Twenty-eight weeks into her pregnancy, Janell Marton and her husband Scott learned their son had a dangerous birth defect, called congenital diaphragmatic hernia, or CDH. Janell underwent fetal surgery at UCSF's Fetal Treatment Center, and surgeons at UCSF Benioff Children's Hospital San Francisco have operated several more times on their son, Luke, after birth. The Martons speak about their experiences with CDH and Luke's treatment.
How did you learn something was wrong?
Janell: We were getting an ultrasound. We have an older child besides Luke and so we were thinking, no big deal. But then you go through an ultrasound and they're taking a long time and the doctor's not talking — you kind of know something's going on. We're joking around, and they're not responding. Then the doctor let us know that Luke had a condition called congenital diaphragmatic hernia.
We got a call that night from the doctor who did the ultrasound. She had worked at UCSF and she said, "I think they'll know more about it there. They specialize in it." She gave us a couple of websites so we could look up the information.
We don't have any idea what the condition is, or how we're going to tell our family that there's something going on with our baby. We knew we weren't going to terminate at 28 weeks, but we didn't know anything about his condition.
Scott: It was a Thursday or Friday that we went to that ultrasound. The following Monday we went to UCSF and they did a bunch of tests on Janell to see if she was able to go through [fetal surgery]. The doctor said, "Yes, you can qualify for it. Now go home and think about it." And it was no decision.
Janell: The baby has to have a really severe condition to qualify to have fetal surgery, so just the fact that we qualified for it — we were like, great! We qualify to have fetal surgery!
There's a certain limit for the surgery, which we were almost at — usually between 28 and 32 weeks. By then we knew all about CDH, how it works and what to expect, so we decide to go forward with it.
Tell us about the fetal surgery.
Janell: Luke's surgery in utero was the balloon tracheal occlusion. They're trying a new procedure that's only been done a number of times, so I’m in a room with 30 to 50 doctors who are all videotaping. We had surgery at 31.5 weeks and he was a large baby. He didn't "uncurl" like he was supposed to, and it was difficult for the docs to get the trachea straight to place the balloon.
When I woke up in the morning we got word that it didn't work. Luke ended up swallowing the balloon.
Scott: From then on out, they just tried to keep Janell pregnant as long as they could. My mother stayed with Janell and I had gone back to work, trying to keep the other part of the family going. I get a call from Janell and she said, "I just don't feel that well." So I said "OK, I'll come down." I made it just in time.
Janell: They're rolling me in [to deliver the baby], and he's running in from the parking lot. They get him in the gear and wash and scrub him, then they're like, "Here's the baby! Bye!"
They have a whole other entourage of doctors that are taking care of Luke. He's not going to cry like a normal baby, because he doesn't have the lung capacity. They hook him up to machines to make sure that his heart's beating and everything's working. [At the same time] they're taking care of me. Several hours later, my father-in-law comes in and says, "I saw the baby. So beautiful!" and I'm like, "OK, I didn't get to see the baby yet, so knock it off!"
When was the diaphragm fixed?
Janell: On day five he had surgery to fix the hole in his diaphragm. His diaphragm just didn't develop properly and when that happens, the intestines and liver can go up into his chest and his lungs can't develop. What they do is, they pull it all down and then they make an artificial diaphragm.
They said he would probably be in the hospital for at least two to three months. I think it was just under two months when he got to go home with us. He went home with a little bit of oxygen.
After that, everything was pretty much OK for the next few years. But he has an artificial diaphragm and he was this big when he got it, so you don't know — when is he going to grow out of that? Is he going to grow out of that? That's still an issue, actually.
When he was 3 his diaphragm stretched so thin that some of his intestines went up and got pinched in his diaphragm, so he had a bowel obstruction. It was much scarier than the first time. Now we know our baby and we have a 3-year-old who doesn't have any idea what's going on, but he's in pain and the one doctor in town doesn't know anything about CDH. So we called his doctors at UCSF and they said, "Get him here now."
Scott: So we ambulance him down to UCSF. Luke was the 10th or 11th person they've done surgery on that day. It was 11 o'clock at night.
Janell: We were pretty tired so I went to take a little nap. Dr. Lee came in and woke us up.
Scott: He said, "I did the best I could. I don't think he's going to make it through the night, so you might want to add the last rites." He said, "I did everything I can for Luke." We went and saw Luke and the doctor told us if anyone can make it, it's Luke. And he made it through and he beat the odds. He's a tough little guy.
So you've gotten to know the hospital and the surgeons?
Scott: When they came and got Luke for his second surgery, Dr. Farmer came all the way up and wheeled him down personally. All the nurses said, "This is the first time I've ever seen a surgeon wheel a patient down."
It was pretty hard to let go of our son, knowing we might not see him again, and she looked at us with tears in her eyes and she said, "He's in good hands." We were able to let go of our son to someone we totally trusted. In that corridor — that was probably the hardest day of my life.
Janell: These are surgeons who operate on multiple people that they don't know every day, and we can go to the clinic years later and they'll say, "Hey, Luke — how're you doing?"
Scott: Dr. Lee knows that Luke likes to play baseball. When Luke had another minor surgery two summers ago, he came out and the covering [over the incision] was shaped like a baseball. They cut the gauze into the shape of a baseball and drew the laces on the side. We still have it.
Janell: I'm sure it doesn't smell at all.