Nora is unstoppable. Her determined and ambitious spirit is housed in a body affected by the most common form of dwarfism, achondroplasia. Her mother Emily shares all about the obstacles that Nora has overcome in her two years of life, and her confidence that she will continue to overcome throughout her life.
In this episode, we also talk about the lack of knowledge about rare diagnoses and the power in connecting with other parents in the achondroplasia community via social media.
Emily is a special education teacher residing in central Massachusetts with her husband, Nora, and 9-year-old son Nate.
Madeline Cheney 0:35
Emily, thank you so much for sharing your heart today.
Thank you for having me.
Madeline Cheney 0:39
Yeah, of course. So if you could start out by just telling us about your daughter Nora, what is she like?
Nora is amazing. So she's two years old. Um, we found out at about 26 weeks that she was going to possibly have a form of dwarfism called achondroplasia. Her ultrasounds were measuring--her long bones were measuring far behind average height babies. So that was kind of a shock to us. In the beginning she was very healthy in all the tests that she had. Everything else was going well. They just kept an eye on her growth. So that's kind of what led us down that path to start.
Madeline Cheney 1:31
Yeah, that was all before she was born right while you were pregnant with her?
Yes. So 26 weeks pregnant, as when we found out that we may start this journey with her when she was born.
Madeline Cheney 1:43
What were your initial feelings? What was that like to be told that things weren't typical with your baby?
Yeah, we were completely shocked. I was actually by myself at that appointment when we found out so I was really taken aback. I wasn't quite sure what to make of it. I'm pretty sure I just kind of ignored it at first. And then ended up doing a lot of research on my own, which was scary. And didn't turn up very many positive stories, and kind of led me and my husband to do a lot more research and we probably should have stayed off the internet for a while. But in the end, it turned out wonderful. We were scared for no real reason. I mean, she came out healthy and happy. And she's just like a typical two year old right now. Just small.
Madeline Cheney 2:44
Yeah. So tell me about Nora, her whole personality. I know she has a lot of it.
She is very sassy. A little bit bossy. And super strong. She does things that we never imagined that she would do. Both personality wise and just physically. Things that we didn't expect her to do far beyond the time that she met those milestones. We were told that we should expect a lot of delays physically and things like that. But she, she did everything way before we thought she would. She's really smart. She is social. She loves her big brother. She loves kids. She's very happy. She's pretty awesome.
Madeline Cheney 3:32
That's amazing. And you mentioned too, that she's really talkative, right? Like she talks really well.
Yes, she understands everything we say to her. We have to be very careful what we say.
Madeline Cheney 3:44
That's really cute. So you mentioned that you were told to expect delays physically so what does that look like? Typically for achondroplasia.
So most babies and toddlers like Nora, don't meet them (physical milestones like sitting up walking) until a little bit later, usually about six months past or more what the typical average height toddler would do. So she started walking at 18 months, but we were told to expect over two years before she would probably walk independently. Most kids like her start sitting up on their own at about a year old. So it's a little bit delayed from the typical developing infant or toddler. We also aren't--you're not supposed to sit her up in any sort of equipment or anything like that. So she had to lay flat for most of her infant life until she could get to be sitting up on her own. We weren't supposed to put her in that position just because of her head proportion and her tendency to have spinal issues. So we had to wait for her to be strong enough to just pull herself up into sitting position so that was kind of hard. She spent a lot of time laying down for the first year of her life.
Madeline Cheney 5:06
So when you say spinal issues, what do you mean by that? Like what kind of spinal issues?
So kind of like, kids can get scoliosis. Kids like Nora with achondroplasia can get something called kyphosis, which is a different kind of curve in the spine. And it can lead to problems down the road. If it gets severe enough. Some some kids have to have surgeries or braces and Nora wore a back brace for about 10 months until she was strong enough to hold herself straight.
Madeline Cheney 5:41
Does the brace kind of keep it--keep her spine from curving? Is that what it does?
