Importance of the ability to diagnose and manage rare pulmonary conditions

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Traci Gonzales, MSN, APRN, CPNP-PC, explains her session presented at the 2024 NAPNAP National Conference, highlighting the ability to diagnose and manage uncommon causes of chronic respiratory symptoms.

At the 45th National Association of Pediatric Nurse Practitioners (NAPNAP) National Conference on Pediatric Health Care, Traci Gonzales, MSN, APRN, CPNP-PC, pediatric nurse practitioner, Complex Care Clinic, Texas Children's Hospital, joined Contemporary Pediatrics to break down the session, "Sometimes it’s a Zebra! Identifying and Managing Uncommon Causes of Chronic Respiratory Symptoms for the Experienced Clinician," which was presented with Tomika Harris, DNP, APRN, CPNP-PC, nurse practitioner, McGovern Medical School at UTHealth.

Transcript:

Traci Gonzales, MSN, APRN, CPNP-PC:

I'm Traci Gonzalez, I'm a pediatric nurse practitioner at Texas Children's Hospital and I work in the Complex Care Clinic. I'm also a member of the special interest group for children and youth with special health care needs at NAPNAP, and am our local Houston Chapter's President Elect. Our presentation is really geared towards the NP that's kind of been in the game for a while. So we're looking for those who have some experience, but are kind of looking for those more unique and rare diagnosis. When we think of unique diagnosis, we often call them zebras in the medical world that may carry over to other facets too, but I know in medicine, we use that term and our saying is, if we hear hoofbeats we think horses, not zebras, probably 99% of the time, that's going to be the right answer. But you're going to run into that occasion where it's not the right answer, and you have to think zebra. This presentation is going to hopefully highlight some ideas of rare syndromes, but they're also prevalent enough that there's a really good chance you're going to see it at least once in your practice. So we just kind of really want to highlight how you find those what you do when you diagnose those and just to make sure that these kids are kind of receiving the best care they can.

Contemporary Pediatrics:

What are some examples of the rare diagnoses you discussed in your session, and what are some signs to look for?

Gonzales:

Different immunodeficiencies and with those of course with a chronic cough, we're looking for recurrent illnesses, pneumonias, ear infections, hospitalizations, skin infections, really any kind of infection. We're going to talk about primary ciliary dyskinesia and cystic fibrosis, which [with] both of those, children have problems eliminating mucus and getting mucus up out of the airways. So again, we see ear infections, we see a chronic cough, we see bronchiectasis. The other big one that I think is common enough that people will see it is an interstitial lung disease called NEHI, and that's neuroendocrine hyperplasia of infancy, and that one, it's unique in that children luckily do outgrow it but it causes some problems in infancy. It's definitely something that a PCP in an office could have a newborn come to them, and they could identify. With NEHI in particular, it's usually tachypnea, so these little guys or girls, they'll come in and they're breathing yet 70, 80,90 times [per] minute, which for a newborn we know is well above what they should be breathing. They often will aspirate, they can't eat because they are breathing so quickly, they just can't eat and breathe at the same time, might have failure to thrive. Again, they're working so hard to breathe, all their energy is going to breathing. So those are some of the key things for NEHI in particular, that would put me down that road to diagnosis.

Contemporary Pediatrics:

Why can it be difficult to diagnose some of these conditions?

Gonzales:

It can be incredibly hard because these syndromes all have overlapping characteristics, then they have unique characteristics, right? I don't know that there's one answer because they are so unique, but what I would do if I took away the 3 most important things, first would be just make sure you take a really good history. Knowing the history really can lead you in the right direction. If they have neurological symptoms, it's going to lead me 1 road, if they have infections is going to lead me another way. If they have sleep problems, I'm going this way. So a really good history really might direct your next steps. Two is, a lot of times they're going to come in, and we're going to treat that more common thing because I think that's going on, but when they come back, and it's not better, our treatment isn't working, go back and reassess. It might be that you have the right answer, we just need to tweak the treatment a little bit. Or, it might be that we need to kind of look deeper and consider more of those zebras. The third is it is 110% okay to ask for help or phone a friend, that sometimes these diagnoses are incredibly difficult to make. Reach out to a colleague, call a children's hospital, we have pulmonologist on call, we have complex care on call, we are happy to talk with you about your patient and kind of just lead you down other roads. These kids can be very difficult to diagnose. Their syndromes are very complex and so, sometimes the more minds you get on it, the better not only towards diagnosis, but the better outcome for the child as well.

Contemporary Pediatrics:

How important is early diagnosis for some of these rare syndromes, and what are the benefits of an early diagnosis?

Gonzales:

Incredibly important, especially for the ones that are going to cause recurrent infections in particular in the airways, because that can result in bronchiectasis, which is a permanent damage to the airway, which then increases their risk for more infections. Definitely the earlier we diagnose the better, which is why if you do have a kid who is coming in with symptoms, bring them back in 2 weeks because most of our treatments, we should be seeing some improvement by then. So if they're not improving, then we know we need to kind of look down other roads but I think that key component is really follow up and make sure what we're doing is working and if not we need to look elsewhere.

Contemporary Pediatrics:

Do you have anything to add regarding the NAPNAP conference and the benefits or opportunities it offers?

Gonzales:

This is truly one of the highlights of my professional career. I love coming to this conference every year. I work with children with medical complexity and we are a small but growing subset of pediatric healthcare. It's really nice that we get to come in from all over the country, we're all in one place and we can talk about what's working here and there and what's not working, and really collaborate and give new direction and improve care for these kids that we care so much for. When you're here, there's so much inspiration. There's so much experience all around you. It's a wonderful place. There's so many people that their love is pediatric medicine. Our goal is to improve care and it's just really great to be surrounded by that and I really just think we're lucky to be part of it.

For more NAPNAP coverage, click here.

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