The 2013 Consumer Task Force will spend the year learning about the newborn screening system from a national, state, and local level as well as hot-topic issues such as the retention of dried blood spots and how social media can help spread awareness. In May the Consumer Task Force members will come to Washington DC to participate in the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children meetings before beginning their own engagement projects.
Amanda Rose Adams had no clue babies could have heart problems until her own unborn son Liam was diagnosed through ultrasound with ten different congenital heart defects. After he was born, Liam was diagnosed with three orthopedic birth defects. In the ten years since Liam's original diagnosis, Amanda founded the 501 (c) 3 nonprofits Hypoplastic Right Hearts, an international online community with almost 1000 families about to host its third parent/doctor education seminar, and the Colorado Chapter of The Children's Heart Foundation (CHF). As a chapter president for CHF, Amanda sits on the national board, attends the Medical Advisory Board meetings, and authored a resolution in the State of Colorado that was unanimously approved by the State House and Senate in support of research to determine the correct cut-offs for high altitude pulse-ox screenings. Amanda holds a Master's Degree in Public Communication and Technology and is the author of Heart Warriors, A Family Faces Congenital Heart Disease (Behler Publications, 2012). Her work has been published by Scrubs Nursing Magazine and the American Academy of Pediatrics Section on Bioethics. Amanda is working on a sequel titled Heart Warriors Too, What Adults Born with Congenital Heart Disease Can Teach Us and Each Other. She is excited to work with the Consumer Task Force on an initiative to educate OB/GYN, General Practitioners, and Pediatricians about the benefits of Pulse Ox screening and the growing improvements in CHD survival and patient care.
Tamiko Brooks is not new to the area of Newborn Screening. In 2004, her professional journey in the Sickle Cell Community began with the Sickle Cell Disease Association of Illinois (www.scdai.org) as a volunteer, and shortly thereafter a full time employee. Tamiko is the current Program Coordinator for SCDAIs’ Newborn Screening Department. Her duties include, but are not limited to, providing education and counseling to families whose children have been newly diagnosed with sickle cell disease (SCD), sickle cell trait (SCT) and other abnormal hemoglobinapathies. Tamiko has two teenage girls, the oldest being a carrier of SCT and the youngest having SCD. In 2008 she received her Bachelors of Science degree in Healthcare Administration and recently began taking graduate level courses toward obtaining her Master's in Healthcare Administration. Tamiko has made it her life’s mission to educate the community at large about SCD, SCT, and the importance of Newborn Screening. Her dedication for advocacy has led her to carry this message to Capitol Hill by lobbying for equal healthcare rights and financial sources for those who suffer from this chronic, life-altering blood disorder. She looks forward to helping advance the field of SCD, as well as assisting families in understanding the significance of Newborn Screening.
Kelly Huber has been married for over thirteen years. She and her husband, Chad, have three wonderful children with a rare metabolic disorder. Before she would go onto college, marry and have children of her own; she was very involved with children. Her mother has been in education for over forty years. Growing up, Kelly enjoyed helping out in her mother’s Kindergarten classroom. She also babysat and helped raise over thirty children. Her career has been in Management, Quality and Research and Development. She has worked in the Retail, Automotive, and Aerospace Industries. Although, children and education have always been a huge part of Kelly’s life, it would take the birth of her second child before she would hear about Newborn Screening. She now realizes that Newborn Screening is the most important test of a child’s life.
Her first born child had the Newborn Screening test but it wasn’t talked about or explained to her what the significance was in any parenting classes or even in the hospital. Even though, Kelly’s oldest son was tested, the test did not contain the portion that he needed to indicate the rare metabolic disorder. When her daughter was born she recalled a nurse handing her a pamphlet on Newborn Screening. The nurse then asked if she was interested in signing a form that would test for other genetic disorders than the ones that were required, at that time, by the state. Again, no education was really passed onto Kelly. Soon Kelly and her husband, Chad, would be notified by the doctors that their daughter had a rare metabolic disorder and it was found in the Expanded Newborn Screening. At that moment she realized, if she had not signed the form, there would have been no other way than a crisis, with one of her children, to find out that this silent disorder was living among them. By the time her third child was born, she and her husband had the knowledge to test for it. Even though, all three children have this rare metabolic disorder, MCAD, they have been able to live healthy lives.
