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Oh my.  Just got this today – we understand the newsletter also goes to pediatricians and cardiologist around the country.  So proud of our little Eve.  She has done some wonderful things in her short time here…thank you University of Minnesota Amplatz Children’s, Mayo Health System, Children’s Hospitals, Regions Hospital and Minnesota Department of Health for all you have done to make sure babies don’t go home with undiagnosed heart defects.  Rockstars.  All of you…

file:///Users/annamarie/Desktop/UMACH_CVHeartCenter_v5.pdf

The Internet Encyclopedia of Science has gathered what may be the most compact, yet comprehensive chunk of helpful info on congenital heart defects ever assembled.  It’s easy to read, easy to understand and provides a launching pad for those new to pediatric heart disease.  Know more.  Do more.

congenital heart defects

• Slow down
• Go in the wrong direction or to the wrong place
• Be blocked completely

Congenital heart defect is the most common type of major birth defect. Each year, more than 40,000 babies in the United States are born with congenital heart defects.

Types of congenital heart defects

There are many types of congenital heart defects. They include:

• Abnormal passages in the heart or between blood vessels
• Problems with the heart valves
• Problems with the placement or development of blood vessels near the heart
• Problems with development of the heart itself

Some of these problems are described below.

Abnormal passages in the heart or between blood vessels

• Atrial septal defect (ASD) is a hole in the wall that separates the upper chambers, or atria, of the heart. This causes blood to leak from one atrium to the other.
• Ventricular septal defect (VSD) is a hole in the wall that separates the lower chambers, or ventricles, of the heart. This causes blood to leak from one ventricle to the other.
• Atrioventricular septal defect (AVSD) includes an ASD, VSD, and abnormal development of the atrioventricular valves (tricuspid and mitral). This causes blood to flow abnormally inside the heart. An AVSD is also known as an atrioventricular canal defect.
• Patent ductus arteriosus (PDA) is a persistent connection between the aorta and the pulmonary artery. This connection is called the ductus arteriosus and is normally present before birth. In most babies, the vessel closes within a few hours or days after birth. In some children, the vessel fails to close, resulting in PDA.

Problems with the heart valves

Congenital heart defects can involve any of the valves and include the following types of problems:

• Stenosis. The valve opening is narrow and does not open completely.
• Atresia. The valve does not form, so there is no opening for blood to pass from one chamber to another.
• Regurgitation. The valve does not close completely, so blood can leak back through the valve.

Examples of particular heart valve problems include:

• Aortic valve stenosis is a narrowing of the aortic valve in the heart that causes it to open incompletely. This can reduce blood flow to the body.
• Pulmonary valve atresia is a defect in which a solid sheet of tissue forms in place of the pulmonary valve. This prevents blood in the right side of the heart from traveling normally to the lungs to pick up oxygen.
• Pulmonary valve stenosis is a narrowing of the pulmonary valve. The narrowing slows the flow of blood from the right side of the heart to the lungs. The heart must pump harder to push blood through the smaller opening.
• Tricuspid valve atresia is a defect in which a solid sheet of tissue forms in place of the tricuspid valve. Without the tricuspid valve, blood entering the right atrium cannot travel normally to the right ventricle and then to the lungs to pick up oxygen.
• Ebstein’s anomaly is a defect in which the tricuspid valve is both displaced and abnormally formed. The valve leaks and allows blood to flow back into the right atrium instead of to the lungs to pick up oxygen.

Problems with placement or development of blood vessels near the heart

• Transposition of the great vessels is a defect in which the location of the “great vessels” (the aorta and pulmonary artery) coming off the heart is switched. The aorta comes off the right ventricle instead of the left ventricle. The pulmonary artery comes off the left ventricle instead of the right ventricle. Therefore, blood without oxygen is continually pumped to the body, instead of blood with oxygen.
• Tetralogy of Fallot is a combination of four defects:
  • Pulmonary valve stenosis is the narrowing of the pulmonary valve. The narrowing slows the flow of blood from the right ventricle to the lungs.
  • VSD is a hole in the wall that separates the left and right ventricles.
  • Overriding aorta is a defect in which the aorta is positioned between the left and right ventricles, over the VSD.
  • Right ventricular hypertrophy is the thickening of the right ventricle. The thickening is caused by the heart having to work harder because of the other defects.
• Truncus arteriosus is a defect of the great vessels. The aorta and pulmonary artery do not form as separate arteries. Instead, a large artery, called the truncus, comes from the heart. As the truncus leaves the heart, it may branch into arteries that carry blood to the body and to the lungs.
• Coarctation of the aorta is a narrowing of the aorta. It slows or blocks the flow of blood from the heart to the body.
• Anomalous pulmonary venous return is a defect in which one or more of the four pulmonary veins, which normally return oxygen-rich blood from the lungs to the heart, return to the wrong chamber in the heart.

Problems with development of the heart

• Hypoplastic left heart syndrome is a combination of defects in which the left side of the heart does not develop properly. Defects usually include mitral atresia, aortic atresia, and a tiny left ventricle.
• Mitral atresia occurs when a solid sheet of tissue forms instead of the mitral valve, which separates the left atrium and the left ventricle.
• Aortic atresia occurs when a solid sheet of tissue forms instead of the aortic valve, which separates the left ventricle from the aorta.
• Single ventricle describes a group of heart defects in which only one ventricle is present instead of two. It can be a single right or a single left ventricle. The other ventricle is usually absent or very tiny. Hypoplastic left heart syndrome is an example of a single ventricle defect.

Today, the outlook for an infant born with a heart defect is much better than it was 30 years ago. Rapid advances in infant and childhood surgery, better tests, and new medicines help most children with congenital heart defects. Many children born with more complex or severe heart defects now reach adulthood. Today, there are more than 1 million adults living with congenital heart defects.

What causes congenital heart defects?

Doctors do not know what causes most cases of congenital heart defects. Heredity may play a role. In rare cases, more than one child in a family is born with a heart defect. Also, parents who have a congenital heart defect may be more likely than other parents to have a child with the condition.

Babies who have certain other birth defects, such as Down’s syndrome, are also more likely to have congenital heart defects.

Other factors that raise the risk for congenital heart defects are:

• Having viral infections, such as German measles (rubella), during pregnancy
• Having diabetes
• Taking some types of prescription or over-the-counter medicines during pregnancy
• Being repeatedly exposed to some chemicals or X-rays during pregnancy
• Using alcohol or street drugs during pregnancy

Research continues to find the causes of congenital heart defects.

Signs and symptoms of congenital heart defects

The most common signs and symptoms of congenital heart defects are:

• A heart murmur
• A bluish tint to skin, lips, and fingernails (“blue baby”)
• Fast breathing
• Shortness of breath
• Poor feeding, especially in infants because they tire easily while nursing
• Poor weight gain in infants
• Tiring easily during exercise or activity (older children)

The signs and symptoms that a child has depend on:

• The number and types of defects
• The severity of the defect

Some infants and children have no signs or symptoms. Others have severe or life-threatening symptoms.

Many types of congenital heart defects cause the heart to work harder than it should. This stresses the heart and can lead to heart failure, causing the heart muscle to weaken and the heart to enlarge.

Diagnosis

Doctors usually diagnose congenital heart defects during pregnancy or within the first few months after birth. Some children with less severe defects are not diagnosed until they are older and more demands are put on their hearts. Others are not diagnosed until they are adults.

