The primary goal of the Advanced Fetal Care Center team, is to provide the best possible care for the mother, fetus and family. We believe compassion and honesty are essential. The best way to learn about the AFCC is to read the stories of Our Families.
The Davis Family
As is common with a first pregnancy, Susan Davis was experiencing excitement and anticipation when she had an ultrasound test at the University of Connecticut Health Center in Farmington, CT, 18 weeks into her pregnancy. But by the end of her visit, Susan learned her pregnancy was anything but routine. There was a problem, her obstetrician told her. Then, he simply shook his head and recommended terminating the pregnancy. Counselors were available to help with the process, the Davises were told.
But Susan and her husband, Ray, are not ones to give up easily. According to Ray, the Davises asked for some time alone to absorb the news and talk. After 15 minutes they left, telling health center staff they decided to continue the pregnancy, despite the odds, and were seeking a second opinion.
From the Internet, Susan learned more about the baby's diagnosis - congenital cystic adenomatoid malformation (CCAM), an abnormal growth of lung tissue that prevents the normal growth of the heart and lungs. She sent a few inquiring e-mail messages, and within three days, on July 16, 2001, the Davises were sitting in the office of Luanne Nemes, RN, MS, PNP, the nurse practitioner who is a family's first point of contact at the Advanced Fetal Care Center at Boston Children's Hospital.
"Luanne urged us to relax and get ready to deal with whatever was ahead. She said we needed to do some tests, determine the size of the growth, and understand what we were facing," says Susan. "We knew immediately we were in the right place."
After their initial meeting with Luanne, the Davises went to the Radiology Department for ultrasound and magnetic resonance imaging (MRI) diagnostic procedures. They met with the Co-directors of Fetal Imaging, Carol Barnewolt, M.D. and Judy Estroff, M.D., who are AFCC pediatric radiologists specializing in high-risk fetal sonography and fetal MRI. The physicians carefully examined the imaging results and discussed their interpretations with Russell Jennings, M.D., AFCC Director and general fetal surgeon.
With test results in hand and input from the radiologists, a meeting of the Davises, Dr. Jennings and Luanne was the last activity in a long day. "Dr. Jennings told us the CCAM was big," recalls Susan. "He said there were no guarantees, but knowing we weren't willing to end the pregnancy, he told us his team would do whatever was possible." Adds Ray, "We were ready for anything by this time."
The Davises say they appreciated the up-front, but positive style of the AFCC team. "I remember three things that Dr. Jennings told us to keep in mind: that there was nothing we could have done to prevent this, that we couldn't change it, and that there was no easy fix," says Susan. "That helped keep us calm and focused."
According to Ray, they had to have a lot of faith and prayer through the process. "The people at Children's, Dr. 'Barny,' Dr. Jennings and Luanne and all the rest of the staff were great and very helpful," he says."It was not until the end that it all started really sinking in about the problems. I can recall Sue asking me what would I do if he was not born normal or had a disability. I told her that we had made this child. If it was a boy or a girl, and had any kind of disabilities, it was my child and I would do whatever it took to raise this baby. There were the thoughts about what happens if he dies at birth. I thought that if it was God's will, then let it be. It was still hard to deal with. It was a long road and the 30 weeks came and went. It was one emotional roller coaster ride that I will never forget."
Another source of strength was the family members, friends, neighbors and church members who supported the family with offers of help and prayers, say the Davises. Both sets of grandparents lent a helping hand, along with Ray's seven siblings and their families.
The sense of calm prevailed through the weeks of pregnancy as Susan had ultrasound images taken every two weeks in Connecticut with visits to Children's Hospital on alternating weeks. The tests monitored the possible development of hydrops, a condition in which compression of the blood vessels causes the heart to pump harder to circulate the blood, leading to heart failure. Each time the ultrasound images showed that the condition had not developed, Susan and Ray had their own "hydrops celebrations" to mark the progression of the pregnancy.