Without the intervention of Newborn Screening, even Expanded Newborn Screening, Kelly and her husband would have been at risk of losing all of their children to this silent disorder by now. To many of her family and friends, her children are beautiful, active, and healthy looking children thanks to Newborn Screening. Reality is that her three children will always have these genetic disorders but gaining education to keep them healthy has become the key to survival for them. Kelly’s hopes are that by being on the Consumer Task Force she will be able to pass on her knowledge about the most important test of a child’s life, Newborn Screening, and give every family a healthy start.
Kay Kelly lives with her husband and two amazing boys (ages 3 and 10 months) in Denver, CO. Her family was impacted by newborn screening when their youngest son screened positive for MCADD, a metabolic disorder, when he was three-days old. Although the diagnosis was overwhelming at first, Kay’s family has been blessed with a caring pediatrician and the wonderful metabolic specialists at Children’s Hospital of Colorado who have taught them everything they need to know to keep their son healthy. For the most part, he is just a normal, happy baby, but they have learned to carefully schedule his meals and monitor his food intake, especially during times of illness. Thanks to his early diagnosis through newborn screening and their ensuing education on MCADD, his health has never been in danger. Kay has a Bachelor’s degree in Communications and a Master’s degree in Public Administration from the University of Michigan. Her goal while working with the 2013 Consumer Task Force is to help ensure that all families with newborns have the ability to receive rapid notification of treatable conditions like MCADD so that babies born with these conditions can remain healthy. Kay blogs about her family’s experience with MCADD and their gratitude for the newborn screening system at MCADDforMoms.blogspot.com.
Michelle Leeker lost her 21-month-old son, Trevor, to Krabbe Disease on February 17, 2001. She has been advocating since to increase newborn screening in Kansas. She believes that each state should have the chance to have their children tested at birth for the same diseases, including the Leukodystrophies. She has been active on Kansas Newborn Committee since 2001 when she worked with the state of Kansas to increase their testing to 29 diseases. She wants her two other children to grow up and have a families of their own without worrying that they will lose a child to Krabbe Disease also.
In her professional life as a teacher, she has been teaching for 17 years with a Bachelors and Masters in Elementary Education, a Minor in Early Childhood and a Reading Specialist Degree. She works with the special needs population daily and knows how important it is to catch diseases early. She strives to educate each child to their fullest potential and help find alternate ways of learning. Every child should have the same chance of a healthy life!
Sara Lockie is a wife and a mom to two young boys. Her background includes bachelor’s and master’s degrees in education and a career as a middle school history and reading teacher. Life changed with the birth of her younger son, who was born with a list of complex congenital heart defects (CCHD). Multiple open heart surgeries allow him to live with a single ventricle. When doctors said her son was too medically fragile for day care, she gave up her teaching contract, but has not left the world of education. Instead, over the last two years, she has learned the importance of newborn screenings and the power of early intervention; she believes every parent needs to be educated on the life-saving potential of newborn screenings. Together with the American Heart Association and other Iowa heart families, she wants every baby to have a newborn pulse ox screening, which can detect CCHD.
Molly Martzke is the mother of three children. Two of them have extreme hearing loss. When her first son was born in 1997, hospitals did not routinely screen for hearing loss. He was not diagnosed until 10 months of age and by then was already experiencing developmental delays. Her daughter was born in 2003 and had her hearing screening performed at the hospital. Because she failed her screening, they were able to intervene early to prevent her from experiencing the problems her brother had. She was able to get hearing aids and a cochlear implant and she showed typical development for speech and language. Molly credits these astounding differences to newborn screening.
Molly has been involved with a variety of organizations in her state and on the national level to promote NBS, including the CDC and HRSA. She started her own parent organization, Wisconsin Families for Hands & Voices and is helping to plan the national Hands & Voices leadership conference. She has experience presenting at state and national conferences about parenting and genetics. Molly thinks that a lack of parental education about these screenings is to blame for the loss to follow up on the results of the screenings. She hopes to educate parents on the importance of screening and early detection on babies’ health.
