Hello everyone. Thank you for the invitation. I am very happy to talk to you today about in Boehner's of metabolism and the florida newborn screening program. Because this is one of my passions And hopefully at the end of the lecture today you feel as passionate about this program as I feel. Yeah, I will start with some disclosures. I am a principal investigator for multi multi center clinical trials with several companies including Alexian Amicus, biomarin Genzyme home Ology, Collado, Mallinckrodt, All Transgenics. I've also been invited to be a consultant or advisor for advisory boards for the company's biomarin Horizon and ultra eugenics. However, the topic doesn't have anything to do with that but just to be safe. At the end of the lecture you should be able to recognize some of the owners of metabolism. There are many of them. But at least you know which ones are identified by the newborn screening program here in florida. I also like for the participant to understand that actual process from when a baby gets the newborn screening done to when they are identified or when they are diagnosed with having a condition and the last the last objective is for the pediatrician or primary care physician. What is their role in all of these? In order to talk about the newborn screening, we have to talk about mm The journey it started many, many years ago and as you can see on the right side it's black and white. It was one of the first articles that were published about the newborn screening. And it is that where you have the filter card that was done on babies. Then on the left side you have the actual like 2021 where we have very similar approach with a hill brick. Uh the only difference is the actual technology that is used in the lab. And also that in that first picture the identified disorder was only one and the name was picking you. So let's talk about PK you because it was the first I know the first disorder that was identified or that created and led to the creation of the newborn screening. Um The picture here we have Dr falling who was a scientist and physician who was the person that created the word or discovered P. K. U. in 1930 for his legacy was has been instrumental but he didn't do it alone. I want to introduce to you the people behind the scenes. And these were actually families. You'll see here um egg the mom England, she was Barney England was the mother of two kids who had intellectual disability. What she said was they were born normal. And then all of a sudden they started regressing and she knew that there was something with their urine. The urine smell differently distinctively. And she was determined that it had to do with their urine. So this mother was so perseverance that she would go, she heard about dr falling and she knew he was a scientist. So she would go to his um his practice and requested that he would look at her Children. He finally agreed because they had a common friend who talked to him about the kids. So he agreed to check out the urine. So this mother for several months kept bringing urine sample after urine sample to Dr falling to look at. And in this sample he was able to identify key tones in the form of final or rings. So they he called it final Kita Nouria. He found that these kids urine had the mosquitoes. So it's called final kitamura because it's built in the urine. And that is how the coin the term was going for P. K. U. After that there were other players such as I get confused. Here we go. Um Such as dr good three. Dr guthrie was the person that led to the to the discovery or he invented the newborn screening. He was the person that found a simple way to detect PK you in the newborn population. And why was he interested? Well again there were some of the stars aligned and he had a child who his second son was. Um He's there on the picture john and he was he had intellectual disability. He did not have P. K. U. He had intellectual disability which intellectual disability which led it's not a good three to be involved or interested in P. K. U. Or in ways to find how to help people with intellectual disabilities. His wife uh niece Margaret was diagnosed with P. K. U. So dad led to dr guthrie to be even more involved and use his scientific knowledge. He um he was a doctor and also had a lab and he was more interested in in cancer genetics. But he this led him to look into ways to find how to identify babies with P. K. U. And so that's how the newborn screening was born. Not only that but how so now we know how it was discovered then we know how we could identify it but how do we treat it? So you see on that picture mary jones and she like jones mary was a determined mom. She her daughter was identified that she had P. K. U. And she was determined to find a cure for P. K. U. And this is how she went to the offices of different doctors specifically big girl and and they were they got together these doctors after the these uh mary jones was insisting in having someone look at her daughter and try to fix you know find a way to take care of her. And so they got together and they said okay well they created a picture you formula or a diet which we still use today diet for patients with P. K. U. That are identified by the newborn screening and then they can lead normal lives when I went to medical school as much as I learned about BK you what I learned was that it was a disorder that lead to intellectual disability must the other microcephaly seizures. But I really didn't know the extent of P. K. U. And how after the newborn screening we have people leading normal lives. Thanks to that diet that was created many years ago, I wanted to show you how it varies from different