For new parents, nothing is more exciting than hearing their newborn baby scream as they welcome themself into the world. When they leave the hospital to start their new lives, newborns don’t anticipate returning. But some new parents may not realize that there are a number of potentially devastating diseases that can be present in a newborn, yet hidden at the time of birth. These diseases, if undetected, have the potential to cause medical problems as the baby grows, and severely alter a life that could have otherwise been normal.
The Florida Department of Health offers all babies born in our state a newborn screening test, unless the parents refuse. Approximately 24 hours after birth, a few drops of blood will be taken from the baby’s heel. The hospital sends the blood sample to the Florida Newborn Screening Lab in Jacksonville, Florida. The sample is tested for 34 different disorders, predominately metabolic, and the results are sent to the Children’s Medical Services (CMS’) central office in Tallahassee. Follow-up Nurses at the central office will notify the child’s pediatrician and make sure the baby is referred for confirmatory testing at one of the 12 referral centers around the state if an abnormality is detected.
Melissa Perez, a mother whose child participated in Newborn Screening, admits, “When you’re in labor, you have people coming into town for the birth of your baby, your hormones are raging, and you forget about the Newborn Screening testing they do. I feel that’s why it’s so important for it to be an automatic test for newborns; there is so much going on during labor and the process that it’s a failsafe that is already in place for the benefit of the family and of the child.”
Melissa Perez is one parent who received a follow-up call about how her newborn son had PKU, Phenylketonuria, a rare metabolic disorder which affects the way the body breaks down protein and could cause severe brain damage in babies if left untreated. In her son’s case, the early detection and treatment from Newborn Screening Services made all the difference in the world.
“I can’t deny the fact that when the phone call came; I thought it was a horrible practical joke. After getting the information I needed, my son started getting treatment when he was 6 days old, preventing brain damage that could have started at 10 days of age. Because the results came back so quickly and treatment was able to start so early, brain damage was prevented.”
Through CMS, Melissa and her family were paired up with a dietician at Shands Hospital in Gainesville, where they commute every six months for check-ups. At the beginning, Melissa would call daily with questions and concerns. “Our dietician has always been there for me. She never got annoyed, was always available to answer questions and thrilled to help me, support me and provide me with information.”
Melissa’s son is now six years old and beginning first grade this year. He is able to participate like the rest of his classmates through the help and understanding of his teachers, family and dietician. “My son is being treated through a very restricted diet which includes medically modified foods and medical formula that contains all of his proteins. He is doing great because the dietician is amazing. From her advice, we teach him that everyone’s body is different, so certain food is healthy for certain bodies and not for others. “
Newborn screening helps families take the necessary steps following the screening of their child with CMS referral services around the state. Melissa raves about how Newborn Screening is also economically the best decision, calling it “economically sound” compared to finding out about the disease once it has already begun to damage the body.
The American Academy of Pediatrics has estimated that Newborn Screening saves approximately $900,000 per newborn in their lifetime through early detection and treatment (Source: AAP, May 2006, Vol 117, #5; A Supplement to Pediatrics). The long-term, high-cost savings from babies identified with treatable disorders through newborn screening results from these children living relatively normal lives after treatment, and not requiring state-sponsored, specialty programs through Florida’s health care and school systems.
“I am eternally grateful for the Newborn Screening process and the legislators who decided to mandate Newborn Screening in Florida,” says Melissa. There is “absolutely no doubt, [that] Newborn Screening saves lives. “
For more information on Florida’s Newborn Screening Program, visit http://www.doh.state.fl.us/Cms/NewbornScreening/index.html or http://www.cms-kids.com/families/newborn_screening/newborn_screening.html.