CPF Spotlight | Arthrogryposis Clinic with Dr. Robert Rinaldi and Lydia Humphries

In this episode of Cumberland Conversations, we sit down with Dr. Robert Rinaldi and Lydia Humphries at Vanderbilt's Arthrogryposis Clinic to explore how their clinic helps children and families navigate diagnosis, treatment, and long-term care. 

Tune in to hear about Vanderbilt's Arthrogryposis Clinic. Interested in referring a patient? Refer at Vanderbilt's Health Connect at https://www.vanderbilthealth.com/healthcare-professionals/referring-providers or email Cumberland Pediatric Foundation to get connected at cpfnashville@gmail.com 

Don’t forget to subscribe to Cumberland Conversations so you never miss an episode!

Transcript

SPEAKER_02 0:00

Hey there, welcome to Cumberland Conversations. This is the place where we talk about the issues that matter most to you, your patients, and your community. We're diving into real conversations with real people, sharing insights you can actually use. Let's get the conversation started. Hey everybody, Rob Lillard, Medical Director of the Cumberland Pediatric Foundation, and welcome back to another episode of Cumberland Conversations, where we continue to spotlight some of our primary care and specialists here in Middle Tennessee and beyond. And today I am happy to be joined by the team, and I always mispronounce this, the Pediatric Arthur Gaposis Clinic at VUMC. And I'm joined today by Lydia Humphreys, who is the program manager, and Dr. Robert Rinaldi, who is, I guess, chair of program director for the director for the residency program and then leader of this clinic, I guess. Is that correct? All right, wonderful. So I want to learn a little bit about you both. I hear that Kentucky accent. So Lydia, we start to you. Tell me, tell me your background and how you got involved in the SFA interpill.

SPEAKER_01 1:03

Yeah, um, I am from Cades, Kentucky, so a small town in western Kentucky. Um, my background is in healthcare administration. I went to Murray State University for underrad and then University of Kentucky for my master's in healthcare administration, and then was there for a couple of years and came down to mineral carroll. So I am here as a program manager for multidisciplinary clinics and Arthur Agarposis being one of them.

SPEAKER_02 1:29

Wonderful. All right. And I'm sitting, I never thought I would do this. I'm sitting next to a unicorn, a literal unicorn, because uh y'all are hard to come by. Uh and this is, you know, your background. I I think as I mentioned to you, you had a little difficulty finding an exit ramp off I-35. So you went to undergrad at Iowa State, got on 35 South Mode School at Oklahoma, went back north to Kansas City, got lost there for a while, did a pediatric residency, correct? Couldn't find your way out of Kansas City, so stayed around and did PM and Right for three more years. And uh that's not the typical way you would get there. But tell me a little bit about what drew you into that and and and how you got there.

SPEAKER_03 2:09

Yeah, so I I went into general pediatrics thinking I was going to be a pediatric neurologist and rotated in a rehab rotation, my second year of my Gen Pete's residency. And it just really resonated. The whole idea behind rehab is increasing function in patients. Uh, we know we can't necessarily fix the underlying neurologic condition, but what we focus on is improving function and quality of life. And that really resonated with me. And it was my second year in that residency that I decided to go ahead and pursue pediatric rehab medicine. And that entailed a second residency in general rehab. Which is really interesting because I went literally went from one day finishing up my general pediatric residency the next day flipping over to inpatient adult units at the at KU medical. It's a tough switch, right? It was a big switch.

SPEAKER_02 2:56

Was there a particular, you know, I always ask, is there a particular patient or experience where that you mentioned there was something that flipped, but was there an experience or page that you recall and said, This is why I want to do this?

SPEAKER_03 3:05

Not really. I just think I was the whole gestalt of the month that I spent on re just really struck me is this is this is what medicine meant to me is taking care of people and making sure people went on to live full lives the best they could.

SPEAKER_02 3:18

Okay. Wonderful. And so once you finished all that training, uh, how did you find your way to Nashville? Where else have you been?

SPEAKER_03 3:26

Uh so I practiced in Kansas City at children's mercy for probably close to 20 years. Okay. Uh, had an opportunity to go to Dallas and start the division of pediatric rehab medicine to UT Southwestern. Uh so I took that opportunity, spent about eight years there, um, had an opportunity to come to Nashville, sort of the closing chapter of my career, I guess. Uh, my son was in college here at the time.

SPEAKER_02 3:47

Okay.

SPEAKER_03 3:48

And uh yeah, and we just decided to go ahead and relocate here and just uh it was a nice opportunity. I got to come back to do medical education, which is my first love. So it gave me the opportunity to do that by running a residency program at Vanderbilt. And uh here I am.

SPEAKER_02 4:01

So you've done a lot, obviously, with these foot, because again, kind of that unicorn theme, there's not a lot of you. How many practicing, maybe inside a pediatric PM and R, how many are there?

SPEAKER_03 4:11

Yeah, so there are about 380 to 390 pediatric rehabilitation medicine physicians, board certified physicians.

SPEAKER_02 4:19

Okay.

SPEAKER_03 4:19

Yep, so pretty rare.