Yeah, it keeps her nice and straight so that she it kind of pushes the spine into the right position for her so that it wouldn't continue to curve and cause any damage to her back.
Madeline Cheney 5:57
That's really interesting. So Kimball has another form of dwarfism, another, you know, diagnosis under the umbrella of skeletal dysplasia. I almost wonder if we should have like if he should have had something like that because it's so rare that like, we don't have a lot of research. We haven't even seen an orthopedic--
orthopedic specialist. Yeah, that was one of Nora's team members from the start. But it is hard when you have a rare diagnosis. Even our orthopedic specialist wasn't quite sure if she should have the brace or not. And we ended up trying it because it wasn't going to harm her to have it. If we didn't do it, we may be harming her spine. So we ended up using it for a while until she was strong enough. And she kind of fixed it herself--Her body kind of fixed it herself after a while, but some kids don't get strong enough quickly. The curve can end up getting pretty severe. But once they start walking, and they're more mobile and straight, sometimes it will just straighten on its own with some core strength and mobility. So that's kind of what--where it went with Nora.
Madeline Cheney 7:05
Okay. What was that like, for the first 10 months?
It was hard because we started wearing it right after she started sitting up independently and started being more mobile. So it kind of set her back because her flexibility and her mobility was impacted by the brace. So it kind of slowed her down, she regressed a little bit until she could kind of overcome the stiffness of the brace and be able to to move herself better.
Madeline Cheney 7:34
What was she doing at that point when she first got the brace like gross motor wise?
Yes, so she had just started sitting up and she was doing an army crawl. Kids with achondroplasia don't usually crawl the typical way. They do more of an army crawl so kind of like on their elbows and drag their feet kind of behind them. Because of their shorter limbs, they can't really get on their hands and knees the same way. So sometimes they adapt. So there's the army crawl or the snowplow where they kind of use their head to get around a little bit. There's a few different methods that they, they kind of figure out the best way for them to get around. So she was super fast. And that army crawl--She didn't need to walk, but she could get around really fast doing that. But the brace did slow her down a little bit, because it was just it was really awkward in just trying to figure it out for her.
Madeline Cheney 8:28
Yeah, what was that like? What did it--was it her whole torso or?
Yeah, so his hips to armpits.
Madeline Cheney 8:35
Yeah. So that's where she needed that flexibility to kind of wiggle around when she was army crawling. So the crawling kind of came to a halt for a little bit. Until she could figure out better ways to do it. And then she started standing up because I think it became easier to just stand up and cruise than crawl with the brace on. So she kind of figured out--she was standing up before she was actually sitting.
Madeline Cheney 9:01
Yeah, she would pull herself up and then plop back. That's how she taught herself how to sit. It's kind of cool to watch.
Madeline Cheney 9:09
Yeah, she's an overcomer. She's figuring it out, huh? Adapting...that's amazing. So what was that like to get to be cleared of the brace or when they told you that she didn't have to wear anymore? What was that like?
It was such a relief. It was such a relief for all of us because it was hard to watch her struggle with it, even though we knew that it could help her down the road. And if we didn't use it, things could get worse. But when she had that X ray, and they just said that she didn't need anymore, she's strong enough. She's fixing it herself. It was a huge relief. And then after that, she just took off, she started standing more and walking with holding our hands and then by 18 months she was walking independently. Which was way before we thought we would see that happen.
Madeline Cheney 9:59
Yeah, it was great.
Madeline Cheney 10:02
So did she she pretty much cleared for her spine--like, will she have follow ups for her spine still?
Yeah, we have to see them every six months, unless something more urgent comes up, we would see them more often, but she'll have X rays and consults with them every six months, probably for most of her childhood. And then it's something that a lot of people with achondroplasia see an orthopedic specialist regularly because of all the kind of the structural differences in their bones and so the way their bones grow, can cause other things like the her legs, like bowing can be another thing her curves in her legs, they have hip problems, sometimes back problems, pain management kind of issues. So she'll probably see an orthopedic for her life.
