1in100

Three years ago today we spent Christmas Day at the side of our daughter Eve’s isolette in the PICU at the University of Minnesota Amplatz Children’s Hospital.  She was 13 days old.  It was the first – and likely the only time I will see Santa cry.

People still comment on how horrible that must have been – spending Christmas in the hospital with a sick baby, away from our other children and family.  I don’t remember it that way.  I remember the exponential gratitude of being there, where Eve was being nurtured and cared for by experts. She was struggling, but she was alive.  That’s what mattered.  And it was in that spirit of hope that Christmas remains the most sacred of days for us.

Here’s my wish – today and every day:  that people recognize the blessing of having access to medical teams that can heal broken hearts.  This is reality. In 98 percent of the rest of world, we would have just been another set of grieving parents.  Eve would have never survived for 13 days.  She would have been gone.

To those sitting in those hospital rooms tonight, we wish you hope, grace and comfort.  May your babies come home soon and thrive.  To those who know others sitting in hospital rooms tonight, find it in your hearts and in your hectic schedules to GO THERE.  Be there for those enduring this journey.  We know it’s hard.  Sick babies and children are not the things Christmas dreams are made of.  In fact, it’s just downright wrong. Anytime. Anywhere.  But these families need you.  Show up.  Be present.  Give, if you can.

During that first month, 3 co-workers and less than half a dozen friends visited us there.  I understood why, but that didn’t make it any easier.  Much of the saving grace came from emails, facebook posts and blog entries.  In this community of congenital heart defects, virtual strangers become virtual lifetime friends.  We find out how many 1in100′s there are. Perhaps that is the gift of adversity.  And it is an amazing thing to behold.

Eve Isley Saarinen was born the evening of Friday, December 12th  – 6 lbs, 9 oz, 20 inches… lots of beautiful dark hair.

At 2 days old, Eve was diagnosed with congenital heart disease. It’s a broad category.  Her biggest problem is a severely leaky mitral valve, which puts strain on the whole heart function, enlarging the heart and putting pressure and excess fluid on the respiratory system.  She was transported by Lifelink to the University of Minnesota NICU on the 14th.  Paul drove through the blizzard that night to be at her side, but since I had a c-section I could not be discharged until the next day.  Took a cab over there on the 15th and we hunkered down for the next 5 days.  The medications seemed to be working at first, but within a couple days her heart was continuing to get larger, her breathing more labored.  After an episode of SVT – which is basically super-fast heart arrhythmia, she was immediately transported to the U of M Children’s Hospital pediatric intensive care unit – closer to the full time cardiology staff and cardiac surgeon.

She was started on a new, stronger drug to alleviate some of the pressure and workload on her heart.  We were warned that her situation was precarious.  The surgeon and team spoke to us of a possible transplant (her heart had already been greatly damaged by her defect and the tachycardia).  Yet with all this, she has started to turn a corner and improve.

It is slow progress – and it’s hard to be patient.   We don’t know how long we’ll be here as the medicines do their work…though they seem to be stabilizing her.  We’ve told our parents to come now…want them to know her if God takes her from us now.  Just writing this is almost unbearable.  For now, we are only positive around her…so we cling to a tentative plan to get her bigger and stronger for a heart surgery at about 3 months old.

There are very sick children all around us here.  It’s the holiday season and there shouldn’t be any sick children.  Anywhere.  So we pray for all these babies and continue to be grateful for how well Eve has been doing.

Blessings to all of you in the new year – cherish your new arrivals.  They are the greatest gifts.  We’ll do our best to keep you posted (Paul’s Eve blog updates can be found at:  www.tweetandmeet.com)

Annamarie, Paul, Jack, Elle and baby Eve

The Department of Health and Human Services just held a stakeholder call to update on the status of the recommendation to screening newborns for CCHD with pulse oximetry. Given the 5 recommendations related to this screening, the Secretary has found several items she would like to have further clarification on to move forward with the screening (see the original recommendation letter here). 

