Ambar Marcus didn't think anything of going to the follow-up ultrasound her doctor recommended around 22 weeks of pregnancy -- until she noticed how long it was taking.
"The technician was a lovely lady who chatted with me the whole time, but I noticed it felt like a very long appointment,"Marcus, who lives in Silver Spring, Md., recalled. "This is definitely the longest echo I've ever gotten done, and she started getting quieter and quieter, and I just kind of thought, OK, maybe there's something here."
"I asked her, 'Well, is everything OK?' And you could tell she didn't know what to say, because something is wrong,"Marcus continued. "She said, 'I think it's best you just talk to the doctor. He'll come in and just talk to you about the results.'"
It turned out that her son would be born with a series of complex, life-threatening birth defects.
Doctors diagnosed him with hypoplastic left heart syndrome, in which the left side of the heart is underdeveloped. He also had heterotaxy syndrome and situs inversus, meaning his internal organs were flipped and developing on the opposite side of the body from where they normally sit.
"He has a very complicated heart,"said Dr. John Thomson, director of cardiac catheterization at Johns Hopkins Children's Center, in Baltimore. "Effectively, he's missing half of his heart. The main pumping chamber isn't there. The artery that connects the heart to the lungs wasn't there,"he explained.
"And to add to the complexity, his heart's sort of the wrong way around. It's reversed or mirror image, if you like, so it's not sitting in the chest in the normal position. It's sitting backwards with everything the wrong way around,"Thomson continued. "So it's a really complicated set-up."
It's a set of conditions that affect about 1,000 newborns in the United States every year, doctors say.
"Just under 1% of all births have a heart problem of some sort, but most of the time those problems are relatively simple,"Thomson said. "I can't give you an exact figure for this sort of thing, but probably 1% of that 1% would be something as unusual and complicated as this."
But thanks to a series of procedures and decades of advances in heart surgery, the boy -- Aidan Marcus -- is now a healthy and happy 18-month-old toddler.
"Looking back, I mean, Aidan is one of the strongest people I've gotten to know, this past year and a half,"his mother said. "He's just such an awesome kid."
Thanks to the ultrasound, doctors were able to prepare for Aidan's arrival.
Marcus recalls there were 13 people in the room for Aidan's delivery, compared with just four when her first son Michael was born -- and those four included her and her husband, Justin Marcus.
"Increasingly these days, babies with important heart problems are detected before birth,"Thomson said. "And in many ways, the more severe the heart problem, the more likely it is to be found. So if you're missing whole chambers from the heart, sections of the heart are missing, then it's much more likely it will be picked up on an ordinary scan that the mom would have."
Marcus said she wasn't even sure she'd be able to hold Aidan following his birth. Doctors had warned that they might need to stabilize and intubate him immediately.
A fighter from the start
But Aidan came out fighting, his dad said.
"When he was born, he came out breathing and crying, which brought us, you know, happy tears,"Justin Marcus said.
Ambar got to hold Aidan for about 20 minutes before doctors had to take the boy, and it wasn't too long before his complicated circulation started taking its toll.
"Later that day, he started requiring a little bit of oxygen, just through the regular nasal cannula, and then they started increasing it,"Justin Marcus said. "He just needed more and more help as the hours went by, then Aidan was eventually intubated."
They knew he would need open-heart surgery to start repairing his circulation, but Aidan needed more time to grow.
To provide extra blood flow to Aidan's lungs prior to that surgery, Thomson performed a keyhole surgery procedure a week after his delivery to keep open a blood vessel found in babies that typically closes just after birth.
"Our priority is to ensure that there is adequate flow to the lungs, and that means not too little and not too much,"Thomson said. "And in his case, because his lung artery didn't connect to the heart, it meant that we had to do something to ensure that blood got through into the lungs."
Thanks to that procedure, Aidan was able to go home with his mom and dad a month after he was born, still on oxygen therapy.
"Some other heart patients go home with feeding tubes through their stomach. Aidan did not need that. He was such an amazing rock star from the beginning, that it was one less thing to worry about,"his mother recalled. "So we were comfortable coming home with oxygen, but that's kind of why we stayed as long as we did post-birth, because Aidan just could not seem to be OK without oxygen."
Even though his parents were happy to have him home, this was a fraught time for the family. They had to keep a close eye on Aidan's oxygen saturation, which would start to slowly dip down whenever they laid him down to rest.
"By the time we actually had put him down to sleep, you know, he would wake up 30 minutes later. And so that was a really tough time,"Aidan's father said.
The doctors wanted to give Aidan time to grow big enough for a Glenn open-heart procedure, which is common for babies born with his heart condition.
"There's a vein that drains blood from the top half of the body, and you take that vein and you unplug it from the heart and stitch it on to the lung artery,"Thomson said of the Glenn procedure. "If all is well, then that blood will flow under relatively low pressure through the lungs, collect oxygen and improve the child's color and their oxygen levels."
So just a week before his first Christmas, and just under 4 months old, Aidan underwent the procedure.
"If the truth is known, we would have preferred him to have grown a bit more, but the procedure that we did at the beginning to secure his primary blood flow was by that point starting to run out of steam,"Thomson said. "It wasn't providing enough flow into the lungs. And so we were forced to have to do the [procedure] a little earlier than we would have preferred."
More heart surgery coming at the age of 3
Nevertheless, Aidan again emerged from the surgery strong, and was able to leave the hospital two weeks later.
Aidan also has a congenital lung disease called primary ciliary dyskinesia (PCD), in which tiny hair-like structures in the airways can't properly move mucus through. This makes it easier for bacteria and viruses to remain in the airway mucus and cause respiratory infections.
So he continues to have routine visits with a cardiologist to monitor his heart, and a pulmonologist to keep tabs on his lung health.
"He has year-round nasal congestion and a chronic cough due to his PCD, but his heart is fine,"Ambar Marcus said.
Aidan will need to undergo another open-heart surgery called the Fontan procedure when he is about 3, to ensure a steady supply of blood to his lungs as he and his heart grow into adulthood, Thomson said.
"There's lots of wonderful things that we can do in modern medicine, but we can't create a new pumping chamber out of nothing, so we are in this situation [of] replugging or re-diverting the blood flow around the circulation to optimize how it works,"Thomson said.
"We know through years of scientific work in children who are missing sections of the heart that the most efficient way of the heart working is a circulation where you allow the veins to effectively drain blood through the lungs. Eventually, he will have a second operation to plug the vein from the lower half of the body into the lungs,"Thomson continued.
Despite all these health problems, Thomson said Aidan's outlook is bright.
"There are plenty of adults around with Fontan-type circulations, living a good life with a good quality of life,"Thomson said. "I mean, the reality is that these operations have only been performed in large numbers since the late '70s, so we don't have people who are much older than 40 years with this sort of surgery. And for sure, as people and their hearts age, they do develop problems. But there are lots of adults around with this sort of [procedure] for their heart problem."
In the meantime, Aidan's parents say they are continually impressed by their son's hardiness.
"Aidan has shown resilience since day one. Even the fact that he was born breathing on his own, that went against what they told us most likely would happen,"Ambar Marcus said. "Most babies don't even mouth feed for a long time and they just need feeding tubes. Aidan was like, nope, I want to mouth feed."
"He's just been so resilient since the beginning that when I look back, I'm like, he's been fighting since day one,"his mother said.
More information
The U.S. Centers for Disease Control and Prevention has more about hypoplastic left heart syndrome.
SOURCES: Ambar and Justin Marcus, Silver Spring, Md.; John Thomson, MBBS, PhD, director, cardiac catheterization, Johns Hopkins Children's Center, Baltimore