When they reached the 30th week of pregnancy, an important developmental stage, the Davises were able to breathe easier. Although reaching that milestone was good news, the CCAM was still sizable. At the 30th week, up to 20 percent of CCAMs shrink on their own as the fetus develops. An MRI at Boston Children's Hospital showed that was not the case with the Davis baby, so plans were made to operate on the baby as it was delivered.
Getting ready for baby Davis
The procedure planned for the Davis baby is called EXIT to ECMO. The process would begin at Brigham and Women's Hospital with a procedure called ex utero intrapartum treatment (EXIT). The baby would be delivered partially through Cesarean section, and the umbilical cord would be left attached as clinicians stabilized the baby and readied him for the next step. Then the baby would be connected to extracorporeal membranous oxygenation (ECMO), a heart and lung bypass system that would circulate oxygenated blood throughout the body. ECMO would essentially act as the baby's heart and lungs until the team could surgically remove the abnormal lung growth. Once ECMO was functioning, the umbilical cord would be cut, and the baby would be transported to Boston Children's Hospital.
For the Davis baby, radiologists had determined that the CCAM consisted of both solid tissue and cysts (fluid-filled sacs). They also identified a sequestration, an abnormal connection to a main heart vessel that was feeding the growth. And, finally, images revealed that the Davis baby's umbilical cord had begun to thin, raising concerns of the cords ability to sustain the baby for any period of time.
Knowing all these facts enabled clinicians, and the family, to best prepare for the upcoming birth. All were as ready as they could be, and the C-section was scheduled for November 28.
Of course, little Loren Davis had other plans. Susan went into labor on November 16, 2001. The Davises immediately drove up to Boston from Manchester, CT, and Susan went to the delivery room.
"As I sat there waiting in the hospital room, it was the longest 1 1/2 hours of my life," says Ray. "I thought of everything from my childhood up to this day, and then all the 'what ifs.' It was one more roller coaster ride that I did not expect."
At 2:45 p.m., a nurse came for Ray. "As I looked at her, she was expressionless no smile and a straight tone in her voice," he says. "I walked out of the room and my whole life was in slow motion. I did not know what to do except follow her. I thought I lost my child or my wife."
Ray remembers as he went into the hallway, the nurse turned to him and said, "are you going to bring your camera?" He said, "what?" She said, "get your camera, you have a baby boy." He yelled, "YES!" and ran with her down the hallway after retrieving his camera.
The nurse told Ray to stop and wait in one spot of the hallway by the elevator. "She said I had one minute to see my newborn son, Loren," he recalls. "I saw the surgeons and staff coming down the hall with two big carts on wheels. Here was my son on one, and all the support equipment on the other. I leaned over him and kissed him on the right side of his cheek and took one photo of him. Then he was on his way to surgery."
At 36 weeks, the baby was almost a month early. Loren was quickly weighed at birth, tipping the scales at less than five pounds. All went as planned - Loren was placed on ECMO, then rushed to Boston Children's Hospital for surgery to remove the CCAM and repair the sequestration, while Susan recovered at Brigham and Women's.
"It was a long night - no sleep and wondering how Loren was doing. The doctors and nurses came in every 1/2 hour to give us an update on Loren's status. The next morning I got to see him for an hour before I had to go home for the day," says Ray. "It was hard seeing him with all the machines, but I knew in the long run it was only way to help him get better. I looked over him and gave him a kiss goodbye for the day. I said a prayer and thanked God for all he had done for our son Loren, and thought of all the pain my wife experienced throughout the pregnancy. It was the happiest day of my life. It was having the faith in God and prayer that helped us through the hardest times when we did not know what to expect."
Ray stayed at his son's side as much as possible and was joined by Susan after two days. "I don't know that you can ever be prepared to see your baby in this situation," says Susan. "But I could tell that the nurses and other staff in the Multidisciplinary Intensive Care Unit knew exactly what they were doing. They had so much experience with sick children."
Loren remained on ECMO for three days to allow his heart and lungs to develop. He gradually improved during his five days in the Multidisciplinary Intensive Care Unit. Throughout the rest of Loren's three-week stay at the hospital, Susan and Ray took turns staying with him, reading to him and playing music. Friends, family members, and a priest and a nun from the hospital chaplaincy were frequent visitors.
