Look at Them Now: Families Faced with Birth Defects Share Their Stories

To celebrate the 20th anniversary of the Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia (CHOP), families share the stories of their experiences in these videos. Each turned to CHOP for treatment options and hope when faced with the diagnosis of a serious or life-threatening birth defect.

Watch the stories to hear from patients of all ages who underwent fetal surgery or were cared for immediately after birth for conditions including spina bifida, giant omphalocele, congenital diaphragmatic hernia, lower urinary tract obstruction, sacrococcygeal teratoma, twin-twin transfusion syndrome and fetal tumors. We hope their stories will be a source of hope and information for families faced with similar diagnoses.

Transcript

Michael’s story: Congenital diaphragmatic hernia

Wanda, Mother: CHOP has been a very big inspiration in our life. They did wonders. And if it wasn’t for them I don’t know what we would have done. It would have been our third child that we would have lost.

They brought him through, so we’re just blessed, really blessed.

I went to the doctor, and I guess I was 17 weeks pregnant. And that’s when I got the bad news that Michael had a diaphragmatic hernia. The diaphragm is a flap of muscle that separates the lungs from the abdominal organs. A diaphragmatic hernia is a hole in the diaphragm that lets the abdominal organs move up in the chest area. And that can harm lung development, which Michael only had 34% lung on the left side.

When I spoke to the doctor he had said that Michael had 0.9 percent chance of living. I was devastated because I had already lost two babies. When we went to CHOP, they gave us hope. And they gave us different options to do. And we chose to keep him. So we had him at 36 weeks.

Michael, Father: I got emotional when … as she gave birth. Then … I said if he was gonna make it or not. So they grabbed him real fast and they had him, all the machines in the back. So I’m sitting there waiting. And the doctor opened the door, he put his thumb up He saved my son. So I was really happy, I was really happy.

Wanda, Mother: After birth, they took him over to CHOP. Michael had two surgeries to fix the diaphragmatic hernia. And after that we was able to take him home in 40 days.

I chose CHOP cause I heard they had wonderful doctors there. And my dream came true. CHOP saved my child.

Michael, Father: He’s grown up and become a young man. He’s in the marching band, and it’s like, it’s amazing.

Wanda, Mother: Michael can do all the things that other kids his age can do. He can jump, play, you know, he tires out a little faster, but whatever Michael wants to do, we let him do. He’s a very jolly kid. He got a big heart, loves everyone.

Michael, Father: I’m very, very proud of him.

Wanda, Mother: I walked through the doors of CHOP when I was 17 weeks pregnant with Michael.

Michael, Patient: Look at me now.

‪Stella and Olivia’s Twin-Twin Transfusion Story: Look at Them Now‬

Olivia: Sometimes when she gets hurt, and she cries, I cry. Cause she’s my sister.

Trista: I remember calling him from the car saying there was a problem, and you know, they can’t do anything for us. So you know, they actually had recommended to go to CHOP.

Chris: The doctor was telling us what the condition entailed, and gave us the statistics, and I remember thinking to myself, those numbers don’t sound very good.

Trista: Neither of us had ever heard of twin to twin transfusion syndrome. One baby was getting too much blood, nutrients, and one wasn’t getting enough.

Chris: We were both in a state of shock. What was a perfectly normal pregnancy, just maybe 48 hours earlier, now we were in a position of losing both babies.

One option was to go into the blood vessels of that shared placenta and create two distinct halves instead of one whole that was being shared. So each baby is going to get the right amount of blood flow. There were only a couple of medical facilities practicing this procedure. It gave us our best chance for a favorable outcome for both babies.

We had been told that the procedure at CHOP went well, but you know, they can’t tell for sure until the babies are born. So the day that they were born and the doctor said that they're healthy, we felt very blessed that we had been introduced to the right people to help us.

We really felt like there was a full team approach to this, which raised our confidence that this isn’t one person’s opinion.

Trista: When they say, “Who’s older?” We always say, “Stella was taken out first, but you were born in the same minute.”

Chris: We certainly have a huge sense of gratitude to all the folks that have dedicated their life’s work into figuring out how to give an unborn baby a better chance at a healthy life.

Trista: I would just say that I, I could never thank them enough. We feel so lucky and so blessed.

I walked through the doors of CHOP when I was 21 weeks pregnant with the twins…

Chris: And look at them now.

