Hanscom families help raise awareness of heart defects

  • Published
  • By Sarah Olaciregui
  • 66th Air Base Group Public Affairs
Three years ago, Samantha McMenamy and her husband, Maj. Brian McMenamy, went to a doctor's appointment for a 20-week ultrasound for twins. It was during that time they learned one of their babies had a congenital heart defect (CHD), truncus arteriosus, where a single blood vessel comes out of the right and left ventricles, instead of the normal two.
But this family counted themselves lucky. They knew of the condition in advance, so they were able to prepare for the fact that possibly days after the twins' birth, one of them would need open heart surgery.

According to www.littlehearts.org, congenital heart defects are the number one birth defect and the leading cause of birth defect-related deaths worldwide. Unfortunately, awareness is low. Pregnant women are not routinely tested, and newborns are not routinely screened, for CHDs. Consequently, they often go undetected until sometime after birth. In some cases, they are detected too late.

As a result, CHD Awareness Week is recognized Feb. 7 through 14. This is an annual awareness effort to help educate the public about congenital heart defects. Participants include individuals, local support groups, national and local organizations and congenital cardiology centers around the world.

"One such participant is Little Hearts Inc.," McMenamy said. "I am a member of Little Hearts, which is an organization that has provided support and education to our family since CHD changed our lives."

Little Hearts is a national organization providing support, education, resources, networking and hope to families affected by CHD, according to their website. It was founded in 1998 by Lenore Cameron after her son was born with a CHD.

Soon after the twin boys were born, Daniel McMenamy did have his first open heart surgery.
"Since then, Daniel has had his second open heart surgery at 18 months to replace a conduit in his heart," she said. "He's thriving and doing well and our hope is that his next surgery will not be for many years."

Other Hanscom families have experienced CHD, as well.

Ashley Auzenne and her husband, Murvin, a member of the Coast Guard, found out when she was about 16 weeks pregnant that their son, Parrish, had hypoplastic left heart syndrome. This defect occurs in about 1 in 10,000 live births, and without medical intervention is 100 percent fatal.

"He underwent his first open heart surgery at 7 days old, his second at 5 months, followed by a stroke and, finally, his last open heart surgery was in June 2011, just after he turned 3 years old," said Auzenne.

Parrish has been doing great since the operation, according to his mother, and is receiving follow up care at Boston Children's.

"He will most likely need a transplant when he is a teenager," she said. "He is a very happy, outgoing little guy who loves life and has really adjusted well to life here in Massachusetts."

Katherine Bauch and her husband, Capt. Robert Bauch, never dreamed their first child would be anything less than perfect.

"When the doctors informed us that Marie-Claire, our beautiful 4-week-old daughter, would need an ultrasound of her heart because they were concerned with how her heart was sounding with the stethoscope, we were in shock," Bauch said.

The ultrasound revealed that Marie-Claire had a very serious congenital heart condition, and her specific heart condition, pulmonary stenosis and supravalvular aortic stenosis, was associated with a genetic disorder known as William's Syndrome.

Bauch explained that William's Syndrome occurs in 1 out of every 10,000 births. At conception, about 20 genes on the seventh chromosome are randomly deleted. One of the genes that is deleted is responsible for giving the blood vessels in the body their elasticity.

"Because people with William's Syndrome are missing this gene, the blood vessels in and around their heart tend to become narrowed or small," she said. "This causes the heart to work extra hard to perform its job and if left untreated, the result can be fatal."

At 10 months old, Marie-Claire will have her first heart surgery. It will take place later this month.

"It is not my goal for expecting parents to become fearful, but rather informed," Bauch said. "I believe that by shedding light on this serious topic precious lives could be saved."

For further information about CHDs, visit the Centers for Disease Control website at www.cdc.gov/Features/HeartDefects/. Some Hanscom families with CHD members, as well as other special needs, meet from time to time to share their experiences. Anyone interested in joining the group may contact Sam McMenamy at sam.mcmenamy@yahoo.com.

CHD Facts from Little Hearts
· Congenital heart defects (CHDs) occur when a baby's heart fails to form properly during early pregnancy. In most cases the cause is unknown, although scientists feel both genetic   and environmental factors play a role.
· Some environmental factors that increase the risk of CHDs include the mother's use of cocaine, alcohol or certain medications while pregnant. Some maternal medical conditions, such as diabetes, may also increase risk.

· CHDs are the most common birth defect and the leading cause of birth defect-related deaths.

· CHDs occur more often than spina bifida, down syndrome or hearing loss and kill twice as many children as childhood cancer.

· It is estimated that 40,000 babies with CHDs are born in the United States each year. That's one in every 125 babies.

· Although some babies will be diagnosed at birth, newborns are not routinely screened for CHDs and pregnant women are not routinely tested for CHDs.

· There are approximately 35 different types of congenital heart defects.

· Some CHDs may be treated with surgery, medicine and devices, such as artificial valves and pacemakers. In the last 25 years, advances in the treatment of heart defects have enabled half a million U.S. children with serious CHDs to survive into adulthood.

· Many cases of sudden cardiac death in young athletes are caused by undiagnosed CHDs and childhood-onset heart disease.

· Early detection is critical to the successful treatment of CHDs. Some heart defects can be detected by a routine ultrasound, but the most effective prenatal test is an echocardiogram performed by a pediatric cardiologist.