Early Intervention: The Importance of Newborn Screening

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1 Early Intervention: The Importance of Newborn Screening July is the 50 th anniversary of screening newborns for genetic, endocrine and metabolic diseases. Missouri Kids Count is celebrating one of our greatest public health achievements by helping educate our audience about newborn screenings in Missouri; the process and why it s done, what happens when tests are done and what happens after families receive a positive diagnosis. Why screen newborns? Newborn screening helps in early identification of several genetic, endocrine and metabolic diseases. A baby is saved 2 out of every 3 days through newborn screenings. Saved means that a child s life is improved with early detection and intervention. Many of these diseases if not caught early lead to brain damage, disability, and death. While many are not curable, they are medically manageable if caught early and thus improve lives. In addition to lives saved, newborn screenings save money in the long run with reduced extended care costs and what are called diagnostic odyssey costs; money spent on trying to figure out what is wrong, testing for variety of rare disorders later in life when not caught at birth. The screening program in Missouri began in 1965, and now Missouri screens for more of these diseases than any other state. The diseases that newborn screenings look for do not show any symptoms in the newborns. This is why getting the screenings within of birth are so important. Most children who are diagnosed early can live full, productive lives, and timing makes all the difference. The blood spot test is a simple prick in a newborn s heel, placing spots of blood onto a card that is then sent to the Missouri State Public Health Lab for testing. 1

2 The State Public Health Lab provides courier service for all large birthing centers or courier to the Local Public Health Agency (LPHA) in an area. These screenings are a specialty tests so the lab runs them as soon as they get them in order to give prompt results and start any necessary interventions as soon as possible. The state lab tests over 90,000 Newborn Screening samples annually. The test run by the lab costs $65 and screens for over 70 disorders, which is charged to the family and is very cost effective in comparison to testing later in life when disease are more difficult to detect. The newborn screening process is a collaborative effort between Missouri s Birthing Centers, the State Public Health Laboratory, the Bureau of Genetics and Healthy Childhood, and the contracted Resource Centers to provide the specimen collection, screening, follow- up, diagnostic testing, education, disease management, and treatment for all identified infants. Some examples of treatments and respective diagnoses are: Diet restriction (PKU) Medication (Sickle Cell Anemia) Enzyme replacement (Cystic Fibrosis) Stem cell transplant (SCID) Newborn Screening in Missouri Disorder Years of Screening Babies Identified PKU * Hypothyroidism 35 1,221* Galactosemia Hemoglobinopathies 25 1,174 CAH Amino Acid (non- PKU) 9 32 Fatty Acid Organic Acid 9 69 Cystic Fibrosis Biotinidase Deficiency 6 67 LSD 19 months 66 **Total = 3,305 *The totals of babies found for the early years were estimated for this disorder using the average detection rates from the last 25 years. **This total does not include confirmed hearing deficiency and heart defects 2

3 For a list of disorders newborns born in Missouri are screened for click here. For a more in- depth look at what happens in the testing lab, take a look at this video: What comes after testing? Testing of the newborn screening sample by the State Public Health Laboratory is just one part of the newborn screening process. Every state newborn screening program consists of the following parts: Screening collection of newborn blood samples and testing to identify infants with potential markers of congenital conditions; Follow- up rapid location and referral of screen- positive infants; Diagnosis medical evaluation and additional testing of screen- positive infants to make a definitive diagnosis or to rule out a disorder; Management rapid planning and implementation of long- term therapy for infants diagnosed with a newborn screening disorder; Evaluation assessment of the previous four activities to identify opportunities for quality improvement and gauge benefits to the patient, family, and society; and Education education of parents, primary care providers, legislators, newborn screening personnel (laboratory and follow- up staff) and stakeholders. What happens when a screening comes back positive? If the newborn screening results come back as high risk, the baby will be referred to one of four genetic tertiary centers in the state. A high risk newborn screen means that the baby is at a high risk for a specific disorder. Because the newborn screen is simply a screen and not a diagnostic test, these babies require immediate follow- up so that further testing can be done to determine if the baby does in fact have the disorder. Time is of the essence, because with many of the disorders, treatment must be started as soon as possible to prevent the onset of developmental delays or other permanent damage. 3

4 Many children who are diagnosed early enough go on to live full productive lives because their treatment was started at the very beginning of life. For a look at how PKU has affected Kevin Alexander s life, take a look at this video: How are Missouri Kids Count Partnerships supporting children with genetic disorders and disabilities? Sarah s Story When Rolla resident Sarah Sullivan gave birth to her son, Emmett, the heel stick in the hospital and the subsequent tests that followed were the first piece of the puzzle in his development. It s a mystery when your baby is born, said Sarah. You don t know what that little body has going on. You just expect everything to be perfect. The newborn screening is the first place to be aware of red flags, and it is a crucial tool in making sure a baby gets the help he or she needs. Emmett left the hospital, and as time passed, Sarah saw that Emmett wasn t developing as fast as his peers. Subsequent testing, including a Fluorescence in situ hybridization (FISH) test that maps the genetic material in a person's cells, were done on Emmett. The FISH test can be used to visualize specific genes or portions of genes. We found out Emmett had a genetic abnormality called triplication 16p11.2, she explained. Emmett was not gaining weight, and was slow to crawl. Because of the newborn and early screening, we were already aware that he would need intervention. Newborn and early screening made all the difference in Emmett s development. It was traumatic for us, but not as traumatic as it could have been if we hadn t known Emmett s situation. Because we were aware early on that he was going to require strategic support, we were able to get quickly connected to the programs and services he would need, Sarah said. We were given information about several resources, which we followed up on, and then we heard about The Community Partnership s Capable Kids and Families program in Rolla. Capable Kids and Families, a program founded in Rolla almost 15 years ago, serves families with children with disabilities by offering a lending library of therapeutic equipment that might otherwise be cost- prohibitive or not covered by insurance, weekly playgroups in a safe and accessible play room, home visits, networking, and other resources. 4

5 This program connected us with other families with children who had special needs, said Sarah. It can be isolating and lonely when you have a child with special needs. It was good to talk to other people, and get reliable information, moral support and advice. Sarah said that getting the newborn and early screenings put Emmett on the right track earlier than he might have been had no screenings been done. We owe it to our babies to get that information quickly, she said. The sooner the better. Every day matters. It s basically a way to start finding answers before you even know the questions." Emmett is almost seven years old now. His smile lights up the room. "He's doing well," said his mother. "He's making progress, and we are grateful for that. While it can be scary to find out that something could be wrong with your baby, it can also be comforting to know you can get started working on these challenges and looking for help faster. Information about The Community Partnership s Capable Kids and Families can be found at their website at or on Facebook. To learn more about Camp Capable Kids in Rolla, take a look at this video: Additional Information about Newborn Screening Newborn screening literature is available through the department s website at The newborn screening booklet is titled Newborn Screening Protect Your Newborn and the newborn hearing screening pamphlet is titled Your Baby s First Hearing Test. For more information on Missouri s Newborn Screening Program please contact the Department of Health and Senior Services at or visit 5