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.

I am happy to share the good news from the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) meeting last week in DC.  This committee makes national recommendations on which disorders should be universally screened for in newborns. (http://www.hrsa.gov/heritabledisorderscommittee/).

The committee voted to accept the nomination of critical congenital heart disease, using pulse oximetry, to be considered for recommendation to the Secretary.  A 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 MN pilot). As a next step, the ACHDNC has an Evidence Review subcommittee that reviews those nominations.

This was one of two nominations to be approved (the other being screening for severe jaundice). The consensus of the committee was that pulse oximetry was the higher priority of the two – and the committee voted to make screening for CCHD their #1 priority moving forward. Both nominations have been forwarded to an evidence review group, which is directed by Dr. James Perrin at Harvard.  I spoke to Dr. Sanghavi (Chief of pediatric cardiology at U Mass) about this today…he has long been a vocal advocate for pulse ox screening (http://well.blogs.nytimes.com/2009/04/09/saving-babies-with-broken-hearts/) and would be happy to share his insights with Dr. Perrin.  I am still learning how the Evidence Review committee is formulated, but it seems there is some strong support readily accessible.

The workgroup will obviously be looking at the AHA evidence review on pulse oximetry – and seeking additional information. There seemed to be a clear consensus that there is sufficient evidence that CCHD is a serious condition, that early identification leads to better outcomes, and that pulse oximetry is a suitable screening test. The most important remaining issues that need to be addressed would appear to be logistical: in particular, how can universal pulse oximetry be applied in a wide range of birthing centers, many of which lack pediatric cardiology expertise to interpret neonatal echos.

I was very specific in addressing this in my comments – stating that while every facet may not be in place from the outset, telemedicine can and will be a viable the solution to this challenge.  The president of the March of Dimes is particularly interested to see what comes out of evidence review in this regard – stating concerns that babies that test low may or may not get an echo promptly – and even if they do, it won’t be read by a qualified pediatric cardiologist in the same timely manner as in major medical centers.  This is a valid concern…and one we have brought up in our discussions.  I mention it in terms of helping proactively address it in our study (to the degree possible).

Some other folks in attendance stated that they think one of the the major hurdles in terms of a favorable recommendation of universal pulse oximetry is the lack of large-scale pilot studies needed to demonstrate feasibility and practicality on a community-wide basis.

The committee is aware of our pilot – and is very enthusiastic about receiving the latest information.

Moving forward, the recommendation would goes to the DHHS Secretary, who is required by law to respond within 120 days.  The chair, Dr. Howell stated that she has been moving much faster on previous interactions….and has generally accepted the recommendations sent her way.

The committee can and will look and domestic and international data – and there is a solid collection to put forth and the Minnesota study will help address not only some screening consistency issues, but the outstate diagnostic and treatment challenges as well.

Finally, I was very encouraged by Chairman Howell’s commitment to “not let this one sit on the shelf”.  Dr. Rinaldo did an excellent job of bringing this nomination forward and presenting the information in a way that was unanimously embraced by the committee.  It was actually quite overwhelming when the two votes actually happened.

This is historic work…thank you to all that continue to work to make this happen.  Now the pressure is really on. 

Presentation to the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children

January 21, 2010

Dr. Howell, Ladies and Gentlemen of the Committee,

Thank you for the opportunity to be here today. My name is Annamarie Saarinen. My daughter Eve was diagnosed at 2 days old with a severe mitral valve defect and enlarged heart. She was very nearly sent home – and was in complete heart failure at 5 days old.  24 hours later, she was also diagnosed with SVT and Wolf Parkinson White Syndrome.  In other words, she would never have made her one-week well-baby visit.

During those first weeks, I learned how fragile life is.  I learned that 1in100 babies are born with a heart defect – the world’s most common birth defect – and that nothing I did caused us to become that 1in100.

I also learned to rely on a small monitor that stayed wrapped around Eve’s foot.  It was a pulse oximeter – measuring the oxygenation in her blood.  The phrase “what are her sats today” became part of our vernacular.  Above 95%, we’re good.  Below, her heart wasn’t working the way it needed to.

While most textbooks identify nearly 40 different heart defects, Dr. Jack Rychik, at CHOP says there are probably more than 100 different defects.  Many congenital heart problems are very difficult to identify by fetal or neonatal ultrasound. These issues are even more relevant in hospitals outside major medical centers or in rural areas.