Susan and Ray recall Thanksgiving Day when they came home for a much-needed break. Neighbors who had seen them pull into the driveway called and insisted that the Davises come to their home for Thanksgiving dinner and wouldn't take "no" for an answer. "I remember sitting there tasting that really good home-made food and being barely able to carry on a casual conversation," Susan laughs. "I had gotten so used to the hospital food and the routine there."
By the time Loren Davis was able to go home on December 7, the breathing and feeding tubes were long gone. Well into 2002, Loren was thriving with very few problems. He is planning to see Dr. Jennings on his first birthday and a Children's cardiologist on his third birthday to determine if there are any long-term concerns about his heart and vessels.
Life is relatively back to normal for Ray, who manages an automobile collision repair center. And although Susan is no longer working as a branch sales manager for a digital duplication company, she knows she has certainly helped to educate her co-workers about fetal health and Boston Children's Hospital.
Loren is growing into a normal, rambunctious toddler. "Loren is a fighter. He's determined, but he's happy. I sometimes wonder if he finds strength by drawing on his earliest experiences," his mother says.
The Keene Family
When Michelle Keene received the news that there was a problem with her unborn baby, her reaction was a normal one. "I was devastated that my baby wasn't perfect," she recalls, "but I was mostly afraid because I didn't know what I was dealing with."
In mid-2002, with a beautiful and energetic six-month-old Emma bouncing in her lap, it was hard for Michelle to remember feeling devastated.
Naming the problem
The Keenes' story began when Michelle was 21 weeks pregnant. An ultrasound at nearby Brockton (MA) Hospital indicated a defect, so Michelle's obstetrician immediately referred her to the high-risk obstetrics unit at Beth Israel Deaconess Medical Center in Boston. More tests revealed that the fetus had a congenital diaphragmatic hernia (CDH).
With the anomaly named, the Keenes learned that a CDH is a hole in the diaphragm, the breathing muscle that separates the chest cavity and the abdominal cavity. The size of the hole varies by individual - some are so large that it appears as if the diaphragm is missing completely. A CDH is most common on the left side of the body. When a CDH is present, the contents of the abdomen, including the stomach, intestines, liver and spleen may move through the hole into the chest. This abnormal movement prevents normal development of lung on the side affected, and may impact the lung on the other side. With underdeveloped lungs, the newborn with CDH is unable to breathe adequately.
The Keene baby had a moderately sized CDH and although most of the contents of the abdomen had moved, less than half the liver had passed through the hole. In addition, a heart test called an echocardiogram showed that the heart had shifted to an abnormal position, but the chambers and vessels were still growing. Magnetic resonance imaging (MRI) tests also showed some lung development on the left side.
"In a few days, we went from being about 70 percent negative to being about 70 percent positive," says Michelle. With growing hope, the Keenes needed a plan. Within a day, at the urging of Bill's aunt, a staff member at Boston Children's Hospital, the Keenes had an appointment at the hospital's Advanced Fetal Care Center.
Throughout the day, the Keenes listened to the input of Luanne Nemes, RN, MS, PNP, AFCC nurse practitioner and first contact for families, Russell Jennings, M.D., surgeon and AFCC Director, and AFCC pediatric radiologists Carol Barnewolt, M.D., and Judy Estroff, M.D., Co-directors of Fetal Imaging. When all the information was considered, the Keenes decided to follow the advice of the AFCC staff and deliver the baby via EXIT to ECMO.
Emma begins her life
The non-traditional birth was scheduled for December 18, 2001. With hospital administration and state regulatory agreement, Michelle was officially admitted to Beth Israel Deaconess Medical Center (BIDMC), but then came to Boston Children's Hospital to deliver.
The specialized series of procedures used to address the Keene baby's CDH is called EXIT to ECMO. With ex utero intrapartum treatment (EXIT), the fetus was partially delivered through C-section, but the umbilical cord was left attached. AFCC physicians then connected the newborn to extra corporeal membranous oxygenation (ECMO), a heart and lung bypass system that circulates oxygenated blood throughout the body. Once ECMO was functioning, the umbilical cord was cut.
