Advanced Fetal Care Center

Finding out the news

When first diagnosed, around 20 weeks into her pregnancy, Anne recalls feeling numb by the news. "We weren't expecting anything," says Anne. "I loved being pregnant. There wasn't anything wrong."

Anne and Scott had gone for a routine ultrasound. When Shane's position made it difficult to get the images needed of his face and chest, a level II ultrasound was suggested, more for convenience than any concern--they wouldn't have to come back another day and try again. Chatting with the technician for that second ultrasound, Anne noticed his demeanor suddenly change. " 'I'm not getting a good reading on this machine,' " Anne remembers him saying. " 'I'm going to take you into another room and use another machine.' " This one, Anne, noticed, looked like a more advanced machine. "Where that was the Honda, this was the Rolls Royce." She knew something was wrong.

Not long after, the doctor came in with two interns. "They were scrutinizing the images, though not saying anything." The physician later returned to give Anne and Scott the diagnosis of CDH, something they had never heard of. Receiving the news, Anne says, was like getting hit by a truck.

Looking for information

That night Anne began researching congenital diaphragmatic hernia on the Internet. "It's not like getting a diagnosis of other things that are more common. It's not even in any of the basic pregnancy books," recalls Anne. Adds Scott wryly, "Definitely not covered in What to Expect When You're Expecting."

Finding accurate research was a challenge. "We quickly learned to take a look at where the data is coming from," says Scott. "Anne was reading information that was 5, 7, 10 years old and getting more and more upset."

They would need to get with experts on CDH, find out more about their specific situation, then make decisions. "You get the best qualified people that you can, you put your trust in them, and you go from there," says Scott.

The Shannons live in the Boston area, and their physician knew of the work of the Advanced Fetal Care Center (AFCC) at Children's Hospital Boston. Still, having had family members with serious health concerns--including Scott's three siblings who had cystic fibrosis--Scott and Anne are firm believers in going straight to the best, no matter their location.

"Children's," says Anne, "just happens to be local to us, but that is not the reason why we're there. We understand how important it is to get to the very best as quickly as possible, and you don't settle for anything else. That is just our philosophy. We wanted the best possible outcome and we would do whatever it took to get that."

Twenty years ago, about one in five babies with CDH survived. Today the national average is 60 percent; at Children's Hospital Boston it's 90 percent.

Taking the next steps

Remembering the first contact she had with the AFCC, Anne says now, "The conversation wasn't really a conversation. It was just me sobbing on the phone. You have those first couple of days where you cry, and cry, and cry. That was all I could do at that point."

How did they move ahead? "The first piece was, let's get all the information and find out what's going on. Let's get the tests and find out where we're dealing with," says Anne.

Scott concurs, "We wanted to find out as much as we could about our situation, putting off any major conversations, discussions about feelings until we knew the facts."

About the AFCC team, Anne says, "They were fabulous. The thing that I liked is that it was, 'Okay, you're coming in for a day, and we are going to do all the tests, and at the end of that day, we sit down with you and we tell you what's going on.' It was a tough day. It was a long day, but we had what we needed at the end of it. We had the information that we needed to move forward."

For some types of fetal anomalies, prenatal intervention might be warranted. However, for Shane's CDH, the plan was to very carefully monitor Anne's pregnancy, be prepared for any necessary interventions at delivery, then repair the hernia after birth when the baby was stabilized. After delivery at Brigham and Women's Hospital in Boston, Shane would be in intensive care at Children's for postnatal treatment and care.

Receiving support through the Family to Family Program

Through the AFCC, Anne and Scott were introduced to Children's Family to Family Program. The program connects families now facing a diagnosis with other parents--trained volunteers--whose child has experienced a similar health concern for information and emotional support.

Anne and Scott decided to take advantage of the program early on. Through a number of helpful telephone conversations, they learned much from a mother whose daughter was born with CDH the previous year. "The doctors and nurses give you great information," notes Anne, "but it's not coming from someone whose shoes you-re about to walk in."

