Achondroplasia Explained: A Nurse Mom’s Roadmap For Hope And Care

A routine 32-week scan changed everything—then a nurse mom turned fear into a roadmap. We sit down with Victoria Garcia, RN and founder of Julia’s Advocacy, to unpack the biology of achondroplasia in plain language, the exact first steps for safer newborn care, and the practical systems that give families back their footing. From updated consensus guidelines to everyday hacks that clinicians don’t always mention, this is a clear-eyed guide to moving from shock to confidence.

We walk through the FGFR3 gene’s role, why most cases are spontaneous to average-height parents, and how to build a coordinated team—neurology, ENT, orthopedics, pediatrics, and PT—to monitor what matters without overreacting. Victoria shares two critical infant safety insights every caregiver should know: how a larger occiput can force the head forward in car seats and what a physician-approved shoulder-blade roll can do to protect the airway, plus how feeding patterns and growth velocity differ in achondroplasia infants so families avoid unnecessary NG tubes. These details save time, lower risk, and ease a parent’s mental load.

Beyond the clinic, we talk life: high-top shoes to support lax ankles, joyful play, and the misconceptions that still cling to dwarfism—particularly around intelligence and quality of life. Inclusion comes to life through small, concrete changes: flip-down stools at sinks, counters built for every body, accessible parking that’s honored, and language that respects identity. Victoria’s resource library and “quick tips” distill medical literature into steps parents can use today, while community connections bring hope and hard-won wisdom within reach.

If you’re a parent, clinician, or ally searching for evidence, empathy, and real-world tools, this conversation offers both compass and map. Subscribe, share with someone who needs it, and leave a review with your biggest takeaway so more families can find these resources.

Transcript

Welcome And Guest Intro

SPEAKER_03 0:00

Wow, you've done you've been busy. Yes, busy. Quite a bit. How do you balance all this? Advocating for all these different families while having your child. And being that she's three years old over those three years, and now she's going to be growing into a very active toddler as well.

What Achondroplasia Is

SPEAKER_00 0:19

Welcome to Posture and Purpose, where both healing and community come together. Make sure to subscribe on Apple, Spotify, and YouTube. Let's get into this episode with Dr. Michelle Car Frank.

SPEAKER_03 0:32

Hello. And on today's episode of Posture and Purpose, I have Miss Victoria Garcia, who is a registered nurse, but also the founder of Julia's Advocacy. She's here to tell us a little bit about what that is and how she's doing to shape a certain community. So welcome, Victoria. Thank you so much for being here. To begin, can you tell us a little bit about not only yourself as a registered nurse, but also your role as an advocate?

SPEAKER_01 1:02

Yes, well, I'm so honored to be here today. I'm so excited. I love that we're both wearing green because green is our community, achondroplasia awareness. Yes, I looked it up. Yes, it looked fabulous. Thank you. Yes, I am a mother to a daughter, Julia, who's three, living and thriving with achondroplasia. I've been a registered nurse for 13 years, it's going on 14 years, with a background in maternal postpartum care, neonatal care, and pediatrics. And with that, I kind of saw my career come full circle when my daughter Julia was born with achondroplasia. And over the last three years, we've focused on starting Joya's Advocacy, which is a platform for parents who have children with achondroplasia or have achondroplasia themselves. And they can reach out to our platform for resources and connect with other families. So it's really become global and it's been exciting these last two years, and we've helped a lot of families, and they've helped me as well.

SPEAKER_03 1:56

So what a wonderful, a wonderful reason behind your cause. But I can tell you most of our listeners do not know what a chondroplasia is. I'm very familiar with it because of my training with chiropractic. But can you explain what exactly achondroplasia is in a simple and compassionate way?

SPEAKER_01 2:15

Yes. Achondroplasia is the most common form of dwarfism. So even when we say it's the most common form, it's still incredibly rare. So one in 28,000 births is the newest estimate for the prevalence of achondroplasia. 80% of babies born with achondroplasia are born to two average height parents. So anybody is able to have a baby with achondroplasia. People don't know that. Yes, it's not a gene that either one of us carry. The remaining 20% of babies born with achondriplasia are born to parent or either both parents who have achondriplasia. So my husband and myself don't have any family history of ACON, but um yeah, it it's a single genetic mutation blip. It's just a little flip from G to A on the gene.

SPEAKER_03 3:02

So yeah, specifically, is it FGFR3? Is that the one?