As Michelle was transported back to BIDMC to recover, baby Emma was on her way to surgery, with Bill nearby. It was difficult for Michelle not to see her baby immediately. "She was born on Tuesday. I saw pictures on Wednesday. Then on Thursday, I saw her. It was amazing."
During the time immediately after birth, surgeons stabilized Emma and performed surgery to repair the CDH. Bill stayed with his daughter as she recovered on ECMO. The Keenes tried to prepare themselves for the experience of seeing their baby connected to the intimidating machine, so they had visited another child on ECMO at Children's before Thanksgiving. The Keenes also were happy that the AFCC staff worked hard to keep parents informed and prepared, so they weren't completely shocked by her critical condition.
"Nothing could have totally prepared us for seeing Emma in the condition she was," says Bill, "but Dr Jennings and Luanne definitely did not leave out any details in explaining to us the procedure, potential curveballs and the most likely path to recovery. We had numerous meetings leading up to her birth with them and they couldn't have been any nicer."
"It was especially hard for Bill the first few days," says Michelle. "Emma was so swollen and there was a lot of equipment. Her incision had to be left partially open to allow room for the organs, which were swollen." Emma remained on ECMO for four days, but that was only the beginning of what turned out to be a 1 1/2-month stay at Children's Hospital.
Emma's multiple surgeries
The first two weeks after the initial surgery, Dr. Jennings did two more surgical procedures to close the CDH incision. Surgery number three was needed to repair a pyloric stenosis, a narrowing of the part of the stomach that leads into the small intestines. During this procedure, gallstones, most likely the result of IV feeding, were discovered, so Dr. Jennings removed the gall bladder. Finally, Emma needed one more surgery to correct a common condition called gastroesophageal reflux, an irritation caused by the splashing or "reflux" of acidic stomach contents up into the esophagus.
Grandparents and other family members helped Michelle and Bill as they juggled time with Emma and work. Michelle missed only a handful of workdays during Emma's stay, striving to save her time off for when Emma came home. The Keenes say they were thankful for Emma's grandparents who would relieve them and put Emma to bed in the hospital. But they point to another important team. "For those few months, the Children's Hospital team was our family."
"Our family and friends were tremendous throughout the whole hospital stay. I don't know what we would have done without their love and support," observes Bill. "As far as the staff at Boston Children's Hospital, I cannot say enough about how wonderful they all were. They really did become our second family. I actually miss seeing them. We went there every day for four months and it became our second home."
Moving in and out of the intensive care unit, the Keenes tried to take it all in stride. "I teased Dr. Jennings that he would have to send us home because Emma didn't have any more organs for him to remove or touch," chuckles Michelle.
After a consult with an AFCC-affiliated neurologist about possible future neurologic concerns about the effect of ECMO and other surgeries, the Keenes were released from the hospital on April 15, 2002. They planned a follow-up meeting with an AFCC-affiliated geneticist to better understand their families' medical history and how it can affect their health.
In June 2002, Emma was eating solid food and the Keenes were looking forward to final removal of her feeding tube by her first birthday. Michelle describes her daughter as happy and strong-willed. "At first, we asked 'why us?'" says Michelle. "But seeing her taking the strides she did during those difficult months - it made us keep going, too."
The Shannon Family
Shane Shannon is an active and vibrant three year old who loves cars, books, playing ball, and getting tickled. Meeting him, it's difficult to tell just how far he's come in his young life. His parents, Anne and Scott, found out during Anne's pregnancy that Shane had a serious health concern called a congenital diaphragmatic hernia (CDH). In Shane's case that meant surgery and hospitalization after birth, and continued follow-up care, hardly the scenario Anne and Scott envisioned when planning for a baby.
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.
Choosing the Advanced Fetal Care Center
The Shannons live in the Boston area, and their physician knew of the work of the Advanced Fetal Care Center (AFCC) at Boston Children's Hospital. 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 Boston Children's Hospital 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."