It was helpful for Anne and Scott to talk to someone else who could personally relate to the emotional spill-over that can come with the situation. Laughing about it now, Anne recalls being told by the other parent, "We're going to fight a lot, which we were." Helpful, too, was talking with someone who understood what it felt like to have to track the pregnancy so closely--including non-stress tests, ultrasounds, and monitoring build-up of amniotic fluid.

Many questions naturally arose as the pregnancy went along, such as, what to do about a shower or whether to prep the nursery or not. "In trying to find your own pulse on it, it's sometimes helpful to get another parent's read on the situation," says Anne.

The Family to Family experience also proved very beneficial as the Shannons got ready for delivery and the postnatal experience of intensive care. "For a lot of these kids," says Anne, "you can't hold them and can't stimulate them because it actually is detrimental. To have just given birth and not be able to hold your child, it's so hard."

"You can never truly prepare," says Scott of intensive care, "but it was helpful to know that what we were experiencing was not uncommon for CDH babies." For example, being unable to hear Shane cry due to being on a ventilator was very unnerving, says Scott. Babies with CDH often require breathing assistance due to underdevelopment of the lungs.

Shane did very well in his first week. At delivery, some babies with CDH require a procedure called EXIT-ECMO. The baby is partially delivered via Cesarean section, and a breathing tube is placed to attempt to give the baby oxygen. If the oxygen level of the baby does not rise, he or she is placed immediately on ECMO, a heart and lung bypass system. Shane's delivery did not require EXIT-ECMO. Surgery to repair the hernia took place the second day.

Unfortunately, during his second week of life, Shane's oxygen levels decreased, and he came close to ECMO. Remembers Scott, "It was all about numbers early on. You become versed as to what numbers are good, what numbers are so-so, what are bad."

On a rollercoaster

Experiences like that are part of what the Shannons call the "CDH Shuffle," a term learned from their Family to Family support person, where for every two steps forward, there's one step back. "When you take a step backward, it really hits hard," Anne notes. "You're wanting to have hope in everything you see. It's very difficult not to get caught up in that."

Shane continued to progress, though other set-backs occurred. For example, where Shane had been eating well, he suddenly experienced an onset of reflux and began to frequently throw up. "We were watching other parents going through that, and we thought we had dodged that bullet. It was one moment, he didn't have it, then the next moment he did, and it didn't let up. He was losing weight, he was losing energy." He required a procedure called a fundoplication to decrease the reflux, and a feeding tube was put in.

Family pictures, a tape deck playing their voices and music, and an aquarium mobile were among suggested items the Shannons brought in that helped soothe Shane during those early weeks.

When it was time to go home, making the transition was not easy, the Shannons recall, being new parents to a child with a complicated health concern. There have been return visits to the hospital, even recently as Shane is still developing the resources to fight everyday colds and illness. He continues to receive follow-up care through Children's outpatient CDH clinic and early-intervention support. Managing his reflux, strengthening gross and fine motor skills, and speech development are among areas of focus. "Overall, and considering where he's come from," says his mom, "he's doing fabulous, just amazing."

Helping others

Anne and Scott have continued with the Family to Family Program as volunteers who help others facing a CDH diagnosis. Among their suggestions for other parents: Take advantage of the resources at Children's, such as talking through any concerns with members of the care team, getting connected to the Family to Family Program, and using the CarePages family web site, to communicate with friends and family members while your child is in the hospital.

Another piece of advice Anne says she received, is to remember to take care of yourself. "There's a reason why, in the event of a plane emergency, they say take your oxygen mask first and then help the person next to you. If you aren't taking care of yourself, there's no way you can help your child."

Anne adds, "If someone had told me: 'Do-over, you can have a different baby, no health issues, but it wouldn't be Shane,' I wouldn't trade him for anything. I just wouldn't do it. While it's been a challenge, you do come out of it stronger and really understand a lot more about your child in ways that other people just don't get."