countries. How the newborn screening doctor got three developed it in 1965. Of course I'm showing you 1987th for Puerto Rico because I'm from Puerto Rico. And but you could see on the picture that it in the part of Canada and the US you had P. K. U. Or the newborn screening started at that time. But it wasn't until later to the eighties that other countries started adding or started using the newborn screening program. And what are what is the what are the tenants of the newborn screen for the newborn screening? What do you need to think of, what is the purpose of these kind of these programs in order to add disorders to the newborn screening. You have to think about these these different um important factors. It has to a cure with significant frequency. It has to be there has to be a method that you that is inexpensive and reliable that you can test for. There has to be effective treatment for an intervention and if the baby is untreated the baby could die or develop significant neurological Kuala or significant problems. And many of these babies that are affected will appear normal at birth. So you have to find a way to identify them before they look like they are sick. So how are they selected? It varies from or used to vary from ST state by state. Still is different in some states because there are some states that have them, their minimum of disorders identified through their program. And there are, there are states that are Beyond what it is recommended. They test for over 40 different disorders. So there were laws that were passed so that we would have at least a minimum required screening throughout the United States. And in 2002, the Maternal and Child Health Bureau commissioned the American College of Medical Genetics to analyze the literature and to develop a consensus on which disorders should be added. They created what we know or we call now as a Rusk. They recommended uniform screening panel and that should be followed at least the minimum should be followed by all of the states. people ask, how is it funded? Well, it is about $15 per life birth from the hospital. And there's also some building for for the insurance or Medicaid. This is what I was telling you about the recommended uniform screening panel or risk. There are 35 main conditions or core conditions and the list is long. Uh and the names are weird because there are different enzymes that we identify and you can divide them as having either organic Macedonia's or um um fatty acid oxidation disorders. This is kind of like to show you, how are these core conditions divided? You have your organic acid emails, you have your fatty acid oxidation disorders, amino acid disorders. PK you is an amino acid disorder of phenylalanine. You have your endocrine disorders him. Um Hey, myoglobin, open these and other and the other includes things like uh galaxy miA to cystic fibrosis to the most recent one, spinal muscular atrophy. So the other is a big umbrella of different disorders that cannot be allocated into a group of disorders. There are other Conditions. So it's not only those 35, but we have the rust decided on secondary conditions and these are 26 disorders that why are they there? Why are they secondary, their secondary? Because we were able to pick them up when we were looking for the 1st 35 due to the technology we were able to identify. For example, I'm going to give you an easy one. Um The initial the core includes tyrosine EMEA type one because tyrosine EMEA type one is an amino acid disorder that can cause liver failure and liver cancer. And and so it's a devastating disorder. And there is treatment available. And so but as part of that, you are also picking up type two and type three. So the question is, what do you do with that? Do you just say you know what, I'm not going to look at it. I know that this baby has type two or type three but because they won't get they won't have liver failure. I won't look at it. But they can have cataracts or they can have ulcers on their I'm sorry not cataracts but ulcers on um corneal ulcers. So you could help by putting them on a diet and you can alleviate some of the symptoms if you know it. So so that is why some of these secondary conditions may not be life threatening. But there may be something that is can be treated and that because we were able to identify we should continue and let the family know. I wanted to show you you because Some people ask but but okay, well how did the rust come up with the 35 disorders? Like why why Pecan? You will pick you was you know the first but why? Mm cod. Which I mentioned in a little bit or and why not fragile X. Which is a condition that causes autism? So why? Because they have X scoring criteria. That is from the prevalence of the disorder too. Um Is there treatment available like I mentioned um Is the test gonna turn around the turnaround time for the test quick enough because we don't want to result in three weeks from now. If it's a newborn screening we should have the results back by five days of life. So we can do something about it quick. So all of these. And the list is, there is a long list leads to the score. And on this other graph you can see the different disorders on the bottom and you can see that some of them have super high scores like M cod where it's a fatty acid oxidation disorder that is, that is life threatening. And there's very quick easy to treat because you just avoid fasting and then you have on the other end, the lowest score is prob which is not part of the rust but it is, it is part of a newborn screening in a couple of states. So the problem with that is that you will have the rasp and then you have lots of, I will say lots of uh