SPEAKER_01 3:06

That's the gene, the FGFR3 gene. And um yeah, so it it's really, really rare occurrence, and we feel really blessed to have uh Julia with achondroplasia, and there are 721 different types of skeletal dysplasia. Half of those can have um fatality, but the other remaining half have you know certain complications that we monitor for. But Julia's doing really well.

SPEAKER_03 3:32

And like I said before, what a wonderful cause. And she's lucky to have you, that's for sure. And you mentioned that 80% of the cases would be considered spontaneous, right? Is that correct?

SPEAKER_01 3:43

Yes, they happen at conception, so there's no way to really predict whether a family will have a baby with achondriplasia. I think the latest that I read was somewhere in the range of 1% of every a chance of around 1% of a baby being born that way with achondriplasia.

SPEAKER_03 3:59

So rare. Can you share with us the moment you first learned about Julia's diagnosis? How did you feel at that moment? I mean, with your background in the medical field and just that feeling, can you would you be able to share that with us?

SPEAKER_01 4:13

Yes, when I first found out that something was not measuring within normal limits on the ultrasound was at 32 weeks. So I went in for a routine 32-week ultrasound on the scan. They found that all of her long bones were behind 1%. So it was really shocking and honestly very terrifying. I was terrified because you can't really determine on scan right away whether that is a fatal form of dysplasia or if it's something more moderate like achondroplasia. And so it started a lot of uncertainty. Um, we were in shock. We also had to wait four weeks with an amniocentesis to determine what the genetics were. Four weeks. Four weeks. And so we didn't find out for sure of the diagnosis of achondroplasia until she was until I was 30 weeks, 36 weeks. And then I had her at 37 and one. So it wasn't much time to process.

SPEAKER_03 5:08

Not a lot of mental preparation. And how did your emotions uh take place? I mean, you know, it had to have been like you use the word shocking, but how have they evolved over time?

SPEAKER_01 5:22

Right. So I was devastated at first because they were telling you all of the possible complications, which there are a wide range, it's kind of a spectrum. Um, they were preparing me for worst-case scenario, and that's a scary place to be when you're pregnant and hormonal, and you really baby's not in front of you, so you're really I had to lean a lot on the community and reach out to parents. But the hard part about that was I was doing that kind of on my own on the back end through social media.

SPEAKER_03 5:51

There wasn't really Really through social media.

SPEAKER_01 5:54

Yeah, there wasn't really a platform that I could go to and say, Hey, I need to speak to another mom. It was mainly through social media. So they were amazing and really helped me, and seeing other children thriving and doing well was giving me a lot of hope. But the wait for the four weeks of the diagnosis, that was really almost unbear unbearable.

SPEAKER_02 6:12

I can't imagine.

SPEAKER_01 6:13

Um, when they were measuring her on scan, her lungs were hypoplastic and they didn't, or they thought she would have hypoplastic lungs and chest was really small, weren't sure if she'd be trached. I mean, there's so many endless possibilities of complications. So we were pretty terrified. And to say how those have evolved over time is just seeing her, once she got here and you hold your baby and they're doing well, even the ones that have some complications, they still achondroplasia has so much hope for their future. And so that's really evolved into she's taught me, I think, more than I I've even learned through the achondroplasia. So, yes, it's I I really feel empowered with her now. She's I'm very proud of her. And I have we have an average height son, Grant, who's nine, who just loves her, and they're so fun to watch them together. So yeah, she's really a joy and a um a pride of mine now.

SPEAKER_03 7:05

So I love to hear that. Uh how old is she now? You said three? She's three and a half. Okay. And how did you all you mentioned your son, how did you all prepare as a family?

Birth, Early Fears, And Relief

SPEAKER_01 7:15

Yes. So once we were for sure, we didn't say anything until we were for sure. I had to wrap my mind around what was happening. And also, just to backtrack a little bit, this was the field I was working in at the time. So I was a postpartum nurse. And so your autonomy is a little bit stripped from you when your colleagues and best friends are the ones that are pretty much diagnosing you. It was a very surreal experience. So I'm walking into rooms that you're supposed to be the patient, but you still kind of feel like you're on the floor. And it was just a weird experience, honestly, and it was very jolting. So we got that under control when we knew for sure she had achondroplasia. Um, we just waited till baby was here. We let my son bond really well with her. We explained to family and friends that her bones would grow a little differently, and pretty much that we were going to be monitoring the things to monitor for. But um, yeah, she everybody loves her and she did so well that that was another thing I like to tell parents that the birthing process was very scary because there's a lot of knowns, and um, a lot of physicians aren't that aware of the protocols for achondroplasia. But Julia was born normal vaginal delivery, no epidural, no pain medication. Oh, and the reason I say that is because it's just to give a little insight of my my frame of mind. Because for Grant, I had an epidural, it dropped my blood pressure, his heart rate dropped, then he aspirated at birth and spent three days in the NICU. So then for Julia, they were so worried about that bell-shaped belly and the chest that I really put myself in this state of mind that I didn't want to do anything else to harm her. And I just had that baby and it was fine. And so I just told people that to encourage them a little bit, that honestly her delivery was even better than Grant's. So it can have really positive outcomes for delivery as well.

