Victory~One Step at a Time

This is  a victory for every CHD (Congenital Heart Defect/Disease) child and their parents and for adults living with CHD. Thank you to those moms, like Kristine, who have fought on behalf of their children (like little Cora) to get better recognition of and screening for CHDs in newborns!

Advisory Committee on Heritable Disorders in Newborns and Children

Letter to the Secretary, U.S. Department of Health and Human Services


October 15, 2010
The Honorable Kathleen Sebelius
Secretary of Health and Human Services
200 Independence Avenue, S.W.
Washington, DC 20201

Dear Secretary Sebelius:

The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (the Committee) is charged with making systematic evidence-based and peer-reviewed recommendations that include the heritable disorders that have the potential to affect public health significantly, for which all newborns should be screened. Thus far, nine conditions have been sent to the Committee for consideration of an evidence review and for consideration for addition to the Committee’s Recommended Uniform Screening Panel. In May 2010, Severe Combined Immunodeficiency (SCID) was added to the panel. During the May 13-14, 2010 Committee meeting, the Committee voted to not recommend the addition of Hemoglobin H to the Panel. At the Committee’s most recent meeting on September 17, 2010, the Committee reviewed a final draft report of the evidence review for Critical Congenital Cyanotic Heart Disease and voted to add this disorder to the Panel.

Congenital Heart Disease is an overarching term describing a spectrum of clinical outcomes derived from any number of defects that are present in the structure of the heart at birth. Specific defects may involve the interior walls of the heart, valves inside the heart or the arteries and veins that carry blood to the heart or out to the body. These varied congenital defects change the normal flow of blood through the heart, leading to a range of conditions and symptoms. Congenital Heart Disease affects about 7 to 9 of every 1000 live births in the United States and Europe and is the most common cause of death in the first year of life, with defects accounting for 3% of all infant deaths and more than 40% of all deaths due to congenital malformations. Critical Congenital Heart Disease is a group of defects that cause severe and life-threatening symptoms and require intervention within the first days or first year of life.

Current methods for detecting Congenital Heart Disease generally include prenatal ultrasound screening and careful and repeated clinical examinations, both in the nursery and as part of routine well-child care. Critical Congenital Heart Disease is often missed during the routine clinical exam that generally is scheduled prior to a newborn’s discharge and many cases of Critical Congenital Cyanotic Heart Disease are missed by discharge and post-discharge clinical exams. A large epidemiological population-based study showed that 78% of cases with hypoplastic left heart syndrome (HLHS) were discharged from hospital before diagnosis. HLHS is universally fatal without surgical intervention, sometimes within the first days of life, and the vast majority of deaths in this patient population occur within the first months of life. Fetal ultrasound screening programs improve detection of major congenital heart defects; however, prenatal diagnosis alone picks up less than half of all cases.

Newborn screening using pulse oximetry for detecting Critical Congenital Cyanotic Heart Disease was examined by the Committee’s evidence review workgroup. Pulse oximetry is a method to augment current approaches (clinical exam and prenatal ultrasound) for the detection of Critical Congenital Cyanotic Heart Disease. Newborn screening using pulse oximetry is a test that occurs at the bedside (in the nursery or otherwise) similar to newborn screening for congenital hearing impairment. Pulse oximetry is a non-invasive test that estimates the percentage of hemoglobin in blood that is saturated with oxygen. While some types of Critical Congenital Heart Disease may present with hypoxemia, they do so only some of the time and are therefore less likely to be detected by pulse oximetry screening. Neonates with abnormal pulse oximetry screening results need confirmatory testing for the cause of the cyanosis, and immediate intervention. Virtually every hospital, even small ones, frequently uses pulse oximetry as a standard of care in their newborn nurseries.

When developing its recommendations to the Secretary, the Committee considers the nature of the science itself underlying the potential additions of the technology and the heritable conditions to the Committee’s Recommended Uniform Screening Panel as well as the public health implications of implementation. Although there are recognizable evidence gaps (for example, standardization of screening protocol) there are compelling reasons for recommending screening newborns for Critical Congenital Cyanotic Heart Disease.

The Committee therefore recommends the addition of Critical Congenital Cyanotic Heart Disease to the Committee’s Recommended Uniform Screening Panel with the understanding that the following activities will also take place in a timely manner:

1. The National Institutes of Health shall fund research activities to determine the relationships among the screening technology, diagnostic processes, care provided, and the health outcomes of affected newborns with Critical Congenital Cyanotic Heart Disease as a result of prospective newborn screening;

2. The Centers for Disease Control and Prevention shall fund surveillance activities to monitor the Critical Congenital Cyanotic Heart Disease link to infant mortality and other health outcomes;

3. The Health Resources and Services Administration shall guide the development of screening standards and infrastructure needed for the implementation of a public health approach to point of service screening for Critical Congenital Cyanotic Heart Disease; and

4. The Health Resources and Services Administration shall fund the development of, in collaboration with public health and health care professional organizations and families, appropriate education and training materials for families and public health and health care professionals relevant to the screening and treatment of Critical Congenital Cyanotic Heart Disease.

The Committee fully recognizes that the various Agencies within HHS determine and carry out their missions within their goals and the budgets which they have available.