The Shannons found out that Shane's situation was on the severe end of the spectrum. However, Children's high success rate with CDH patients--including those with prenatal diagnoses as well as babies coming in after birth--gave the Shannons comfort.
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.
Baby Shane arrives
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.
Staying positive throughout their hospital experience helped the Shannons and, they believe, it was important to Shane's health.
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."
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."
Says Scott about talking with other parents, "We want to help others feel that they are not alone and that what they are feeling and experiencing is 'common' under the uncommon circumstances they are faced with. While each case is different, there is hope. We have a wonderful, joyful three-year-old boy who is here because of the team at Boston Children's Hospital."
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."
The Juris Family
Hearing the news about our baby
On July 12, my family was given some shocking and unexpected news regarding our unborn daughter. I was approximately 20 weeks pregnant and was told she would be a left arm limb deficient individual.
Consultation with the Advanced Fetal Care Center
My husband and I went to Boston Children's Hospital in September for a consultation via the prenatal department. Nurse Donna Morash, RN, is a loving individual who has shown so much love and concern for her little patients and their family members. She arranged for us to meet Dr. Peter Waters, MD, Associate Chief of Orthopedic Surgery.
Care and answers from the Orthopedics team
What an astounding experience. Dr. Waters took the time to review the ultrasounds and answer our questions and concerns. He was supportive, compassionate, and reassuring to us.
Leaving Children's after our consultation my husband and I were so elated over the news our little girl would be just fine and this limb deficiency appeared to be an isolated issue.
Children's and all the staff members work above and beyond their job functions. The staff was caring, loving and compassionate.
The day our beautiful little girl was born all we had to do was welcome her into our family with open hearts full of excitement and love that she as finally here! Our daughter is a remarkable little girl and she has truly enriched our lives.
Thank you Children's for being supportive and noble. You are all beyond amazing. You should all be so proud as you have touched many little lives in so many ways.
Love and friendship,
Sherrie and Louis Juris and Family
The Metras Family
Looking at my 10-month-old pulling up to a stand with his muscle closure still not done, I am amazed at all Dominic can do and how far we have come.
Hearing the news
At 19 weeks, my husband and I were told the words you never want to hear when you are pregnant: "There's a problem with the baby." Our obstetrician went on to tell us that the baby had an omphalocele which is a large hernia in the abdominal wall. But unfortunately it was also tied to Trisomy 13, 18 and many other syndromes. And 50 percent of these babies have other anomalies like heart, spine and kidney defects.
After the pain of two miscarriages this was something we did not want to hear, I felt my world crash around me.
We were immediately scheduled at Brigham and Women's Hospital's high-risk Obstetrics Group for a level 2 ultrasound. After a very long ultrasound we found out our baby boy's complete liver, stomach and some bowel were outside the body located in a sac in the umbilical cord, this was considered a large or giant omphalocele. We then had an amniocentesis and the next day were given the good news that early tests showed no chromosome abnormalities. With this news we were told we would be receiving a phone call from the Advanced Fetal Care Center at Boston Children's Hospital.
More resources and support
Meanwhile I found a wonderful website online The MOOS "Mothers of Omphalocele Babies." They were able to give me so much information and support, that when I came to Children's I was very well-versed in the different procedures that could be used to repair an omphalocele.
"Long Day at Children's"
Luanne P. Nemes, RN, MS, PNP, called the next day to set up what I have dubbed our "Long Day at Children's." She scheduled us for an MRI, Fetal Echocardiogram, surgical consult and genetics consult. Luanne, as much as she couldn't ease my anxiety, was so sweet and understanding, it was wonderful knowing someone was coordinating everything because at that point I could not function.
With the diagnosis of an omphalocele the waiting is agonizing, you can only step forward into the unknown, trusting God, and wait as one of the most amazing hospitals in the world gathers more and more information about your baby.
Our day at Children's was a very long and stressful one, and at the end of the day we had a surgical consult with Luanne, Dr. Rusty Jennings, MD, and Kathy Furlong, MSW, LICSW, the AFCC's social worker. We were told that due to the liver being completely out the only method of treatment was a conservative non-surgical approach called "Paint and Wait."