community folks trying to help because they want to be advocates and raise awareness for different disorders but they will jump the gun. So in the case of crab, I'm gonna use that case. They added it into the new york program because there was a lot of push from the from uh family that was known and they got it approved. So they're doing you burn screening for that. But we really don't have actual treatment or genotyping a type of relations. There's a lot of gap knowledge in between. And as you can see the scoring system is even super low but still is added in one of the newborn screening programs and it can create a lot of um negative feedback from families that have gone through the process I wanted to showcase and cat because that's the one that the highest score on that graph that I showed you before the M cat was added to the numerous screening. 25- 30% of babies died at presentation. And then they were 25 to 33% had long term Sekula nor logic. Sekula because they were found to be unconscious due to hypoglycemic seizures or something in that regard. But after the newborn screening, according to the north Carolina, newborn screen data, there were, there have been no debts after it, it was implemented and there is no neuron logics. Iguala, I can tell you from our experience, one of my worst cases that I follow here in florida is a family who I met because the baby had was identified for the newborn screening as having M cat. And when I asked them if they knew anything about Em Cat, they said, yes, we know and why And it's because they had lost a three year old daughter to M cat. And to me that was mind blowing, I was very it was so sad. It's such a tragedy that should have been avoided. Well they did not know that Michael was forever. I don't think they ever went to see a specialists. So they had not been seen by a metabolic geneticist. And so they were followed by the pediatrician and parents said that they were doing their newspaper route and she started vomiting. And instead of taking her to the er which is what would go if you have them cat and you start you start throwing up. You have to get energy source and the energy source would be dexterous through the I. V. So they didn't know they just put her to sleep and she never woke up. So those things are they are completely 100% preventable if you give the education that is needed. Another thing that happens to our patients with metabolic disorders that they present to the E. R. When um when I send them to our our team sends them to but they look great. And so in the er the physicians are not aware of the disorder or they say oh but the kid looks great or has no no hypoglycemia and send them back they'll send them home. Not knowing that when we send them is to prevent a metabolic compensation is to prevent them from getting sick. So we sent them ahead of the game because that will prevent a neurological iguala. Now that we kind of like know about the newborn screening and how the disorders have been added to the newborn screening program and how they are scored and how successful the newborn screening is we should talk about our state? How is the florida Department of Health newborn screening program and what is the process? The florida Department of Health newborn screening program Includes the 35 core disorders that we have from the rust. So we identify all of them And we identified 22 secondary conditions. There is a total of 57 disorders that are identified by the newborn screening in the state of Florida. And well there are four that we shouldn't because there are no part of the rules. But we do anyway. So that's that. So no, not bad at all. I think you should know that the state is divided in three metabolic centers. There are there is a university of florida in Gainesville than us and then in Miami University of Miami. And so any baby that is born in any of the catchment area is referred to one of those centers, Our lab, not our but the state lab runs from monday through saturday. And we are open. So that means that we get the newborn screening results monday through saturday. There are Over 1000 samples that are run in the lab every day and I don't know who is listening to me today. But maybe there are some primary care physicians know that I do not want to make a phone call on a saturday to your office um because because it's saturday but we do and we have a team of our newborn screening program and we have to do it because there are specific disorders that have been picked literally hand picked, that we need to call out on a self saturday, we do not call every disorder on saturday, we don't even call every disorder on friday. There are some new disorders that are called only monday through thursday because there's nothing to do for the family and it only can cause harm to the family to be without any information for the weekend. So these disorders are handpicked to be called on a saturday, that means that if we are calling a family physician on a saturday, it is an emergency and we are generally worried that this baby may not make it until monday. This is a map to show you what the catchment area is okay, don't get it upset. You f looks like they have all of the cases in the whole wide world, they have a long like, but it's it's more about the birth than it is about the location. So um my point being it's distributed in a way that the that we share a similar amount of uh of referrals every year, I will say that it doesn't make much sense that someone has to come three hours away to see us and gold has, you know, instead of going to Miami, so we do have some people that have to travel because they, the way it's designed, the catchment area is designed, they