Hearing a child exclaim, “I’m having fun! I’m really having fun!” while out hiking is such a wonderful thing to hear. Knowing that it is the first time they have been able to walk more than a few feet without becoming exhausted makes it even more sweet. Children like Ethan, who was born with Heterotaxy Syndrome, have a much different experience than other children who venture outdoors to play.
Ethan is two-and-a-half and lives in New Jersey with his sister, Zoe (four years old), and parents Ali and Philip. Ali was overjoyed to watch Ethan on his first hike after his recent surgery (his fourth open heart surgery). Continually looking back at her and beaming, Ethan explored more of the trail than he ever had been able to before.
Ali is a pediatric nurse and worked in the Pediatric Intensive Care Unit (PICU) for two years before leaving her job to live and work on a hospital ship as part of an all-volunteer crew sailing up and down the west coast of Africa, providing free surgical care and health care development. On board, she was the head nurse for head and neck reconstructive surgery. Her medical training would prove to be beneficial in the care of her son.
During a routine ultrasound at 25 weeks, Ali heard words that every parent dreads. “I’ll never forget the way the doctor’s voice sounded when she leaned toward me and said, ‘This will be hard to hear.'” Ali learned that there were critical congenital heart defects and was given a diagnosis of heterotaxy syndrome. She also was told that the baby was a boy. “Suddenly, the name we’d chosen before I ever got pregnant was absolutely perfect: Ethan. It means ‘strength,'” explained Ali.
Ethan means “strength”
According to Ali, “Ethan is an old soul, unsurprising given all he’s been through. He’s a quiet kid when he’s around his sister, preferring to let her take the spotlight. But get him on his own and his funny side comes out!” She also described how brave he is, which helps him work through his fears and face painful procedures with strength. “He loves mac-and-cheese and curried anything, can’t sleep without his Tula blanket, and is obsessed with animals of all shapes and sizes,”Ali described. “He’s rarely to be seen without a stick or two in his hands!”
Ali has become proficient at explaining what heterotaxy syndrome is and how it affects her son.
“Heterotaxy syndrome is a broad, umbrella term for any of a myriad of what are known as “laterality defects”. Basically, when the baby is forming in utero, there’s a time when the two halves of its body are rotating together. When that rotation “glitches” (for lack of a better word), it can result in a wide spectrum of defects in which the internal organs are either malformed, misplaced, multiplied or missing altogether.
Some people with heterotaxy simply have their heart on the right side of their chests and no other issues; and some, like Ethan, fall on the more severe end of the spectrum. He was born with two left lungs, a right-sided stomach, liver and gallbladder right in the middle, five or so spleens (all of dubious function) and congenital heart defects listed here:
- mesocardia (his heart is right in the middle of his chest)
- complete unbalanced AV canal (his heart was missing the entire wall between the top chambers and most of the wall between the bottom chambers, and because of the way the rest of his circulation was set up, it favored the right side, which meant that his left pumping chamber was underdeveloped)
- common AV valve (instead of two valves separating the top chambers of his heart from the bottom chambers, he had one big valve that stretched across his whole heart, and one side of it was deformed)
- pulmonary atresia (he was missing the valve that makes the connection between his heart and his lungs)
- double outlet right ventricle (instead of his pulmonary artery leaving his right ventricle and his aorta leaving his left ventricle like they should, both of those large arteries came off his right ventricle)
- transposition of the great arteries (not only did they both come off the right ventricle, they were flipped in position from where they should have been)
- interrupted inferior vena cava with azygous continuation to a left-sided SVC (the large blood vessel that brings blood back to his heart from his lower body basically dead-ends somewhere in his belly. Thankfully his body compensated in a cool way and grew a normally-small vein to a really big size, rerouted the flow through that, and dumped it all into the vein that’s responsible for bringing blood back from the top half of his body. That vein also happens to be on the wrong side as well. There’s a theme here…)
- They also think that he has a condition known as PCD (primary ciliary dyskinesia), which is a cousin to cystic fibrosis and is common in heterotaxy kids, but he hasn’t had the formal testing for that yet.
“Heterotaxy is sometimes linked to a set of genes that have been identified as causative, but it can also occur spontaneously. It likes to keep things interesting.