SPEAKER_03 9:07

And that's promising for people to hear. Yes. So I imagine your medical background as an RN, I'm sure that shaped part of this journey. You mentioned feeling like you were supposed to still be on that floor, but uh since you've processed this in the last three years, how has that journey changed?

SPEAKER_01 9:26

So I think I've really taken everything I've learned through the diagnostic process and all of my nursing background. And one way for me to cope is to just channel that into advocacy. So we've connected with I think 2,500 families globally that are either have achondroplasia themselves and living with achondriplasia or have children that have achondriplasia. So um, yeah, it's really been a cool experience, and it it really helps me whenever because I was I was in a process of a postpartum crisis with all that happening because this is a risk factor. And so helping to empower another mom kind of gives back to the autonomy that I felt was stripped. So it just to see it come full circle and to be on the other side of it, it's really amazing.

SPEAKER_03 10:13

Yes, for the other family as well. So, how have you have you seen like a strong co-management care among other health care providers? Or have you not seen a strong co-management of care? How are doctors trained? How are pediatricians specifically in this area trained to be ready for a patient?

SPEAKER_01 10:34

So we were really, really blessed because right when Julia was being born, there was a committee of, I think, 14 experts globally that got together and they wrote the International Consensus Statement for Achondroplasia. And I recommend that resource along with the AAP guidelines for achondroplasia that have been recently updated to every new parent and every physician that's taking on a patient. Because I do get a lot of physicians that reach out to through Joya's Advocacy. And um it really breaks down all of the protocols. They all got together and voted and discussed what is the best time frames, when do they need an MRI, who do they need to see, what kind of specialists, and it takes all the guesswork out of a physician just reading through if that's their first patient. So that's an amazing resource.

SPEAKER_02 11:19

Sure.

SPEAKER_01 11:19

And that's really made it, that's been a game changer for it. And Julia has, I think, eight or nine specialists. So they need to see a neurologist within the first three to four months to monitor for foramen magnum compression, and that is one of the most um common causes of a CIDS event in a baby with achondroplasia. So you want to make sure that foramen magnum is okay. They see orthopedics to monitor their bones, their spine. Um, and let me backtrack too, for achondroplasia, it affects mainly the long bones. So it affects the way the cartilage turns over into bone at their growth plate. So we're monitoring bowing in their long bones, um, their spine and the rib cage. Um they see an ENT because these bones, the ethmoids of their sinuses and the perpendicular plate of their nose is smaller. So they have apnea, yes, I saw that. Complication. And for their ears, because they're more at risk for ear infections. Um we see our pediatrician, we see a physical therapist, because the FGFR3 gene is expressed in the musculature as well in ways that we're not fully understood yet. So they are hypotonic, which is like floppy baby. So we have to watch that um musculature system as well. Yes, yes. So many different um a lot of monitoring in the first year of life.

SPEAKER_03 12:35

So this keeps you very busy. Yes. Are you still practicing as an RN, like in the hospital?

From Nurse To Advocate

SPEAKER_01 12:41

Um, I do more independent nurse consulting now for the community. But I've stepped away from bedside, I had to for the first year to to focus on Julia's care.

SPEAKER_03 12:49

Well, of course, yes. Yes. That comes first and foremost. Okay, so you mentioned the foramen magnum. Most of our listeners are not gonna know what that is. So the foramen magnum magnum is where the skull or the brain stem intersects with the spinal column. Exactly. So that area can become um, I don't want to use the word pinched, but straight.

SPEAKER_01 13:12

It is almost stenosis of pinching, it's the right at the base of the skull.

SPEAKER_03 13:16

Yeah, so just so you guys listening, um, that can be um very concerning for a parent or um a patient and a medical team trying to work around that. Yes. Okay, so how okay, with with that being said, has Julia been diagnosed with any spinal stenosis? Um, how often does she have MRIs done?