have to travel with the improvement of technology. We are able to offer tele help to our long distance patients. But I I would um I would argue that it would be good to read. We do the catchment area so that our families have less travel time to come. I don't know if anyone I'm going to go back one. I will say that I'm talking about inborn errors of metabolism and also genetic disorders. So biotin. Eight days we have X. L. D. We have um pump, we have all of those are part of this catchment area but there are A few disorders like cystic fibrosis that they have 11 centers. They don't have three main centers. So it depends on the disorder, how it is referred from the state to you know the specific site that they've been referred to. Like I don't do don't do cf or um hypothyroidism. For example those sites, there are more sites. There's not only three. And when you get a referral for that, the state can provide this list. And also online you can look up what are the centers after Sanchez, we have a question slash comment in case. This isn't mentioned later in your presentation. Uh We have an attendee that says I have some patients of asian descent with issues with carnitine. I say that right? Carnitine carnitine on the newborn screen and there has been resistance to supplement the carnitine. And I also want to know if that is needed. Lifelong. Okay, so carnitine, we do identify carnitine optic deficiency or also known as systemic carnitine deficiency. It's one of those that is identified and called out on Saturdays because it can be um life threatening the the carnage. So we do not, we don't it is lifelong. Let's just the simple answer is if a baby is identified with having carnitine optic deficiency and we start them on carnitine, it is forever. However, at the beginning, when we were doing the confirmatory testing, which I'll talk about in a little bit about the process, We don't know if it's going to be carnitine uptick deficiency or if it's going to be uh secondary deficiency nutritional deficiency. Which can be a reflection of maternal carnitine deficiency. Mommy's a vegetarian, for example. So at first we do not know if it's going to be forever. But once we actually give them this like the diagnosis and say this is systemic deficiency, that means they're not, you know, they're unable to take that carnitine into the cells. So it kind of gets spilled out in the urine, they have to be on carnitine supplementation forever. That's the um that's my only thing I have I have not seen a lot of resistance with carnitine supplementation. But I do know that years back. I want to say in 2017, there was a publication that came out to talk about the long-term effects of having carnitine supplementation and how it can cause um coronary artery disease. So there was some push back at the time. And from practicing before that moment. And after that moment I want to say that we used to have carnitine and use it like Carnegie. No problem. But after that article came back we kind of held are um a little bit and said well do we need to be on carnitine for everything? So some of my patients with them cap need to be on carnitine and some of them do not. So we go by their labs and if it's significantly low that's when um I supplement if they are in the nutritional deficiency in the teens I don't feel strongly that we have to supplement. I hope I answered the question. Thank you. This is because I think it's important that you all know what happened before 2006 in the U. N. Florida. And what happens after what happened after. So before 2000 and six we used to identify PK you during a hyper hyperplasia. Hypothyroidism, galactose EMEA, the hemoglobin open these and hearing loss Which is performed in the hospital. So anyone that was born before 2006 in the state of Florida where they were not they were not screened for any of the other disorders. And this is something to think about because some of these disorders can have a late onset presentation. And so after 2006 we started adding a bunch of disorders. And that includes some of the Curia cycle disorders, some of the fatty acid oxidation disorders and organic acid India's. So it became a lot more comprehensive what we are doing with our patients with our babies. I think this is just because I wanted you to see how it progressed from when uh falling discovered p. K. U. in 1934. Then when Good three created the newborn screening in 1965. And how different disorders have been added like the galaxy mia and hypothyroidism in 78. The hemoglobin, nobody's in 88 Continue $20 during the hyperinflation 96. Um and and and so forth. And I may be um some of those is a little blurry for me because it's a little distant. I don't see the same thing as you are seeing uh recently, the most recent one was spinal muscular atrophy, which is um neuromuscular disorder that when I went to medical school and even my residency kids with type one, they didn't make it. So, the fact that we have something currently uh that we can offer to these families is mind blowing. I wanted to give the florida perspective again, those numbers are small for me. So I'm going to go by memory In general. We have um the state of Florida has about 200,000 births. And I took I went back to the Department of Health and I got the data to kind of compare to when I moved here in 2010 to currently. So I gave you some numbers. It looked tweets through you know throughout the years. But we're gonna like a rough 210, births a year. Also. I wanted to give you an idea of how many babies are identified by newborn screening. So the first it comes out and they have we typically get between 1200 and 1300 babies flag as they have an abnormal newborn