A recent study showed that less than 1/3 of CHDs are diagnosed prenatally.  That leaves 2/3 that are NOT.  Of these, data indicates that routine newborn exams fail to detect at least half (50%) of CHD cases.*

Murmurs often indicate a heart defect, but many serious defects do not present with a murmur immediately after birth. Even with a murmur and a careful exam, additional measures can help increase early detection of life-threatening cardiac disease.

Pulse oximetry – done at the appropriate interval between 24-48 hours after birth – can indeed detect otherwise “silent” heart defects. More than 60% of defects can result in mild desaturation (like Eve’s) not detectable with the eye, but readily detected by pulse oximetry. Simply put, pulse oximetry DOES increase detection of true CHD over exam alone. And the earlier CHD is detected and treated, the more likely a child will survive and have fewer developmental delays and long term health complications.** A baby coming back to the hospital in heart distress is PROVEN to have increased chance of death and a worse neurological outcome that those diagnosed before discharge.

False positive rates have already proven to be quite low – about 1/3 of one percent (.034).  New generation pulse oximeters may result in even greater specificity and fewer false-positives…in addition to catching any number of other respiratory and lung issues that can also go undiagnosed.

I believe the nomination process will clearly show that postnatal screening to identify CHD should be a vital part of normal newborn care.  There are many fine institutions in this country that already realize this and are screening without mandate, including Regions Hospital in Saint Paul, Mary Bridge Pediatric Heart Center in Tacoma, and Children’s National Medical Center right here in Washington DC.

Pulse oximetry testing is non-invasive, easily performed, inexpensive, and requires little training of nursery personnel – even we have one at home. It can simply be done in conjunction with other in-the-nursery screening, such as hearing…and will require very few unnecessary echocardiograms.

I understand the role of this committee in ensuring that suitable newborn screening tests are developed and safe, effective treatments are available for implementation.

Congenital heart disease accounts for the majority of deaths from congenital defects in childhood – six times more common than chromosomal abnormalities.

Nearly twice as many children die from Congenital Heart Defects in the United States each year as from all forms of childhood cancers combined

By any standard, this is a public health need.

I am very respectful of the need for fiscal responsibility in health care  – but have little patience for more babies struggling or dying needlessly.  In the past 3 months alone, I personally know several families who have buried their babies due to undiagnosed heart defects.

Eve’s heart had about a week left when we flew her to Boston for open heart surgery 9 months ago.  Today, she is proof that medical professionals can work their magic on babies with severe heart issues – BUT ONLY when they are given the timely opportunity to do so.  I look forward to the opportunity to keep you informed as our own Minnesota study moves forward supporting the other clinical data pointing to the efficacy of pulse ox screening.  On behalf of the 40,000 US families whose babies will be diagnosed with heart disease this year – and the 4,000 who will not see their first birthdays, I sincerely thank you for your commitment to the health of newborns and children.

~Annamarie Saarinen, 1in100

———————————————–

*Although many of the missed cases will be only a ventriculoseptal 2 defect (VSD), an additional study showed that only 38% of patients with IAA, HLHS, COA, and aortic stenosis (AS) became symptomatic or were clinically diagnosed prior to discharge.7 Some types of CHD have complete mixing of venous and arterial blood, with resulting pulse oximeter readings (SpO2) in the low 90s, and many observers cannot recognize arterial desaturation until the SpO2 drops into the mid- to low-80s. Therefore, mild desaturation may indicate serious CHD and not be recognized.

** March of Dimes

Our heart community took some major hits this week…we lost some very, very precious babies here on earth.  But the angels in heaven gained some new playmates.  I think many of us take the greatest solace in the messages from those parents who have already experienced loss.  Levi Beers (Aiden’s dad) never fails to put the faith back in one’s soul. http://mysonisanangel.wordpress.com/   I am grateful for his counsel and friendship.

And there are so many more…Cora’s mom, Kaia’s mom, James’ mom, Allie’s mom…

Despite their still-fresh grief, they reach out to CHD families and GIVE.  I saw a post from Stephanie, Kaia’s mom, that said she would be sure to have Kaia look for Hazel and Pierce in heaven…show them around, ya know.  Just that visual image provided such comfort and peace.  I have yet to see anything more tragic than a coffin the size of a shoe box.  It’s wrong in every way.  But hearing the hope directly from these parents…that is pure light.

And in the middle of all the darkness this week – there has actually been a good deal of light.

There were two things that I started working on last summer – after Eve’s surgery.  Newborn screening for heart defects.  And pediatric heart devices for surgeons.

Those two things became the cornerstone priorities of 1in100.  There is clearly so much to do in the wide world of CHD.  But for the moment, these were the things I truly thought weren’t getting enough traction.  And that I might have some of the tools to tackle.