SPEAKER_01 13:38

So we had one baseline MRI when she was four months old, and that showed that her her foramen magnum was clear, so she didn't have compression.

SPEAKER_03 13:46

That's a blessing, yes.

SPEAKER_01 13:47

We do have many, many parents that do go through foramen magnum decompression surgery, and the infants do very well with it. So I know it's like a scary thing to hear. They have great physicians. If you need resources for that, reach out to us because I have great families I can connect um patients with. But yeah, so that frame, her foramen magnum was fine. She didn't have sometimes when you do have foramen magnum compression, it can cause a secondary hydrocephalus because it's causing a back pressure into those ventricles. So we didn't see any of that. Sometimes they'll need a shunt, but Joya didn't need any of that. We've had zero surgeries, we've been extremely blessed. We haven't even had um tonsils, adenoids. She's never had an ear infection, really. I mean, it's we've been very, very blessed. She's been extremely healthy.

SPEAKER_02 14:30

Yes.

SPEAKER_01 14:31

Um, sometimes they do need um other things with spinal or if they're having respiratory issues, sometimes they'll need traching, but we've never needed anything, so we've been very blessed.

SPEAKER_03 14:42

Yes, it sounds like it. So, what are some of the biggest misconceptions? We could probably talk about misconceptions with this all day long. But if you had to pick a few, what is the biggest misconception or one of them that you would love to correct today? Yes.

SPEAKER_01 14:56

So, one of the biggest misconceptions is that their quality of life will be poor. You may have complications related to achondroplasia, but most of them are manageable. Also, that intelligence is affected. So, generally, with achondroplasia, cognitive function is intact. There's not really an association with intelligence. So they live full lives. I know many that are doctors, um, lawyers, all kinds of dental hygienists, so many cool things, teachers, um, secretaries. So, yeah, they live full lives, they go on to have their own families, they can do everything anybody else can do. They just may need a little adaptation for it. So exactly.

SPEAKER_03 15:35

And what does the day-to-day life look like for her? Both the challenges day-to-day, or maybe the joys that you guys experience.

Guidelines, Specialists, And Early Monitoring

SPEAKER_01 15:43

Right. So for Julia, she's full of energy. I tell everybody, I honestly forget she has achondroplasia. And all kidding aside, like she's my easiest child, even with achondriplasia complications put aside. She's um strong, she's active, she's so smart, she talks all day long. I have no idea where she gets that from. I wonder. She's um communicates about everything. She plays, she's just such a light in our lives. Um, she's very easy. She's always been a great sleeper in everything. So day-to-day life. The only thing with her is just from a musculature system, sometimes her, she's more lax, you know, so you just have to be careful running. There's a lot of tripping, that kind of thing. So but we use um shoes that are high top to kind of keep her ankles in alignment, and that's about the extent for us for that.

SPEAKER_03 16:32

It kind of stabilizes. Yeah. So, and being that you started this, I can't imagine you have a little one at home, you have a child with a chondroplasia, and then you start this very successful advocacy program. How did that vision take shape? I know it started with Julia, but how had it, how has it progressed since then?

SPEAKER_01 16:54

I I will say that this all started specifically because I was reading on our forums parents going through the diagnostic process and being told a lot of misinformation or unclear information, and it really set me up for a very hard postpartum journey. And I just couldn't bear to watch parents experience that. And so we laugh in the community. I'm kind of known in the community lovingly now as Nurse Vic. And I don't know how that's just how they get me. They're like, hey, Nurse Vic. I'm like, hey, I know they're from the community if they call me that. So um this we call this the Akon Encyclopedia. It's full of all the latest research. Um, I bring it to all of my doctor's appointments. And anytime a parent reaches out to us, we have all of this in PDF formats that I can send them any part of the literature that they need. So yeah, I keep this thing updated and we connect with the community in that in that way. And I travel independently. My husband and I do that to all of the skeletal dysplasia conferences um in the United States. So there's two main ones right now that I go to every year and make sure I keep all the latest information, make a lot of connections that way.

SPEAKER_03 18:04

And you bring that all back to the families in Louisiana?

SPEAKER_01 18:06

Yes.

SPEAKER_03 18:07

Okay, so before you did this, there was no one in this area that did so?