screening. But that doesn't mean all of them have it. So if I remember correctly, about 424 423 um in 2020 had an abnormal we're actually not had an abnormal that actually were diagnosed with the condition. That means that about every like for every 500 babies that are born in the state of Florida, one of them has a condition that is identified by the newborn screening. That is a very powerful. Think about it. Every 500 babies there is one of them that has a condition that we identify that we should be able to treat if we identify them early on. There were other numbers there that I cannot remember or cannot read but it was hearing loss. Um also critical congenital heart defect Which is the post ox. So um I think hearing loss was was in the 400 or unknown 200 260 some and then the heart defect was about 26 of them in 2020 there's a positive predictive value and all of those numbers there we we are doing a good job but we have to do better. Why do we have to do better? We have to do better because when we call a uh pediatrician, a family medicine doctor and we say, hey your baby has an abnormal numerous screen. These are the lives that we need to obtain its and it turns out it's not real. You know, people get tired of that even and also parents like you are really getting a family uh even dynamics messed up because they just heard that the baby has something wrong with them and you have to poke the baby and then they start thinking that we're doing, you know, we've been told like, I don't want my baby to be a guinea pig or you know, this is really not research, we are just following clinical guidelines, but it feels to them like it is because they don't know why we're doing all these labs and why are we repeating labs. So we do have to do better. The only thing that we have to think about is we just, we don't want to miss someone that has a disorder but to the expense of what? So if we pick up everyone, if the sensitivity is amazing, that's great. But we, you know, it has to be specific to because you don't wanna you don't want to create that much uh negative sentiment. Um and in a family uh in many families just because you're trying to pick up one, so we have to get better at that. I wanted to show you what the process is for the newborn screening. And as I told you the newborn screening, um there's this this is the filter card that we've been using. It is sent to the lab. You are the babies. If they're born in the hospital setting, the filter card is sent to the state lab. And if there is a abnormal, like a borderline, the pediatrician is notified. Or if the baby is still in the hospital, the hospital is notified so that they can repeat a filter card. And then if there are two borderlines or one abnormal, then we get the referral, then we get involved. But for one borderline we don't know all infants. This is from the florida Department of Health guidelines, all infants must have a valid newborn screening specimen collected For the healthy babies at 24 hours of life. We should have it. If it's before 24 hours, we don't consider it valid because there are certain conditions that require your body to metabolize protein and certain fat, you know, for a longer period of time. So you need at least 24 hours for it to be a valid specimen. And at discharge, people get, you know, you get You either do it 24 hours or at discharge. But if um, if the baby is in the niCU, they tend to get more newborn screenings because they do it right when they're Admitted because they are worried that the baby may not make it. So we get a lot of newborn screenings from babies that are born in 22, 23, 24 weeks of life because they are there for a longer period of time. They're supposed to get on admission. But also then after 2048 hours to 72 hours of life and then Before discharge or 2020 days. Those are the guidelines And some people worry like, are we going to miss it? Are we going to miss a newborn screening? Well, we have a good, I think it's a pretty solid system. When a baby is identified by the state, by the state lab. They will pages, facts, email us colors. They want to make sure that we know. So um, we know we get, we get it and then you know, it looks like that. And sometimes the pediatrician also get this and the Nico gets this where it says alert. There is an abnormal liver screening. When I wanted to show you some examples because if the case is only mildly elevated, it doesn't need critical numbers. Then the specimen. There's another specimen is required and I have no idea. Sometimes I get people pediatricians in the community texts me or residents that have graduated um text me and asked me and I don't know the baby. They mean that means that I don't know them because they haven't really been referred yet. They just need anyone another filter card. And then I wanted to show you the example of um what it looks like. So they'll fax it over. They'll tell you what the baby is at risk and that repeat specimens should be properly collected. Then if there is an abnormality with that actually goes beyond their critical numbers, then the baby is automatically referred to us. So you you know you don't repeat a sample because that means that the level is so high that we have to proceed with complimentary testing. Yeah. There are guidelines. Sorry I'm going to go back. There are guidelines that we follow. We have the american College of Medical genetics guidelines and anyone can access them and I encourage you to kind of play around. There's also a actually an app that you can download. So you can look at the different metabolites. And if they are high or low and you can you can follow the algorithm of the testing that should be