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.

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.

During my most recent trip to Washington DC, I got an email from Dr. Darshak Sanghavi, the head of pediatric cardiology at UMass.  He was sending a link to an article in the New York Times titled A Mother\’s Fight for Newborn Hearts, which told the story of our baby Eve and her journey.  When I first met Dr. Sanghavi, it was probably 6 months or more after her heart surgeries in Boston.  But I KNEW of Dr. Sanghavi long before that.  Just as we arrived at Children’s Boston from Minnesota, I had come across another post of his in the New York Times Screening Babies for Broken Hearts.  At the time we were focused on our daughter’s survival and little else.  But as she recovered from her ordeal, our family embarked on a journey that we hoped would improve the chances for other heart families to experience better outcomes, faster healing, and fewer tragedies.  Dr. Sanghavi’s vocal support of pulse oximetry screening as a tool to aid in the early detection of critical heart defects was among the few I had seen from the medical community.  It came around the same time as the American Heart Association and the American Academy of Pediatrics recommended against routine screening for heart defects using pulse ox.  Yet, the hint of opportunity was there.  If Eve’s doctors thought it was a good tool, then how many others did as well?  The rest is history.  20 months, 2 pilots, 5 federal advisory committee meetings, and 77 congressional and federal agency briefings later – the U.S. Department of Health and Human Services adopted the recommendation to screen all newborns for Critical Congenital Heart Disease.   There are processes in life.  And there are promises in life.  This was a convergence of both.  Thank you, Dr. Sanghavi – and every medical professional like you who is willing to team up with an advocate to advance a solid idea.

SACHDNC Meeting 9/22
Public Comments
Chairman Howell, Committee Members,

Thank you for allowing this participation today.  As of yesterday afternoon, the comments I had prepared have greatly changed.  We are overwhelmed by the Secretary’s positive response to this committee’s vote from one year ago to recommend newborn screening for critical congenital heart disease.

In support of this important screening – over the past few months, the following occurred:

• Meetings with nearly 80 ( 77 ) congressional offices
• Information briefings provided to 12 additional offices within HRSA and HHS, including the Secretary’s office
• Four formal congressional briefings by the Newborn Coalition
• Drafted and delivered dozens of letters to stakeholders, provided fact sheets, cost analytics, and shared updates on the status of the recommendation and response to the CHD community, public health and         health IT committees and leadership
• Working directly with New Jersey’s Dept of Health implementation workgroup
• Established pilot projects that support MU stage 3 care coordination and electronic reporting of pulse oximetry results

In just the year since the committee voted to recommend newborns be screened for CCHD, more than 120 additional hospitals around the country have started screening newborns for heart defects as a standard of care.  Pennsylvania has introduced legislation and New Jersey’s Governor signed their bill.  As of Aug 31, 2011, every newborn in New Jersey is being screened, using the protocol developed by the HRSA implementation working group.  All this happened in New Jersey in less than 8 weeks time…an amazing accomplishment, and a model for other states.

The number of hospitals screening grows every week, including an annual population of 15,000 babies in Minnesota.  We have also translated all our our parent educational materials into 3 languages and have a working IT project with MN Dept of Health to support electronic results reporting – one we hope to open source for every state attempting to set up similar procedures for collecting and reporting pulse oximetry data.

I hope this effort has reinforced something important – that the work here reaches beyond metabolic screening.

Today, 11,000 babies will be born in the United States.  110 will be diagnosed with some type of congenital heart problem.  11 of them will die before their first birthday.  No question – through your important efforts, that number WILL CHANGE.   Fewer lives will be lost to this insidious disease.

My dad was diagnosed with stage 4 cancer last week.  Here’s what no daughter wants to hear: we would have had more options had we known sooner.  It’s also what no parent of a baby wants to hear.  Early diagnosis of hidden diseases and disorders MATTERS.  You help make that happen.

On behalf of my family, 1in100, the CHD community and the Newborn Coalition, many thanks to this committee for the work you do and continue to do.

And thank you Chairman Howell – you have done work that will be recognized by generations.  You leave some very large shoes to fill. Wishing you all the best.

Thank you again.

