perfect position to get it if they were going to get it. They thought it looked like for some reason that the right side of the heart looked extremely underdeveloped but they weren’t sure so that is when we were referred to Dr. Patel at Akron Children’s Hospital. Dr. Patel is a fetal cardiologist and has a special machine that is set up to look at the heart very closely. We had to wait two weeks to get in with him which was the longest two weeks of my life.
We were warned by several people that Dr. Patel would not talk during the echocardiogram because he was concentrating very hard and not to be concerned by how quiet he would be. Boy they were right. It was deathly silent in there and the room was dark and I was told to try not to move and it seemed to take forever. We were told that this test could take anywhere from 20 min. to 1 hour. So we were watching the clock like crazy. When the appt. was going on for over 1.5 hours we knew it was bad. The whole test took 2 hours and then him and another cardiologist took us into a conference room to give us the diagnosis. I was worse than we ever could have imagined. Actually, in Dr. Patel’s own words our baby has the most severe and complex heart condition you can have and it is called Heterotaxy with Right Isomerism. Here is the email I sent out the next day to my friends and family to explain. I only wanted to tell this story once.
Well, I had a follow-up appointment with a fetal cardiologist at Akron General today and the final diagnosis is worse than they even suspected. It is not even a hypoplastic heart. It is worse. The name is called Heterotaxy syndrome with Right Isomerism. With Hypoplastic left/right heart one of the bottom ventricles is either too small or not there. With heterotaxy there is only one ventricle and one upper chamber. The reason you need two chambers and ventricles is so that one is oxygenated and one isn’t. well, Logan’s heart (yes, we named him) the oxygenated and deoxygenated blood is all mixed together. Also, he has a no spleen, an enlarged liver in the wrong spot, and a stomach in the wrong spot. The doctor said that this was the rarest heart defect you can have and also the worse. Apparently at 5-6 weeks when everything begins to split into the ‘two halves of our body’ Logan’s body didn’t do that. The left part of his heart never developed and the spleen is associated with the left half of the body so that’s why that is missing. That is also why his stomach and liver aren’t in the right places because there are no right and left sides to his body cavity.
The prognosis is not good. 5-10% of these babies die in utero. Then another 25% – 50% of these babies’ pulmonary artery closes off in utero and then when they are delivered the mortality rate is 85-95%. If the pulmonary artery does not close off and the baby does not die in utero the baby will have a 50% of living. The worst part of this whole situation is that for this disease they don’t do the surgery for 1-3 months after delivery. So I will have gotten very attached to Logan before he has to have the surgery where there is only a 50-50 chance he will survive. The doctor said he thinks the pulmonary artery looks really good and he is ‘very optimistic’ that is won’t close off in utero. They are going to be watching the pulmonary artery very closely (practically every other week) to see if it is shrinking or not. If it doesn’t close off I will deliver in the area and then go out-of-state for the open heart surgeries. As of right now we are not talking about termination. At this point I would have to deliver the baby anyway so why wouldn’t I give Logan a chance. They did say though, that if they did not think that they could fix the baby after delivery that they would discuss with us not doing anything and letting nature take its course.
I am incredibly sad, incredibly angry, and totally overwhelmed by all of this.
The following weeks and months I was beyond devastated and depressed. You never think something like this would happen to you and it is an overwhelming amount of emotions to deal with. I tried to keep busy I compulsively baked (brownies, muffins, cakes, pies) for weeks. I just wanted everything to go away. Then I started to scrapbook. I started a daily scrapbook/journal about our life and this journey and that turned out to be a life saver for me. I began to take daily pictures of our life and journaling about everything. It has been very time consuming and a great outlet for me. Scott and I also decided to take a vacation to get a way for a while which also helped me relax.
A family affected by three generations of Heterotaxy Syndrome - an extremely rare laterality disorder that affects only four people in a million. In our family it affects my three children, my grandchild, and myself.