Ms. Meredith Carlson Daly: Welcome to Milestones, a podcast featuring research and insights into child health and human development.
I am your host, Meredith Carlson Daly.
Our guest today is Jana Monaco, a mother of four children, who is here to share with us her experiences with newborn screening. As many of you know, newborn screening takes a few drops of blood from a newborn’s heel and analyzes it to detect and treat certain disorders before their symptoms arise. Two of Ms. Monaco’s children have the same rare metabolic disease, but they lead very different lives—because of newborn screening.
Ms. Monaco, a longtime patient advocate, who serves on multiple national boards and committees, was instrumental in helping to pass the Newborn Screening Saves Lives Act of 2008.
Here to tell us about her family’s experience, what she has learned, and how she has changed the course of knowledge for future generations, is Jana Monaco.
Ms. Monaco, thanks for speaking with us.
Ms. Jana Monaco: Thank you Meredith. It’s my pleasure.
Ms. Daly: So, can you rewind and take us back to that time when this whole journey began with newborn screening?
Ms. Monaco: I sure can. It’s an event and detail that once you’ve experienced it, you never really forget it. Stephen, just a little over 16 years ago, when he was 3 ½ years old, is when he was diagnosed with Isovaleric Acidemia. That diagnosis came the unfortunate way: because of the lack of newborn screening for his rare disease.
It was just a beautiful Spring morning in May, right after Memorial Day. I went into his room to see why he hadn’t woken up yet and unfortunately, I found him in a very scary state. He was unresponsive, kind of awake, but again unresponsive. His room had this unbelievable, unique odor about it that I didn’t understand. He would not respond to anything that I said. And so, I had to call 911. They came and assessed him and some of his symptoms prompted them to ask me if he was a diabetic, which I said ‘No.’ And, so he was taken to our local hospital via ambulance and they ran some routine tests that they do when they receive a patient in his condition. Everything was proving un-confirmatory with anything and so they told us that Stephen needed to be in a pediatric I.C.U. immediately and they had already arranged for transport. Once Stephen was transported to the nearest hospital with the pediatric I.C.U, the intensivist was there to receive him and based on the information that he had gathered from the other hospital, he was already telling us that there was something underlying other than a routine stomach virus. He then called in a geneticist, which was a little peculiar to us as well. And that just started the floodgate of what was really going on with Stephen.
Ms. Daly: How old was he at that time?
Ms. Monaco: He was 3 ½ years old. He appeared to be a typical, normal developing little boy and, medically, he seemed fine. He had one hospitalization when he was 18 months old, due to a stomach virus that his older brother had as well. That was a little red flag because as we looked back at that time, when the doctor sent for the report from that, his labs were identical. And, clearly, the Isovaleric Academia was showing itself then, but it was missed, just due to lack of awareness and knowledge about these conditions and other than that, he again, was developing normally. The only little signs that we had were he was a picky eater and actually that was Stephen self-selecting his own diet in avoiding the higher protein foods. Sometimes he had that little strange odor from his diaper, which, you know, you just think it's time to change a diaper.
Once he was transported to the next hospital, they did, the geneticists and intensivist ordered the lab work where they already mentioned an inborn-error metabolism and they explained it to us. They were able to eliminate some, but 24 hours later after couriering the lab work out to another facility, it came back conclusive to Isoveleric Academia, which is an organic acidemia and an inability to break down one of the amino acids, lysine. Unfortunately, by the time they got those test results, Stephen was now in a coma on life support.
Ms. Daly: How did it end up?
Ms. Monaco: Well, he was admitted to the hospital on a Wednesday. By Friday, when they had all the results, and as I said, Stephen was in a coma on life support, and he wasn't really expected to make it through the weekend. And they had told us that if he makes it through the weekend he's not going to be the same little boy that we once knew and loved. So, that was really difficult to absorb. And by that Monday, Stephen did survive the weekend, but another M.R.I. revealed extensive brain injury and, again, he was not expected to survive at that time. We began to discuss turning off life support. However, with a little bit more time and some signs that Stephen was showing, he came through that event; he woke up from the coma. However, it did leave Stephen with significant physical and intellectual disabilities and he has several complex medical issues.
Ms. Daly: So, it seems as though your hands were pretty full taking care of Stephen and your two oldest sons, Alex and Nicholas. What prompted you to become an advocate of expanded newborn screening?
Ms. Monaco: In the midst of a situation like that where as a parent you struggle with thinking ‘I did everything that I could to give this child a healthy start in life and do all the right things,’ between the other side of things with thinking, feeling you failed your child, that you as a parent should have known this. I should have picked up on these signs and symptoms. But, you know, you rationally come to the realization that these conditions are so rare and no one told you about them, so from there, when we looked at what we were going through, as a mother and being with my husband, we just said, ‘no child should ever have to go through this or a family.’ And as we learned more about his condition, we got our crash course in newborn screening and all of these disorders, we just decided, you know, we're going to do our part to ensure that people know Stephen and his story to help prevent this occurring again.
Ms. Daly: And then your efforts seemed to pay off, right, with the birth of Caroline.
