“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)

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.

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30 Responses to ““These are not isolated incidents””

  1. christina rodriguez 25. May, 2010 at 8:06 am

    my son wasnt diagnosed with tof until he was 2 1/2 months old! we could have lost him. luckily his pda stayed open and thats what kept him alive because usually they close when the baby takes his first breath. we are very blessed but wish we would have known sooner so that we could better prepare for was awaiting us.

  2. This is so very true! Khloe was born and we did not know a thing! She has multiple defects that caused her to almost lose her life. Aortic Coarctation,Aortic Stenosis,PDA and Bicuspid Aortic valve. When we were in the hospital the night before I was released the nurse decided I would have to start supplemental feeding, Khloe was quickly losing weight. The nurse also heard a murmur and was concerned, she had the pediatrician look at Khloe in the morning and it was a murmur but the ped decided that it was nothing to be concerned about and released us both home that day. That evening we were going to bed and Khloe started screaming at the top of her lungs for no apparent reason she was dry and fed and we assumed it was just a new baby thing. I woke up throughout the night to try and feed with no success and in the end in the early morning day five of life she was barely living we rushed her back to the hospital that I had given birth to her at and luckily a very well trained ped realized 1. that she was possibly septic and 2. that she was dying in my arms because of her heart. That doctor saved Khloe’s life that day when she did an echo on Khloe’s heart in the ER and found her to have multiple heart defects. I still to this day don’t understand why I never knew about this.. Thank you for writing about these complicated matters that are not considered as deadly as they should be.

  3. TAPVR, not diagnosed until 3 weeks of age. She had to be intubated less than 12 hours after being diagnosed.

  4. My son had a CoA that was undiagnosed until he was 8 days old, and only then after he had gone into heart failure. He was intubated only 2 hours after diagnosis…

  5. Brooklyn’s nurse heard a murmur but the doctor said NO she heard wrong, your daughters heat is perfect. 9 days latter at home Brooklyn went into CHF. We were one of the lucky ones that were able to get her fixed. But I thank GOD everyday b/c I know things could be a whole lot worst. I pray for the families who have lost a child to CHD.

  6. My daughter was sent home “perfectly healthy”. When she was three weeks old, she began having problems with vomiting. Her doctor ordered tests to be done on her stomach/digestive system. They didn’t find anything wrong. When she was three months old, a nurse practitioner saw my baby girl for her “well child checkup”. I expressed my concern about the fact that she wasn’t gaining weight and was vomiting more than what is normal for an infant. She listened to my concerns then listened to my daughter’s heart and asked that we come back in the next day so the doctor could listen to her heart. It was on that day that we were first told of a possible heart defect and were scheduled to see a cardiologist six weeks later. We didn’t make it six weeks before we were in the hospital for dehydration due to the vomiting–only three weeks had passed. While at the hospital, we found that my daughter had a large VSD and a medium ASD. They put her on medication to attempt to close the holes, but the medication was ineffective. So, three weeks later (the same time as the originally scheduled dr. appt), my daughter’s body began shutting down and she had open heart surgery to repair her ASD and VSD. Thankfully, I still have my daughter to hold and to love. Her story could have been so much worse…with a simple pulse ox reading at the hospital prior to leaving though, it could have been so much easier too. Thank you for pushing for this legislation. I am telling every pregnant person I come in contact with about the importance of requesting this simple test.

  7. my daughter was diagnosed with TAPVR when she was 6 hours old. She was BLUE when she came out… I even have in pics, but within a few minutes she was “normal” colored, got 7 and 9 apgar scores!! Only reason they caught it I think is because when they brought her in to me after my nap, she was swaddled and I noticed she looked blue. Mentioned it to the nurse, and she agreed. Took Bri to the nursery. Next thing I know, she’s in the special care nursery surrounded by doctors, nurses and hooked up to monitors. They flew her to Childrens Mpls that night and I was discharged a few hrs later to be with her.

    Funny thing is, I was high risk pregnancy. I had my routine 20 week ultrasound. Had to get another ultrasound at 26 weeks because I guess they didn’t catch all the measurements they needed the first time. that is when they told me they thought that something was wrong because her bones were measuring small as well as her head. They had told me I should prepare for her to be born with either dwarfism or possible downs syndrome. i had really low amniotic fluid and it was decreasing slowly every week. I was monitored and had level 2 ultrasounds 2 times a WEEK from weeks 27-37 (she was born 2 weeks early), and NEVER was the heart ever mentioned, or even looked at twice.

    Then again, Dr Baker did tell me that TAPVR is one of the few defects that can NOT be detected in utero. But wow, what a shock to give birth and be prepared to possibly have a baby with downs only for it to end up not being downs but being something I was NOT at all prepared for.

    Brianna is now 4 (as of aug 31, 2010) and I do just want to say today is Brianna’s 4 year anniversary of her successful open heart surgery. Dr Moga at Childrens Mpls is the surgeon and I am forever grateful for his amazing work.