Madeline Cheney 10:54
Okay, what else--do you have any kind of idea of what her life might look look like in comparison to, you know, I don't know a typical child?
Yeah. From what I've learned from other adults that we've met through Little People of America and some friends of ours there, they are just like every other person. They might have like I talked about some of the pain or the the bone issues down the road, but they can live a very happy, healthy life just like anyone and any one of us. They can have some complications. Sleep apnea is one thing that's really common sinus issues, ear infections, things like that. That can affect some people. Not all but it's pretty common. Nora has some of that now, so we'll have to wait and see if she grows out of any of it. As she gets older, but she can do anything anyone else can do, she just needs to figure it out in her way, given her size, because she'll always be much, much smaller than the average person.
Madeline Cheney 11:08
So it sounds like she's already learning how to do that, right? Like with the forms of crawling and learning how to sit up like, she's figuring that out.
Yeah, she has a stool. She carries stools around all over the house, puts it somewhere she wants to get something. Yeah, she's, she's pretty good. She figures it out.
Madeline Cheney 12:28
She's resourceful. That's amazing. So tell me about Nate, her older brother and their relationship because I just love hearing about it.
They are each other's favorite person. Like when they're in the room together with all of us. It's like, me and my husband kind of disappear. They love each other from the start. Even when she was brand new, newborn, she would just look at him like no one else. She follows him around all the time. She wants to do everything he does. And he's really good about not babying her, given her size. I mean, she's only two so he babies are to a point but not related to her size really. He feels she can do anything and she's strong and she's smart, and she doesn't need a lot of help and that kind of stuff.
Madeline Cheney 13:32
Yeah, they're pretty close, especially being stuck at home for a month. It could go many ways, but they honestly aren't sick of each other at all. They're loving it.
Madeline Cheney 13:47
Do you think that they will miss it in a way like when it when they go back to normal life?
I do. I definitely think they'll both miss it but I think Nora will definitely miss having Nate around. They've a lot of fun together even with a giant age gap too. And he can understand a lot about about her, so that's helpful, because he's older.
Madeline Cheney 14:14
Oh, that's amazing. So I guess we'll talk more about Nate too it in our second episode, in our special topic episode to talk a lot more about him too. Um, so I'm going to back up a little bit. When Nora was first born. What was life like? Did she go to the NICU? How was that?
She did not go to the NICU. She was kind of in like the baby Wellness Center with some close eyes on her but nothing that she needed super monitoring for. The first couple days were really overwhelming. There was doctors in and out constantly x rays testing, blood tests, all kinds of people just poking and measuring and because they still, it hadn't been confirmed, but it was you know, we were pretty sure that she had achondroplasia. There was a possibility that she might have had hypochondroplasia, which is very similar to achondroplasia. So they were doing a lot of measuring and just kind of poking at her. And so it was really hard for me because I just wanted to be with my daughter, but at the same time, I knew that they were just taking care of her. So it was a little bit crazy, the first few days in the hospital. But at the same time, I was really thankful that they were, you know, keeping an close eye on her and try and help us figure everything out.
Madeline Cheney 15:52
Yeah. How long did it take you to get genetic testing back to know for sure--like confirmed that she had achondroplasia?
For ever, forever and ever, it felt like forever. I believe it was about five months from the time she was born. So we kind of kind of always knew, but we got the real confirmation about five months later.
Madeline Cheney 16:16
Yeah. Okay. Can you tell me a little bit about what the alternative hydro...? What was the other...?
Madeline Cheney 16:23
Okay, what would that have looked like?
So it's very similar. Some of the features can be a little bit milder and sometimes we were told that sometimes they could have cognitive delays along with it. Which is not common with achondroplasia at all. So they're very, very similar. I don't know all the genetics about it, but I'm pretty sure the genes that are mutated are pretty similar. When it when it happens, so.
Madeline Cheney 16:55
Okay, yeah, interesting. How has Nora's diagnosis affected your family as a whole and the dynamics?
