The following remarks were given in person by members of the Consumer Task Force at the May 2012 SACHDNC meeting in Washington, DC.

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!