SPEAKER_02 4:21

Awesome. Well, great work. And so let's talk for a second about this particular clinic, which is very new. Um, we're still kind of ramping up as I understand. Uh, and when we talk about orthogosis, still struggle with that. Uh, we're not talking about a particular condition. We're talking about more of a presentation that can be from many underlying conditions. Is that fair to say? Yeah. Yeah. Okay. So yeah, tell me a little bit about what you treat, what you see, and uh good candidates for the clinic.

SPEAKER_03 4:50

Yeah, so orthogriposis itself, as you mentioned, is really just sort of this catch-all phrase that has multiple diagnoses under it. Basically, to get the diagnosis or be classified as orthogriposis, we really only require a child being born with two, two or more congenital contractors. Okay. That's it. That fits the definition of orthogriposis. Now, within that, you've got a whole different subset of conditions that can cause that, whether it's underlying genetic conditions, underlying neurologic conditions. There are standalone conditions that have really no underlying genetic mutations associated, and they're just sporadic. Um, so there's a whole subset of different conditions that fit under that sort of umbrella of orthodriposis. Um again, it can be as little as two joints, it can be as many as, you know, five, six, seven, eight joints, major joints, small joints. Okay, so long as we've got those, you know, those two separate areas that have contractures can generally raise contractures that that fits.

SPEAKER_02 5:46

Okay. And do you find that most of your referrals then come from primary care doctors or maybe people ortho that is they've been referred to orthopedics for say a club foot or something like that, they find something else. What's the flow that you typically? Is it a little bit of both, I'll just say?

SPEAKER_01 5:59

Yeah, I would say both. I think um as we kind of things like this and more exposure, hoping that we get some straight from primary care physicians, um, because we do have orthopedic surgeons in our clinic. And so that's kind of the purpose of our clinic is to have one longer appointment seeing all these specialists that they would need to see in one time at one time. And so um, we're kind of getting a little bit of both, uh, some from the NICU as well. Uh so I would say most separate referrals, I guess.

SPEAKER_02 6:29

Okay. And where's the nearest center outside of Nashville? That that I mean, where would your catchment area be? Are you into Kentucky and Alabama and those areas?

SPEAKER_03 6:38

Or yeah, I think uh Cincinnati, um, children's has one, uh, Emory has one. I don't know if Lexington does.

unknown 6:46

Okay.

SPEAKER_02 6:46

Pretty layout area that you can can draw from.

SPEAKER_03 6:49

Yeah, our catchment area would be fairly large.

SPEAKER_02 6:51

Okay. What are the most common kind of you know, again, thinking I'm a primary care pediatrician, but what are the most common presentations? Of course, always think of club foot. What do you see as the most common joints that are tend to be affected?

SPEAKER_03 7:03

Yeah, so the most common presentation we know is a condition called amyloplasia. Uh, we don't really know the underlying cause of it. That these kids present with upper extremities, bilateral up extremity, internal rotation contractures, elbow extension contractures, and then wrist flexion contractures. Okay. Uh it probably accounts for maybe 30% of all our forgiven diagnoses.

SPEAKER_02 7:22

That doesn't sound like a subtle presentation.

SPEAKER_03 7:23

Yeah, but it's not subtle cow. Yeah. Yeah. It's pretty pronounced when you see it. It's one of those diagnoses, there it's one of those conditions when it walks in the door, he's like, okay, say myoplasia. It just really has a very scotch presentation. Um, but that that's probably the most common. And then then again, we see kids who come in with symmetric contractures of the elbows, uh, different joints, just for what it means.

SPEAKER_02 7:45

But again, two or more think that they would do it for this clinic. Okay. You mentioned multi-specialty, multidisciplinary. Uh, so obviously we've got Dr. Rinaldi, uh, orthopedics. You mentioned who else is involved in this?

SPEAKER_01 7:58

Yeah, we have uh two orthopedic surgeons, one that specializes in upper extremities and one that specializes in spine and lower extremities. Um, we have a plastic surgeon um in clinic. We have occupational therapy, physical therapy, of course, Dr. Rinaldi. Um, we're kind of looking to expand to see if we can get a genetic counselor um in clinic as well, just to have that full um grasp of everyone on the team. These clinic visits aren't um short, and that's for a reason. Yeah. Um these and families know that, and they um often tell us how grateful they are to just come to Nashville and beat the traffic for one day and sit in multiple appointments. And so they're typically about two hours, but can you beat the traffic in Nashville?

SPEAKER_02 8:44

Because we need the public in the same day. So it's okay.

SPEAKER_01 8:48

Yeah. So they uh they're usually there for about two hours, but they will see everyone on the team. Um, and if there's any physical therapy, occupational therapy, splinting, or anything like that, they can get that same day as well. So parents are really appreciative of having, you know, the clinic and being there for one clinic visit.

SPEAKER_02 9:07

Yeah. So tell me a little bit about, you know, when they come in and they have all that done, what's the typical follow-up? I mean, how much of this do they continue coming back to Nashville? Or is it something you coordinate with pediatricians or family practice providers in more rural areas of say East, West Tennessee, Kentucky, places like that?