If your child’s doctor suspects a congenital heart defect, he or she will refer your child to a specialist who treats heart problems in children. The specialist, a pediatric cardiologist, will take a family and medical history, do a physical exam, and order several tests.

Physical exam

During the physical exam, the doctor:

• Listens to your child’s heart with a stethoscope for a heart murmur
• Looks for signs of illness or physical problems, such as bluish color of skin and lips, shortness of breath, rapid breathing, and delayed growth Listens to your child’s lungs

Tests

An echocardiogram, which is harmless and painless, uses sound waves to create a moving picture of your child’s heart. During an echocardiogram, reflected sound waves outline the heart’s structure completely. The test allows the doctor to clearly see any problem with the way the heart is formed or the way it’s working. An echocardiogram is the most important test available to your child’s cardiologist to both diagnose a heart problem and follow the problem over time. In children with congenital heart defects, an echocardiogram will outline each problem with the heart’s structure and show how the heart is reacting to these problems. The echocardiogram will help your child’s cardiologist to know if and when treatment is needed.

During pregnancy, if your doctor suspects that your baby has a congenital heart defect, a special test called a fetal echocardiogram can be done. This test uses sound waves to create a picture of the baby’s heart while the baby is still in the womb. The test is usually done during the fifth month of pregnancy. If your child is diagnosed with a congenital heart defect before birth, your doctor can plan treatment before the baby is born.

Other tests used to help diagnose congenital heart defects include:

• EKG (electrocardiogram). An EKG test measures the rate and regularity of your child’s heartbeat.

• Chest X-ray. A chest X-ray takes a picture of your child’s heart and lungs. It can show if the heart is enlarged or if there is fluid in the lungs.

• Pulse oximetry. This test uses a sensor to see how well your child’s lungs are passing oxygen to the blood and whether there is any mixing of oxygen-rich and oxygen-poor blood. The sensor is placed on the child’s fingertip or toe (like an adhesive bandage). A small computer unit shows the amount of oxygen in the blood through the skin. The test does not hurt.

• Cardiac catheterization. In this test, a thin flexible tube is passed through an artery or vein at the upper thigh (groin) or in the arm to reach the heart. With the assistance of X-rays, the doctor can then see your child’s blood vessels and heart. The catheter also measures the pressure inside the heart and blood vessels and can determine if blood is mixing between the two sides of the heart. Sometimes, a dye that can be seen by X-ray is injected into the heart. This enables the doctor to see the flow of blood throughout the heart and blood vessels.

Treatment

Doctors treat congenital heart defects with:

• Medicines
• Special procedures using catheters
• Surgery
• Heart transplants

The treatment your child receives depends on the type and severity of the defect. Other factors include your child’s age, size, and general health. Treatment can be simple or very complex. Many children are treated with medicines and are monitored by their doctor. Other children may need surgery.

Medicines

Your child may take one or more of the following medicines to help the heart work better and lessen symptoms: Digoxin is thought to improve heart function and can keep the heartbeat regular. Diuretics treat the buildup of fluid in the heart and body. ACE inhibitors decrease the work the heart has to do and may help remodel the heart and blood vessels to work more efficiently. Beta blockers slow the heart rate and lower blood pressure to decrease the workload on the heart. Inotropes strengthen the heart’s pumping ability. Prostaglandin E1 is used to keep the ductus arteriosus open in some defects until corrective surgery can be carried out. This improves blood flow and oxygen levels until the defect is corrected. The ductus arteriosus normally closes within a few days after birth.

Special procedures using catheters

Doctors can correct some congenital heart defects during cardiac catheterization. These are called catheter-based procedures or interventions. They can be used instead of open-heart surgery, which is a major operation. A catheter is inserted through a blood vessel in your child’s groin. It is then threaded to the heart, where some holes in the interior walls of the heart can be fixed, a patent ductus arteriosus can be closed, and narrow valves and blood vessels can be opened up. Cardiac catheterization:

• Does not require your child’s chest to be opened
• Lets your child recover quickly
• Has different risks than open-heart surgery

Surgery

Your child may need open-heart surgery if the defect can’t be repaired using a catheter-based procedure. Some surgeries repair the defect completely. Other surgeries improve the child’s health but do not completely repair the defect. Open-heart surgery may be done to:

• Close holes with stitches or with a patch
• Repair valves
• Widen arteries or openings to valves
• Put the great vessels (aorta and pulmonary artery) in their correct positions

Sometimes, open-heart surgery can improve a child’s health but not repair the problem. Examples include:

• Decreasing blood flow to the lungs by placing a band around the pulmonary artery
• Increasing blood flow to the lungs by connecting an artery from the aorta to the pulmonary artery
• Connecting the veins that bring oxygen-poor blood directly to the pulmonary artery in a three-stage surgery when the right ventricle is not developed (for example, hypoplastic left heart syndrome)

Heart transplants

Babies born with multiple defects that are too complex to repair may need a heart transplant. In this procedure, the child’s heart is replaced with a healthy heart that has been donated.

How can congenital heart defects be prevented?

There is no known way to prevent congenital heart defects, but there are things you can do to lower the chance that your baby will have a congenital heart defect. However, even after you lower the risks, your baby may still develop a congenital heart defect.

If you are planning to become pregnant or are pregnant, talk to your doctor about any medicines that you are taking, including:

• Over-the-counter medicines
• Prescription medicines
• Vitamin and mineral supplements
• Herbal supplements

Your doctor will recommend that you take folate before you become pregnant. This is recommended mainly to prevent abnormalities in the baby’s nervous system, and there is some evidence that it may also help prevent certain types of congenital heart defects.

You should avoid:

• Strong chemicals, including some cleaning products
• Repeated exposure to X-rays
• Any harmful or poisonous materials.

If you or anyone in your family has congenital heart disease, genetic testing may be available. This may show a genetic cause for congenital heart disease. Testing cannot prevent congenital heart disease, but may be able to make you aware of the risks.

Living with a congenital heart defect

With new advances in testing and treatment, most children with congenital heart defects grow into adulthood and live productive lives. Some continue to need specialized care for survival and to maintain a good quality of life. Some may need multiple procedures, including cardiac catheterizations and surgeries. Others may need pacemakers to help their hearts beat properly.

Parents

Mothers of children born with a heart defect often think that they did something wrong during pregnancy to cause the problem. The cause of most cases of congenital heart defects is unknown. It is important that mothers know that they did not cause their child’s illness.

Most children with congenital heart defects grow up to a healthy adulthood. Only children with complex heart defects may continue to need special medical attention into adulthood.

Treatment and care for your child may be costly. The cost of surgery and hospital stays is very high. Your health insurance may not pay for everything. Some parents may need help in paying medical bills. You can get information from your doctor and hospital about how to apply for financial aid.

It is important to keep your health insurance current. If you change jobs, make sure that the new health insurance will cover your child who has a congenital heart defect. Some health insurance plans may not cover some medical conditions that you or your covered family member had before joining the new plan.

It is also very important for your child to have health insurance as adulthood approaches. Review your current health insurance plan. Find out how coverage can be extended to your child beyond the age of 18. Some policies may allow you to keep your child on your plan if he or she remains in school or is disabled.

Caring for a child with a serious heart problem can be demanding. If both parents work, one of them may have to quit and stay home with the child if suitable day care can’t be found. The drain on energy, emotions, and finances can be very stressful. Ask your child’s doctor about support groups and other types of support in your area. Seek counseling if the stress is overwhelming.

