What I learned about Newborn Screening at SACHDNC…

I learned…

1. that my fellow members of the Baby’s First Test Task Force are incredibly passionate about newborn screening and amazing individuals who are already doing things to help others in their communities. Click on their names to learn more about how amazing they are: Amanda Beard (Nebraska), Ruth Caruthers (West Virginia), Kee Chan, PhD (Massachusetts), Willa Doswell (Pennsylvania), Stacy Hines-Dowell (Tennessee), Mark Engman (District of Columbia), Julie Miller (Ohio), William C. Morris (Texas), Chantel H. Murray (Delaware) (who unfortunately, I did not get to meet in person!).

2. that the SACHDNC is the advisory committee to  Secretary of Health and Human Services Kathleen Sebelius. This advisory committee, among other things, is responsible for advising the secretary on which disorders should be added to the Recommended Uniform Screening Panel also known as RUSP.

3.  that room was filled with bright people, including (but certainly not limited to- a complete list of highly qualified committee members here):

Dr. Sara Copeland (designated Federal Official)

Dr. Joseph Bocchini (Chairperson of SACHDNC)

Dr. Don Bailey (Chairperson of Education and Training Sub-Committee)

Dr. Stephen McDonough 

Dr. Dietrich Matern

Andrea Williams

4. that the condition MPSI was approved to move to the evidence review phase of the process of being added (or not) to the recommended newborn screening panel (RUSP). I also learned that this condition can be very detrimental to a family, as I listened to the comments made a father of 3 MPSI children from Dallas Texas.

5. that the condition Pompe disease was approved to move to the evidence review phase of the process of being added (or not) to the recommended newborn screening panel(RUSP).  The first I had heard of this disease was from the movie Extraordinary Measures (starring Brendan Fraser and Harrison Ford).

6. that 2013 marks the 50th anniversary of NEWBORN SCREENING and that there are plans in the works to celebrate the event. The Center for Disease Control (CDC) and Association of Public Health Laboratories (APHL) are working together to spotlight this milestone.

7. that over 12,000 babies were identified for early treatment by New Born Screening in 2009

8. that when talking with new parents about Newborn Screening it is important to realize they may have never heard of it and it must be explained in simple terms with an action item attached… some ideas discussed were- Health Check up at BIRTH- make sure you ask for your baby’s results; you know/ask about your baby’s height and weight- do you know your baby’s NBS results?; Newborn Screening helps a Dr. see medical conditions before anyone else, giving you information that can help save your baby’s life.

9. that you never know who you are going to run into on the Super Shuttle at 2am… I had the pleasure of meeting Joyce Hooker, director of regional outreach, Mountain States Genetics Regional Collaborative.I had “met” Joyce on a conference call I took part in, but didn’t get the opportunity to meet her in person until we ended up on the same shuttle to the hotel where the meeting was taking place.  I also had the pleasure of meeting Jana Monaco, the first parent advocate to be on the SACHDNC. We had a nice chat and she is going to connect me with a few of her friends who have kiddos similar to Lady A.  Two other moms that I got the pleasure of meeting were Kristine Brite McCormick and Annamarie Saarinen who hae been instrumental (along with Ruth) in raising awareness about PULSE OX and CCHD, getting it added to the recommended panel and passing laws so that every baby is screened in their own states.

10. that medical foods including formula, low protein foods and vitamins are a considerable financial burden for many families dealing with metabolic disorders. Dr. Sue Berry gave an excellent overview of a study that examined these costs and hardships. It was insinuated that this was an issue that had to be addressed at the state level, regarding insurance coverage, etc. and was not an issue for the Secretary to address.

11. that nearly 50 years after the testing for PKU began… so much is still NOT KNOWN… including what the mechanism for neurotoxicity of phenylalanine is? (as was presented by Dr. Parisi from the NIH’s recent conference on it.)