It was clearly stated that the Secretary recognizes the critical importance of CCHD, and has requested further efforts be undertaken immediately to work through the issues surrounding the pulse ox technology itself, follow up diagnostics, service infrastructure, and education. The Newborn Screening Saves Lives Act (of 2007) required the formation of a supplemental Interagency Coordinating Committee on Newborn and Child Screening issues. This committee includes directors of the CDD, HRSA, NIH and AHRQ. The committee has been IMMEDIATELY tasked with reviewing the original SACHDNC five recommendations, any gap areas, and the document produced from the Implementation Workgroup – their goal is to close the gaps. It is the committee’s first order of business…and they have 90 DAYS to provide a plan of action.

Here’s what I know. Without the outreach all of you did, sharing your support and personal stories, this important secondary advisory committee step wouldn’t be happening. This was going down the road of being an averted recommendation. Now it’s not.

So while we might not have the green light quite yet, the motor is running and the car is in gear. Please accept my profound gratitude for all you continue to do to support early diagnosis of heart defects.

I can be honest here, with all of you. These last 10 days have been hard. a hundred hours of time, anxiety, nausea, all of it. My first reaction to the 90 day delay was this: in 90 days, 1,000 more babies will die – and realistically, 200-300 of them will be contributed to by late diagnosis.

But I also realize there is solid intent on the part of the federal stakeholders to get this right. In that spirit,  let’s support this effort, continue the work already being done, and look forward to widespread implementation of newborn screening for CCHD.   #1in100

Let there be no mistake.  Early detection of heart disease in newborns is essential.  I mentioned to someone yesterday that sometimes families feel like it falls on our shoulders to advocate.  These letters sent to HHS Secretary Sebelius this week show we’re all in it together.  Inspiring to see physicians, patient safety advocates and hospitals weighing in on this important issue.  Profoundly grateful.  Share these with your own hospitals and docs – they might want to add their voices too.

Letters in support of Newborn Screening for CCHD to the Department of Health and Human Services

Children’s National Medical Center, Washington DC

Darshak Sanghavi, M.D., UMass Memorial and University of Massachusetts Medical School Letter

Patient Safety Advocates Letter

Letter shared by Val Guerin…who sends a CHD awareness letter out each year to family and friends.  This was the highlight of our week…and there is absolutely no way we could have said any of this better.  Thank you Val, for all you do.  And to little Cora for being the HLHS fighter she is!  You are 1in100.
While preparations are being made to celebrate hearts for Valentine’s Day, families affected by congenital heart defects recognize February 7th to the 14th as Congenital Heart Defect Awareness Week. The intent of this letter is to promote awareness and understanding through education, resource provision, and to suggest ways you can help. It is also to celebrate the efforts of children and adults who live with congenital heart defects (CHDs) and to commemorate heart Angels who are no longer with us but who continue to inspire through their bravery in life. The hyperlinks in this letter are references as well as resource sites that may be valuable to other families.

Congenital heart defects occur even with excellent pre-natal care. Pre-natal scanning has enabled families to prepare for surgery before birth (Children’s Hospital of Philadelphia). Surgeries have even been conducted in utero (Children’s Hospital Boston). There are 35 known defects, and approximately 40,000 babies with CHDs are born each year in the US (Little Hearts, Inc.).

While CHDs are the most common birth defect, there is a lack of government funding  (Children’s Heart Foundation) and care centers for the increasing number of adults (Adult Congenital Heart Association).

The State of Connecticut has granted a proclamation to recognize Congenital Heart Defect Awareness Week, but this remains a temporary measure. A federally recognized week would increase the amount of funding for research and support for families. The Congenital Heart Information Network provides information on how you can contact local government representatives.

Another important facet of awareness is the implementation of routine pulse oximetry screeing for newborns to prevent loss of life due to undiagnosed heart defects. Little Hearts, Inc. published a member survey that found only 2 out of 100 babies were screened at birth for congenital heart defects. History was made this year as the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children made a recommendation to the Department of Health and Human Services for pulse oximetry screening to be part of every newborn screening. A Heart Mom and advocate who has been tirelessly working toward this goal details the progress at 1in100.org.