It's...at first, it was pretty stressful. There was a lot of appointments like weekly, it was crazy. So that was hard, especially having my son to who sometimes would have to come with us, depending on the timing of it and it was it was pretty tricky at first, we didn't know a lot. So every appointment, we would start learning more and more information. So it became more and more overwhelming. And it felt like every time we left an appointment, we left with three new appointments, or we didn't often leave with great news, except for that she was healthy, which was, of course, all we really wanted. But, you know, we'd go from the geneticists to the ENT to the orthopedic surgeon, and then early intervention started and it was just a lot at first. It's starting to slow down a bit, now that she's a little bit bigger. And even just holding her the right way, using the right equipment with her. It was also unknown to us that we were just learning as we were going so we were, you know, for a while I was afraid to hold her the wrong way like I didn't want to hurt her back or her spine or her neck. So it was a little bit nerve wracking. And I kind of feel like sometimes we were robbed a little bit of the newborn stage just because we were worried so much. We're definitely more relaxed now about it, even with appointments and specialists and things like that. It's a little bit easier to process it now that we've been doing it for two years compared to the first few months or so.
Madeline Cheney 19:34
How do appointments work? So I know you're a teacher. So how does that--how do you guys work that out? Having appointments? I mean, I can't even imagine, I'm home with him all day and that keeps me busy. How do you do that?
I'm extremely lucky to work at the most supportive school ever. I think being a special education teacher, working at a special education school is helpful because they can understand that, you know, there's a lot that goes into it. They've been super flexible and really understanding. My husband and I sometimes will both have to take a day to drive into Boston to go to Boston Children's. It's an all day affair. I also only work three days a week, so I can be home two days with her. And we try and schedule most of our appointments on those days that I'm home with her. So my work has been very flexible around that.
Madeline Cheney 20:36
That's good. How have you-- So what about with your therapists?
So we use--She started early intervention at about two and a half months actually, which seems really early. Because they're not doing much no matter if they have achondroplasia or just a typical newborn--
Madeline Cheney 21:11
Sleeping and eating and sleeping and eating....
Yeah. But it was recommended to just get into the system so that when we did meet them, she would already be there. And she automatically qualified because of her diagnosis. So we would see them--It started off with once a week. And then at some points, it was twice a week and then we went to once a month, we've kind of bounced back and forth. Right now actually, she's only on a check in basis. So we're not receiving any specific OT, speech, physical therapy right now, because she's met all of the milestones, but she still qualifies. So we didn't want to lose our spot in case something came up down the road. So we've kind of had a break for the past few months, as far as therapies go,
Madeline Cheney 22:02
Okay, yeah. What has your relationship with your therapy with her therapist been like, and her doctors too like, just with her medical team? Has that evolved at all since the beginning? Like how do you feel confident with them?
Yeah, it's so we've switched a couple doctors at the beginning,
Madeline Cheney 22:23
Intentionally switched to them or...?
Intentionally. I wasn't happy with a couple. Most of her team I absolutely love and they take great care of her. And because they're all at Boston Children's except for one, the communication between all of them is easy, because they're all in the same system. So everyone knows her and knows her story and knows her case. What's hard about having a child with a rare diagnosis is that even the specialists of the specialists don't always know what to do in certain situations. So we actually switched our orthopedic specialist from someone that specialized in skeletal dysplasias to someone that didn't, because although she was a specialist, she didn't really individualize Nora's care. So she kind of had Nora under this umbrella. And I had concerns that were not being addressed because it wasn't really related to what she thought specifically for her diagnosis. So we ended up seeing someone else outside of that team, but everyone else has been pretty, pretty great. Sometimes I'm still the expert walking into an appointment, though. And sometimes I have to get a second or a third opinion within her team about certain treatments or things that we're looking into because they're not sure. Which can sometimes be scary. And a daunting task to be the one that has to know all of it. And make those decisions because I'm not a doctor. But sometimes I have more information than they do based on kind of our outside network of friends that we've made and in social media and groups and things that other parents are learning as they go. With kids that might be a little bit older than Nora, their experiences of things that they've gone through have kind of helped me with questions to ask doctors and things like that.
