Tag Archives: screening
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.


The Letter.

The Letter.

Letter shared by Val Guerin…who sends a CHD awareness letter out each year to family and friends.  This was the highlight of our week…and there is absolutely no way we could have said any of this better.  Thank you Val, for all you do.  And to little Cora for being the HLHS fighter she is!  You are 1in100.
While preparations are being made to celebrate hearts for Valentine’s Day, families affected by congenital heart defects recognize February 7th to the 14th as Congenital Heart Defect Awareness Week. The intent of this letter is to promote awareness and understanding through education, resource provision, and to suggest ways you can help. It is also to celebrate the efforts of children and adults who live with congenital heart defects (CHDs) and to commemorate heart Angels who are no longer with us but who continue to inspire through their bravery in life. The hyperlinks in this letter are references as well as resource sites that may be valuable to other families.

Congenital heart defects occur even with excellent pre-natal care. Pre-natal scanning has enabled families to prepare for surgery before birth (Children’s Hospital of Philadelphia). Surgeries have even been conducted in utero (Children’s Hospital Boston). There are 35 known defects, and approximately 40,000 babies with CHDs are born each year in the US (Little Hearts, Inc.).

While CHDs are the most common birth defect, there is a lack of government funding  (Children’s Heart Foundation) and care centers for the increasing number of adults (Adult Congenital Heart Association).

The State of Connecticut has granted a proclamation to recognize Congenital Heart Defect Awareness Week, but this remains a temporary measure. A federally recognized week would increase the amount of funding for research and support for families. The Congenital Heart Information Network provides information on how you can contact local government representatives.

Another important facet of awareness is the implementation of routine pulse oximetry screeing for newborns to prevent loss of life due to undiagnosed heart defects. Little Hearts, Inc. published a member survey that found only 2 out of 100 babies were screened at birth for congenital heart defects. History was made this year as the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children made a recommendation to the Department of Health and Human Services for pulse oximetry screening to be part of every newborn screening. A Heart Mom and advocate who has been tirelessly working toward this goal details the progress at 1in100.org.

Children with CHDs may not present with outward symptoms. Many children have great endurance and participate in a multitude of sports. Alternatively, the older child in a stroller is not lazy, but may have weak stamina. The child sitting on the sidelines of a group activity may not be shy, but physically unable to participate. The baby diagnosed “failure to thrive” and the very thin child may not be results of physical neglect.

Many children with CHDs have endured at least one surgery in their lifetime and countless procedures ranging from clinical checkups such as electrocardiograms and echocardiograms to heart catheterizations, further surgery, and possible heart transplantation. If you would like to directly help inpatient children, Saving Little Hearts provides care packages and accepts sponsorship donations. TCHIN assists families with expenses during long hospital stays or visits far from home. Heart Support of America also provides grant funding to families.

Thank you for taking the time to read this letter. There are several support groups listed which offer various types of assistance but all work toward improving life for children and adults with congenital heart defects. If you use your writing skills to contact local legislators, your time to read about CHDs, forward this to a newly diagnosed family, or donate financially, you are an important part of the care for hearts that I believe is a true emphasis of Valentine’s Day.



Oh my.  Just got this today – we understand the newsletter also goes to pediatricians and cardiologist around the country.  So proud of our little Eve.  She has done some wonderful things in her short time here…thank you University of Minnesota Amplatz Children’s, Mayo Health System, Children’s Hospitals, Regions Hospital and Minnesota Department of Health for all you have done to make sure babies don’t go home with undiagnosed heart defects.  Rockstars.  All of you…


Nebraska: The Best of Intentions

Nebraska: The Best of Intentions

For those following the pulse oximetry newborn screening bill in Nebraska, information is in the article below.  I spoke to Senator’s office last week to see where are at.  In a nutshell.  First, let me say I believe this legislation was introduced in Nebraska with all the best intentions.  I commend the Klein family for doing all they can to help protect other families from missed and delayed diagnosis of CHD.

Next, the bill is stuck in committee and will likely stay there.  Officials intend to hold hearings and do study on the subject over the summer and potentially reintroduce in 2011.

Senator Rogert’s office was NOT aware of the newborn screening protocol making its way through the national committee.  They were thrilled to hear that if/when HHS makes a formal recommendation for screening with pulse oximetry, it will be easy work for states to pass “supportive” language that ensures each state’s hospitals are implementing screening (this is exactly how things worked when universal hearing screening took effect).


I’m attaching a PDF explaining how this all went down with hearing screening – for those interested.  Basically, history shows you achieve a rather prompt 50% hospital adoption rate as soon as Health and Human Services makes its recommendation that all babies be screened for something (in our case CCHD).   Things are a little different when conditions are added to the genetic screening panel.  By law, these recommendations from HHS are automatic “mandates”…which means no additional laws need to be passed at the state level.  Here in lies the difference.  Newborn screening is conducted by Department of Health labs and their workers.  It  is already within the government’s role.  Physical screenings, such as hearing screening – and soon, screening with pulse oximetry – are conducted by the HOSPITALS themselves, and hospital staff (in our case, labor & delivery nurses).  This requires state mandate to “officially” authorize.

Again, the reason the process works is that having been vetted by the committee and peers in medicine, hospitals and practitioners are already on board to adopt a recommendation once it’s been handed through HHS.  The state legislation helps hospitals get over the transitional hump of adoption though.  Basically, you can’t lag behind in implementation – and often the state laws provide appropriate, supportive tools to hospitals to aid them in deploying  a new screening.

Don’t forget, screening with pulse oximetry is only the SECOND physical screening to be suggested for universal adoption.   It actually took much longer for hearing screening.  We are in a good place.  Screening for severe jaundice is most likely the next one up for consideration.

I share this as a way of encouraging all of us to stay consistent with our mission and messaging to hospitals, physicians, policy officials and the general public. We know how many babies are affected by congenital heart defects and heart disease.  Today, the tide has turned in favor of identifying them sooner – improving outcomes and saving lives.  It’s actually an amazing thing.