General issues

It is important for your child to have ongoing regular medical care. This includes:

• Following up with your child’s heart specialist as directed
• Following up with your child’s pediatrician or family doctor for routine exams
• Taking medicines as prescribed

You may consider having your child wear a medical alert bracelet or necklace. This tells anyone caring for your child that your child has a congenital heart defect.

Adults, teenagers, and children should have routine dental care to prevent infections of the mouth. Most people with congenital heart defects need to take antibiotics before a dental procedure, treatment, or cleaning. Talk to your doctor before going to the dentist.

Children with congenital heart defects

Some children with congenital heart defects do not grow and develop as fast as other children who are the same age. Your child may be smaller and thinner than other children. Your child may also start activities such as rolling over, sitting, and walking later than other children. After treatments and surgery, growth and development often improve.

Your child may need extra calories to grow. If your child’s heart has to pump faster because of the defect, the body needs more energy to keep up the extra work. This may cause your child to tire quickly. Some babies are not able to eat enough because they tire while feeding. Older children also may tire before finishing a meal.

Exercise for children

Exercise helps children strengthen their muscles and stay healthy. Your child may tire easily, so he or she should rest or take frequent breaks during activities, if necessary. Some children with congenital heart defects may need to limit the amount or type of exercise they do. Talk to your doctor about what is safe exercise for your child.

Remember to ask your doctor for a note for school and other organizations describing any limits on your child’s exercise or physical activities.

Emotional issues for children

Children with a serious heart problem may have a hard time coping or may feel isolated if they have to be in the hospital frequently. Some children feel sad or frustrated with their body image and their inability to be a “normal” kid. Sometimes brothers or sisters are jealous of all the attention received by the child with a congenital heart defect.

Parents may feel stress over financial and insurance issues. Your child may feel that he or she is the cause of this stress. Help your child by talking to him or her, and allow your child to be involved in everyday activities. If you have concerns about your child’s emotional health, talk to your child’s doctor.

Teenagers with congenital heart defects

The teenage years are difficult for most children. It is a time of risk taking, and denial is often used as a way of coping. There is pressure to be like other teenagers. Some teenagers with congenital heart defects still need specialized care and must take medicine on a regular basis. Help your teenager cope with the stresses of growing up with a serious health problem. Remind your teenager that, with proper care, he or she can grow up healthy and participate in most, if not all, activities.

Let your teenager help make decisions about medical care. This fosters independence and encourages regular followup with the doctor.

Many teenagers with congenital heart defects can participate in organized sports. Restrictions of activity vary depending on the teenager, the type of sport, and the type of heart defect. Some children may need to limit the amount of activity, and others may need to avoid contact sports. Your doctor can help you and your teenager decide which activities are right for him or her.

Overall, parents should be aware that the majority of children born with congenital heart defects live normal, healthy lives and should be encouraged to do so.

Adults with congenital heart defects

Today, most babies born with heart defects will live to be adults. Many of these adults believe that the surgery they had in childhood was a “cure” and may not realize that regular medical followup is needed to survive and maintain good health.

When thinking about changing jobs, adults with congenital heart defects should carefully consider the impact on their health insurance coverage. Some health plans have waiting periods or clauses to exclude some kinds of coverage. Before making any job changes, find out if the change will affect your health insurance coverage.

There are laws that protect people with congenital heart defects who are having trouble getting a job. The Americans with Disabilities Act and Work Incentives Improvement Act try to ensure equal hiring for all people, including those with health conditions.

Pregnancy and congenital heart defects

Women with congenital heart defects who want to become pregnant (or who are pregnant) should:

• Talk to their doctor about health risks during pregnancy
• Talk to their doctor about medicines that can be taken during pregnancy
• Consult with specialists who take care of pregnant women with congenital heart defects

This gorgeous little girl is Taryn Kennedy.  She was happy, healthy, growing until almost one month old.  Her parents didn’t see it coming, and she was lost to an undiagnosed heart defect – TAPVR – at 29 days old.  I stood next to her mom, Vi Kennedy (blessherheart.org), just two weeks ago at the national advisory committee meeting evaluating newborn screening for Critical Congenital Heart Defects.  She is eloquent and brave…and she is not alone.

I sent this via email to the members of our Minnesota pulse ox pilot team about 6 weeks ago.  Thought it was worth posting here.  I am amazed by the continuity and consistency of the data that comes in regarding newborn screening for CCHD.  I get that we have a bias…but the facts are simply becoming far to difficult to argue with.  As Dr. Martin put it to the national committee “these are not isolated incidents, babies are missed all the time…”   Feel free to add your comments or feedback – the armor gets stronger every day.  Here’s the email:

Wanted to share this with you.  They are the top 8 defects – in order of prevalence – that are the most often missed during routine newborn exam alone (these come from Dr. Hoffman’s recent paper and gathered study data).  Below that are some of the responses heart families posted on what their undiagnosed defects were…on our Facebook page alone, we got over 2 dozen responses in a matter of a few hours.  I may post again to see what additional feedback comes in.  Would be interested to hear if anything hear strikes you as unusual (other than an HLHS baby going undiagnosed for 2 months!)   Annamarie

1. Coarctation of the Aorta (COA)

2. Interrupted aortic arch

3. Aortic stenosis

4. Hypoplastic Left Heart Syndrome (HLHS)

5. d-TGA

6. Truncus arteriosus

7. Tetralogy of Fallot (TOF)

8. TAPVC

RESPONSES:

1. Marlee had an Interupted Aortic Arch and a VSD and wasn’t diagnosed until she was 2 days old and her PDA was closing!

2. My son had d-TGA with a VSD. Dx at 5 days old!!!

3. The defects listed are critical when the children’s lives depend on the ductus staying open. This is why I would like to follow the pulse ox push before discharge with a pulse ox at the pediatrician’s office on day three. There will be many, many more caught if we can do both (posted by a former NICU nurse in Tennessee)

4. They didn’t catch Lauren’s HLHS in utero. We didn’t know something was wrong until about 19 hours after she was born when she stopped nursing. The surgeon told us later they may have missed it because her left ventricle is 60% the size it should be, which is large for HLHS. At one point, they even considered trying to let her use the left ventricle, but they decided against it.

5. They didn’t catch Brayden’s TOF in utero. Diagnosed at 3 days old.

6. None of Caylen’s defects including heterotaxy, dextrocardia, TGA, av discordance (just some of the major defects) were seen in utero. It took them three days just to figure out all her defects and diagnose her.  I love the pulse ox campaign, though, to catch all the ones who don’t show up as dramatically as hers did after she was born. I push it to everyone. My brother is a respiratory therapist in a NICU and he’s pushing the idea, too.

7. My daughter’s TOF was diagnosed at three days old…we knew something wasn’t right because her murmur was SO loud but, nothing was ever picked up in utero.

8. My son was born with a vsd, pds, asd, and an extra mass in his heart.. and he was born with heterotaxy and polysplenia syndrome and we didn’t find out until he was 2 months old because he was breathing fast. I took him to the emergency room and that’s how we found out…we were in total shock.

9. My daughter’s TOF was caught by a nurse who heard the very loud murmur AFTER the doc wrote our discharge orders for home. We were literally 10 minutes away from going home. An OB/GYN did our US at 18 weeks and couldn’t get the blood flow. I will always wonder if someone else would have detected the TOF. I’m all for the pulse ox and blood pressure check on upper and lower extremities.