12. that the Education and Training subcommittee suggested looking at other heritable disorders (outside those that are screened for at birth).  It is my hope and desire that this committee will seriously consider investigating and making biological diagnostic recommendations for AUTISM as the latest figures from the CDC place its incidence at 1 in 88 children (based on children born in 2000). This disorder has a much higher incidence than any of the current screened for disorders, even CHD (estimated at 1 in 100 children).  I am so passionate about this cause, as we were told by many doctors early on  that our daughter was possibly Autistic early in our journey.  I believe there are MANY, MANY unexplored connections between metabolic disorders (including mitochondrial disease) and Autism, that this committee could help to clarify.

13. that making a public comment is an amazing experience, creates a ton of butterflies in one’s stomach, but feels really worthwhile when perfect strangers tell you good job and that they appreciate your voice. Our task force presented this comment at the meeting (3 of us spoke: Bill Morris, me, and Ruth Caruthers, 3 minutes each) :

This comment is a GROUP COMMENT representing these 10 individuals on this task force, This comment does not reflect the official position of Genetic Alliance.

Closing the GAPS through Consumer Task Force Awareness…

Today we come together as the Baby’s First Test Consumer Task Force to ask the Secretary’s advisory committee for assistance.  We are all here today as concerned and invested consumers of the newborn screening process. Through our advocacy efforts we hope to close some Gaps that we feel as parents, must be addressed in order to adequately help each and every child affected by heritable disorders to have a long, healthy and productive life. We would like to commend and applaud the committee for the huge strides it has made in adding screenings to the recommended panel and bringing uniformity and awareness to the ever expanding field of detectable and treatable heritable disorders in children.

The GAPS we would like to focus our advocacy efforts on ARE: 1) What screenings are available/recommended and what is actually tested for in each state

2) Awareness at a primary care/pediatric care level so that warning symptoms may be caught, preliminary testing can begin and referrals can be made and as early as possible (for those disorders not currently being screened for and/or for later onset of those disorders that are screened for).

3) Communication and education with both the healthcare providers and the public about newborn screening

4) Being told your child has a positive newborn screen and what the treatment protocol/options/ testing should be

5) Standards of care and best practices that make a newborn screening system practical and effective for those with heritable disorders

1)  Our hope to close the Gap between what screenings are available/recommended by this committee and what is actually tested for in each state, is one that tops the list. We are asking the committee to further encourage the states to implement screening for all Recommended Uniform Screening Panel and secondary conditions by 2015. For task force member William Morris, son of 2 sons with genetic disorders, PKU and Krabbe Disease, the lack of any general understanding about newborn screening by parents is tragic at best, dangerous at worst. For instance, William points out that everyone knows that children are receiving immunizations to protect them from disease, but not many realize the role that screening plays in diagnosing disorders and focusing treatments for an ever-expanding number of rare disorders, many that are controlled with case specific intervention if started in a specific window. We are parents working at our state levels to get these panels implemented, but we need assistance from this committee to have a greater impact on awareness and ACTION of getting EVERY CHILD in EVERY STATE screened for ALL 57 DISORDERS. There are already so many factors that a affect the health of a child, which state you are born in should not be one of them.

2) Through Awareness, we hope to close the Gap between metabolic/genetic/newborn screening awareness at a primary care/pediatric care level so that warning symptoms may be caught, preliminary testing can begin and referrals can be made and as early as possible (especially for those disorders not currently being screened for and/or for later onset of those disorders that are screened for). It is our hope that this committee will provide further training and information to pediatricians (through APA) and PCP’s so that these disorders are not misdiagnosed as autism, bipolar disorder, speech delay, failure to thrive, developmental delay, mental retardation, cerebral palsy, epilepsy, reflux or colic, by practitioners who may not know to screen for metabolic disorders, beyond newborn screening at birth. Task force member, Kristi Wees, has experienced this gap first hand with her 3 year old daughter who is suspected of having a mitochondrial disorder with symptoms starting at 2 weeks of age. After nearly 3 years of testing and seeing 14 doctors/specialists, they still do not have confirmation or a treatment plan. Metabolic testing was not even considered by medical professionals until nearly a year and a half of escalating symptoms.