done. And it also has information that you can talk to your families about. If it's an abnormal newborn screening for galatasaray mia. It'll say what to watch out for is the baby john this is the baby eating. Okay. All these things that you're supposed to ask the family to know if the baby should go to the hospital or not? Dr Sanchez we had a couple of good questions come through. Yes, The 1st 1. So we have heard it must be 24 hours after feed. So is that not the case? That was the case before. But with the new technology, we don't have to wait 24 hour of feeds. Just 24 hours of life. And the same part. Sorry, same question is uh we recently had an infant debt prior to discharge with more than one metabolic disorder. There was a lot of talk about whether the baby had been feeding well and if that had played a part. So the question is more about the timing of specimen collection. Yes. Um I'm not sure exactly what the question is on that one. I will say that when a baby is, you know deceased, it's a tragedy and everybody that is involved, we are unable to, you know, it's hard what I can say sometimes if a baby has a near death experience some of the metabolic disorders like the pathways are altered because deliver is very important for some of the metabolites. So if they have like I like the hypoxic event um like significant, then we might see those very high and it's really it's impossible sometimes to decide if it's real or like what's what was what caused, what was it, was it a disorder that happened and cost the event or the other way around. So in a case like that, if you know, like sometimes what I will tell me on a pathologist is you know, hold sample and and and called genetics and maybe we could do more genetic testing rather than biochemical testing because at the moment the parents don't want to hear it. But six months later they will want to have another baby. And if we don't have a diagnosis, we cannot counsel them about what happened or why it happened. And really it happened again, thank you. And another question from Stephen LaRosa says hello from Tallahassee. I'm a family practitioner, doctor. Is there a system for home birth babies to get screamed babies that are born without seeing a doctor? Yes. The home births also on there. So on the website, the florida Department of Health website has the guidelines for home birth. I didn't add them here but they do have to do a newborn screening at when they first go see the pediatrician. So the first visit with the pediatrician Or seven days of life. But I have to revise if there's a tracking system because I don't remember if we can if we know that that's a great question and mhm. In our catchment area we have had, I will say the most common problem that I have faced in home birth is galactose EMEA but false positives and the reason is the actual enzyme is thermal level. So if the they hunt them the person that assists with the birth leaves the sample the filter cars sitting outside for too long. Sometimes it takes a few like even a week before they send them out to the state lab That can cause a false positive. And we can't tell because we don't know. So I mean we could say probably but we're not 100%. So we've encountered that with home births on you know those places where they are not like in the hospital where they send us the filter card overnight it and we get them right away. And one more question, Are you seeing any issues with infants being discharged before 24 hours by hospitals not having newborn screens or not coming back to get the screens done any statistics on those. I don't have statistics for those. I don't I don't know. I don't feel like I can comment on how many babies are born are discharged before 24 hours. Um I don't know that. I'm sorry. Okay thank you. Okay, great questions. These um was another way sometimes they put it in there like do not repeat like a repeat numerous training is not advised because what we have to understand is the screening lab is a screening lab meaning they take like I said 1000 samples and they want them through the spectrometer and they come out. So we have these flags and we say, okay well this is elevated. This is not elevated. But that doesn't mean it's an actual diagnostic way to to know. And that's one reason we don't consider the filter card diagnosed diagnosing tool. But also When they get the newborn screening done, let's say it was 24 hours of life or 48 hours of life. Some of the disorders are our best identified right after birth during that period of time where there is a lot of metabolism happening. And so if you repeat it a month later, the baby may not be may not show you their true colors. So you may need a better diagnostic tool, a better test, A better lab to do specifically for the disorder that you are concerned about. So no, do not repeat it. If the baby is referred immediately. That means there is confirmatory testing that should be done. What is the role of the pediatrician? There are many roles for a pediatrician. Um but one of the things to to to to think about is was it was a newborn screen collected? Are we concerned that the newborn screening wasn't collected if it wasn't collected? Talk about it. Was was there any parental refused because parents can refuse to the newborn screening? And sometimes they are adamant they don't want it. It's very low percentage of people that choose not to do the newborn screening. But if they but sometimes it's it's coming from England. They don't know what we are offering. You know, like if your baby happy to you and you don't do the screening, your baby can have intellectual disability just because you don't, you didn't choose, you know this very