SPEAKER_01 18:12

In the Louisiana area? Yeah. Not really. I mean, we had some social media groups that would get together and um, you know, meet up or that kind of thing. But we have two other advocacies. They are nonprofits that are doing really well with disseminating information, and then the LPA Association as well is a huge platform. But as far bringing all the things like treatment-related, um protocols, where to find physician in what areas, I even have like resources for that. Um, not really. I'm trying to get that together so we can disseminate information like that. Wow, you've done you've been busy.

SPEAKER_03 18:50

Yes, busy. Uh quite a bit. How do you balance all this? Advocating for all these different families while having your child and being that she's three years old over those three years, and now she's gonna be growing into uh a very active toddler as well. How does that uh uh affect her and her independence and her growth?

SPEAKER_01 19:14

Yeah, so I'm really blessed to be able to do this Monday through Friday, 8 to 12, in my office. I have a little just advocacy office. I connect with parents there if they need. Um I'm really blessed to be able to do it from home. And yeah, that's it, it leaves a lot of time for me to be with the kids in their afternoon programs or whatever they got going on because my son, as well, the sports fanatic, so we're always in something.

SPEAKER_03 19:35

Mr. Grant, yes, to see him the other days.

SPEAKER_01 19:37

Yes, and Julia's into all kinds of things too, art-wise, and wants to go play. So yeah, it gives us a lot of time to connect with them as well at home as a family.

SPEAKER_03 19:46

And how has it uh viewed your shape of viewing her strength and her resilience and motherhood as a whole? I'm sure resilience is, you know, you have to keep playing that back.

SPEAKER_01 19:59

It's a perfect term because I really had a hard time in the first year. You have to have a good, yeah, a good support system. And my mom and my husband, he was going through it as well. So she really just supported us and just keeping it.

SPEAKER_03 20:12

Your mom's great, by the way.

Daily Life, Misconceptions, And Milestones

SPEAKER_01 20:14

Yes, she's amazing, she's phenomenal. Keeping your trust in God and just knowing that she I let Julia lead the way. So we just let her do her thing, and if something's concerning, then we we face it. But for the most part, she's strong and doing great, and she she teaches me so much. I learned so much through her. Yes. I bet some resilience, yeah.

SPEAKER_03 20:35

Sure. And what has Julia's diagnosis taught you that no nursing or medical textbook could? You said she she teaches you every day what is something.

SPEAKER_01 20:46

I love that I'm sitting with a chiropractor for this because I use this analogy a lot, but about alignment. So I have to I had to realign my mind.

unknown 20:55

Yeah.

SPEAKER_01 20:56

It you you know, when you're in a healthcare profession, nursing, doctors, CNAs, you have this caregiver role that it becomes it part of our nature. And I realized that throughout my life, I was caregiving for a lot of people, and sometimes my own needs were put kind of on the back burner. Not always in my personal life, but just day-to-day. And when I had Joya, that became I had to realign myself with what are our priorities to get through this. Focused and really focused on a new mindset, and it gave me a backbone. And I just love that I'm sitting with a chiropractor for that because it really did. It made me really have to advocate for myself. So when you have to stand up and advocate for your child, you begin to advocate your own needs because that's it's a survival, a survival priority. Yes. But you don't stay there forever. And I tell everybody give yourself grace with achondriplasia for the first year or two, because that is the toughest, all the monitoring and all that, once you get all of that out the way testing, yes, it starts to slow down and you kind of feel human again.

SPEAKER_03 21:56

And when those days are very challenging. I'm sure there are dark days when you worry and it weighs on your mind about her future or changes that are coming in the near future. What gives you peace?

SPEAKER_01 22:12

What gives me peace is just trusting in God that this is gonna work out for us. And having a few key people in my corner that I can call. Other dads, my mom, people in the community, uh also adults living with achondroplasia, speaking to them. How did your mom handle this when you were a child? Because I want to hear their lived experience as well. So important. I have some great friends in the community that um share, they're very open about their experiences, and it's such a blessing to me and my journey with Julia as well.

SPEAKER_03 22:43

How many people in the Lafayette area in Acadiana um have a chondroplasia?

SPEAKER_01 22:48

I I know of about four children, maybe five, that have a chondroplasia. And in the surrounding areas, I know upwards of like in like Louisiana in general.

SPEAKER_03 22:58

Yeah.

SPEAKER_01 22:58

Mainly New Orleans and and this way, maybe about 20 adults that I know of in the general area.

SPEAKER_03 23:04

And you know them all personally, I'm sure.

SPEAKER_01 23:06

I I know we we meet, I know the children's moms real well and the children in our area because we connect a lot. But yeah, we I know I I don't know. I have just so many people that I know now, and I I know way more people with achondroplation than I know people who don't have achondroplation now. Oh no, that's funny.