So this week – strangely enough, BOTH of these priorities saw major breakthroughs.

1in100 Priority 1 – Newborn Screening/Early Detection

This coming week, for the first time in memory, there will be an official report on the agenda at the national Newborn Screening Advisory Committee meeting in Washington DC.  It will be presented by the Mayo Clinic doctor that is on the Minnesota committee and that has been advising on our pulse ox pilot study here.  I will be providing comments at this meeting – and the next step is to submit the formal nomination to make universal screening for CHD at “standard of care” for all newborns.   Anticipating this will happen as soon as February.

On a related note, there are at least two CHD screening bills at the state level that have been introduced in recent weeks.  Cora’s Law and Chloe’s Law are both making headway.  Kudos to Kristine http://instructionsarenotincluded.blogspot.com/ and Kelly http://chdbabies.blogspot.com/ for their passion and drive.

1in100 Priority 2 – Pediatric Heart Devices

Six months ago I made the rounds with heart device companies to find out why it’s so damn hard to get pediatric size devices into the hands of surgeons operating on tiny hearts.  Some reasons? FDA restrictions, small market, too much R&D, too long…been keeping at it regardless, even provided testimony at an FDA workshop in the fall.  Fast forward: Email from a major heart valve company. As of this week, they are working to develop a pediatric heart valve!!  Everyone (FDA, Industry and Physicians) have now made commitments to the speedy clinical study and introduction of pediatric valves with proven safety to the market.

Stunned and grateful.  I could have never imagined so many good people would mobilize, so quickly, to move these initiatives forward in such a meaningful way.

February 13, 2010

This Valentine’s Weekend.  Put your heart in the right place.  Where your heart on your sleeve.  And Open Your Eyes.

One hundred global events mark the wind-down of Congenital Heart Defect Awareness Week, reinforcing the crusade against heart disease and heart defects in children as a year-round 24/7 battle.

On Saturday, February 13th – just as CHD Awareness Week 2010 is wrapping up – 100 events will be happening in tandem around the world.

There are no rules – these events are personalized to (and in honor of) advocates everywhere who are the front lines want to share what they know about the world’s most common birth defect.  One in one hundred babies born are afflicted with a congenital heart defect.  Personal stories, Newborn Screening, Medical Advancements, Heart Heroes and Rockstars.  It’s time the world heard what’s happening, what’s being done, and we can do.

Heart defect awareness is 24/7/365.  Every day is a good day to Know more and Do more.

1in100 EVENT ROSTER (updated weekly)

1. Annamarie & Paul Saarinen

In honor of Eve Isley and those who Do More everywhere.

Minneapolis, Minnesota

2. Rachel Boyum

In honor of Maggie Stewart

Lakeville, Minnesota

3. Amber Teater Schmidt

In honor of the 3^rd anniversary of Kyleigh’s Open Heart Surgery

Lexington. KY

4. Kristina Daugherty

In honor of heart warrior Aiden (tricuspid atresia – 6 months old, glenn scheduled for March 2010)

St, Louis, MO

5. Kristin Uchida Collier

In honor of Khloe and everyone dealing with CHDs

Denver, CO

6. Kristi Bono Pena

LOCATION

7. Karla Hider

In honor of angel Isla (dilated cardiomyopathy and mitral valve regurgitation)

Cambridge, United Kingdom

8. Kristine Brite McCormick

In honor of angel Cora

Indianapolis, IN (??)

9. Jessica Twigg

In honor of angel Ethin

Michigan

10. Lisa Roseman Brancato

In honor of

Chicago, IL

11. Michelle Shannon

Omaha, NE/Council Bluffs, IA

12. Amber Whitman

In honor of Addison and Cora

Franklin, IN

13. Isabelle & Ron Ouimette

In honor of Andre

Danville, MA

14. Melissa

INFO
Sacramento, CA

15. Holly

(son – TOF, now 28 months)