like a couple of drops blood and that's it. So there is a certain ignorance about what are we doing with that blood And no, we don't keep the blood. Um there was a big lawsuit years ago to the state of florida and I mean texas two because they were keeping the filter cars not for anything bad, but just like if we had to go back and look at the sample and see if it was good or not or or want it. They had it. Well that was completely destroyed and it's not used for anything other than the newborns training. What other things can the kind of pediatrician or what is the role the pediatrician we as a pediatrician, you should make sure that the that the newborn um that the newborn is um has like I said like has had the screen done. And if there is something else to do, I'm gonna actually, I'm going to use this one because this one I think it's better is to reassure family. So sometimes there may be a positive result. That doesn't mean that the baby is going to have the disorder and their families are completely beside themselves because they just the mom just had a baby and we call them. We don't know them. The our office doesn't know them. They're like why why is that? They're scientists calling? What is this office calling? But having a communication with the pediatrician, they know this is they chose you. They didn't choose me. They chose their pediatrician. And if you are there to reassure them and saying listen there will be more testing that doesn't mean that your baby has it. We just have to complete the protocol. Follow the guidelines and I'm here for you and communicate with me. I have pediatricians calling me asking you know are you worried about it? If I'm worried I'm going to send the baby to the hospital for sure. If I'm not that worried, I'm gonna be okay if you send them to quest or Labcorp and get those labs done. We don't we don't have to worry much about it. But there are certain things that I will be worried about and I will tell the pediatrician and the family that my recommendation is to head to the hospital because this is a life threatening condition that could decompensate in the next few hours to a few days. So reassuring the family. The other thing is to provide education. There is there are many families that get upset because the pediatrician doesn't know and they feel like the pediatrician doesn't know about the disorder. And this is on me. I reassure them that the pediatrician doesn't have to know about better kids until its efficiency or you know like any of these specific conditions because they are so rare that they'll see one in 5 10 years. So I reassure them. But what they need to know is that you are there for them that you will you will provide any education that they need and I will provide as well. So when they come back and they give me some feedback they're like oh my pediatrician didn't know that they took the time to look it up and and I feel that the pediatrician is on board with us like they are with us. So having that connection helps a lot with the families and then sometimes it's gonna be it's gonna be a chronic disorder. And so we have to work together um to design a plan for for life. Some of my patients require an emergency medicine matter which they take to the emergency room to to show to the er in case they are sick. Some of my patients have an emergency bracelet that we send them. Um And so and sometimes they'll call the pediatrician and then they call us and and they say oh well the pediatrician said you know they need to be on antibiotics. Someone like go for it. You know like we do not do primary care, we just focus on the particular condition and we are completely find it sometimes it's like is there a problem? Um Can we do this medication? Is will it affect in any way the particular condition? So we welcome any of those questions. The specific role from the department of health is to ensure that all infants in their care have a value newborn screening including the hearing. Also that happens in the birth burden facility. You also are supposed to obtain your newborn screening report and you can go online and obtain it if you didn't get it. The other thing is do not collect a repeat specimen if the first one was valid and it was normal, there's no need for that. But you should know if there is a satisfactory specimen or a borderline because you may need to collect the 2nd 2nd sample and then to provide this is key. Sometimes we are struggling because we don't know how to get a hold of the family. So if you know that the family moved away, if you know that someone is um it's under somebody else's scare, it's really important for us to know so we can continue the care to that baby. Um We had a patient that was put up for adoption and it was a weekend and it was so difficult to follow um where that baby was because nobody wanted to give us the information. And no you know not that I wanted to find the baby just we have to find the baby. So assisting the referral centers is part of the role of the pediatrician in florida and use the term newborn screening Not P. K. U. Test. A lot of the nurses. Um The old school nurses use P. K. U. Test. It is so confusing. We have some families calling crying saying my baby was saying with PK you and we are like no it's not okay you may be something else and maybe a macadam maybe um by opportunities, galactose EMEA. But the confusion that brings the PK you name it. It's sad. So we have to make sure that we use newborn screening and the goal is to diagnose and treat them in the first few weeks of life because some of them are completely disabling or even fatal. It is not a diagnostic test and I explained that. So um that doesn't mean