I was happy because of the websites I had found all showed this method to be less traumatic on the baby. The meeting was filled with so much overwhelming information that tears can't help but come, but we knew we were in the best possible place surrounded by people who would do whatever they could to get us and our baby through this problem.
Dominic enters the world
On May 17, 2005, Dominic Michael arrived to an operating room filled with doctors. Dr. Jennings made sure ultrasound was right there to scan him and make sure his hepatic veins were not being kinked, which can be a problem with omphaloceles containing the liver.
Dominic cried and cried and that is all I wanted to hear, his lungs were working great. Dr. Jennings then wrapped up his "O" and tied it with a blue ribbon!
Dominic was immediately transferred over to the Neonatal Intensive Care Unit at Children's. That very day we convinced my nurse to let me go over for a short visit. Even if I had to sneak out, I was going to see my baby! The many tubes and monitors were stressful but I knew he was being cared for by amazing nurses. The nurses were the only reason I was able to leave that hospital five days later and go home without my baby.
Many babies with an omphalocele have eating issues and get infections from the open omphalocele but at two weeks Dominic was breastfeeding like a champ and had no infections.
Working with Dr. Jennings and the Physical Therapy Department we had a brace made to protect and keep stable Dominic's "O." The brace made me so comfortable holding him and nursing him knowing his "O" was being kept upright and not able to bend and risk kinking the hepatic veins. The brace was a turning point for us because within two days we were out of the NICU and within a week and a half we were home!
Dominic's omphalocele now has complete skin grown over and has shrunk tremendously. On June 19, 2006, we will have muscle closure done and a belly button made.
Thankful for Children's care
Children's and the Advanced Fetal Care Center were instrumental in helping us through this trial. Having met so many women in this same situation, I have seen how blessed we are to have had the Advanced Fetal Care Center. My heart goes out to those that don't have a group like this. They took care of every test we needed, they made sure we were prepared both mentally and physically. Above all they took care of not only the baby but also the parents.
written by Meegan Perkins, on behalf of her family, Shane, Talon & Tristian
A little better than a year ago Shane and I and our 1-year-old son were excited to find out that we were going to have another child. But when we got to our 20 week ultrasound on a Friday in September of 2008, my husband and I were told the words you never want to hear when you are pregnant: "There is a problem with the baby." We were shown spots of fluid in the baby's left lung and were told that it most likely was a CCAM (congenital cystic adenomatoid malformation), an abnormal growth of lung tissue that prevents the normal growth of the lungs.
Our world stood still and all we could think to ask was, "What did I do wrong and why did this happen?" We were assured that it was nothing that we did nor was there anything we could have done to prevent this. We had thousands of questions that needed immediate answers. We were told the soonest we could be seen was on Monday with a specialist in Manchester, NH. This was the longest weekend of our lives, with so many unanswered questions. With support from our family and friends, we knew all we could do until Monday was wait and pray.
Further tests confirmed that it was a CCAM. We had a lot of our questions answered and decided that terminating the pregnancy was totally out of the question. This was our child and we were going to fight for this baby with everything possible. The doctor felt strongly that we could fight this, made no guarantees and described a long road ahead. We were ready and willing to fight; we would do whatever it took.
Testing showed that the CCAM was very large and it was pushing on the baby's diaphragm (causing my fluid to be high) and causing the baby's heart to be pushed to the right side of its body. So not only did we have to focus on the CCAM growth, but we had to watch for hydrops (life-threatening problem of severe swelling in the fetus and newborn), heart failure and pre-term labor.
It was determined that all care would be done at Children’s Hospital Boston at the AFCC (Advanced Fetal Care Center). The first appointment consisted of an MRI to see the size of the CCAM, then we had to have an echocardiogram of the baby’s heart, then an ultra sound and finally to meet with the surgeon Dr. Russell Jennings. This was a very long day but we received a lot of information. The diagnosis showed that the CCAM consisted of cysts (fluid-filled sacs) and was very large. There was also a sequestration - abnormal connection to a main blood vessel that was feeding the growth. There were no guarantees that the baby would survive this, but the doctor was willing to do everything he could for our baby. We felt very comfortable and confident that we were in the right place and our son was getting the best care possible. It was also clear that all of the doctors and staff were there to help and guide us. None of our questions were left unanswered.