Children with CHDs may not present with outward symptoms. Many children have great endurance and participate in a multitude of sports. Alternatively, the older child in a stroller is not lazy, but may have weak stamina. The child sitting on the sidelines of a group activity may not be shy, but physically unable to participate. The baby diagnosed “failure to thrive” and the very thin child may not be results of physical neglect.

Many children with CHDs have endured at least one surgery in their lifetime and countless procedures ranging from clinical checkups such as electrocardiograms and echocardiograms to heart catheterizations, further surgery, and possible heart transplantation. If you would like to directly help inpatient children, Saving Little Hearts provides care packages and accepts sponsorship donations. TCHIN assists families with expenses during long hospital stays or visits far from home. Heart Support of America also provides grant funding to families.

Thank you for taking the time to read this letter. There are several support groups listed which offer various types of assistance but all work toward improving life for children and adults with congenital heart defects. If you use your writing skills to contact local legislators, your time to read about CHDs, forward this to a newly diagnosed family, or donate financially, you are an important part of the care for hearts that I believe is a true emphasis of Valentine’s Day.

In recognition of National Birth Defects Prevention Month, CDC has been posting  articles on its home page throughout the month related to birth defects. The first feature was highlighting congenital heart defects – check out the CDC homepage: http://www.cdc.gov/Features/HeartDefects/.  Another note, the CDC is playing an important role in the development of implementation guidelines for routine pulse oximetry screening of newborns to detect Critical Congenital Heart Disease.  Their role in monitoring screening results and outcomes will be pivotal in finding CHD patterns that may be linked to geography or other environmental factors…in other words – research and monitoring come together to target the problems and find solutions to hammer away at CHD.  Good news for the 1in100 touched by this destructive disease.

Congenital Heart Defects
January is National Birth Defects Prevention Month. Congenital heart defects, one of the most common types of birth defects, affect nearly 1% of all infants born in the US. Learn more.

Understanding Congenital Heart Defects
Congenital heart defects are conditions present at birth that affect the structure and function of the heart. They are a leading cause of infant death from birth defects during the first year of life.1 In 2004, hospitalization costs for congenital heart defects among people of all ages totaled $1.4 billion.2 CDC works to identify causes and prevention opportunities for birth defects, including congenital heart defects, by applying a public health approach that incorporates three essential elements: surveillance or disease tracking, research to identify causes, and prevention research and programs.

Surveillance of Congenital Heart Defects
To track congenital heart defects, CDC has established state-based birth defects surveillance systems. Today, 31 states include congenital heart defects in their birth defects monitoring efforts. Information obtained from these systems is used to:

Understand the characteristics of affected children
Identify health disparities in the occurrence of congenital heart defects and survival of those affected
Plan for services across the life span
Help to ensure that children with congenital heart defects receive necessary medical care and services.

In addition, information from surveillance systems provides a basis for research studies designed to identify potential causes and opportunities for preventing congenital heart defects and promoting the health of affected people.

Identifying Preventable Causes
CDC coordinates the largest population-based effort in the U.S. to identify the preventable causes of birth defects: the National Birth Defects Prevention Study. Population-based studies like this one evaluate the occurrence of disease across a wide group of people, which is important to make sure that study results are applicable to the US population.

Recently, CDC’s study collaborators have reported important findings about some pregnancy exposures that increase the risk for congenital heart defects:

Obesity – women who are obese before pregnancy were shown to have an increased risk of having a pregnancy affected by a congenital heart defect;
Diabetes – women with diabetes diagnosed before pregnancy are more at risk of having a child with a number of birth defects, including congenital heart defects;
Smoking – women who smoked anytime during the month before pregnancy through the end of the first trimester were more likely to have a pregnancy affected by a congenital heart defect.

