[Congressional Record (Bound Edition), Volume 160 (2014), Part 5]
[Senate]
[Pages 6186-6187]
[From the U.S. Government Publishing Office, www.gpo.gov]




        NATIONAL CONGENITAL DIAPHRAGMATIC HERNIA AWARENESS MONTH

  Mr. SESSIONS. 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.

[[Page 6187]]

  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.

                          ____________________