SPEAKER_03 23:23

You're in the right place. Yes, in the right place. I keep saying it, but they're so lucky to have you. Oh, thank you. Are there any treatments that are available today? And if there are, can you talk about those or share some thoughts on those?

Building Julia’s Advocacy And Resources

SPEAKER_01 23:36

Yeah, so treatment-wise, historically with achondriplasia was always um like a monitoring or a supportive care, bracing for Boeing, um, bracing for spine, high top shoes, things from a PT standpoint. But more recently there have been some emerging therapies medication-wise, that um can address some of the biological or underlying issues with achondriplasia. So that's really exciting because a lot of those companies have begun to focus and dive deep into some of the research that we have been missing too. So that's really been an interesting thing to search.

SPEAKER_03 24:12

Yeah, yeah. So important for sure. And in our local healthcare community in this area, in Acadiana, how do you feel like providers support families or what type of support do they provide clinically but also emotionally?

SPEAKER_01 24:28

Yes, so that's the that's the million-dollar question. We have some physicians that Joya sees are amazing. They're so willing to learn. So most of them, this is their first patient with achondriplasia, or they've had one or two in the past with achondroplasia. Um, I think her neurologist out of Children's New Orleans has had a handful of patients with achondriplasia. So um just their willingness to learn. My pediatrician sat down in an hour-long appointment, Dr. Doug Gonzalez, he's phenomenal. Where is he located? He's pals group, right behind Lafayette General. Okay, so local. Yes, local. And he sat down with me and read through all this information with me and just soaked it up, and we collaborate on all her things, and he's just amazing.

SPEAKER_03 25:09

He's probably learning from you.

SPEAKER_01 25:10

Yes, we learn, we really, we really, that's what he says. He says he learns as we go, and that's that's all you can, that's all I ask for, is that we're just open to researching everything. Yes. And then um, yeah, from an emotional standpoint, that is the hard part. It's really hard to find emotional support postpartum-wise that's covered by insurance if you need that in the immediate postpartum care. So, yeah, there's some there's some areas we still have to work on, but to find that's why I want to do that community connection. Because I really find that when I reach out to a mom who's recently diagnosed, and I'm like, look, here's photos of Joya, here's what we're doing, this is what we're this is what it looked like, this is what my delivery looked like, it really can instill a lot of hope. And I know that when I posted on those groups, and I was like, this is what they're saying, I was flood my inbox was flooded with other parents. This is my child, this is and it just really got me through. Me and my husband, Edward, and I both, and it just makes a big difference.

SPEAKER_03 26:04

Yeah, that you have that support system, you can feel that support, even though it may not be right there in the room with you, but even elsewhere. So and so talking about the community and healthcare in the community, what role does the community as a whole play? Not just healthcare, but with healing and supporting a family like yours? Are there support groups specifically in Lafayette, or do you guys have to find other places like New Orleans or Bat Rouge to go to?

SPEAKER_01 26:30

Right. We have the couple of moms that we have in Lafayette. We do get together, go to dinner, bring our kids together every once in a while. But there's Little Cajuns that's um are one of the groups Little Cajuns. And what's really good is that the LPA is their conference in New Orleans this year. So that'll be an amazing event. The nationwide? The nationwide conference will be in New Orleans. So we're gonna have our little Cajuns all at um in New Orleans. There are most of them are hubbed around there anyway. So yeah, we we try as best we can to support each other, and that's well, it sounds like y'all are doing a great job.

SPEAKER_03 27:04

So that's wonderful. And we you did talk about your uh collaboration with new parents, but to be very real about it. What is the conversation that you have when you first speak to a new parent who knows that this is the diagnosis that they've just received? Just beginning that journey.

Local Community And Provider Collaboration

SPEAKER_01 27:24

So I tell them to take a deep breath that I'm gonna send them over a slew of resources and information and to read everything. Read it and know the condition for yourself as best you can because you're in shock. So just read the highlights. I have a highlighted, we call it nurse fix quick tips, and I send them like what to know in the immediate postpartum, what to know for my MRI, what to know for my first ENT visit. So we have these Nurse Fix Quick Tips flyers that we That is wonderful. We try to summarize the medical jargon into easy to read format for parents. So yeah, just learn the information as best you can, be prepared to advocate for your child. And we're always in your back corner. Like they can call me. I even give them my number, like call me anytime in your appointment if something doesn't feel right. That is um so wonderful.