10. I had 5 sonograms – and none caught Dom’s CHD (coarctation of the aorta, biccupsid aortic valve, mitral valve stenosis). The only reason why it was caught before we went home because we were in NICU because they thought he had an infection and he was getting antibiotics. They heard the mumur when he was 4 days old and did the echo just as procedure. I was told that if it wasn’t caught then, I would have been back in the hospital before 2 weeks was up with Dom in heart failure. So I am thankful that we happened to be in the right place at the right time.

11. Maddy’s TAPVR went undetected for two weeks after birth.

12. My son had critical aortic stenosis that was not caught until a few hours after he was born. He turned blue shortly after he was born. He ended up having a heart transplant when he was 6 weeks old. He will be 7 yrs next week! I love the idea of the Pulse Ox for all new borns!

13. Alex’s HLHS wasn’t diagnosed until he was 2 months old. It’s a miracle he’s still with us. An unusually large left ventrical was the difference.  Hopefully we can work together to make sure more heart defects are detected earlier so others won’t have to worry like we did.

Here’s my attempt to summarize the events from the Secretary’s Advisory Committee on Heritable Disorders in Newborns & Children (ACHDNC) on Friday in Washington DC.  I hadn’t slept in 3 days, and my brain was working overtime – but I can say that the preliminary report and the comments from those in attendance were very well received.

Next up, the External Review Workgroup (ERW) will continue to gather and collate findings and begin interviewing subject matter experts/technical experts.   A final report is expected at the September 2010 meeting.  The optimist in me says they will have what they need – the evidence will be compelling and overwhelming in favor of routine newborn screening with pulse oximetry.  What COULD happen, is that the committee comes back with additional questions or concerns and a gap report will need to be given to answer those before the actual vote happens.

For anyone who has missed this before, I’ll try to clarify a few points first.

1) Assuming a vote happens and the advisory committee recommends screening for heart defects to Secretary Sebelius, she has 180 days to act on the recommendation.  In this case, that means if she follows her committee’s guidance, Health and Human Services would make a formal announcement that is it recommending universal screening with pulse oximetry. It is NOT a mandate.  The way our laws are set up right now, it can’t be.  Whenever HHS adds a screening for a genetic disease or disorder to the newborn screening panel via this process, it is an automatic mandate.  Authorized by congress, each state department of health is required to begin conducting that additional screen.  The difference with pulse oximetry – like hearing screening – is that it is NOT conducted by a department of health staffer (they are the ones who come and do the heel poke and collect the blood spots).  It is conducted by hospital nursery staff.  It’s still reported to the department of health similarly, but someone doesn’t come into the hospital from outside and conduct the screen.

So as it stands, there are two future paths:

1) After the Secretary’s recommendation, each state will need to pass language mandating pulse oximetry screening at the healthcare provider level.  This would largely be a formality after the HHS recommendation.  We saw with hearing screening that more than 50% 0f the hospitals started implementing the screening as a standard of care after the formal recommendation – but before legal mandate.  The rest started falling into line shortly after.  I’ve been told that we should expect an even greater adoption rate upon HHS recommendation than with hearing screening.

2) Language could be introduced at the federal level that would make this screening (and potentially other “physical” screenings such as the one for severe jaundice) mandatory.  Congress has the power to authorize this change.  But it will be a moot point until we have our formal recommendation through the Secretary of Health and Human Services.

Hope this makes sense…

On to the meeting…I could fill 40 pages with the names of people and organizations that are advocated for early detection of congenital heart disease…but specific to Friday, will take this opportunity to express gratitude to the following.:

Vi Kennedy – the founder of Bless Her Heart and mom to Taryn who died suddenly and unexpectedly January 2009 of an undiagnosed heart defect at one month old.  She spoke boldly and eloquently on the need for pulse ox screening.

Dr. Olivia Easley – mom to Veronica, who died unexpectedly last summer of undetected TAPVR at 7 weeks of age. Her testimony was powerful and emotional.  It was gut-wrenching…and so important for the committee to hear.

Elizabeth Bradshaw – the super-woman who heads the pulse oximetry screening program at Children’s National in Washington DC – and is growing it to hospitals around the country (and overseas).

Dr. Gerard Martin – also from Children’s National, for providing the most compelling medical commentary on this topic that the committee could ever hope to hear. Instant rockstar status.  I actually strolled right up to him after and bear-hugged him.  Poor man surely thought I was a complete weirdo…

Mona Barmash – for always being on the front lines and a resource to so many – on pulse ox and everything else associated with CHD.

Karin Coulter – founder/executive director of Saving Little Hearts.  She is passionate about newborn screening for CHD and has been an advocate and resource on the topic for a very long time.

The ACHDNC – for going through this process. The wheels can move slowly, but they are committed individuals and I have great respect for the work they do in trying to ensure newborns are screened for diseases and disorders that can easily be missed in those early days of life.

Process

So, as you recall, the nomination for universal screening for CCHD was made at the January meeting (this group meets only 3 times per year).  As the committee also voted to move this nomination to its top priority, an External Review Workgroup was assigned to immediately begin a diligent evidence review process that will allow the group to report back to the full committee prior to making its recommendation.

The interim findings were presented in a report by Dr. Alex Kemper from Duke University  - who is heading up the External Review Workgroup.  A workgroup like this is assigned after any condition has formally made it through the nomination process with the ACHDNC.  Before diving into the specifics of their work on pulse ox screening, he laid out some general parameters for the workgroups.

First they must define the condition and if the screening itself can:

Decrease mortality

Decrease morbidity

Improve quality of life

The workgroup must look closely at potential harms such as:

False positives

Difficulty establishing diagnosis

Carrier identification

Identification of an adult onset

Level of prognostic info

Lack of health services

Dr. Kemper made some suggestions about how the committee approaches the workgroup model – perhaps incorporating a technical expert panel with final approval from nominations workgroup.  He also stated that the committee should consider making the process more open and transparent, perhaps utilizing the public comment/web model and allowing stakeholders to share in the analytic framework.

Definitions

Getting back to definitions, I posted earlier about the difference between CHD and CCHD (critical congenital heart defects/disease).  For the committee’s purposes, the definition has taken another leap, now to CCCHD - Critical Congenital Cyanotic Heart Disease.

CHD covers the full spectrum of defects.  CCHD has typically been defined as congenital heart disease that required invasive intervention or resulted in death in the first 30 days of life. Significant physiologic compromise is defined by severe metabolic acidosis, seizure, cardiac arrest, or laboratory evidence of renal or hepatic injury before invasive intervention.  It is notable that both Children’s National hospital in Washington DC and the committee seem to be using definition of heart disease that requires significant intervention in the first YEAR of life, not the first month.

We actually have this on our meeting agenda this week for the Minnesota pulse ox program team – to provide clarity on our data and IRB materials as well.

CCCHD, or C3HD as Dr. Kemper calls it, is identified specifically by hypoxemia in most or all cases.

By way of calculation, approximately 25% of all CHD cases are actually CCHD cases, and most of those are associated with hypoxemia, which would make them CCCHD.

For this initial report, Dr. Kemper’s team has defined the following defects as the ones are most detectible by pulse ox screening.  Note: these align almost exactly with the findings from Dr. Julien Hoffman’s recent paper advocating for routine neonatal pulse oximetry screening (with permission, will be posting this paper).