Each visit was a relief to hear that the CCAM had not grown from the time before and there were no signs of hydrops or heart failure. Other cases had shown that the CCAM would stop growing at 28 weeks, so each day that we made it through was one day closer to the 28 week mark.
The day that we were told the CCAM was growing again and the baby was just below the line of heart failure was devastating. Again we pulled it together and with the support of our families we moved forward. We were given the option for me to have a shot of steroids that in the past had stopped the growth of the CCAM for a period of time and would help the baby to outgrow the CCAM. At 24 weeks I got my first shot of steroids. The next two weeks showed that the CCAM had stopped growing, an answer to all the prayers. The steroids did exactly what they were suppose to do.
At 26 weeks it was determined that I should have one more shot of steroids. They stopped the growth of the CCAM once again and our baby made it to 28 weeks. It was at this point that they predicted the CCAM would stop growing and it did.
I would continue the trips to Manchester, NH and Boston until the 34 week mark. At 32 weeks I had another MRI at Children's that showed the CCAM was still very large, but the baby was outgrowing it and I could now transfer my visits to Beth Israel Deaconess Medical Center in Boston. Although things had turned around dramatically, we still knew there was a chance the baby would need surgery at birth and we were prepared. Each day and each struggle strengthened not only our hope but our commitment to our child. By now, we knew that he was a boy, and that he was going to make it.
With the skilled care of our team of doctors and nurses ready in case any problems came up, thousands of prayers, and a child that was determined to take his place in our family, Tristian Shane Perkins came into this world on January 22, 2009 weighing in at 9 lbs., 2 oz.
He was monitored the rest of the night in the NICU and was able to come to our room the following morning. Tritsian was doing absolutely fantastic and we got to take him home to New Hampshire two days later. We just couldn’t believe that he was so healthy and strong and we got to take him home so soon.
Tristian had an appointment with Dr. Jennings in July of 2009 and was scheduled for surgery September 3rd, 2009. In this operation, Dr. Jennings would remove the mass from Tristian’s lung. Leaving the mass in place would pose a risk of infection. Also, having surgery at such a young age would allow new lung tissue to grow in the space left by the mass, so there was no question in our minds that this surgery needed to be done.
The day of surgery was the longest day of our lives. The hardest part was to give him up to the doctors and watch them walk away knowing we could not be in the room to comfort him. I knew he was in the best hands and they told me as they took him away, "Don't worry, we will take very good care of him." I trusted them. Tristian was in surgery for five hours and every hour a nurse updated us on his condition. Two days later we got to take him home. We hope that our story has helped anyone reading it know that if you're facing a challenge in your pregnancy or if your ultrasound shows some problems, think of Tristian (and all the other babies and families) and all he went through. Have faith in the doctors and yourself and your families. Most of all, know that babies are a miracle from the beginning to end and miracles happen every day, you just have to have faith.
Tristian just turned 1 on January 22, 2010 and is a very happy and healthy little boy. How far we have come is nothing short of amazing.
We want to thank the Advanced Fetal Care Center team, Dr. Jennings and the surgery team, Dr. Johnson at Dartmouth Hitchcock in Manchester, NH, and Dr. Lim and his team at Beth Israel for the time they spent with us to make sure we had the best care we could possibly have during pregnancy and for a safe delivery. Of course we also want to thank our family and friends for their support and prayers. We could never have done it without you and Tristian is here and healthy because of all of you.
The Peerless Family
From ABC's BostonMed: Peerless family visits the AFCC
For the Peerless family, hearing their son's in utero diagnosis of hypoplastic left heart syndrome was understandably devastating. But if one family had the courage, strength and determination to see their boy survive, it was the Peerlesses. Together with Brigham and Women's hospital, Children's Advanced Fetal Care Center and Children's exceptional Fetal Cardiology Program, this family has made a triumphant journey you need to hear to believe.