Next Steps in Preventing Congenital Heart Defects
CDC’s unique ability to study the occurrence of disease in the population holds promise for identifying risk factors for congenital heart defects that can be translated into prevention strategies. Although researchers are learning more about congenital heart defects, much work remains. For example, researchers are:

Investigating the possible effects of other common exposures, such as maternal fever, infection, and medications.
Exploring approaches to decrease the number of women with uncontrolled diabetes during pregnancy to prevent congenital heart defects as well as other major birth defects.
Evaluating long term outcomes, health care costs, and quality of life to identify opportunities that will support the health and wellness of children and adults affected by congenital heart defects.

CDC’s research on the causes of heart defects highlights the need for birth defects prevention strategies for women of childbearing age. Reducing obesity, providing better control of diabetes, and preventing tobacco exposure during pregnancy are all actions we can take today that hold promise for preventing congenital heart defects.

2010, you have been good to us.  Our family thrived.  We celebrated.  1in100 made a difference.  Thank you for that.

But I wish you could have been better to others.

To the 11 families who had to say goodbye to their babies – EVERY SINGLE DAY of 2010 – because of heart defects that were beyond repair.

To the thousands of lives that were shattered because burying a child in a coffin the size of a shoe box is WRONG.

To the families that fell apart because their pain was too deep to bear.

To those that languished in hospital rooms, often for months at a time.

To physicians that tried, but sometimes failed to mend broken hearts.

A good friend just sent me a note this afternoon – hoping this for 2011:  that fewer patients die; fewer clinicians endure the traumatic impact; and more patients and physicians are brought closer together through adversity and success.

2011, I don’t know you yet, but I already aspire great things for you.  May you fulfill the best wishes and brightest hopes of those you touch.

Two years ago today was Diagnosis Day (or D-Day). Eve was 48 hours old. We thought the murmur was innocent and the echo was just a precaution. An hour later, a cardiologist was standing in the doorway telling us something was wrong with our baby’s heart and they needed to transport her to a NICU at another hospital…. Our world changed on December 14, 2008.

The only thing we knew is that we didn’t know anything.  Paul drove in a blizzard to the University of Minnesota Amplatz Children’s Hospital.  I stayed behind.  My stomach had been cut open two days earlier, but I packed my bags and the clothes Eve was meant to come home from the hospital in, and set them by the door.  We didn’t call our family, but did call the people we knew in cardiology and pediatrics….friends of ours who surely would know more than we did.   Still, there was little to go on.  It was midnight before Paul could call and share what he was hearing from the team in the NICU.  But what they were saying wasn’t good.  Pulmonary hypertension of the newborn.  Don’t Google it.  Severe mitral valve regurgitation.  Enlarged heart, displaced kidneys, liver.

I tried to rest.  But the other babies were tucked in their bassinets, crying their newborn cries for the moms that were right next to them.  Where was my baby?  It took everything in me to stay put until the OB/GYN rounded in the morning.  He tripped over my bags on his way in.  “Leaving so soon?…you really should stay another day to recover.”   Yeah.  Don’t think so.  Here’s what I need: discharge papers signed, pain medication prescriptions called over the the U of M Pharmacy, and a taxi waiting downstairs in the next 15 minutes to take me to my baby.   What could he say?

The follow up to D-Day continues…to this day.  There were the darkest of days – and days of pure bliss.  And now, milestones.  Somehow the “first everythings” seem sweeter now.  We remind ourselves that every day is D-Day for 110 more babies and their families.  It would be weeks later before I knew 1in100 babies were born with this most common birth defect.  CHD requires a damn good fight.  It’s time for the victories to outnumber the defeats.

…to routine pulse ox screening for every newborn. The federal advisory committee sent this letter to Secretary Sebelius on Tuesday.  Now the Implementation Workgroup has some serious work to do.  It’s been a wild ride, but improving early detection was 1in100′s first and most important priority from day one.  This has been an amazing milestone…

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

http://www.hrsa.gov/heritabledisorderscommittee/correspondence/October15th2010letter.htm