Coarctation of the aorta – COA

Tetralogy of Fallot – TOF

Transposition of the Greater Arteries – TGA

Tricuspid atresia

Total anomalous pulmonary venous connection – TAPVC

Trunctus arteriosus – TA

Interrupted aortic arch

HLHS

The three experts thus far defined by the ERW as technical experts include:

Robert Beekman MD, Kaplan Professor of Pediatric Cardiology; and co-director of the Heart Center at Cincinnati Children’s Hospital Medical Center.

Robert Koppel, MD, Neonatology, Steven and Alexandra Cohen Children’s Medical Center/Associate Professor of Clinical Pediatrics at the Albert Einstein College of Medicine.

William Mahle, MD, Medical director of clinical research at Sibley Heart Center Cardiology in Atlanta; Associate professor of pediatrics at Emory University School of Medicine.

Methods for Evidence Review

The team will continue to review new literature and data as it becomes available between now and its final report and phase 2 will include consultation with Investigators and advocates (establishing and vetting this list).

Dr. Kemper’s group reviewed 11 articles that met their abstraction criteria for the preliminary report.  Moving ahead, the team will be looking at a couple of fluid areas:

1) literature confirming incidence of CCHD – some studies show 1 per 10,000, others who 25 per 10,000 births.  All but two of the studies examined in the preliminary findings reported a specificity of greater than 99%.  Sensitivity of pulse ox screening was variable – from 45-100%.  They are not sure about the reason for this either, but it is less vital that the specificity rating.

2) How much does pulse ox screening increase the number of cases identified in newborn nursery?

3) Natural history – including spectrum of severity of CCCHD not identified prenatally.

4) Does pre-symptomatic or early symptomatic intervention in newborn with CCHD improve outcomes?

5) Economics surrounding diagnosis and treatment of CCHD/

We already know the committee is very interested in having the ERW address potential harms and the availability of diagnostic and treatment services in its final report, including telemedicine and health IT components.

Comments from Committee Members

Comments from the committee were interesting…

One committee member noted that the test for this condition represents something “new” for them.  They have had representatives around the table for blood spots (i.e. public health participants), but not for how HOSPITALS are directly impacted by a screening like this.  It was recommended that they need to include the healthcare workers in newborn nurseries.

We agree.

Just to show there is certainly still a learning curve on this particular screening: there was a question as to whether pulse ox screening would be part of a routine health department follow up for patients/families.

The obvious answer is no.  There are many parallels to hearing screening in that pulse ox is a “physical” screening conducted by hospital staff (and not department of health staff as with the blood spot screens) – and that the reporting of the data along with other screening results can be similar.  The pulse ox screening is unlike hearing screening in that the results are immediate – and immediately reportable.  In other words, a baby would never go home from the hospital and find out their pulse oximetry results AFTER discharge.

Another committee member asked how good in pulse ox in identifying non-blue babies? Basically he wants to know how many are picked up clinically – to compare and contrast clinical exam detection and prenatal detection with pulse ox detection.  He added that the treatment of these isn’t in question, but that not all babies need to be acted on within hours.

While this is true, babies often DO need to be acted on within hours.  That is the whole point.  Not to mention that there are still many babies MISSED even at pediatric well visits.  Some hospitals look further into murmurs, but most don’t.   Parents are usually given the “innocent murmur” speech – and told they will follow up at the well visits. And there are alot of babies MISSED even at pediatric well visits.   Dr. Fleischman’s points are vital and accurate – but rural kids will be more likely to be identified…not less.

There were some concerns about the integrity of the subject matter expert interviews.  Dr. Perrin (who heads the ERW process and assigns the team) stated that they are very careful to only ask for data, not opinions.

It’s hard to have someone that is an expert in anything that does not have a bias based on that expertise.  I would suggest that there is great value in opinions. These physicians are on the front lines of treating pediatrics heart patients – their opinions matter.  If decisions about how to treat these babies were based strictly on data….I shudder to think of what the outcomes would be.

Next up was the public comment period.  I would have loved to have transcribed what Olivia and Vi presented to the committee here – but I was simply too emotional to take notes through it.  Their stories made my heart ache and my eyes swell.  I can only say that I’m grateful beyond words for their willingness to dig deep through their pain to ensure others will not have to endure it.

Annamarie Saarinen (Eve’s mom, 1in100) comments to the committee:

“I was here 4 months ago – in January when screening for CCHD was nominated. Since then more than 3,500 babies have been born in this country with congenital heart defects.  As many as 1200 of them went home from the hospital without anyone knowing they had a heart defect.  Based on Dr. Kemper’s report, about 875 of the 3500 had CCHD.  They needed – and deserved – early diagnosis and early treatment.

In January you all decided screening newborns for critical congenital heart disease was important enough to nominate for further review.  I’m not sure you hear this enough – but the work being done in this room, by this committee, is saving lives.  There are many good people working across the country to ensure the right clinical information is there to back this up as a standard of care.  I believe in this process.  I respect the difficult and methodical work being done.  And I’m convinced the evidence will speak clearly.  In the meantime, thank you again for your efforts – and for allowing us to participate.”

Dr. Gerard Martin, Children’s National, Washington DC comments:

In a nutshell, Dr. Martin stated that he was late to the game.  He finally went through the literature, much like the ERW is.  It needs to be understood that this the most common birth defect.  That Olivia and Vi’s babies are not isolated incidents.  This happens all ths time.  He actually mentioned that he had reached to Mona Barmash asking about screening.  She told him, the same thing I did…not a week goes by that we don’t hear from families who brought their babies home undiagnosed.  The outcomes vary greatly – from compromised clinical status, to heart failure to death.

Dr. Martin stated that the fetal echo (ultrasound) detection rate is 30% at best. Physical exam catch CHD 50% of the time. Basically, it’s a coin toss.  Pulse ox does have misses…but far more catches.  Without early diagnosis, the babies missed come back in shock, their outcomes uncertain.

Washington National has screened 7,000 babies in the past year.  They had 3 false positives.   For defects such as COA, the specificity has been well over 90%.  With good equipment at 24+ hours screening, it is at 99%.  If a screens below 95%, but does not have a heart anomaly, we need to KNOW IT ANYWAY.

Things such as pneumonia, sepsis, neonatal lung disease, PKEM, all lead to low oxygen saturation.  And they all need to be identified and treated.

He went on to say that hospital impact is important – implementation is key.  They are implemented at 11 area hospitals now, some as far as 100 miles away.  They are also implementing at 2 hospitals in the Middle East.

In this first year of Eve’s life, we have come to this epiphany.  In our daughter’s cardiologist, we found medical nirvana.  He has been smart, savvy, pigheaded (as needed), caring, proactive, collaborative.  Many days, we would see this man at 7 am – and again at 7 pm.  If we emailed or called or paged at 11 pm, we’d still get an immediate response.

Most importantly, it seemed like he treated our baby as he would treat his own child.  I never asked if that’s how HE really felt (that would be weird…), but it’s how he made US feel.

That is a very special gift.  Not every pediatric physician possesses it.  That’s why it’s so special to see glimpses of that pervasive caring as people name their 1in100 Rockstars http://1in100.org/rockstars/.

I will say this.  When it was time to schedule surgery, Eve’s heart only had a few weeks left.  The team at our hospital was outstanding.  And that’s why we were able to bring Eve to another hospital 2,000 miles away.  Because in their caring, compassionate, collaborative way – they knew Eve’s case was unique.  And that she was in the best hands with one of their peers.

