1in100

There was a time – almost 3 years ago, when it would be a VERY big deal if the news media picked up on a story about how often newborns leave the hospital with undiagnosed heart defects.  Even more rare to actually mention newborn screening for heart defects (CCHD) using pulse oximetry.  Now, rarely a day goes by when it’s not in the news!  Just last week, there was a very nice piece in the News-Times (Danbury, CT) – Looking for a Baby\’s Heart Problems, about newborn heart screening. Fellow heart mom Marie Hatcher (Matthew\’s Hearts of Hope) has been an ardent advocate for screening in her state, almost single-handedly advancing legislation and working with hospitals and the department of health.  As much as we LOVE, love sharing these articles and news stories, it seems like there’s always some fact or detail that gets missed.  As a former journalist (waaay back), this is frustrating.  We know a news story only has precious seconds or a minute, and articles must be edited.  But there are a few details that we – as advocates – can’t afford to brush off.  Here’s one:

When a baby passes the screen, parents can be assured that their  baby “does not have a heart defect”.  This is very dangerous territory. Screening with pulse ox is hugely effective, but it does not catch all critical heart problems.  Research estimates it is effective in indicating about 75% of defects, those that typically show up with lower 02 readings.

This is where education is absolutely critical. In training for hospital staff. At the bedside with families. With policy makers. And with any journalist who is trying to do the service of sharing news about this important public health screening.

Here are the facts:

It is possible that the pulse ox reading is normal despite a serious CHD. Your baby should continue to have normal visits with the primary care doctor. Any unusual signs or symptoms in an infant should always be reported to a primary care doctor, including:

• Shortness of breath – this might be due to a build-up of fluid in the lungs.
• Difficulty feeding – this may occur because the baby is having trouble breathing.
• Blue lips and skin – some heart defects can lead to mixing of blue (oxygen depleted) blood from the veins and the red (oxygen rich) blood from the lungs. This may produce a bluish colour of the lips and skin, called ‘cyanosis’.
• Tires easily - sleeps more than is typical for a newborn or infant.

No current screening tool exists to detect congenital heart defects 100 percent of the time. Pulse oximetry screening should detect most heart defects (those associated with a low blood oxygen level). However, some heart detects may not be found on screening (those not associated with a low blood oxygen level). Parents are advised to review the signs and symptoms of heart defects in infants and children.

Alas, we don’t have editorial license with most of the reporters covering this new screening, but if you are in a position to be interviewed, or to provide a comment or correction, it helps everyone better understand newborn screening for CCHD.

I had an opportunity to be in Boston a few days ago – and to visit Children’s Hospital Boston.  A fellow Minnesota family is there right now with their 8 month old baby girl, recovering (beautifully) from a heart surgery at the hands of Eve’s surgeon, Dr. del Nido (their cardiologist at the University of Minnesota Amplatz Children’s Hospital is also ours, Dr. Kochilas.)  Baby Maddy’s room was two doors down from our old room – 8E, right across from the nurses station.  It all came flooding back.

It was 3 years ago this week that my husband and I flew our 3.5 month old baby from Minnesota to Boston to fix her heart.  She had just a couple weeks left to live.  I don’t remember being anxious or afraid. I remember being confident.  We were doing the right thing. She was going to come home with us and grow up to be a happy, healthy girl.  Somehow I knew this to be true.

I’ve told people many times since, that it was our mission at that time to never bring fear or pain into Eve’s ecosystem.  No matter how tired, discouraged or nervous we were along her difficult newborn journey – we were always positive and upbeat around her hospital bed.  Always.

There was always a scarf in her little isolette that smelled like mommy or daddy.  We must have recited Brown Bear, Brown Bear a thousand times.  We played the Disney Lullabies CD over and over.  And that musical seahorse.  I still wake up hearing that sometimes…

Even during pokes and painful procedures, we would just tell her how we were sorry, but that she was so very brave and strong. She needed us.  That is certain.

Sometime when we took a walk outside her room, it was all we could do to stand.  There’s no way to explain this type of sheer exhaustion unless you’ve been there.  We needed others – to lean on when we left her room.  Our hearts shine from the friendships we have gained because of Eve and her broken heart.  For every lost friend (unfortunately there were some), we have gained 10 new ones.

One of the great human tragedies of pediatric disease is the loss of friends, family, support systems. Again, no one can understand unless they have been through it. Nearly every day, I hear a heartbreaking story of how a best friend never came to visit the hospital.  How parents, brothers, sisters…and yes, even spouses, just bail. Sick infants are not the things of story books and fairy tales.  Tubes, wires, monitors, cuts, stitches, blood.  Congenital heart disease is an abomination.  No child should have it.  Period.

But until the day when children suffer disease no more, reach into your soul to BE THERE for those you know going through a traumatic health experience with their child.  BE THERE for those you barely know.  And BE THERE for those you don’t know. Suck. It. Up.

Eve is 3 now. She is the happy little girl I promised her she would become.  And someday soon, I hope we can share her amazing story with her – and teach her one of the most valuable word in the human vocabulary: compassion.

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.

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.

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.

Thank you Princeton University research team – for looking a fish genome long enough to uncover this.

Scientists find gene linked to congenital heart defect

http://www.princeton.edu/main/news/archive/S29/12/38A02/index.xml?section=topstories

http://mendedlittlehearts.wordpress.com/advocacy/