“We don’t have great numbers for survival rates, simply because our kids fall on such a wide spectrum. Around 1 in 10,000 babies are born with heterotaxy, but virtually no two patients are alike. Imagine taking 100 different birth defects, putting them in a hat, and drawing out 10-20 of them. That’s heterotaxy.
Ali continued to explain life with heterotaxy. “It makes it very hard to ensure that our kids are getting the best possible treatment because there’s no such thing as a doctor just for heterotaxy. We just have to seek out the ones who are most well-versed in our kids’ unique set of issues. For us, that means traveling to Philadelphia and Boston for treatments, consult, and surgeries. Ethan was born in Philadelphia and had his first two open-heart surgeries there (6 days old and 4.5 months), and then we transferred his surgical care to a team in Boston who are doing pioneering work giving heterotaxy kids like Ethan with really complex hearts the chance at having four fully-functioning chambers rather than the half a heart that everyone else could offer us.”
Dr. Alistair Phillipsis, who is the co-chair of the American College of Cardiology’s Surgeons’ Council and is also the co-director of the Guerin Family Congenital Heart Program at Cedars-Sinai Medical Center in Los Angeles, has not personally cared for Ethan, but he offered his expert opinion on how patients with complicated medical issues should remain active while under a health care provider’s care:”
“Ethan and [his] family enjoy getting outside and going for a hike. Even though he has gone through a lot in [his] short life with having Heterotoxy Syndrome, a form of congenital heart disease, he is going to benefit with regular exercise as all of us should. With all of us, it is important to not overdo it and overexert ourselves. Ethan will have some limitations with regards to achieving peak exercise, but moderate exercise will be very important for him. He was born with 2 left lungs, an underdeveloped left ventricle, a single common valve in his heart and only one outflow from his heart. The venous return (blood return to the heart) is also on different sides as most of us. Ethan will need to be seen by a congenital specialist regularly; however, he should be able to enjoy a full and filling life, and exercise should play an important part of his life.” – Dr. Phillipsis
Day to Day with Heterotaxy
Ethan’s parents must monitor him frequently for fevers and make sure he takes his medication three times a day. “If he ever gets a fever higher than 100.4 degrees, he has to go to the ER for a full sepsis workup and a dose of IV antibiotics, “explained Ali. “And then depending on how his labs look, we might get admitted to the hospital to wait for his cultures to grow.” His medications include diuretics and blood pressure medications to reduce the workload on his heart, blood thinners because he has a donated valve and artery as part of his circulation to make sure his body doesn’t form clots there, and prophylactic antibiotics, which he will be on for life. “He also needs frequent breathing treatments and chest physiotherapy to help him break up and cough out the junk in his lungs,” Ali said.
The winters can be hard. Because of Ethan’s polysplenia, he’s immunocompromised and will always be at higher risk of death from simple infections, both viral and bacterial. “We basically have to hibernate from September to March and don’t really take him out in public in places where he’s likely to be exposed to nasty germs,” said Ali. He also has a pacemaker that he’s fully dependent on for the rest of his life.
Ali describes the subtle differences their home may have with their medical supplies. “The side tables in our living room just look a little different, with our transmitter and his neb masks and saline bullets scattered around, a pulse oximeter and a stethoscope in the drawer. But really, life is pretty normal in between the super-intense hospital stays.”
Ethan’s medical future
After this recent surgery, Ethan’s heart is as close to fully repaired as it will ever be, but that is not a cure. There is no cure for heterotaxy or CHD (congenital heart disease), just surgeries and treatments to deal with issues as they arise. He will always need to head to the ER for fevers. He will always depend on a pacemaker, so he will need surgeries to replace that whenever the battery runs out or wires need to be changed. His valves will likely require further repair or replacement in the future, and he’ll outgrow the donated valve and artery that brings blood from his heart to his lungs–probably by the time he’s 8. “If we get really, really, REALLY lucky,” said Ali, “replacing that will be the next time he has a big open-heart surgery, but we know that with heterotaxy, anything goes, so we won’t hang our hats on that.”