Accolades aren’t enough.  That takes not only special doctors, but a special hospital.  Just this week, I wrote a letter to the University of Minnesota Amplatz Children’s Hospital.  We never formally acknowledged the amazing, selfless decisions that allowed our baby to live and thrive.  I hope they know how important this is.  That they are the model for how hospitals can, should and WILL be practicing in years to come. I might add that the doctors we’ve come to know during this journey are still committed allies.  Now joining together to tackle such challenges as universal pulse oximetry screening, pediatric heart device development and real-time clinical information exchange for the youngest patients.

When it comes to saving and protecting lives, there should be no hospital borders, no state borders, no country borders.  The medical community is just that – a community.  Neighbors, keep helping each other.  That’s what makes a Rockstar.

We knew our baby’s heart would be stopped while the surgical team at Children’s Hospital Boston repaired it.  It’s a damn freaky thing.  If your heart isn’t beating, you are…well, dead.  Right?

It occurred to me that we – the families of pediatric heart patients – are rather unique in having experienced this with our kids.  There are certainly alot of horrible diseases and disorders that plague kids, but how many others require the heart to stop beating to get better?

The National Library of Medicine has a rather clinical explanation of what bypass heart surgeries entail, the risks, the preparation and the aftermath.  Sorta glad I didn’t see that page one year ago today as they carried my baby into the OR.

http://www.nlm.nih.gov/medlineplus/ency/article/007363.htm

More than 50% of all children born with congenital heart defect will require at least one invasive surgery in their lifetime.

That means a whole lot of people, with increasingly successful heart surgeries will get to celebrate rebirthdays.  Eve’s surgeon, Dr. del Nido introduced us to this phrase.  In essence, when her heart started beating again at 12:40 on April 13, 2009 – she was re-born.

So at the Saarinen house, we get to celebrate December 12 AND April 13 every year. In fairness, we are letting our other kids celebrate two special days each year as well.

I’ve decided my second celebration day is April 23.  It’s the day we got to bring Eve home.  It’s also the day I found out we were pregnant with her.

Both seem like excellent reasons to party.

As if we didn’t have enough to give thanks for, we learned this week that a local medical device company completed a prototype of what we hope will be the first FDA-approved pediatric heart valve brought to market in the US.  That happened within 8 short months of the first conversations about it last summer.

And the newborn screening pilot program in Minnesota has had a ripple effect in other communities and states as hospitals have started implementing pulse oximetry screening even in advance of the official recommendation for universal screening that we intend to see from Health and Human Services before the end of this year.

Somehow Eve has rallied an amazing roster of medical professionals and public policy leaders around common sense initiatives that help families coping with the world’s most common birth defect, affecting 1in100 newborns. CHDs are responsible for one third of all birth defect-related deaths. And 20 percent of CHD children who make it through birth will not survive past their first birthday.  Those are mind-boggling statistics.  There are good people adding to their plates every day to change these numbers.

This isn’t easy stuff.  And we never thought we’d be living it.  But for now, all I can hope for is that every rebirthday Eve celebrates brings with it a sense of repurpose, recommitment, and renewal.  We’re in.

For those following the pulse oximetry newborn screening bill in Nebraska, information is in the article below.  I spoke to Senator’s office last week to see where are at.  In a nutshell.  First, let me say I believe this legislation was introduced in Nebraska with all the best intentions.  I commend the Klein family for doing all they can to help protect other families from missed and delayed diagnosis of CHD.

Next, the bill is stuck in committee and will likely stay there.  Officials intend to hold hearings and do study on the subject over the summer and potentially reintroduce in 2011.

Senator Rogert’s office was NOT aware of the newborn screening protocol making its way through the national committee.  They were thrilled to hear that if/when HHS makes a formal recommendation for screening with pulse oximetry, it will be easy work for states to pass “supportive” language that ensures each state’s hospitals are implementing screening (this is exactly how things worked when universal hearing screening took effect).

http://www.midwestmessenger.com/articles/2010/03/13/burt_county/news/news04.txt

I’m attaching a PDF explaining how this all went down with hearing screening – for those interested.  Basically, history shows you achieve a rather prompt 50% hospital adoption rate as soon as Health and Human Services makes its recommendation that all babies be screened for something (in our case CCHD).   Things are a little different when conditions are added to the genetic screening panel.  By law, these recommendations from HHS are automatic “mandates”…which means no additional laws need to be passed at the state level.  Here in lies the difference.  Newborn screening is conducted by Department of Health labs and their workers.  It  is already within the government’s role.  Physical screenings, such as hearing screening – and soon, screening with pulse oximetry – are conducted by the HOSPITALS themselves, and hospital staff (in our case, labor & delivery nurses).  This requires state mandate to “officially” authorize.

Again, the reason the process works is that having been vetted by the committee and peers in medicine, hospitals and practitioners are already on board to adopt a recommendation once it’s been handed through HHS.  The state legislation helps hospitals get over the transitional hump of adoption though.  Basically, you can’t lag behind in implementation – and often the state laws provide appropriate, supportive tools to hospitals to aid them in deploying  a new screening.

Don’t forget, screening with pulse oximetry is only the SECOND physical screening to be suggested for universal adoption.   It actually took much longer for hearing screening.  We are in a good place.  Screening for severe jaundice is most likely the next one up for consideration.

I share this as a way of encouraging all of us to stay consistent with our mission and messaging to hospitals, physicians, policy officials and the general public. We know how many babies are affected by congenital heart defects and heart disease.  Today, the tide has turned in favor of identifying them sooner – improving outcomes and saving lives.  It’s actually an amazing thing.

Before we had Eve, I thought I knew about giving.   Paul and I have been fortunate enough to be involved with a number of wonderful people and organizations over the years.   We’ve been inspired to give more through Smile Network International (smilenetwork.org), Children’s HeartLink (childrensheartlink.org), Adopt A Room (adoptaroom.org), Artspace (artspace.org) and others.

But in my 4+ decades on this planet I have never seen giving like that in the CHD world.   We are closer to many people we have come to know through this journey than friends we’ve known our whole lives.  Many of them we have never met in person.  Yet the bond is just as strong.  Stronger maybe.  Because we are tied together through the gifts of our children and the experiences most of us never imagined we would have.

Last Easter, Paul and I had just flown Eve to Boston for her ablation and open heart surgery.   She had about one week left to live.  It was a time of uncertainty and prayer.  Virtual strangers (who we met through another virtual stranger, online a couple months earlier) offered to pick us up at the airport and take us to Children’s Boston to get settled.   Four days later, the day before Eve’s OHS, that same couple drove back to into the city, picked us up and brought us back to their home to spend Easter Sunday with them.

I find it difficult to even write this without crying.  Ron and Isabelle Ouimette and their little Andre not only gave us hope that Eve could come through her operation and start thriving – but they GAVE.  In every way that matters.  They opened their hearts and their homes to us.  They made us feel “normal” that day, so far away from our other children, friends and families.  They came to visit again twice before we left Boston – as did the “other” strangers Kelli Carlson and her family. (P.S. Kelli too is an amazing advocate, mom to Will and founder of Rhode Island’s Helping Hands, Healing Hearts, www.riheartgroup.com.)

We will never forget the gift they gave us that day.  And I cannot imagine a day when we won’t think of them as friends.  Thank God Isabelle is as passionate as they come in spreading CHD awarness (CHDspeaks.blogspot.com) – it’s easy to keep in touch with her and continue to be inspired.

