National Congenital Diaphragmatic Hernia Awareness Month
Floor Speech
Mr. President, I wish to discuss S. Res. 414. I am pleased the Senate has unanimously declared April as National Congenital Diaphragmatic Hernia Awareness Month for the second consecutive year. I thank my friend and able colleague, Senator Ben Cardin of Maryland, for joining me in this legislation. This resolution is very important to me and my family, as my grandson, Jim Beau, is a CDH survivor.
CDH is a birth defect that occurs when the fetal diaphragm fails to fully develop. The lungs develop at the same time as the diaphragm and the digestive system. When a diaphragmatic hernia occurs, the abdominal organs move into and develop in the chest instead of remaining in the abdomen. With the heart, lungs, and abdominal organs all taking up space in the chest, the lungs do not have space to develop properly. This may cause the lungs to be small and underdeveloped.
A diaphragmatic hernia is a life-threatening condition. When the lungs do not develop properly during pregnancy, it can be difficult for the baby to breathe after birth or the baby is unable to take in enough oxygen to stay healthy.
CDH will normally be diagnosed by a prenatal ultrasound, as early as the 16th week of pregnancy. If undiagnosed before birth, the baby may be born in a facility that is not equipped to treat its compromised system because many CDH babies will need to be placed on a heart-lung bypass machine, which is not available in many hospitals. All babies born with CDH will need to be cared for in a neonatal intensive care unit, NICU, and most will need extracorporeal membrane oxygenation, ECMO.
Babies born with CDH will have difficulty breathing as their lungs are often too small, biochemically and structurally immature. As a result, the babies are intubated as soon as they are born, and parents are often unable to hold their babies for weeks or even months at a time.
Most diaphragmatic hernias are repaired with surgery 1 to 5 days after birth, usually with a GORE-TEX patch. The abdominal organs that have migrated into the chest are put back where they are supposed to be and the hole in the diaphragm is closed, hopefully allowing the affected lungs to expand. Hospitalization often ranges from 3 weeks to 10 weeks following the procedure, depending on the severity of the condition.
Survivors often have difficulty feeding, some require a second surgery to control reflux, others require a feeding tube, and a few will reherniate and require additional repair.
Awareness, good prenatal care, early diagnosis, and skilled treatment are the keys to a greater survival rate in these babies. That is why this resolution is so important.
Within the last year, researchers identified a specific gene that may contribute to CDH. The research found that an abnormality in a gene, Ndst1, could lead to the development of CDH. This study was conducted on mice, so more research is needed to determine the role of this gene in humans. However, it certainly is a step in the right direction toward identifying the cause of this defect.
Congenital diaphragmatic hernia is a birth defect that occurs in 1 out of every 3,817 live births worldwide. The CDC estimates that CDH affects 1,088 babies in the U.S. each year.
Every 10 minutes a baby is born with CDH, adding up to more than 600,000 babies with CDH since just 2000. CDH is a severe, sometimes fatal defect that occurs nearly as often as cystic fibrosis and spina bifida. Yet, most people have never heard of CDH. The cause of CDH is unknown. Most cases of diaphragmatic hernia are believed to be multi-factorial in origin, meaning both genetic and environmental are involved. It is thought that multiple genes from both parents, as well as a number of environmental factors that scientists do not yet fully understand, contribute to the development of a diaphragmatic hernia.
Up to 20 percent of cases of CDH have a genetic cause due to a chromosome defect or genetic syndrome. According to the CDC, babies born with CDH experience a high mortality rate ranging from 20 percent to 60 percent depending on the severity of the defect and the treatments available at delivery. The mortality rate has remained stable since 1999.
Approximately 40 percent of babies born with CDH will have other birth defects in addition to CDH. The most common is a congenital heart defect.
Babies born with CDH today have a better chance of survival due to early detection and research on treatment options. Researchers are making great progress to determine the cause of this birth defect and to identify optimal treatment methods for babies born with CDH.
The Centers for Disease Control and Prevention's National Center on Birth Defects and Developmental Disabilities, NCBDDD and the National Birth Defects Prevention Network, NBDPN, collaborate to identify risk factors for birth defects and to assess the effect of these birth defects on children, families, and the healthcare system. NBDPN investigators are currently working to examine risk factors for CDH and predictors of long-term survival for infants born with CDH, with analysis planned in 2014 and publication anticipated by 2015.
In addition, investigators at the National Birth Defects Prevention Study, NBDPS, have proposed conducting specific research to better understand risk factors for CDH, as well as factors that predict improved survival rates for infants born with CDH.
In fiscal year 2013, NIH funded approximately $2,560,000 in CDH research.
The Developmental Biology and Structural Variations Branch, DBSVB, at the NIH is currently supporting a collaboration between basic scientists who study CDH and clinicians who work with CDH patients and their families by working with the Massachusetts General Hospital and the Children's Hospital of Boston. The researchers then use the genetic information and biological samples obtained from patients and their families to identify specific genes that could be involved in the defect.
In 2009, my grandson Jim Beau was diagnosed with CDH during my daughter Mary Abigail's 34th week of pregnancy. At that time, no one in my family had heard of CDH before. Fortunately, she was referred to Dr. David Kays at Shands Children's Hospital in Gainesville, FL, who is a premier surgeon and expert on CDH.
Jim Beau was born on November 30, 2009. My daughter and her husband Paul heard their son cry out twice after he was born, right before they intubated him, but they were not allowed to hold him.
The doctors let his little lungs get strong before they did the surgery to correct the hernia when he was 4 days old.
It turned out that the hole in the hernia was large. His intestines, spleen and one kidney were up in his chest. The skilled surgeon was able to close the hole and properly arrange the organs. Thankfully, Jim Beau did not have to go on a heart/lung bypass machine, but he was on a ventilator for 12 days and on oxygen for 36 days. In total, he was in the NICU for 43 days before he was able to go home.
He is now a healthy, high-spirited 4-year-old and a delight to be around.
Fortunately for my family and thousands of similar families across the United States, a number of physicians are doing incredible work to combat CDH. The CDH survival rate at Shands Children's Hospital in Gainesville, FL, where my grandson was treated, is one of those fine centers. The survival rate of CDH babies born at Shands is between 80 percent and 90 percent.
Dr. David Kays, the head physician and who performed my grandson's surgeries, uses gentle ventilation therapy as opposed to hyperventilation. Gentle ventilation therapy is less aggressive and therefore protects the underdeveloped lungs.
Dr. Kays published a paper in the Annals of Surgery in October 2013 regarding his work with CDH babies. He and his colleagues reviewed 208 CDH patients to analyze the impact of the timing of the hernia repair on babies born with CDH. This study found that those with more severe CDH may benefit from repair before ECMO, while those with a less severe hernia have higher survival rates and reduced need of ECMO if the repair surgery is delayed at least 48 hours after birth, as was the case with Jim Beau. This conclusion is a vital step in the development of a risk-specific treatment strategy for management of CDH. The final line of Dr. Kays' paper should be noted:
[T]he survival attained in this large and inclusive series of patients with CDH should be reassuring to physicians and parents faced with a new prenatal diagnosis of CDH.
My family was very lucky that Jim Beau's defect was caught before he was born, and that he was in the right place to receive excellent care for his CDH.
The resolution Senator Cardin and I introduced is important because it will bring awareness to this birth defect, and this awareness will save lives. Although hundreds of thousands of babies have been diagnosed with this defect, the causes are still unknown and more research is needed. Every year more is learned and there are more successes. We are making good progress and we must continue our efforts.
I hope my colleagues will join me in supporting this legislation to bring awareness to CDH.
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