Karey Padding is a mother, wife, hospital social worker, and volunteer/advocate for finding a cure for Cystic Fibrosis – she hopes that CF will soon stand for CURE FOUND! Why such a passion for finding a cure for Cystic Fibrosis? Her beautiful two year old son, Gavin James, of course! And it all started with the Kansas Newborn Screening. Karey was born and raised in a rural community in North Central Kansas. After completing her Bachelor’s Degrees in Social Work and Family Studies/Human Services at Kansas State University, she moved to the Kansas City area and started her career in the field of domestic violence while completing her Master's Degree in Clinical Social Work from The University of Kansas. She served on the front lines of providing crisis care, shelter options and safety planning to women who came to the ER looking for a way out of the cycle of violence in four major hospitals in the Kansas City area. After that, she began her career with an older generation of folks - she worked for Skilled Nursing Facilities, Assisted Living Facilities and Hospice Care. She then moved to Wichita in 2008 and resumed her medical social work career in a hospital setting. She is currently employed at Galichia Heart Hospital providing and facilitating discharge planning options to patients and families. After her son, Gavin James, was diagnosed with Cystic Fibrosis when he was just a few weeks old, she wanted to get involved with the CF community. She joined the Great Strides Walk event as a committee member and has been active in fundraising for three years and joined the Cystic Fibrosis Wine Opener event as a committee member last year. Her sweet boy, Gavin, likes dill pickle potato chips, Spongebob Squarepants, playing outside, taking walks around the cul-de-sac. It is because of him that she wants to celebrate the success of her baby's first test and educate other health professionals about of newborn screening.
Renee Stapley is a Navy wife and mother to two amazing boys (ages 3 and 10 months). She has a Masters Degree in Public Policy and is currently a stay at home mom. In 2012 the Stapley family was shocked when their seemingly healthy baby boy screened positive for Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD), a very rare and serious metabolic disorder. The baby was initially hospitalized at 9 days old to confirm the diagnosis, and subsequently he has been hospitalized 4 times in ten months. Because the condition was caught early on NBS, and a treatment plan was started immediately, the baby is growing and thriving and reaching all of his developmental milestones. He has been called a "success" story by his team of doctors.
Renee looks forward to sharing her experience with other parents and stakeholders, and supporting all parents who receive a positive NBS result. As scary and overwhelming as that initial diagnosis is, she wants to encourage parents that they can become the most important advocate for their children. With a good team of doctors and vigilant parents, children with metabolic disorders can have fairly normal lives. While their new life consists of a significant amount of doctor visits and the future is uncertain, they are enjoying every healthy day that they get with their two boys.
Colleen Zak is passionate patient advocate and the founder of a nonprofit, public charity for a rare disease that causes high infant mortality. Autosomal Recessive Polycystic Kidney (ARPKD) was considered so dismal, medical professionals would apologize upon learning her child was affected. Recognizing that Congenital Hepatic Fibrosis (CHF) was part of the disease process, the ARPKD/CHF Alliance created change, hope, and a voice for those affected, along with many firsts, including bereavement and support resources, family and professional education, fact sheets, clinical care guidelines, a youth program, a medical symposium, family conference, public service announcements, patient representation in professional settings, and support of legislation that benefits the patient population. As the president/CEO, Colleen is responsible for all programs and day-to-day operations. Under her leadership professional relationships were established and the largest research study in the world for this condition was generated, along with participation in the Global Rare Diseases Patient Registry and Data Repository (GRDR) by The Office of Rare Disease Research, a component of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH). Colleen is a registered nurse, a member of numerous professional organizations and honor societies, and a Patient Advocate Fellow Alumni with the Drug Information Association. Additionally she participates in the FDA Patient Representative Program, has been awarded numerous accolades and merit scholarships, and serves on a Study Endpoint extended core committee. Colleen is thrilled to be part of the 2013 Consumer Task Force on Newborn Screening.