Annamarie Saarinen, 1in100 / Newborn Coalition

Published in the journal Pediatrics: Endorsed by the American Academy of Pediatrics, the American Heart Association and the American College of Cardiology, a federal advisory panel recommends nationwide screening for critical congenital heart disease using pulse oximetry, a probe placed on a hand and a foot that uses a light source and sensor to measure oxygen in the blood. Low oxygen levels signal the need for further testing to look for a heart-related problem.

View the report here: Newborn Screening for Heart Defects Using Pulse Oximetry Recommended

There are few words to describe the excitement.  Thinking back to Eve’s Impact, her diagnosis and surgeries – and on to that day in the fall of 2009, when the team in Minnesota agreed to pursue a pilot project, to discussing a federal nomination with the committee member, to providing comments to the federal advisory committee and participating in this federal workgroup that yielded this report..it’s been a whirlwind.  Now, all this news coverage in the past 24 hours.  It’s clear the time has come to use all the tools available to support the early detection of heart defects in newborns.

http://www.cbsnews.com/video/watch/?id=7377689n&tag=mg;earlyshow

http://articles.latimes.com/2011/aug/21/health/la-he-heart-screening-20110822

http://www.webmd.com/parenting/baby/news/20110819/blood-oxygen-test-finds-heart-defects-in-newborns

http://www.medscape.com/viewarticle/748382

http://www.baltimoresun.com/health/boostershots/la-he-heart-screening-20110822,0,1119997.story

http://seattletimes.nwsource.com/html/health/2015978538_webheart22.html

http://www.smartplanet.com/blog/rethinking-healthcare/could-a-new-screening-help-identify-heart-problems-for-newborns/6335

http://health.usnews.com/health-news/family-health/heart/articles/2011/08/22/steps-outlined-to-screen-all-newborns-for-heart-defects

http://blogs.wsj.com/health/2011/08/22/screening-newborns-for-congenital-heart-disease/?mod=WSJBlog

In the year leading up to July 19, 1955, C. Walton Lillehei and colleagues operated upon 45 infants and children with previously uncorrectable cardiac anomalies using cross-circulation with a human donor.  Actually, my grandmother, Anna, was the third adult patient he operated on using his revolutionary bypass techniques.

In that spirit, I wanted to share this recent story from CNN online.  http://thechart.blogs.cnn.com/2011/07/22/darth-vaders-mom-we-focus-on-today/

Dr. Gupta highlights little Max, the Tetralogy of Fallot survivor who played Darth Vadar on the high profile SuperBowl ad.  His family’s advocacy stretches beyond CHD to patient access to pediatric specialty care.  It’s important to understand that not so many years ago, Max would never have survived TOF.  And the fact is that today, Max still may not have survived TOF without early diagnosis.  Made me curious about the informal survey findings shared at the January CCHD Implementation Workgroup meeting in DC.  I looked back and found that of the 68 patient families responding (all postnatal diagnosis), 12 were cases of TOF, a defect that would surely present with desaturation, if evaluated with pulse oximetry. Of those 3 babies were not diagnosed until after discharge from the nursery.

This country is waiting – today – for the U.S. Department of Health and Human Services to adopt a formal recommendation already made by its federal advisory committee to screen all newborns for Critical Congenital Heart Defects before discharge from the hospital. Max was diagnosed before birth (but just barely). Tetralogy of Fallot (TOF), Max’s condition – is one of the most prominent heart defects that can be detected with the help of pulse oximetry screening in the newborn nursery. Babies around the country being born in hospitals where these conditions are not seen very often will be helped, or saved, by early diagnosis. It’s really just a simple vital sign check – non-invasive and about the cost of a diaper change.

We continue to be hopeful that the federal guidance on this issue will come very shortly – so critical for the advocates, and the provider and public health communities who are continuing to move forward.

The statement from the federal advisory committee can be viewed here: http://www.hrsa.gov/heritabledisorderscommittee/correspondence/October15th2010letter.htm

More about the SACHDNC:
http://www.hrsa.gov/heritabledisorderscommittee/

More about the SACHDNC: Workgroup on Screening for Critical Congenital Cyanotic Heart Disease
http://altarum.cvent.com/events/ccchd-meeting/custom-22-f8929dc795694e7aa6c588c263e31554.aspx

SACHDNC letter to Secretary Sebelius Recommending Newborn Screening for CCHD

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

Statement from AAP New Jersey on Pulse Oximetry screening:

http://pulseoxadvocacy.com/wp-content/uploads/2011/07/Bill-A3744-1.pdf

http://www.cchdscreeningmap.com/

June 29, 2011

The Honorable Kathleen Sebelius
Secretary, U.S. Department of Health and Human Services
200 Independence Avenue, SW
Washington, DC 20201
RE: Recommendation for Newborn Screening for Critical Congenital Heart Disease

Secretary Sebelius,

Please accept this note of thanks again for your diligence – and that of your committees – in evaluating the recommendation of newborn screening for critical congenital heart disease.  While many do not have the capacity to lobby directly on issues such as this, I hope that is not misinterpreted as a lack of intense interest or advocacy.

