CDC Newborn Screening: Rare Disorders

[Music] newborn screening saved my daughter's life um so I share from the perspective of being super grateful that this is a public health program because these are a lot of invisible conditions that you have no family history of you would have no way of knowing that this was a possibility for your life but it could be the thing that saves your child 's life hi I'm Susan and I live just outside of Seattle Washington and our newborn screening story started pretty typically I had a really healthy um pregnancy uh delivered at the hospital at some point must have had that heel prick test done um didn't hear anything back and then at Indy's twoe wellchild checkup we her physician mentioned at the end of the appointment we'd need to pop down to the lab to have a second screening done given that I wasn't really interested in a lot of extra testing I'm a pretty natural Mama um I didn't I I kind of pushed back honestly I kind of said is this really necessary and um and she said you know unless you have a a religious an ethical a reason not to do it it's very it's very uncommon that anything comes up out of this but if so they are treatable but oftentimes life-threatening conditions and so thank goodness we did because that was the blood draw that would reveal Indie had a treatable life-threatening metabolic disorder that with treatment she could go on and live a very normal healthy life um but without which the outcome would be very different so Indie was born and then diagnosed at 3 weeks with um maple syrup urine disease it's a disease that impacts about one in 200,000 people so it is one of the very rare among the metabolic disorders like she looked so healthy and she was doing all the things that babies should do and I'm a person that tends to believe that everything just works out and um so it was obviously was very shocking to us um but everything from that point has been so hopeful and there was a community that greeted us on the other side and um that's what I want to be part of I want to be part of helping and reassuring people that um although this may be the lifechanging news that you reive um there is so much support and there's so much hope in it and um it's not 40 years ago 20 years ago babies were passing away of these conditions and some still are you know because the conditions are there that you have its information that is um that's available and it's going on and you wouldn't know by looking at your child Indie never once showed any symptoms so even when I Googled even when she was presumably positive and I lived over 4 days wondering does she does she not it was out of range but but it's she hasn't been diagnosed yet you know when I looked at the symptoms she didn't have any of those and so um we could have been in a very different position if that screening wasn't in place to give us the information to start the life-saving uh treatment that she needs for life