3) A study published in the American Journal of Obstetrics and Gynecology in May of 2005 showed that there are also gaps in communication and education with both the healthcare providers and the public about newborn screening. Therefore we believe that closing the educational gap amongst healthcare providers, making education for parents more consistent when there is a result (positive or negative) and exploring how to ensure more accountability to the state health department that each family is being educated about newborn screening, resources available, etc. during the prenatal period is essential. Consumer Task Force Member, Chantel Murray remembers when her son was diagnosed with Cystic Fibrosis based off of an inconclusive newborn screening test. Although she went to a high risk obstetrician for prenatal care and was a neonatal nurse herself she never received any education or information on newborn screening and found that she and her husband had a lot of questions about the results not knowing who to turn to for answers and help.

4) To echo, Ms. Murray concerns, Consumer Task force member Amanda Beard feels that the biggest gap with the current NBS system is that the  follow-up care on the screening tests is disorganized/inconsistent or in some cases non-existent. The lack of education provided to the people that work with the  parents, and to the parents themselves, is very detrimental to the child’s outcome. We acknowledge that there are professionals that have the desired education, but unfortunately those people are in the minority.  The lack of strict standard protocol awareness can significantly delay diagnosis and close windows of opportunity to get vital information about the child’s disorder, as well. Mrs. Beard, experienced this first hand with her son, Wyatt, failing his NBS hearing test. His case was treated as if his abnormal test result was actually normal, because the screening gives so many false positives. They went for months, not knowing if he was or wasn’t hearing impaired…  just sat in limbo. Now Wyatt is facing delays in speech and communication that can lead to behavior issues and learning delays.  Amanda has found through connections with Early Hearing Detection and Intervention, that the results of the Newborn Screening hearing test are routinely not valued to be reliable or urgent by the professionals and parents are desperately seeking information and support in the time period that they are being forced to endure.  It is her hope, that the committee will acknowledge this need and fill in the informational gap with regulated, mandatory, education for all providers of newborn screening. This will allow them to perform the screening and give recommendations for follow-up more effectively, along with providing more consistent support to the parents.

5) It’s amazing how far we’ve come in expanding newborn screening across the country, and this committee deserves a lot of credit for setting out national recommendations. Task force member Mark Engeman, believes it is also important for the Committee to explore standards and best practices that make a newborn screening system practical and effective. Mark’s son was born with Congenital Adrenal Hyperplasia (CAH), here in the District of Columbia, before DC screened for that disorder.  He survived long enough to be diagnosed and put on medication, and he is a thriving teenager.  If he has a serous illness or accident, he requires an emergency injection of hydrocortisone, or he would go into shock and likely die.  However, if Mark wasn’t there, and an ambulance came to take him to the hospital, the paramedics would not have the knowledge, authorization, or medication to give him the shot that could save his life.

As private citizens, parents and members of this task force, we will work with our local decision-makers to make changes and spread awareness in the coming year.  We hope that this committee would also look more closely at other elements of the newborn screening system, beyond the screens themselves, and assist us in CLOSING THE GAPS for future generations to come, so we can all continue to CONNECT THE DOTS, one blood spot at a time!

14. that this is the real reason we were at this meeting, and the real reason any of us are advocating for newborn screening: to save one baby at a time…one blood spot at a time, one newborn screening at a time, because PRIME TIME IS NOW…for our children. In memory and honor of Corbin, Grayson, and Claire (and all the other little one’s who are now in heaven), we do this for YOU and all your little friends to come.


About Empowered Advocacy

www.EmpoweredAdvocacy.com Pediatric Patient Advocate
This entry was posted in Advocacy, Genetics, Medical, Mitochondrial Disease, Newborn Screening and tagged , , , , , , , . Bookmark the permalink.

5 Responses to What I learned about Newborn Screening at SACHDNC…

  1. Great post! And thanks for all the mentions! I truly had an amazing time and I can’t wait till our next in-person meeting.

  2. elizabethkbaker says:

    Wow! Sounds incredible and that a lot of important information was shared!

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