It’s funny – Easter means alot of things to alot of people.  For us it has become the day before Eve’s life-saving heart surgery.   I don’t have any fancy baskets or dyed eggs around the house this year.  Part of that is just how crazy the last couple weeks have been.  But it’s also because I want tomorrow to be about THE day.  Exactly one year ago we prepared Eve’s 5 medications before bed and got ready for 12 hours of NPO so a team of doctors could open her chest and fix her heart.

Today, we are grateful.  For the true significance of Easter.  And for the other things that make us smile – Sunday dresses, family, friends, cakes, cookies, stuffed bunnies…all the simple stuff that the Ouimette’s went out of their way to remind us of last year.  Thank you CHD friends everywhere.  You give so much more than you know.

Hopefully Nike won’t mind if we borrow their tag line for a bit.

So many of us want to do something, anything, to move things along with newborn screening for heart defects.  There is a whole lot of really amazing work being done – by individuals, organizations, policy officials, and medical professionals.  But what about grassroots stuff.  That’s really where we make a difference.  For what it’s worth, I wanted to share some information that has been helpful to me along this advocacy journey – along with a template letter folks can use to email or write their own hospital or health system on pulse ox screening for heart defects.

You may see this in a few other spots, as my good heart friends and advocates have offered to post it around for maximum deployment (not assuming the role of General on this project, I’ve just been having fun using military terminology lately!)  To be honest, this feels like bit like a military campaign to me.  It will take that level of coordination and precision to execute. Make no mistake, we are on the winning side of this one.  Not a doubt in my mind.

So with this, I try to explain a few things…and as always don’t hesitate to reach out directly with advice, insights or questions:

1. The nomination for screening for critical congenital heart defects using pulse oximetry has cleared its first national hurdle with the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC).  This is a committee under Health and Human Services that reports directly to Secretary Sebelius.  At the January 2010 meeting, screening for heart defects was on the agenda (for the first time ever), and  favorable subcommittee report on pulse oximetry was presented by Dr. Piero Rinaldo from the Mayo Clinic, who is a voting member of the committee as well as a MN Advisory Committee member and counsel on our Minnesota screening pilot.  I also provided testimony.  The committee voted unanimously to accept the nomination of screening for critical congenital heart disease, using pulse oximetry, to be considered for recommendation to the Secretary (and also  bumped it up to their #1 priority moving forward).   As a next step, the ACHDNC External Review Workgroup will present its evidence/findings and upon another committee vote, Secretary Sebelius would receive the recommendation.  She is required by law to respond within 180 days – at which time universal screening would be added to the national newborn screening panel.

2. You’ll see the use of the term Critical Congenital Heart Defects (CCHD) above – and in the outreach letter below.  Most folks aren’t really familiar with this term (I know I wasn’t until a few months ago).  Here’s the deal – in terms of numbers: if of 1 million babies born, 10,000 will have CHD (1%), 1/3 of those will have CCHD, and it is anticipated that at least 1/5 of those will go home from the  hospital undiagnosed (but as many as 1/3 in some figures).

By definition, CCHD are defects/lesions that are ductal dependent or may surgical or invasive intervention or result in death in the first 30 days of life.

It’s also interesting to note which “types” of defects are most often missed during routine exam alone.  This isn’t to suggest that other defects (like Eve’s) do not also go undiagnosed, but here is the list, in order of prevalence in missed diagnosis: 1. Coarctation of the Aorta (COA) 2. Interrupted aortic arch 3. Aortic stenosis 4. Hypoplastic Left Heart Syndrome (HLHS) 5. d-TGA 6. Truncus arteriosus 7. Tetralogy of Fallot (TOF) 8. TAPVC.

3. The External Review Workgroup is tasked with a very thorough review of existing and emerging information as it relates to screening with pulse oximetry.  Their work must ultimately answer 6 key questions, which I will attempt to state less technically – and answer from the perspective of the medical team I’ve been working with on this so far:

Is there direct evidence that screening for the condition at birth leads to improved outcomes for the infant or child?

Yes, absolutely.

What is the incidence and prevalence of the condition? What is the spectrum of the condition, including impact of early recognition and treatment vs later recognition and delayed or no treatment?

At 1 in 100 (or 1 in 125, depending on who you ask), the incidence of CHD is 10-fold that of the next nearest condition prevalence that is on the screening panel.  For instance, approximately 1 in 1,000 babies are born with congenital hearing loss (the only other physical screening currently on the panel) and 1 in 10,000 babies are born with PKU, one of the 30 or so genetic disorders currently screened for with a newborn blood sample.

There are nearly 40 different types of congenital heart defects – and many slight variants within each of those.

There is no question that early recognition of CHD impacts outcomes significantly.  Undiagnosed babies can suffer from significant medical complications, developmental delay, learning disabilities, and/or physical disabilities related to brain injury.  These babies spend far greater amounts of time in the hospital and require more invasive procedures to address their condition.  In the worst cases, these babies die for lack of early intervention.

Is there a screening test or algorithm for the condition with sufficient technical accuracy?

Yes.  Screening with pulse oximetry on the right foot or a combination of the right foot and an upper extremity at 24+ hours after birth has shown false positive rates of less than 1/3 of one percent (.034).

Has the clinical validity of the screening test, in combination with the diagnostic test, been determined and is it adequate?

Yes. After a second pulse ox reading below 95% saturation, babies are referred for further cardiology study and an echocardiogram to effectively diagnose the type and severity of the defect (or other potentially serious lung or respiratory issue).

The only sticky issue here is for outlying hospitals…basically deliveries not near major medical centers.  The pulse ox test isn’t the problem, it is having personnel on hand to conduct an effective pediatric echocardiogram.  This is NOT something every hospital has.  So the concern becomes, what happens to the baby with low oxygen saturation that can’t get the required diagnostic test to determine how serious the issue is.  The answers are emerging, but not complete.  Our Minnesota study is playing through on a training implementation that would ensure echo technician have the training needed to conduct a “mini-echo” that would give a pediatric cardiologist in the nearest major medical center (via telemedicine) enough info to accurately diagnose the baby – and determine if he/she needs immediate transport, or can be treated safely where they are at.

What are the benefits associated with use of the screening, diagnostic tests and treatments?

Obvious.  Early diagnosis with the help of screening leads to earlier intervention and higher success rates.   I could go on for days on this…but ’nuff said.

How cost effective is the screening, diagnosis and treatment for this disorder compared with usual clinical case detection and treatment?

A recent study shows a seven-fold reduction in missed diagnosis of critical congenital heart defects using pulse oximetry as a supplemental screening tool VERSUS routine clinical exam alone.

4. In terms of answering the questions above, the review workgroup will be looking at existing data and emerging information.  It is obvious that the more health care facilities that are screening, the more information can be funneled in to the experts.  That said, we want any hospital that is interested in starting pulse ox screening to utilize a tested and acceptable algorithm…in other words, we don’t want them screening babies a 4 hours old.  They will get a disproportionately high level of false positives (babies still have transitional circulation that soon after birth).  Obviously, unnecessarily high false positive test rates don’t help this effort.  I am happy to connect any health care professional expressing interest with the medical team here to share the endorsed algorithm and protocol being used – and recommended for the national committee.

Until everyone in nurseries everywhere can confidently detect CHD, pulse ox is needed. It demands, care, consistency and expertise – as well as the best equipment.  But that’s no different than the requirements for any test.  RIGHT NOW, pulse oximetry is capable of detecting other undiagnosed CCHD with an incredibly low false positive rate – and with costs that are less than those of currently mandated screening tests.

