As a seasoned mom of four children ages, 19, 16 12 1/2 and 7, I wanted to share my perspective on newborn screening. They were each screened in the hospital where they were born and all was fine and each are not any worse for the wear as a result of their little heel prick. PKU is just one disorder that is a part of newborn screening. Currently, the American College of Medical Genetics recommends each state screen for 29 disorders. My two younger children have a disorder that was not being screened for at the time of their births. Nine years ago, Stephen was 3 1/2 and that is when his undetected disorder revealed itself. Imagine finding your beautiful, healthy toddler unrepsonsive and breathing faster than you can imagine with a pulse that took EMTs 3 times to get because they couldn't count fast enough. Within 24 hours, Stephen was in a coma on life support and we got the diagnosis. It was too late however, to prevent severe brain damage. He remained in that state for 3 weeks and we nearly lost him. He spent almost 4 weeks in the PICU and 6 weeks in rehab. He survived, but is now a child with severe disabilities unable to walk or talk or eat. He is fed through a G Tube, is legally blind, takes 4 medications for seizure control and has many orthopedic issues. Remember, he appeared to be normal prior to his crisis and was running around with his big brothers, playing with is Thomas the Tank Engine trains the day before he got sick. he was my little buddy that went everywhere with me. Our latest hurdle is that Stephen has to have major surgery this fall to place titanium rods in his back to correct his scoliosis due to his lack of muscle strength and spasticity. He has had surgery for retracted testicles due to spasticity. Hospital admissions are a part of life for him along with the high medical bills. We also live with the perpetual grief of all that we have lost with Stephen. Our dreams for him are very different from what they were when he was born. All of this could have been prevented if his disorder was part of the newborn screening process at the time of his birth. My daughter is the youngest and she was screened in utero after what we learned through Stephen. As sad as we were, we were happy that we found out early and by doing so, she benefited from early management and treatment of her disorder and continues to do so. She is living the life that Stephen was robbed of. If I can offer one piece of honest to goodness advice, please make sure your baby gets his or her newborn screening. We had no indication at all that we were at risk of having one of these disorders in our family. Most people don't. For all having babies, this is a very special time in your life and as you pick our nurseries, car seats, clothes, etc., you will be doing your baby a great disservice if you opt out of the newborn screening, because you never know if it will come back to haunt you like it did for us and our chidlren were screened. It is such a simple screening test in which most people move on with life and never have to give a second thought to, but for a certain few, it will be a lifesaving test done that can make the difference of a life like my daughter's or one like Stephen's. Not a day goes by that I don't think about all of the "what ifs". As for the government using the blood spot cards for DNA testing, be cautious of people who are trying to taint a program that was developed years ago to protect babie's health and save lives from disorders that are very unforgiving if a baby is affected. There is a lot of propoganda out there from people who really don't grasp the true consequences of these disorders if not screened for. Much effort is being done to ensure that parents are properly educated on the whole process to include to blood spot card storage and use. Parental consent is included. Remember, the sole purpose of newborn screening is to save lives and it is doing so each day as more babies are being picked up with their disorders early and spared the life Stephen lives. As for the storage and use, it is a separate issue and is dealt with separately. It too is not some scifi activity taking place by the government to rob people of their DNA and use it for negative reasons. People are trying to find ways to better understand these disorders to improve screening, treatment and management. As a country, we are all demanding more research for cancer cures, Alzheimers, Parkinsons, etc. We need it with metabolic disorders too because without it, babies may never have a childhood or reach adulthood. When you look at your new baby, protect his or her life and the dreams you have for him or her. Get your baby screened and educate yourself on newborn screening from reputable medical staff and websites like that given in another post. The National Newborn Screening and Genetics Resource Center, Genetic Alliance and the American College of Medical Genetics are all wonderful sites to go to.
