Tag Archives: CCHD
Eve’s Journey + A Heart Ball

Eve’s Journey + A Heart Ball

On the eve of Eve’s 4th birthday, honored to be sharing comments from the American Heart Association’s Heart & Stroke Gala on December 8, 2012….with profound thanks to the AHA for their commitment to early detection, research and advocacy for the youngest congenital heart patients.  Newborn CCHD screening is the organization’s top policy priority for 2013.  These remarks followed a video presentation of Eve\’s journey produced by the AHA. The event raised more than $900,000.

I want to thank everyone here tonight for your enthusiasm and generosity…and special thanks to AHA, and the rest of our family for being there through the journey.

4 years ago this week, our lives changed forever.  Eve was our Christmas gift – perfect on the outside, but broken inside.

There are people in this room tonight that we are forever indebted to – Dr. Lazaros Kochilas, whose compassion and craft kept Eve’s heart functioning long enough to get her to life saving surgeries – done in collaboration with Dr. Pedro del Nido at Children’s Boston.  Even more impressive – the willingness of these clinicians to look at options that would help avoid delayed diagnosis of CHD in newborns…to provide greater options for treatments and intervention.  Dr Kochilas, Dr. Jamie Lohr, and several other physician leaders at U of M Amplatz, Regions, Children’s and Mayo Clinic have donated hundreds of hours to this endeavor…and every family having a baby should be grateful for their efforts.

As everyone has mentioned tonight, we’ve come so far. We know that if Eve had been born 15 years earlier – when Jack was born, she would not likely have survived.  In that short time we have made so many advancements – a testament to advances in diagnosing and treating congenital heart defects.

But even with the amazing tools that are out there, so often due to lack of funding or resources, those tools are still not available to the doctors and nurses who need them.

We will continue to work with the American Heart Association …. to invest in CHD research and programs….to advance statutes and legislative requirements for newborn heart screening here and in states across the country.  Thankfully, our state continues to lead…just yesterday I was with the Commissioner of Health, who just a few weeks ago proudly authorized statutory language that adds Newborn Screening for CCHD to the state panel.  But we still need policy help to ensure there are resources available for hospitals to do this as a population health screening and collect important data on the results for each baby tested.

Pulse Oximetry evaluation is a key first step in helping us catch critical congenital heart disease early so it can be treated.

But there is still more to do and more funding needed to develop the science to nail down the causes of CHD, and provide treatment to these kids as they grow into adulthood, advancing the specialty of Adult Congenital Heart Cardiology.

My dad and my grandmother both had rhuematic fever as children….as a young woman about my age, my grandmother became Dr. Lillehei’s 3rd surgical patient on the heart lung machine in the 1950s – which gave her another 5 years of life.  My dad had his heart valve replacements at Mayo just 6 months after Eve’s OHS.  I only wish he and my mom were here tonight….

We’ve had the privilege of volunteering with AHA, long before our lives were so profoundly touched by heart disease. I was on the steering committee for this very event more than 13 years ago, when Jack was just Eve’s age.  That year, a teenager stood on this stage post-transplant, and talked to you about the importance of early detection and the advancements in treating CHD.  That boy, now an adult with someone else’s generous heart beating in his chest was just elected to the Minnesota legislature and will be sworn in as a state rep in January.  Congratulations Nick Zerwas.  What a story.  I expect to see you often this session in the halls of the legislature – and fully expect your signature on any legislation on CHD coming your way.

Finally, please remembers, that in just the time we’ve been together tonight, more than 50 children have been born in the U.S. with a congenital heart defect (40,000 this year). 10 percent of these babies will not see their first birthday.  We need research and advocacy to keep improve those numbers…

Your support tonight makes an impact.  Thanks to Eve, our house is one where we don’t sweat the little things, and we try to keep our eye on the ball.  We’re skipping the Barbies and castles at our house this year….so please join us in giving generously tonight.  Profound thanks to each of you…   ~ Annamarie Saarinen

The good with the bad.

The good with the bad.

Studies and peer-reviewed journal pieces have become standard reading over my career.  After Eve’s CHD and the founding of 1in100, even more so.  While in most cases, these are the types of publications that warrant credibility by name alone, it’s important to note that not everything published is direct science, has perfect methodology, or frankly, is to be taken as gospel.

It’s always exciting to see another published article on newborn screening for Critical Congenital Heart Defects.  The more info out there among clinicians, the faster the adoption rate.  That’s because 99 percent of the published pieces on this topic (at least since 2010) have been in support of routine screening of newborns for heart defects.