Burlington, VT

16. Abby Whaley

In honor of angel Allie

Raleigh, NC

17. Laurel Hubert

In honor of Lyla’s first heart birthday

LOCATION TBD

18. Ann Thompson

In honor of Eve

Emmons, Minnesota

19. Josh & Jenny Madigan

In honor of Maddie and Eve

Rosemount, Minnesota

20. Audra Grunwaldt

In honor of Ben

Souix Falls, South Dakota

21. Grete Lekanger

In honor of angel babies

Oslo, Norway

22. Richard & Carolyn Gray

In honor of hearts everywhere

Carmel, CA

23. Bonnie Burkert

In honor of Eve

Los Angeles, CA

24. Mary Calvano & It’s My Heart Michigan

In honor of Drew, CHD Warriors and Angels

TBD, Michigan

25. Levi & Tracy Beers

In honor of angel Aiden

Denver, CO

26. Tracy Dougherty

Centerville, Iowa

27. Kelli Carlson

In honor of Will

TBD, Rhode Island

28. Doug & Gretchen Kingland

In honor of Eve

Northwood, Iowa

29. Melissa Hingos

In honor of Jack & Eve

Raleigh, NC

30. Rene Saarinen

In honor of Eve

Hibbing, MN

31. Tom Reynolds

In honor of friends fighting CHD

Eagle, CO

32. Holly Anderson

Brooklyn Park, MN

33. Kris Huson

In honor of Eve

Minneapolis, MN

34. Monique Bowersox

In honor or Eve

Rochester, MN

35. Tony Weisshauer

Des Moines, IA

36. Denise Sanders

In honor of Michael

Clearwater, FL

Want to host a 1in100 Event?

Post here – Or email annamarie@1in100.org – Or post on Facebook.com/1in100.

Name, Location, Time of Day, in Honor of

More to come!

This is the most popular day for babies to be born…Wednesdays, I mean.  15.4% more births happen on Wednesday than on the average day.  Got me thinking – my first two children, Jack and Elle, were born on Thursdays.  Baby Eve, a Friday.  Not the first time I’ve fallen out of the statistical norm.  We are 1in100 for Pete’s sake.

So I did the math – and it means that today, 126 babies were born in the US with a heart defect.  A study from a few years back cites that routine newborn examinations STILL fail to detect more than half of babies with heart disease; examination at 6 weeks misses one third.

I personally know 17 children sleeping in intensive care units tonight.  I also know 11 families who have buried their babies in the past 5 months, including baby Cora’s parents.   She went home from the hospital with her mommy – just like half of the 126 other CHD babies born this day.  One month ago today, Cora died nursing in her mothers arms.

While this all seems very, very wrong I choose (partly for sanity, partly for peace) to view it as our window in humanity to make some things right.  Simple, safe newborn screening for the world’s most common birth defect is just a start.  Check it out.  Pass it along.

And welcome to the world, sweet Wednesday babies.

What is Newborn Screening with Pulse Oximetry?

Pulse oximetry monitoring uses a light source and sensor to measure oxygen in the blood.
A soft, wrapped sensor is wrapped around the baby’s foot.
Light passing through the foot measures the amount of oxygen in the blood.
The test is quick (3-5 minutes) and painless. Pulse oximetry monitoring should detect most heart defects.

Why is it important to check babies for heart defects?

If undetected, some congenital heart defects can cause serious or even life-threatening problems. Early detection and early treatment lead to better outcomes.

Why check the blood oxygen level with pulse oximetry?

A low oxygen saturation level may indicate the presence of a heart defect.

What are the benefits of the screening?

Babies are less likely to be sent home with unidentified heart problems – some of which can cause acute, emergency situations or even death.  If identified in the first 24-48 hours of life, medical teams are available for diagnosis and treatment of CHDs. Critical congenital heart defects, requiring immediate treatment or repair, can be performed before discharge from the hospital.

Will screening find all types of heart defects?

No current screening tool exists to detect CHDs 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).

What will happen if a baby has a low blood oxygen level?

The pulse oximetry test will be done again. If the level is still lower than expected, then an echocardiogram (sonogram of the heart) will be done. A pediatric cardiologist will ‘read’ the echocardiogram to check for the presence of a heart defect. If a CHD is found, the pediatric cardiologist will start collaborating on those findings and working on treatment options. Most heart defects can be corrected or improved with surgery, procedures and/or medications.

What are the other signs and symptoms of heart defects parents can watch for?

• Baby tires easily during feeding (falls asleep before feeding finishes)
• Sweating around the head, especially during feeding
• Fast breathing when at rest or sleeping
• Pale or bluish skin color
• Poor weight gain
• Sleeps a lot, not playful or curious for any length of time
• Puffy face, hands and/or feet
• Often irritable, difficult to console

Congenital Heart Defects (CHDs) are defects that are present at birth and affect the structure or function of the heart or vessels.

• Heart defects are the most common birth defect.
• CHDs occur in approximately one of every 100 births.
• About 40,000 babies with CHD are born in the US each year.
• Heart defects are the leading cause of newborn and infant death.
• Although some babies will be diagnosed before birth or at birth, sometimes the diagnosis is not made until days, weeks, months or even years later.