SPEAKER_03 28:13

I hate to say I'm proud of you because I shouldn't say it, but I'm so proud because I've known I've known you know your family um over the years now. So um it's wonderful wonderful to see and watch what you're doing. So thank you. And for friends or family members, you know, we've all heard of a chondroplasia, main, maybe not necessarily that word, but dwarfism, little people. How can people support you? That lives their lives aren't necessarily affected by this, but they really genuinely want to support and be there for you. How can they actually help?

SPEAKER_01 28:44

Yes, this is I'm so passionate about this topic because when I was first being diagnosed, like I said, I had that postpartum crisis, and you're not able to show up the same way in the world for people, and sometimes those relationships kind of struggle in that first year to two years of life. You're not able to show up in the same ways, maybe. And I would say friends that you know, sometimes I would get one of the misconceptions to go back to that, oh, well, she'll just be short. And I'm like, Yes, being short is an aspect of it, but they did we're not aware of all the complications that are associated with achondriplasia or can be. And I had one friend who just joined all the support groups on social media. She wanted to learn, she was reading things on her own. Just having somebody willing to do that. I mean, it almost makes me want to cry when I think about it because you're you're so overwhelmed, and then just showing up with meals without having to be asked. What's her name? Can you say her name? I'll leave she knows exactly what she's gonna be. She knows she is.

SPEAKER_03 29:42

Well, she sounds like a wonderful friend.

SPEAKER_01 29:44

Yes, and my pastor, April as well. So they all just rallied around me in that way, and that was really important for me.

SPEAKER_03 29:51

That means more than anything. So and what does inclusion look like for you and Julia and and and as a family, and either I know she's only three, but either at daycare, schools, the playground, everyday life.

SPEAKER_01 30:05

Yes. So what I really didn't even realize till I had a child with achondriplasia is that just going into a bathroom in a public place that doesn't have a stool, just trying to open a door that is too high, that's a heavy latch that we don't think about these things. No, so the inclusion aspect of this is so important and something that needs to be highlighted. Um, just having the stools in the bathrooms that flip down where you can wash your hands, that's amazing for our family. Just having that to where I'm not trying to hold Joya. I've been to counters where I'm trying to pay a bill and the counter's this high on me, and I'm like, you wouldn't even see a person with achondroplasia behind that counter. Um backing up cars, you don't think about that, but sometimes they're below where you could see when you're backing up. So um sometimes I hear they receive pushback for getting um a handicapped parking spot, and it's really important for people with achondroplasia. And there was pushback? Yes, and parking lots. So just things like that. I think our communities um are trying to bring that awareness forward about the needs of that community.

SPEAKER_03 31:01

Yes, okay. Now you're getting me excited about it. What are your hopes? I know for any mother of any child. Um we have hopes, we have dreams um for our little ones, but for you and knowing the challenges that she'll face or that she is facing, what are your dreams for her?

SPEAKER_01 31:21

My dreams and my hope is that Julia in the future can advocate for herself, that she feels comfortable in her own skin, that she can, you know, discuss some of these misconceptions in a matter-of-fact way without feeling really defined by sometimes what the world says and it's not not the truth. Um, that she goes on to lead a successful, happy life, that she's happy, that's my biggest hope.

SPEAKER_02 31:47

Sure.

Supporting Newly Diagnosed Parents

SPEAKER_01 31:47

Um, that she's pain-free, that's my goal. Because there are there's a lot of pain um sometimes associated with some of the spinal things with achondroplasia. Um, yeah, and one of the the things I didn't touch base on though is that the M word, which if you don't know what the M word is, you can Google it. I'll never say it. Um it's a very derogatory term, and I don't think a lot of people are aware that that term is derogatory. So I just use opportunities like this to spread that kind of awareness. So yeah, things like that. I just don't want her to be defined by terms. I want her to be known as Julia, and that's you know, people that live with a contraplasia or dwarfism, they want to be addressed by their name. That's Julia, and she happens to live with a chondroplasia.

SPEAKER_03 32:28

So Right that's well, I think um there's no doubt that she will certainly have that type of future with a mom like you. I don't think so. Um so if Julia listens to this episode one day, what do you hope that she will either learn or take away about your story or about her story or herself?

SPEAKER_01 32:50

That she can do anything, whatever you want to do, no matter how hard life gets, um, no matter how scary it is, you can do anything. You can um, and really it all works out for us. So just to trust in God and do what you want to do, and you will be successful.