  8. I’m lucky my daughter was diagnosed in-utero so we knew. When she was born, because her VSDs were so large, the murmur was very low. All doctors and nurses kept saying that was innocent and knew it would close on their own. Still, we had a cardiologist look at her and she was diagnosed with three large VSDs and one moderate ASD. 6 weeks later she stopped eating and started sleeping a lot, the pediatrician diagnosed her with a stomach bug. Still, I challenged that diagnosis and took her to the hospital where her cardiologist practices. She was admitted for a week in CHF. 2 months later she got OHS to partially repair her heart.

  9. Rayme Elliott 11. Oct, 2010 at 5:57 am

    When Logan was born, he was the picture of perfect health. The nurse even commented right after birth his cry was so soft and sweet he sounded like a baby lamb. After 8 weeks of what we thought was colic, we went in for our “well” baby check up.We were told our son had a very serious heart problem. Immediatly flown by helicopter to Ronald Reagan UCLA Childrens Hospital, we were diagnosed with Tassaug-Bing, also known as D.O.R.V. Logan had 8 hour open heart surgery, came out on life support, back into surgery for a pacemaker, due to a heart block and made it! We had a 2 month stay made it home and exactly 1 year to the day his cheast was closed he died. His first angelversary is in 3 days and I am beside myself. Im glad we will now have the opportunity to do a test to find out sooner and prepare for whatever.

    Logans mom

  10. I’m lucky my daughter was diagnosed in-utero so we knew. When she was born, because her VSDs were so large, the murmur was very low. All doctors and nurses kept saying that was innocent and knew it would close on their own. Still, we had a cardiologist look at her and she was diagnosed with three large VSDs and one moderate ASD. 6 weeks later she stopped eating and started sleeping a lot, the pediatrician diagnosed her with a stomach bug. Still, I challenged that diagnosis and took her to the hospital where her cardiologist practices. She was admitted for a week in CHF. 2 months later she got OHS to partially repair her heart.

  11. autumn mckinnon 21. Jan, 2011 at 9:55 am

    my son was diagnosed with shone’s complex at 9 weeks old. had to wait 4 days for him to begin improving from pnemonia before the co-arc repair could be completed. took him to the e.r. 5 seperate times with no diagnosis of the heart problems or the pnemonia before the pediatrician finally found the murmur. that the ped. said sounded like a dump truck in my sons chest.

  12. My son had an ASD and still has a VSD. Neither were found in ultrasound; he was born at 27 weeks and it took getting cardiology involved over his non-closed PDA at 2 weeks old to discover the other issues.

  13. Sorry for the late reply Georgia…thank God you followed your instincts!! Hope she is doing well. We are so fortunate – those that can be repaired in time. Best, Annamarie

  14. Rayme, So sorry for this late reply…somehow your post didn’t show up in my comments box until just recently! I am so saddened to hear of your loss. After he went through so much! Do they know why his heart failed after those successes? I hope you made it through his angelversary…and keep holding him in your heart. Email direct if you ever need anything: annamarie@1in100.org Best, Annamarie

  15. We should still get together sometime!! I love hearing from Minnesota families. Email me sometime at annamarie@1in100.org. Hope all is well! Annamarie

  16. I also had a high-risk pregnancy. When I was 11 weeks pregnant, I was told that there was a 1% chance that I wouldn’t miscarry when they found a Cystic Hygroma along my daughter’s neck. Throughout my pregnancy I was warned of the possibility that she would be born with a chromosomal disorder. The CH disappeared, but during the last 5 weeks of my pregnancy, the doctor thought he saw several different CHDs. When he went to check again the baby would move and he couldn’t find it again. Scarlett was born on July 1, 2008 and showed no signs of having anything at all wrong with her. On July 4, while still in the hospital, we finally got the nursery to thoroughly examine her and do an echo. They did it to humor us. I’m glad we were so insistent, because they diagnosed her with TOF. Scarlett had every appearance of being a normal, healthy baby while we were in the hospital. The doctor told us that they never would have checked her heart if we hadn’t demanded it. I had never heard a single statistic about CHD until after Scarlett was diagnosed. Thank you so much for helping to spread awareness!

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  18. My son’s TAPVR with obstruction was not diagnosed until he was 17 days old and almost died. At first the dr’s thought he had pneumonia. He was very cyanotic and his finger nails were always very blue. It was the first thing I noticed about him after he was born. Very poor eater and literally slept 23.5 hours a day. His pulse OX was in the 60′s when we brought him in the day of his 2 week check up when this was caught. He had no murmur. His cardiologist said there was no way this would have been noticed at his 20wk ultrasound. He is a healthy, happy two year old now but still turns bright blue when he cries really hard and it scares us to death. His OHS surgery was performed in Spokane, WA.

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