Emily’s Sacrococcygeal Teratoma Story: Look at Her Now

Eleanor: We were really excited, it was our first child. She was really wanted, and we were absolutely thrilled. We went for our 20 week ultrasound, I don’t think I’ll ever forget it, but the first thing that the doctor said was, you know, “There’s something wrong with your baby, we see a growth.” He said, you know, “You’re baby has a sacrococcygeal teratoma.” I couldn’t even say the word.

Matt: It’s a tumor that grows off of basically your tailbone.

Eleanor: She pretty much told us we had a 50/50 shot that the baby would survive. So we left that room and we were just devastated. And so the first thing we did when we left was we called CHOP. Our first day at CHOP I think the one thing that stuck out to me is when we arrived, we had a whole team of people that have seen countless moms that aren’t having your typical, normal, healthy baby. We came once a week for the rest of my pregnancy.

The first game plan was to get me to term. They wanted to get me past 28 weeks, and deliver her, and then deal with the tumor. But if something were to happen before that, the plan was to do fetal surgery.

Matt: You know, they had a plan for us either way. That they were going to do everything in their power to deliver a healthy baby, and keep El healthy as well.

Eleanor: I was 34 weeks along, we went in for our ultrasound, and I said, you know, “Something’s wrong with the baby. Something’s wrong with the baby.” And she stopped everything, she said, “Okay.” And she left the room and she came back with four or five different doctors. And they hooked me up to a fetal monitor, they had an EKG going on the baby. And they left the room, and they came back full scrubs, ready to go, and they said, “We’ve got to deliver her now.”

There are things that are out of your control, but choosing the best hospital, that’s in your control. Choosing the best people to work on your baby, that’s in your control.

Emily was born on October 31st, 2012.

Matt:  The tumor was like a third of her weight. It still blows me away today to think about how large it was.

Eleanor: Our surgery team was with her when she was born, and with her the next day too when they removed everything.

Matt: Today you really wouldn’t be able to tell that she had a major surgery, you know, the day after she was born.

Eleanor: Emily is amazing, she’s a spitfire, she’s funny.

Matt: She’ll just dance around, you know spin in a circle. She’s just like going nuts having a great time.

Eleanor: Every day, I mean, I look at her and then I think how close we came to losing her, I just can’t imagine our lives without her. There’s just absolutely no way that she’d be here without CHOP.

I walked through the doors of CHOP when I was 20 weeks pregnant with Emily, and look at her now.

Addison’s Mediastinal Teratoma Story: Look at Her Now

Mary:  When we found out we were pregnant with Addison, it was a little over a year after we had our son. So obviously we were elated with that news. When I was 20 weeks pregnant, we had a completely normal ultrasound done. And then about five to six weeks later we found out that something was terribly wrong with Addison.

There was a large mass in her chest and she was very ill. He said to me, if anything can be done for your child, it can be done at CHOP and you need to get there now, you need to call today. He told me that they do fetal surgery there.

When we got to CHOP it was a very comforting feeling. As scary as what was happening was, we really felt like we were in the right place.

Her diagnosis was a mediastinal teratoma, which means she had a large tumor in the center of her chest. And it was pushing on her heart and lungs, so it actually put her in heart failure.

Jed: There were only a couple options we had.

Mary: We decided to go forward with the fetal surgery.

Jed: Couldn’t believe that they could do that kind of thing.

Mary: They wouldn’t actually take her out of my uterus, but they would open up her chest and remove the tumor. And then they would close up the baby, and then close me up. And hope that she would have time to recover while in the womb.

Jed: We felt that even though it was a small chance, at best 50/50, it was worth it to save Addison. It was a really long day. We were scared, we were praying.

After the surgery was complete and they had told us that it was successful, obviously we were thrilled.

Mary: It really was a day by day situation after the fetal surgery. And just closely monitoring how Addison was doing.

Jed: Mary started to go into labor six days after the fetal surgery. We were very scared, we kind of, you know, it was the worst case scenario on our mind that she wasn’t going to make it.

Mary: Addison was born three months premature, and weighed two pounds. We gave her the middle name Hope because at the time we, that’s all we had, was hope.

Jed: The first time we went to the NICU to see Addison was very scary. She was obviously had just recovered from a major surgery six days before, so she had a very large scar down her chest with sutures. But I was thrilled to see her. And there was no less than four or five nurses and doctors around her the whole time.