SPEAKER_03 9:23

I think the preference is to have them come back to Clinic. Yeah. Uh for that again, that multidisciplinary assessment or interdisciplinary assessment. Um, that's the preference. Um, and again, that that that is the advantage for the folks living in rural, rural Tennessee or rural Kentucky, is they get that one-stop shopping. It's one visit, as Lydia said, they can avoid the traffic. It just makes life a little bit easier for them. Uh the other advantage than the interdisciplinary approach is that team decision making. Uh, these are incredibly complex kids uh where you you may be determining or talking about surgical interventions, you may be talking about occupational therapy intervention uh interventions, we may be talking about genetic diagnostic workups, and all that decision making can be made in the same clinic with the families present. Um so it's really advantageous for them to be part of the program.

SPEAKER_02 10:10

And is there then a kind of uh plan of care and that's communicated to the primary care doctor, or is OT or PT or things like that done in the community? Is that kind of related about what they'll need?

SPEAKER_01 10:21

Yeah, our especially our um occupational therapist and physical therapists are really good about being in contact with their local therapists back in their communities. Um and they'll usually come back um, especially in their first year of life or their first year that they've seen us in clinic every three months is kind of our cadence. And then um after that, about every six months to see us back in clinic. Um and then um for slinting needs or anything like that, if the local therapy isn't comfortable with that, we can always bring it back to clinic um for those needs as well.

SPEAKER_02 10:52

Yeah, great. So what is probably one of the most rewarding cases that you've had so far? And and maybe you have more experience, maybe you've released something further back, but what are the biggest rewards that come out of this? What have we seen?

SPEAKER_03 11:07

I think for me it's it's it's making, and I I can't think of a specific case, Rob, but I I think it's it's what I found over the years of working with these kids is it's just seeing them light up when they figure out a way to do something. You know, making things a little bit easier for them, whether they become independent in dressing, whether we can get them independent mobility through power wheelchair systems. It's just those things we kind of take for granted, right? Uh, because we're able to hide. But when you take a child with a disability and they become independent in something, it's just really rewarding. So to me, it's it's just the entire process of finding those things that make life a little bit easier for girls. It's really rewarding.

SPEAKER_02 11:44

Well, that's a good point. Because you're actually doing a lot of like orthotic devices or assistance devices and things like that, help these families too, and all that. I mean, do they basically come in and leave with one or no?

SPEAKER_03 11:56

They they don't get the equipment in the clinic, but we do make recommendations. And now they can go to the orthodist or they can go to the uh durable medical equipment clinic. And then that's where we prescribe those things.

SPEAKER_02 12:06

Well, that's fascinating. That's great. So tell me a little bit about getting a referral done, because I think that for a lot of us, we're like, that's a great clinic. Who do I call? What do I do? Um, do you have any information on that, Lydia?

SPEAKER_01 12:17

They can refer to us through the Bandt Health Connect system. It is a um external platform for non-BMC providers that they can send us a referral through that way.

SPEAKER_02 12:27

Okay. And that's for for a lot of you out there listening. If you're not familiar with Health Connect, uh, I mean, certainly a substance that the Vanderbilt system can set you up with. I think the easiest way, if you need information, email us at cpfnashville at gmail.com and we'll be happy to give you the information uh to get started with that. But you even go old school, right? You've got a fax.

SPEAKER_01 12:48

We have a fax now, for exactly, 1980s.

SPEAKER_02 12:51

I love it.

unknown 12:51

Go ahead.

SPEAKER_01 12:52

You can fax us the referral to 615-595-9275. Um, that will come directly to me, and I can uh set up the appointments for patients and families.

SPEAKER_02 13:03

Perfect. All right. Give me an idea of how long a patient might have to wait to get in. Right now, I know we're still in the early phases of this. Volume, you know, I imagine it'll easy.

SPEAKER_01 13:13

It's not a terribly long wait. We can usually get them in within the next month or two into the clinic.

SPEAKER_02 13:19

So perfect. All right, wonderful. Well, this sounds like an amazing service. Uh, and it's something obviously that we don't come across commonly, but you know, it can be very overwhelming as a pediatrician when you come across that thinking, what's my next step? So I think this is helpful for a lot of people to know they have that resource out there. And I appreciate y'all providing it. Um any parting comments or words of wisdom that you'd like to leave us with?

SPEAKER_03 13:45

No, I think, you know, I I think we're here to help. You know, any pediatricians that have concerns, questions about what they're seeing clinically, um, they're you know absolutely free to refer the kids to us. They can even call, you know, and ask questions too. Happy to answer phone counts or emails. Well, wonderful.

SPEAKER_02 14:02

Well, uh again, I'm happy to be surrounded by unicorn uh and this great uh service that y'all provide. So uh thank y'all so much for listening in. Hope you've learned something. Again, cpfnational at gmail.com. If you have any questions that we can forward for you or any information that you need about referrals to Vanderbilt, we're happy to assist. So until next time, everybody, take care.

SPEAKER_00 14:24

Thank you for joining Cumberland Conversations. We're proud to support the people who care for Tennessee's children. Don't forget to subscribe so you never miss an episode and stay connected with CPF for more tools, trainings, and community updates. Until next time, take care.