So until the public policy world – and some of our friends at the health care community catch up, the advocates among us will do what we can to help hospitals get a jump start on saving and improving lives.  I recommend sending it directly to someone you may know first (your pediatric cardiologist, nurse or surgeon).  If you know someone in administration, that is fantastic too.  Otherwise, I would shoot for the chief of pediatric cardiology or the chief of pediatrics.  Either of those titles should hit the mark.

Here’s a link that will show you the website and address of every hospital in the US, by state: http://hospitalandmedicalcentercompare.com/by-state

Click here for the Word document file.

And here’s content of the letter.  With an optimistic heart….just do it. 
Physician/Administrator

Hospital/Health System

ADDRESS

DATE

Hello,

I am writing as the parent/friend/family member of a baby born with a congenital heart defect – the world’s most common birth defect.  Nearly 40,000 babies will be born this year with a CHD in the US alone.  For now, most are identified with visual cues, a stethoscope, an x-ray, EKG or echocardiogram.  Sadly, anywhere between 25-40% of CHD’s go undiagnosed before or at birth – and those babies are sent home without intervention.  Many “common” murmurs are left to re-evaluation at the baby’s one-week well visit. In a short period of time, these undiagnosed babies can suffer from significant medical complications, developmental delay, learning disabilities, and/or physical disabilities related to brain injury.  In the worst cases, undiagnosed babies die.

The good news is that there is a simple, non-invasive screening tool available at every hospital in this country Pulse oximetry has been proven effective in detecting low oxygen levels in the blood – a significant marker for heart issues in newborns.  When administered at the appropriate time after birth, the test has a false positive rate of just .034%.  It is over 99% accurate.  A recent study shows a seven-fold reduction in missed diagnosis of critical congenital heart defects using pulse oximetry as a supplemental screening tool. When pediatricians or other medical professionals have this tool to use in conjunction with their traditional physical exams, they can make important decisions, at a critical time, to look more closely at a child’s heart and lungs before discharge.

Fortunately, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) – which is the national committee that reports to Health and Human Services has recently made screening for Complex Congenital Heart Defects its #1 priority.   A favorable subcommittee report on pulse oximetry was presented by a voting member of the committee and the issue is moving through the next stage of the process before Secretary Sebelius would receive the recommendation for universal screening.

There is clear consensus that CHD is a serious condition that affects a significant population (1% of babies born), that early identification leads to better outcomes, and that pulse oximetry is a suitable screening test.

Additionally, there are pilot programs currently in place that are evaluating the best ways to ensure the screening and subsequent diagnostic process is adoptable by a wide range of birthing centers, even those that lack on-site pediatric cardiology expertise.

I hope you will consider conferring with your leadership to voluntarily begin pulse ox screening for all babies before discharge.  An increasing number hospitals and health systems across the country have already begun screening for heart defects as a standard of care.  Those institutions are reporting that early identification is indeed improving outcomes and saving lives.

If you would like more information on the algorithms and protocols currently being used successfully at other hospitals, I would be happy to connect you with the team working on this at the national level.  In some circles, this has been coined as “the 5th pediatric vital sign”.  In an age of consumer choice in healthcare, we know expectant mothers gravitate to the hospitals and birthing centers that offer the largest array of clinical support in determining the health and well-being of their newborn.  I hope this will become a standard of care at your facility NOW – allowing you to have an edge even before the national mandates happen.

On behalf of the thousands of CHD babies who will not see their first birthday this year, I thank you for your consideration of this vitally important issue.

Sincerely,

XXX

One year ago tonight, our daughter Eve was lying peacefully on our bed.  It was one of those rare, but happy weeks when she was home from the hospital.  Her mitral valve leak was “moderate” when we were discharged….down from “severe” during those first few weeks.  We were just so desperate to bring our new baby home….relatively speaking, we were very, very new on our CHD journey.  I was going to start changing her, when I thought she was breathing a little heavy.  As had become our routine, we grabbed the stethoscope to check her heart rate.  No need to start the stop watch.  It took only a couple seconds to know she was in SVT – Supraventricular tachycardia. During episodes of SVT, the heart’s electrical system doesn’t work right. In her case, her heart rate would soar up to 250 beats per minute.  Most episodes of SVT are caused by faulty electrical connections in the heart.  In Eve’s case, in addition to her mitral valve defects, she had Wolff-Parkinson-White syndrome – and that was causing her chronic SVT.  We had learned in the hospital what “tricks” could be used to help pull her out of these heart-racing episodes.  Pushing her knees up to her chest, ice across her eyes and nose area.  These would usually work, although in her early hospital bouts with SVT, she was almost always given the drug adenosine which ran right into her line – a straight shot to jolt the heart back into rhythm.  We had seen SVT often enough that we were quite calm about it.  Even when we couldn’t get her heart rate to come back down, we calmly got our coats and shoes on, grabbed a bag and headed for the hospital.

It was about 10 minutes into that 20 minute drive that I began praying like I have never prayed before.  Even though it was dark in the van, I could tell her skin had changed color.  She stopped moving.  I couldn’t feel her breathing in her carseat.  I started to panic….telling Paul to drive faster.  I unbuckled her and held her in my arms – in a car going 80 mph down the frozen highway in Minnesota.  If something horrible was happening, I was going to be HOLDING her, not WATCHING her strapped in a carseat.  I prayed.  Hard.  Just let her be OK.  PLEASE…I will do anything.  I’ll go with you.  Just don’t take Eve.  Then I stopped talking to God and started talking to her.  Quietly, whispering that mommy was there and everything was going to be OK.  I said “I’m sorry”….over and over.

Once we got to the ER, the docs started working on her.  They tried the ice.  No.  Then they tried putting her whole head into a big tub filled with water and ice.  No.  Then again.  Still 250 bpm.  Then they started trying to get a line in her to do the adenosine.   She was always, always horrible to get a line in.  Tiny veins…most of which had been annihilated by all the IVs and PIC lines during her ICU stays.  They handed her to me with a towel, she was freezing cold and limp…and I started whispering again.  This time: “Mommy’s still here.  It’s not your time to leave.  Slow your heart down and come back home with us.”   I can picture all of this like it happened yesterday.  After about 30 seconds, like magic, we watched the heart rate monitor pop back down to 130.

We actually ended up going home that morning.  She started to get her color and vitality back – and docs didn’t think we needed to stay since we were scheduled for our cardiology appointment 2 days later.

Grateful is a word that holds great meaning for our family.  But that feeling, that day, was more than grateful.  It was indebted.  We will forever owe God and the universe a debt for allowing Eve to stay here with us.  I will gladly spend the rest of my days paying that debt.

At Eve’s appointment 2 days later, she had plummeted back to a 4+ leak and was summarily admitted to the ICU for an extended hospital stay.  She was in heart failure.  During the following 8 weeks, she would be home with us a total of 9 days, including the few days leading up to our flight to Boston for her ablation and open heart surgery.

Since we had to stay strong for Eve and our other children, I’m not sure Paul and I ever truly absorbed what happened that night – or really much else leading up to and through her surgeries.  It’s survival mode.  Heart families everywhere get that.

But this past weekend, when I looked at the calendar and realized it was the 1st anniversary of Eve’s christening – and approaching one year since that horrific car ride to the hospital – I had another meltdown.  I prayed that we would never experience that fear again.  Not with any of our kids.  I prayed others who know this fear may have peace in their journeys.  And I prayed that we never forget the debt we own.  With gratitude…