Ms. Monaco: They did. And Caroline was a surprise in the midst of a very difficult, traumatic time for us. And she arrived a year later. And while I was expecting her, we knew, obviously, newborn screening for her was gonna be critical. But we even did an amniocentesis to diagnose her, to screen her early, and sure enough, it is a 25-percent chance for each pregnancy to have this condition because it's an autosomal recessive gene where both my husband and I are carriers and, sure enough, Caroline was that 25-percent chance again and but with that knowledge for her, we were able to prepare early for her arrival with my doctors and with the genetic specialists at Children's National, who were already caring for Stephen. And by doing so, Caroline had the proper treatment and management from the minute she was born and, so she was doing wonderfully after birth and had continued to do so and that just paved the way for us to take both children and use them to really make a case for why expanded newborn screening was so important for everyone.
Ms Daly: Kind of your perfect before and after picture?
Ms. Monaco: Exactly. At one point, we were labeled the poster family for newborn screening because we had two children with the same rare disease with two different outcomes. And it's very hard to argue when you present that before people who are in a position to make these legislative changes.
Ms. Daly: And what was it that you could do with Caroline because of the knowledge?
Ms. Monaco: With her, immediately, her diet was managed. She was placed on the amino acid supplements – glycine and l-carnitine -- that helped her body excrete the isovaleric acid that builds up in her body. The isovaleric acid is actually what is toxic to the body with somebody with Isovaleric Acidemia. And, so she was placed on a very controlled diet immediately and the medication and managed carefully and from there, you know, by doing that, she was really thriving in the way that she needed to be and has had very little medical complications.
Ms. Daly: So, Stephen is now almost 20, right?
Ms. Monaco: Yes, he turns 20 next month.
Ms. Daly: And Caroline is almost 15.
Ms. Monaco: Caroline, yup, she will turn 15 this month. And she just started high school last week.
Ms. Daly: What have you learned?
Ms. Monaco: A lot. I feel like I should have an honorary degree from somewhere in biochemical genetics and just life itself. I have learned sometimes there are situations with these conditions and in the medical field that kind of go and they’re put off to the side and not really recognized or valued for what they are and that the simplest tests can be life changing for everyone. I mean for Stephen it was a simple blood test that was actually done, but not utilized in the best way. He had newborn screaming, but he did not have the comprehensive newborn screening and, you know, it was cost effectiveness at the time and that was one of the arguments all along and it’s still an argument in newborn screening today in some ways. And that little test. testing for a few for more disorders would have made a world of difference for Stephen. But I've learned that you know knowledge and awareness are just critical for these medical conditions and can make a difference in the life of a child and Stephen and Caroline demonstrate that.
Ms. Daly: And what is his prognosis?
Ms. Monaco: We are preparing to celebrate his 20th birthday and his prognosis is one that's really undefined. I mean, we did not expect for him to have his 4th birthday, so to be able to celebrate his 20th birthday is/has been inconceivable for us up to this point. You know, he really has taught us that every day is a gift and that he and others affected have much to teach the medical profession. And he continues to do that and so with all Stephen’s complexities, we know, as I said, every day is a gift and we don't know what the future holds for Stephen.
We do know that he is turning 20 because of the phenomenal expertise of the specialists that care for him. You know it and he has quite a team of Children's National managing all of his help and, as I mentioned to you, he has a lot of medical complexities and together, each of those disciplines work together to keep Stephen healthy. One of the issues now is newborn screening has improved so much, babies are being screened. But now, we have to look beyond infancy and we have to look at the fact that these children are growing up and becoming adults and as much as we have learned about them in the younger year, there's that much that we don't know in the adult years of how these conditions affect these affected individuals, which is why I continue to stay involved and advocate, so that we ensure that the research continues to better understand these disorders and how to manage them throughout the lifespan.
Ms. Daly: You've sort of answered my last question, but I wondered, you know, what is the future of newborn screening?
Ms. Monaco: Newborn screening is always going to be evolving and changing. When I first got involved I thought all I needed to do was advocate to get our disorder, IVA, on the screenable panel of disorders and that was it, life would be good. And I quickly learned it was not so simple and that there were many layers to newborn screening and, you know, it just goes beyond the blood spot. It’s that education and awareness because when we have limited specialists, the biochemical geneticists who follow these individual, you know, we do not have an abundance of them and, therefore, we need to ensure that the rest of the medical profession that cares for these individuals has an understanding of them. So, education awareness never ends. There is the follow-up and the treatment and ensuring that that is equal in every single state because there are still glitches in newborn screening programs and the processes tend to look a little different. Also, there are other conditions that are still trying to be included in the recommended panel of screenable disorders. And, so, there is still work to be done on those to help them be included. And research is necessary for that and, again, more awareness and education and so it's getting better, it's definitely improved over the 16 years since we got entrenched in newborn screening.
And I am committed to just continuing my advocacy in Stephen’s honor to ensure that no one ever is complacent with their newborn screening program and process. Every time I am contacted by a newly affected family who calls and says `my baby was diagnosed with Icovaleric Acidemia;’ they are nervous, and they're scared. I assure them that they are receiving this diagnosis in the best way possible. I want them to understand and know that a normal life with these conditions is possible with the proper management and treatment. And when I do talk with these families, I don’t share Stephen's experience first, I share Caroline, so that they can have the reassurance and ease their fears. But then I do tell them about Stephen and the fact that he is a reminder of what can happen without the proper management and treatment. And I think Stephen is a constant reminder for even the professionals involved; they have to know that Stephen’s outcome is very real and possible for anyone affected.
Ms. Daly: Well, I’ve been speaking with Jana Monaco, a mother extraordinaire, a patient advocate and a passionate promoter of newborn screening. Thanks for joining another episode of Milestones. I’m your host, Meredith Carlson Daly.