SPEAKER_03 33:06

Yes, face those challenges. Yes. So my last question is usually how do you maintain your posture while pursuing your purpose in life?

Inclusion, Accessibility, And Language

SPEAKER_01 33:15

I think that goes back to just really being aligned with my frame of mind of stand up for yourself and advocate for yourself and process things. Take the time and have those boundaries to tell people I need to process this because I was met with a lot of judgment sometimes about how I was processing joyous diagnosis, especially because postpartum crisis is not well understood. So just put those boundaries if you have to and process everything you need to process, but try not to stay there. Um, know that it gets easier with time, and just have your people in your corner. Those people in your corner will will they'll drag you up if you if you need to be. Thank goodness good to lean on. Oh my. And before, I forgot to mention this, but um, there's two really important um things I want to touch about for life-threatening signs for achondriplasia. So one of them would be um I don't know if they can see this on camera, but this is a photo of Julia blowing bubbles. Uh-huh. Okay. That is called foaming in a flex position. So with achondroplasia, they have a large occiput. So when you put them in the car seat study, they need a car seat study right away at birth, but when you put them in the car seat, their occiput wants to push their head forward, and then they have low muscle tone, so they can't maintain an airway. So they do a stertuous breath sound, which kind of sounds like and it froths up their secretions and it can lead to cardiac arrest. So when you see a baby foaming and they're in a flex position, so laying on their back, any of those things that push the occiput forward, it's considered a medical emergency. And unfortunately, one of the misconceptions with that is to put a neck roll. A lot of pediatricians or the hospitals say put a neck roll. But really, with achondroplasia, you need a shoulder blade roll so that it gives room for the occiput to fall back. Because if you put a neck roll, it's just gonna push the occiput further forward. And this is just a little wrist rest I got off of Amazon for the computer. But we did the car seat study with it behind her shoulder blades, and it works better than a rolled-up towel because it holds its shape, it's firm, but has the beads that um but you have to if you have to get this approved by your physician and it has to be tested in a car seat study. So that's one of the most important things. If you see foaming in a flex position, please, please let your pediatrician know. There's an amazing article. Um, they can reach out to our website, www.shartlongbones.com. And um, I have that article pinned. And then the second one would be that because they're low muscle tone, feeding complications are common in the achondroplasia infant. They have a bell-shaped abdomen, meaning their chest is small, the belly's bigger. That does a back pressure on the abdomen. So when you're feeding them, they can't take as many ounces at so they take less ounces sometimes more frequently. And sometimes that can be flagged as fail a failure to thrive, even though they're not failure to thrive. It's not a traditional failure to thrive, because achondroplasia babies' weight will be a um they're two-thirds of what an average hype baby's weight will be at a year old. So there's a there's a weight gain velocity in infants with achondroplasia article that if a physician feels the baby's not gaining weight appropriately, they can do a calculation on grams per day that an achondriplasia baby should be gaining. So that's one of the misconceptions. A lot of them will get NG tubes unnecessarily because they assume the baby's not feeding well or not gaining weight appropriately, but they actually are for achondroplasia. So two great articles that can be found on our website to prevent some uh some of those care.

SPEAKER_03 36:49

I mean so much wonderful information and necessary information. You mentioned your website, but if there's someone listening or a family member of someone that needs this information, how can they find you? Would your website be the best form of communication there?

SPEAKER_01 37:05

Yes, they can go to www.sharlongbones.com and it has an area where they can message me. So anything they have questions about, um our resources are on there. They can also find me all over social media. If you just join any of the dwarfism pages, achondroplasia pages, and you just search Victoria Garcia, it'll pull me up in all my all my discussions in there. Um, I'm also on the picnic health website, which is a research-based platform for achondroplasia, and they have some articles with me in there as well about care for acons.

SPEAKER_03 37:35

So I think we're gonna be hearing a lot about you and your group and your um advocacy support for years to come. So thank you. Thank you for everything you're doing for this community and for your research, your time, and the heart that you're putting into this. Thank you. And thank you for being here today.

SPEAKER_01 37:53

Oh, this is wonderful. I could talk about acondriplasia forever. That's great.

SPEAKER_03 37:57

Yeah, great. So until next time, sit up straight, stay happy, stay healthy, and stay adjusted.

SPEAKER_00 38:03

Thanks for listening to the Posture and Purpose Podcast with Dr. Michelle Car Frank. Make sure to subscribe on YouTube, Spotify, and Apple Podcasts. Until next time.