Sincerely yours,
R. Rodney Howell, M.D.
Chairperson

Source:
http://www.hrsa.gov/heritabledisorderscommittee/correspondence/October15th2010letter.htm
The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) was chartered in February 2003 to advise the Secretary regarding the most appropriate application of universal newborn screening tests, technologies, policies, guidelines and standards for effectively reducing morbidity and mortality in newborns and children having, or at risk for, heritable disorders. SACHDNC assists the Secretary, U.S. Department of Health and Human Services, specifically by providing:
-advice and recommendations concerning the grants and projects authorized under the Heritable Disorders Program;
-technical information to develop policies and priorities for this program that will enhance the ability of the State and local health agencies to provide for newborn and child screening, counseling and health care services for newborns and children having or at risk for heritable disorders; and
-recommendations, advice or information that may be necessary to enhance, expand or improve the ability of the Secretary to reduce the mortality or morbidity in newborns and children from heritable disorders.
 

Please visit this site to learn more about what tests should be done on your newborn prior to you checking out of the hospital. You can also learn more about CHDs as well read other helpful facts for any expecting parents at Cora's Story.

The Post Every Pregnant Woman Should Read...

...This post is courtesy of Cora's Story and written by Cora's mom & my friend, Kristine. But I agree: definitely a post every pregnant woman (or even any woman thinking of getting pregnant) should read:

The post every pregnant woman should read.

by Kristine Brite McCormick

I decided to write it all down. Everything I wished I'd known about the most common birth defect. I know when I was pregnant, reading information about SIDS or car seat safety was tough, but after realizing that knowledge might save my child's life should they have one of those conditions, I powered through.


Reading about CHD is something every pregnant woman should take a few moments to do. Knowing the signs and symptoms and researching detection methods saves lives.

I know sharing Cora's Story with pregnant friends and family isn't always easy. But, I hope that you'll help. That you'll share this post (share on Facebook or Twitter). No family should ever be blindsided by the most common of all birth defects, occurring in about 1 in 100 births. Just remember, I'm not a doctor. Just a mom.

I present to you, a crash course in congenital heart defects (CHD), or what I wished I'd known about CHD before giving birth.

I found out after my daughter died that she had a congenital heart defect. When I first heard about it, I thought it must be something rare, for me, an educated woman that read everything I could while pregnant to no nothing about it. Turns out, it's not rare at all as far as medical issues in children go. Congenital heart defects are a leading cause of death in children and infants.

Some places, name CHD as the leading cause of death in infants. But, and this is a huge but, most CHD children live. In fact, medicine has improved outcomes for these patients so well, that more adults currently live with CHD than children. It's a hidden disability for these adult and children patients.


About CHD


Over 35 different types of CHD are known, and each defect looks a bit different in each patient. So, each CHD heart is like a snowflake, no two alike. Chances are you know someone with a CHD. Some defects require nothing but an extra doctor's visit every few years, while some are more serious and require a series of surgeries. Often someone figures out that they or their child has a CHD after talking to me about Cora's story. They just weren't aware because the doctor never used the term "congenital heart" with them.


While we're on the subject, congenital heart means simply born with, so a person with CHD is always born with the issues.


The exact cause of CHD isn't know. There's a genetic link, but CHD can happen to anyone. For example, there's no known CHD background on either side of Cora's family.

Nothing detects congenital heart defects all the time. But, early detection improves outcomes. The defects can go undetected into adulthood.


There's not really a cure for CHD either. Surgery can mend the heart and medications can keep things under control.

This makes CHD even more scary. Awareness doesn't mean much unless there's a reason to make everyone aware. And, there are things that pregnant woman can do to reduce the odds of having a CHD baby, having a child go undetected, and picking up on the signs of a CHD.


While Pregnant

Take a folic acid supplement. In fact, talk to your doctor about starting this before you're pregnant. There's a link to folic acid deficiency and CHD.


Don't smoke even if you're thinking about getting pregnant. Quitting when you find out isn't really an option. The heart develops early in pregnancy.

You know the ultrasound? The big one around 20 weeks where you find out if you're having a boy or girl? It's also to look at the baby's development. Ask your ultrasound technician about the heart and if all chambers are present.


After Birth


Ultrasounds, fetal echos, and doctor suspicion after noticing irregular in utero heart rates all lead to detection. But, many defects aren't found until later.


Ask if the doctors or nurses hear a murmur. A murmur often occurs and can be harmless, but can signal something else.

Request your child be screened with pulse oximetry after 24 hours of life. Your baby should be calmed and anything below a 95 might signal a need for extra testing. Talk to your doctor about adding the pulse oximetry in while your child is at the hospital. Some hospitals routinely use this simple, cheap, noninvasive test, but others don't. This easy test saves lives. Ask for it.

Memorize warnings signs of a possible congenital heart defect. In a newborn, dusky coloring, turning blue, trouble feeding, rapid breathing, sweating along the forehead, and tiring easily are warning signs. Report any symptoms to a doctor and request an examination.


Please share this important post to bring us one step closer to making sure every mother, father, and expecting parent knows about the most common birth defect.

Follow Cora's Story here:

 

 

or here:

                       

 

Thank you, Kristine, for taking the time to write this & to inform people of

some of the "basics" of CHD!

I love and admire you greatly!!!