Mary: She was hooked up to so many tubes, and IVs, and monitors. But I felt so good being next to her. She came home about two weeks before her first birthday. The first couple of years she was home we had a lot of challenges, but she is a very strong kid, and I think she was very motivated by her big brother. He was running around the house like a crazy kid. And she just wanted to do a lot of what he was doing.

Jed: Addison is a sweet, loving, tender, caring girl.

Mary: She’s a regular kid with a big scar down her chest. We just never imagined she would be doing all these things that she’s doing.

Jed: We were blessed with so many wonderful caregivers, the doctors, the nurses, social service. Everyone we encountered was wonderful. And we wanted to find a way to give back.

Mary: We started a fund there called the Addison’s Hope for Fetal Families Fund. It’s for families who can’t afford to travel to CHOP. We think that everybody should have access to the wonderful resources at CHOP.

Jed:  I will say that one of the most rewarding things that I’ve ever had in my life is knowing that it’s actually working. That there are kids that are in this world because the parents have been able to get there, and we’ve been able to help that happen.

Mary: Addison is an unbelievable kid. I really believe she lives every day just feeling happy to be alive.

Jed: She’s something special without a doubt. Absolutely a miracle, we’re very lucky.

Mary: Our family walked through the doors of CHOP when I was 26 weeks pregnant with Addison…

Jed: And look at us now.

Jameson’s Omphalocele Story: Look at Him Now

Stacy: Finding out that we were pregnant with Jameson was probably one of the best days of our life.

We went through a long spell of trying to get pregnant. So we were ecstatic when we found out. We found out at 12 weeks that Jameson had an omphalocele.

Stephanie: An omphalocele is when the organs don’t form inside the body, they actually form outside the body. And so in Jameson’s case, he had four major organs outside of his body.

Stacy: We were also told that after genetic testing that there was a chance that he could have multiple genetic disorders. They were talking about maybe termination, which of course, after such a long journey, that was not what we wanted to here. I googled omphalocele because this was all new to us. And the only thing that kept coming up was CHOP.

Our first day at CHOP we went through a lot of testing, we found out that he only had the omphalocele. Other people we spoke with, it didn’t sound promising at all. But when we came here and we said, “omphalocele” I mean it was a known term and it didn’t seem like it was this life ending thing that couldn’t be fixed. Right away I felt confident. And then also knowing that the special delivery unit has delivered babies with omphalocele before, made us feel really confident.

He came out weighing 4 lbs, 15 oz. He was obviously early, 33 weeks and 6 days.

Stephanie: The omphalocele was about 5-6 inches off of his body, containing the organs.

Stacy: We actually, I didn’t hold him for, gosh, probably seven weeks. We spent every single day here for the two and a half months that he was in the NICU. The one night we actually got to lean in and give him a kiss for the first time. And that was probably like the greatest day ever. Actually feeling our skin to his skin, besides holding his hand.

Eventually Jameson will have the final surgery to complete the treatment process. Jameson now is our little bundle of joy. He’s full of energy, he’s so happy, he smiles at everybody. He giggles all the time, he loves to play, he love books. You would have no idea that there’s anything physically wrong with him if you were to see him.

The whole process of being here at CHOP with all the teams, starting from the Special Delivery Unit, moving to the NICU, moving to the Pulmonary Hypoplasia Program, working with our surgeon, it just, it doesn’t get any better than this. We still have a journey ahead, but the outlook looks great.

I walked through the doors of CHOP when I was 13 weeks pregnant with Jameson…

Stephanie: And look at him now.

Owen’s Lower Urinary Tract Obstruction Story: Look at Him Now

Travis: We first learned that there was something wrong when we went for a routine ultrasound.

Tara: And we were at 13 weeks at that point. The doctor came in and just said that they found something concerning. He told us the baby’s bladder was very large. And he explained that there was probably an obstruction there causing the urine to not be able to get out of the bladder. He just explained that the prognosis for these patients is very poor. He told us that most people choose to terminate the pregnancies. He just kept using words like, “lethal, fatal, grim, poor prognosis.”

Lower urinary tract obstruction is just when there’s some sort of blockage in the pathway for urine to get out of the bladder and into the amniotic sac.