Two more editorial and commentary pieces hit the circuit this week in The Lancet: Kemper Screening of newborn babies Lancet 2012


A new milestone in the history of CHD Lancet 2012

There are some very important points addressed in each, most of which I fully agree and support.  Some of the comments – not so much.  To suggest the importance of better prenatal detection is of critical CHD is one thing.  To add that the purpose of such is solely to give families the choice of termination is entirely another.  The example used is Hypoplastic Left Heart Syndrome, which most would argue is now being treated with a high rate of success.  (See Gil Wernovsky, MD commentary: The Paradigm Shift Toward Surgical Intervention for Neonates With Hypoplastic Left Heart Syndrome.  To be sure, there are thousands of children in this country, and around the world, now surviving and thriving with HLHS.  To disregard this important clinical progress is a discredit to those patients, to those individuals and institutions providing interventional care, and to future families faced with this diagnosis.

With many scientific paper and editorials, we have to take the good with the bad, hoping that in most cases, the good far outweighs the bad.  Onward and upward.


Amanda Rose Adams takes it to the hill. Literally. We all have a role to play in advocacy.  She can help educate us all on finding the gumption to do it.  http://www.savebabies.org/blog/2012/06/not-my-fight-now-my-fight/

Consensus – AAP, AHA, ACC Endorse Screening Newborns for Heart Defects

Consensus – AAP, AHA, ACC Endorse Screening Newborns for Heart Defects

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.












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:

More about the SACHDNC: Workgroup on Screening for Critical Congenital Cyanotic Heart Disease

SACHDNC letter to Secretary Sebelius Recommending Newborn Screening for CCHD


Statement from AAP New Jersey on Pulse Oximetry screening:



Early Detection of CCHD – Pulse Oximetry Advocacy

Early Detection of CCHD – Pulse Oximetry Advocacy

Pulse Oximetry Advocacy Temporary Toolkit:

Interactive screening map with current state legislation, legislation pending and hospitals screening for CCHD:



State Departments of Health

Newborn Screening and/or birth defect surveillance divisions

Hospital Medical Staff – contacts

Pediatric Cardiology
Newborn nurseries/Labor & Delivery

Hospital Administration

Chief Financial Officer
Medical Director
Nursing Executive Leadership
Patient Safety/Patient Care


AAP – State Chapter leadership  – AAP Chapters

Hospital Associations by State

America Heart Association (state chapter)

Pediatric Heart Organizations /Sites (some with State Chapters)

Mended Little Hearts
It’s My Heart
Lasting Imprint
Congenital Heart Information Network
Bless Her Heart
Children’s Heart Foundation
James’ Project
CHD Speaks
BabyCenter Community: Babies and Children with Heart Problems
Helping Hands, Healing Hearts
CHD Babies

Website and address of every hospital in the US, by state: http://hospitalandmedicalcentercompare.com/by-state

Draft Hospital Outreach Letter

Click here for the Word document file.Letters sent 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



On October 15, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children sent a letter to Secretary Sebelius recommending all newborns be screened for Critical Congenital Heart Disease using pulse oximetry.  The Secretary responded on April 21, 2011, by asking the newly convened Interagency Coordinating Committee (ICC) to review the recommendation and specifically address implementation and infrastructure gaps associated with state by state adoption of this screening.  The ICC has been tasked with providing a full action report within 90 days (which would be before the third week of July, 2011 or sooner).
Secretary Sebelius
The interim period is still an excellent time to weigh in with Secretary Sebelius in support of early detection of heart defects.  Advocates may use their own experience, share a screening update from their state or advocate broadly for national screening.
To reach the Secretary of Health and Human Services, call 202-690-7000.  After hours, there is VM comment line: 202-205-5445 

Or email your personalized letter/note to the Secretary at: Kathleen.Sebelius@hhs.gov

You can copy and paste your letter right into the email.  Use the subject line:  “Support Newborn Screening for CCHD”

Advocates may also weigh in with the Congressional Members in support of saving lives through screening for CCHD.

Use this link to find your delegation, with emails and phone numbers:


Sample Letters

Use the following sample letters for talking points – or customize however you’d like.  The more personal the better.

Sample letters – one for Secretary Sebelius: Family letter_HHS_NBS CCHD

and one for a Congressional member:  Family letter_Congress_NBS CCHD

Here’s the background briefing we’ve been using with policy leadership as well.

Outreach to State Elected Officials/Government

Directory of Federal, State, Local Officials and Government Agencies


The online CHD community is powerful.  Utilize the following resources to mobilize, gather and share information:

Cora’s Hopes and Dreams

Children\’s National Medical Center Pulse Ox Program

Facebook Pages:

Pulse Oximetry

Pulse Ox Please

Check Their Hearts: Support Pulse Oximetry Screening for Heart Defects

Pulse Ox Pennsylvania

Pulse Ox Mississippi

CHD Babies




Up Next: Newborn Screening for Heart Defects

Up Next: Newborn Screening for Heart Defects

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

“These are not isolated incidents”

“These are not isolated incidents”

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)



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.