Madeline Cheney 24:40
Yeah, yeah. I feel like social media is like heaven sent for rare kiddos because I've had that experience to where I can get on the Facebook page and be like, Guys, do they have vision issues? And they're like They totally do and I'm like, that's not in the literature, but I'm glad you can bring it up. You know, we're like conducting our own little research.
You Yeah, it's happened so many times so many times. And then I'll bring it to the doctor. And you know, they'll be like, Oh, well, let's look into this something they hadn't thought of before.
Madeline Cheney 25:11
Yeah, that is so awesome. And I do I agree with you. I totally I hadn't thought of it that way. But it's like you are the--You are the head of the medical team, which is true for I think, I don't know, I think the parent is always kind of the head of the medical team with any diagnosis, but especially with rare things, because a lot of doctors have never heard of it, or they were trained specifically on that in there. They were looking at the same research you have access to, you know. Oh, and also as a side note, with skeletal dysplasias I was told that there are seven over 7000 different kinds of skeletal dysplasias. Right?
There's, there's a lot there's definitely a lot yeah.
Madeline Cheney 25:50
So a doctor who specializes in skeletal dysplasias. I mean, that means she knows about out the umbrella of 7000 different kinds, so that's not going to be very individualized.
Right and some are so much more rare than others. So Nora's is the most common type of skeletal dysplasia but it's still rare. So not every doctor has come across a lot of cases similar to Nora.
Madeline Cheney 26:20
Yeah. Yeah, totally so interesting. What about he like what about therapists and early intervention therapists that have come to your home, especially when they were coming more frequently? What is your relationship with them? Or what has it been?
I love them. They--so for the first one Norris, when she was a baby, it was easy because she just kind of laid there and they would give me some suggestions since there were certain things we weren't supposed to do with her. And a lot of doctors will not recommend having any ot or PT. For kids with achondoplasia because they feel like the therapist moves force the child to do things their, their skeletal system is not ready for or their skeletal system can't do just because of the way they're physically made. So that was another opportunity for me to be the teacher. So I had to let them know what her specialists said as far as how far we can push Nora and what we should do with her that's not going to harm her in any way. And the two therapists that came to my home did have a little bit of experience with people with achondroplasia. So they weren't completely-- It wasn't completely out of their expertise, I guess. So we kind of work together and just kind of let Nora do her thing. And the OT would give suggestions of how we could help her progress without pushing her. So kind of working where she was at, but maybe using tools that we had around the house to kind of help her. So if she wasn't, she was rolling over, but we couldn't help her set up. What can we do to help her build core strength so that she could sit up on her own sooner. So maybe exercises or using a folded up towel under her during tummy time just to lift her a little bit more things like that just small things that we could do to help her that weren't gonna push her in any harmful way. And then we did have a language developmental specialist for a little while, but Nora is so social and so communicative, that it didn't really last very long. But it was just something that they had offered us so we gave it a try, but we didn't really need it. And then PT has been thrown around but like I said, it wasn't recommended. So we kind of held off and she, she actually never ended up needing it. So we didn't we didn't go through with physical therapy at this time. It could be something down the road that she could need.
Madeline Cheney 29:19
Okay, yeah. Well Emily, I would love to end with just your last thoughts of, of Nora, like how you as her mother, what you think of her and, and your belief in her.
She-- I use the word amazing all the time. But she just she really is. I feel like every day she's doing something to amaze me. She is from the start has shown me that her diagnosis of achondroplasia is not gonna not gonna stop her. She's gonna figure it out. She's gonna be fine. Because that's, I think my biggest worry for her is her future and, and how hard and challenging it might be. But she shows us every day that she can do it. She's strong.
Madeline Cheney 30:18
That's awesome. Well, thank you so much for sharing about your experience with Nora as being her mother.