Travis: We decided to look to do our own research and figure out what our options were. And had come across CHOP. And we learned that CHOP was basically the best place in the world to go for that diagnosis. Ultimately we found out that he was a candidate for the fetal surgery.

Tara: The surgery involved putting a catheter, or a shunt, through the baby’s abdomen into his bladder to give a pathway for the urine to come out of the baby. At 19 weeks we underwent the fetal bladder shunt procedure.

Travis:  Owen was born on August 7, 2013. He weighed 8 lb, 6 oz, and he was 19 inches long. I think Owen has taught us to just take one day at a time and not get too far ahead of ourselves, and just be happy for the moments that we have with him that we, at one point, didn’t think we'd ever have.

Tara: A day does not go by that we don’t think about the fact that somebody told us that Owen wouldn’t be here. I just feel grateful that we took it upon ourselves to do the research and to find somewhere that could help.

I walked through the doors at CHOP when I was 17 weeks pregnant with Owen…

Travis: And look at him now.

Tara: Yay!

Christina’s story: Fetal liver tumor

Susan, mother: I had a molar pregnancy, which majority of times ends up in miscarriage.

I had cysts throughout my placenta. And late in my pregnancy the hospital did a routine level two ultrasound and they noticed a cyst in Christina’s liver. We were told to see Dr. Adzick over at Children’s Hospital. He was a pioneer of so many things. I don’t know how we got that lucky. It made us feel like we had the best hope out there for Christina. I was watched with level two ultrasounds throughout the rest of the pregnancy, and the cyst would fluctuate up and down for the remainder of the pregnancy.

After her birth, she was having problems, difficulty with breathing. It was the size of a grapefruit was what they told me. It was crushing the organs. They gave us two options. One was either a transplant where they would take a section from either her father or my liver, or to try and do this liver resection. They felt the liver resection was the best thing possible for Christina. And that’s how we proceeded.

The surgery took a lot longer than what they anticipated. Dr. Adzick was amazing. When he came out, he told us that, “It’s a one day at a time with Christina. We removed 7/8 of her liver. But the liver regenerates. And we’re gonna do it one day at a time.”

We took her home six weeks later, and she thrived. She now has a liver, at one point that looked like a chili pepper. She has a mark that goes from left to right, and it is known as her beauty mark. She is our miracle.

Christina, patient: They weren’t given a lot of hope, and then when they come to CHOP, hope lives here. And they were told, “You’re going to be able to have this child. Your child can grow up, graduate high school, go to college.” I go to the reunion every year, and it’s crazy to see how far we’ve come. When you see all of these little kids running around, they’re hope.

Today I’m almost 20 years old, a freshman at college, and I was operated on as a newborn at The Children’s Hospital of Philadelphia. And look at me now.

Charlie’s Omphalocele Story: Look at Him Now

Gayle: From the very beginning it was an adventure. When we found out that we were pregnant, we were happy but nervous because I had already had several miscarriages. So we had an early ultrasound, and that’s when the doctor noticed that there was something wrong.

The giant omphalocele is where, if you could imagine a giant balloon on his stomach, and that’s where all of his internal organs were. Since CHOP was so close we wanted to go and see if we could get an expert opinion from people that had dealt with these types of situations before.

Charles Sr.: That was a ray of hope that this wasn’t some unknown situation and that there was a team that was practiced in dealing with these things.

Gayle: We would have weekly ultrasounds, and make sure that everything was progressing correctly. He was delivered at the hospital next door. And then he was transported over to CHOP, and then he went into the NICU. Now CHOP has the special delivery unit where women can actually have their babies by cesarean, or natural birth, in Children’s Hospital and then be right next to their children right away. For me to be a hospital away, it was hard.

He was born November 19th, and he had seven surgeries before January.

Charles Sr.: It wasn’t until the surgeries were all done that we actually got to hold him.

Gayle: We always call him our miracle boy because he wasn’t really even  supposed to be here. But he is going to be 18 in a couple of days, he’s a senior in high school, he just earned his Eagle Scout rank for Boy Scouts, which we’re very proud of. And he’s a wonderful son, couldn’t ask for better.

Charles Sr.: They helped prepare us before he was born. And they helped us to figure out the puzzle as it went along. And I’ll be eternally grateful for that.

Charlie: My mom walked through the doors of CHOP when she was 16 weeks pregnant with me. Look at me now.

Related Centers and Programs: Center for Fetal Diagnosis and Treatment