“We take one day at a time with him, just like we have from the day we found out. It’s just that, now, we’re starting to let ourselves hope that we might get a lot more of those days than we ever thought possible.” – Ali, Ethan’s Mom
Hiking after surgery
Ethan and his family joined in the recent HiB30 Challenge. Ali was overjoyed to watch Ethan be able to walk without stopping to catch his breath every few feet. “At first,” she said, “he would walk a few feet and then, out of habit, stop and tell me he was tired and that he needed to catch his breath. After a little while, he would stop, pause, and say, ‘Wait mama, I’m not even really tired!’ And by the end, he was running full speed for about a quarter mile straight, arms outstretched, yelling that he was Superman. He hasn’t stopped since.”
His big sister, Zoe, is very protective of him and can frequently be seen inserting herself between him and another kid at the park or on a hike, very seriously informing them that her brother has “heart defections” and that they can’t touch him if they’re sick.
Maricar Korff hikes with Ethan and his family often. “What I would like people to know is that even though they faced these challenges,”said Maricar, “the family was still able to come back post-surgery and hike some major trails and put on some major mileage.” She also only has positive things to say about Ali and the photos she takes of families on the trail. “How does she do all that with two children? The woman’s heart is selfless!”
Family has been an incredible support during this time. Ali’s parents successfully keep a sense of stability for Zoe when Ethan and his parents make the inevitable trips to the hospital. Neighbors and church members are also encouraging and supportive. “Our church family prays for us and checks on our house while we’re away and brings us food when we get home from the hospital,” said Ali. “Never underestimate the power of a home-cooked dinner that you didn’t have anything to do with!”
Hike it Baby members are also cheerleaders for Ethan’s journey. Ali describes the support she felt during Ethan’s most recent surgery. “Some of the loudest voices cheering us on were our new Hike it Baby family. They texted and e-mailed and dedicated miles to each chamber of his heart while he was in surgery, and knowing that these people who, up until a few months ago, used to be strangers to me were right there in the trenches with us was just so incredibly encouraging.”
During their first hike with Hike it Baby, Ali realized, “This might just be the thing that would keep me sane during the long winters. We can’t really go out with Ethan to indoor places, but the great outdoors is totally fair game!” Since it can be difficult to plan playdates or predict his health, Ethan and Ali are grateful to make friends on the trails. “Our HiB friends have honestly already become like family to us; they have been such an encouragement during this last round of the fight.”
Final Thoughts: a Mother’s Perspective on Heterotaxy
I came into this journey with a unique perspective, having been the nurse on the other side of the bed caring for chronically ill children and wondering how on earth their families did it. But once you’re on this side, you realize that you do it because you have no other choice and that, while you are still very much human, you are the person who loves your baby the most out of anyone in the world and so you will always be his best advocate. Don’t be afraid to push for answers, for better care, for different opinions. It was other heterotaxy families who encouraged me to send Ethan’s records to the team in Boston and I will always be grateful that I listened and that I pushed for more for him.
For us, we live in a weird grey area where we have a medically fragile child who is also, for the most part, quite healthy. He doesn’t look sick, especially now that the telltale blue lips and fingertips have been replaced by pink, so I’m sure it’s sometimes hard to understand why we’re so protective of him and his health and why we cancel plans so frequently. I promise we’re not flakes; it’s just that his health will always be our first priority. And that’s hard for us. We want to be as normal as we look. We want to throw caution to the wind and go to that children’s museum in the middle of winter. And maybe one day his immune system will have developed enough that we can. But for now, we’re going to come and go in and out of your lives depending on what he needs. Please be patient with us. Please wait for us when we disappear for weeks on end. We’ll eventually come out of whatever crisis we’re in, and we’d love to have someone there to meet us on the other side.
We would like to thank Ali for sharing Ethan’s inspiring strength and their family’s journey with Heterotaxy. Are you inspired? You can follow Ethan’s journey on their Facebook page at: Hope For Ethan
For more information on Heterotaxy Syndrome, please visit the Heterotaxy Connection‘s website. We would also like to thank the American College of Cardiololgy for their professional insight and contribution to this article. Please seek expert counsel from a medical professional before beginning any activity that could affect your health.