If you aren’t yet aware, something in the neighborhood of 40 states now have grassroots online community pages focused on implementing routine pulse oximetry screening for newborns.  The recent movement of New Jersey, Maryland and other states toward this standard of care has started a significant state-by-state groundswell of support.  Many providers, payers and policy leaders have been hopeful that the federal guidance surrounding this important screening would happen in a timely fashion – giving states a leg up in their own implementation efforts.

As I write this, Minnesota (with a strong, aggressive pilot program) is starting to screen 15,000 babies this year.  New Jersey is poised to act on its legislative mandate – but without any clear guidance or standard protocol to assist.  We’ve shared our Minnesota protocol and educational materials, and will continue to do so with any healthcare institution, system or public health department that asks.  But the point is, there are hospitals and states eager to adopt this standard, prove its efficacy, and strip away the few remaining uncertainties that can only be answered through real-world implementation.

Right now, babies are getting discharged from hospitals every day with a hidden disease that could take their lives.  At best, the missed diagnosis of newborns with CCHD results in surgical compromise, neurological impairment, developmental delay, organ failure, and long-term feeding issues…all at huge costs to the healthcare system.

We all know pulse oximetry is considered the 5th vital sign. It’s routinely done on any adult with the slightest ailment or injury.  But somehow babies, who just ventured into this world and are breathing oxygen for the first time ever, should not have a pulse ox check before discharge?  Even if you take screening for CCHD out of the equation, this is a standard of care that is long overdue in the newborn nursery.

Physicians, hospitals and advocates clearly understand the importance of early detection of newborn diseases and disorders in saving lives and reducing healthcare cost burdens associated with late diagnosis.  It’s also a huge issue for our rural and underserved populations – who will continue to fall through the cracks if this simple point of care evaluation does not become a standard of care.  I have included a spreadsheet with just a small, but recent, survey of families impacted by CCHD (1in100_Informal Survey Responses_0111).  I am just one mother – and that fact that I personally know every family responding speaks volumes as to the need for this simple point of care screening.  In addition, I got this note just yesterday:

My baby went 4 and half weeks undiagnosed despite our complaints of poor eating, and breathing strangely! He saw 4 different pediatricians, after the two he saw in the hospital and no one    bothered with a pulse ox because I was a first time, very tired mother. He nearly died in our arms 3 days after his one-month check up! Inexcusable!!! What is the extra expense of babies like Gunner who then was so critical required a life flight and weeks of life support? Had the defect been caught initially, our entire family could have endured less trauma. Thank God we still have him and he is healthy, that is ONLY because of God’s grace. I know there are too many others who are not so lucky. ~Dana

I am confident that the work of the ICC (Interagency Coordinating Committee) will provide you an “action plan” that addresses your concerns and fills in the stated infrastructure gaps. In the 90 days allotted for this task, 1,000 additional babies will have died from Congenital Heart Disease.  The situation is grave.  The #1 cause of death in infancy in the U.S. is congenital anomalies, and the #1 cause of death from anomalies is congenital heart disease. Secretary, on behalf of my daughter Eve and 40,000 babies born each year with heart defects, I urge you to leverage your leadership and expertise in public health to advance this recommendation to the benefit of newborns throughout the United States.

With appreciation,

Annamarie Saarinen, 1in100

cc: Senator Amy Klobuchar
Congresswoman Betty McCollum

annamarie@1in100.org
Know More. Do More. Facebook.com/1in100
newborncoalition.org

http://cchdscreeningmap.com/

So happy the Journal of Neonatology picked this article up in June.  It is thorough.  It is clear.  And it’s preaching to the choir at 1in100…

Thank you Dr. Hoffman and colleagues for your research and valuable opinions on this topic.