that you have to to abnormal numerous screens you get at a confirmatory. Now you have to um if you think about a condition even if it was normal the newborn screening we still send testing because it could have been missed by the newborn screening. It could have been the newborn screening could have been done outside of the window that it was supposed to be done. There are many things that play a part. So if you do think about a disorder you should stand testing for it and then in summary it is a process and it requires a partnership between the primary care team the family and our the referral team that will be working with you to help manage the patient. Once the patient is diagnosed we are always um thinking how do we make it better? What do we what can we work as a team to make it better? Families should have access to the best treatment and care for their child. And so in our institution we're always thinking of how do we make it better for these families? Some of the questions that people should ask which disorders are identified by the newborn screening in your state. So remember if you move out of florida there's another set of rules so every state is different and the way they actually want, the newborn screen is different. What is the difference between screening and diagnostic results? The newborn screening is a screening test, it's not diagnostic. You still have to do complimentary testing. What is this what is the system for follow up of presumptive positive results. So when where wherever you are you should know. Okay well if I get on a normal numerous screen what should I do next? So read the report. If it's just referral immediately based on your where you were born, where the baby was born you should know what side you should refer to. If you haven't been contacted, you should have been contacted by that side before and how do you make referrals? So um based on the catchment area you can make but you can make a referral to any center and we do see people from north and we see people from the south and the same. Some of our patients go elsewhere. It all depends on the family and the family dynamics. So you're not really married to that catchment. We are in terms of closing a case with the state. But once we do, once we make that diagnosis, the family could choose um to be seen elsewhere. And even before they sometimes we have people that go somewhere else and they want to complete the work up. That's fine. We just need to know so we can close it with the state. We are a group of us death under the department of pediatrics. Although we see our patients from birth to adulthood, we see people that are Older in their 60s. Um so we don't we don't stop at 21. Our team, there are three newborn screening coordinators to are the main newborn screen coordinators are misty brown and Deana he drank and there are L. P. N. As they are the ones that are calling and Maria Gomez also on weekends. So sometimes you may get a phone call from one of them. It is um in the best interests of the patient that we find where the baby is and how we can get those confirmatory tests done. We also have uh there's four of us for providers. We have to metabolic dieticians because some of these disorders require specific diets, we don't change diets unless we have a confirmation of a diagnosis and we have our system. We have a social worker. We have four genetic counselors, genetic counseling assistance. And we have a group of clinical research nurses. I don't think we have time. I had a video but it's already 12 58. You can go online and google my life with PK. You. There's a 44 minutes version and it's a guy who has the K. U. And he talks about how lucky he is that he was born the year he was born and in the States and it led him to be so successful because of the newborn screening program. Thank you. Dr Sanchez, let's finish with one more question. You draw the line if you don't hear from a patient, what does that protocol? There are certain disorders that we cannot wait. We have to find them. And we have called the police on a patient. Not because you know we want to get them in trouble just because we want to have someone go to that house and find out that the baby is alive and doing okay. Um Typically we have about three days to find a patient if the disorder can handle it. But there are Yuria cycle disorders for example that a baby could be decompensating as we speak. And there are some organic Pasadena. So depending on the disorder and the actual critical values, we have guidelines. And we follow those. So we will call the pediatrician and the family. If we don't find them we will call the police. That's great. And there was one last question will finish with this before we close out. Are there any legal consequences on parents who refuse newborn screen? Oh um no if you refuse newborn screening unfortunately you no there are no legal legal consequences. I think there's another question to that. Also, are there any legal consequences if you have an abnormal number screen and you refuse to proceed? And the the answer? Um it's great. We we don't have anything in place to protect the baby right now. I mean these are all recommendations because they will save a baby's life. But I don't think there is any case where there has been any case in the state of florida that we can go back and say um that we were a that we would have to like to a parent or something but hopefully it won't happen. But it's a question. We I haven't encountered it. Great thank you. So let's close out. I just want to say thank you everyone for joining us and thank you dr Sanchez for your time this afternoon
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