131 - Catch Your Breath and Look Around: Meet Ellie

This month, we're featuring Ellie, a four-year-old from Litchfield, New Hampshire. She loves school, music, dancing,and, yes, horseback riding! Ellie has been diagnosed with a very rare condition called Rubinstein-Taybi syndrome.

There's too much to cover about her diagnosis in a brief format, so we will let Taylor, Ellie's mother, explain it in more detail.We're incredibly grateful to Taylor for allowing us into their lives and sharing Ellie's story – from the early stages of the diagnosis to her personality and her relationship with her two-year-old brother.

You may not get to meet Ellie in person,but you'll fall in love with her just by hearing about her.

Episode Transcript

(00:08):
Welcome to the Go Shout Love podcast. My name is Seth Carnell. Each
month we feature a family who hasa kiddo on a rare medical journey through
pictures and videos that are blasted onsocial media, sharing with the world who
this kid is and their impact onthose around them. We also take the
time to hear their story from thepeople that know them best, their parents,

(00:29):
and that's what this podcast is.This month, we are featuring Ellie
from Litchfield, New Hampshire. Sheis four years old and loves school,
music, dancing, and yes,horseback riding. She is diagnosed with RHOBTB
two syndrome, which is extremely rareand there is too much in her diagnosis

(00:51):
for me to cover briefly, soI will let Taylor handle that. Taylor
is Ellie's mother and she is whowe are talking with today. We are
very grateful to her to allow usinto her home, into their lives,
and to share with us everything Elliefrom the beginning to now, from the
early stages of her diagnosis to herpersonality to her relationship with her two year

(01:15):
old brother. You may not getto meet her in person, but you
will fall in love hearing all abouther. Leading this conversation is Josh feach
Our, executive director of Go ShoutLove. Shouting love is what we are
all about, and yes that includesour uniquely designed monthly t shirt to support
Ellie, but that also means sharingher story and this podcast. So please

(01:38):
take a second, give us somefeedback, and share this podcast with someone
you know. All right, well, Taylor, welcome to the Go Shout
Love Podcast. Thanks for being withme today. Thank you for having me,
of course, and we are inMay and it is all month long
we get to shout love for yourprecious daughter, Ellie. And so before

(02:01):
we get into summer her story,I'd love for you just to introduce us
to your family and who makes upyour family? Sure, so myself,
I'm Mom, I'm Taylor. Myhusband is Joquen. That would be Ellie's
dad. And then we have Elliewho is four and a half and her
brother Ben, who will be twoat the end of June. And we

(02:23):
cannot forget about our first child,our chocolate lab, Mollie. Awesome.
And so Molly then is older thanfour and a half. Yes, Molly
is eleven, okay, all right, our dog she had a lot of
years family child. Yeah, ourfamily's dog just turned fifteen. I had

(02:43):
this moment of like, oh mygosh, like this dog is seen so
much of our life. Yes,and it's it's weird because now we're at
the age where it's like, okay, fifteen is getting a little wird and
don't want to think about. No, it's weird how that's become part of
the family exactly. She's the onewho proposed to me. She came running
up to me with a ring clipto her caller as a puppy. So
that's awesome. Yeah, she's seenus through. Yeah, all of that.

(03:07):
That's awesome. That's so great.So Taylor and Joaquin, Ellie's four
and a half and Ben is one, he'll be two in June. Yes,
and then Molly's the oldest, Yes, and has seen it all.
Yeah, that's awesome. That's great. Tell us a little bit about your
family, Like what you guys liketo do for fun? What does a

(03:27):
day a fun day in your family'shouse look like a fun day in the
house. I mean it depends.So Ellie does get to go to preschool.
She goes Monday through Thursday mornings,which doesn't sound like fun to some
people. But she absolutely she knowswhen school is coming. She can tell.
She sees her backpack at the door, Like as soon as breakfast she

(03:49):
starts signing all done breakfast, likeno matter when she actually doesn't even really
eat breakfast anymore because she's so excited. She gets on the little bus that
comes right up to the end ofthe driveway. She waves right to her
bus drivers, Maria and Michelle,and she gets on the bus and she
goes to preschool. And I meanthat's just like a weekday, fun day
for her. And she comes home. Usually we play outside for a little

(04:13):
bit if it's you know, theweather's getting nicer, so we'll just run
around the yard, you know,throw rocks, throw dirt. She just
follows her brother around and he's justthat's what he does, so she does
it too. Have lunch come in, Ben goes for a nap, and
then this is probably her favorite partof the day, when he's down for
his nap and she stop napping,so she just gets to snuggle who's ever

(04:36):
with her, whether it's me orDad or my mom watches them when I
work, So we snuggle up andwe watch a Disney movie. So and
then the evening time, we maybewe'll go back out and play, or
we'll just play around the house.So that's just like a typical day in
the life. And then you know, bath in bed. But some funs,

(04:59):
I mean, everything is fun toher. Tomorrow on Fridays, she
just started, like a month ormaybe about two months ago, she goes
and rides a horse, so Imean she knows she we talk about the
horse, she starts getting up aroundthe house. I mean, so that's
and it's therapy. She doesn't knowthat though, Like it's just fun for

(05:19):
her. So she's having fun.She's having it's not realizing she's working really
hard. Actually, yeah, andit's a lot of hard work on her.
But so she does that and thenit just depends on like last week
she had school vacation. We wentto the zoo for a day. We
have annual zoo passes, so wedo try to do that quite a bit

(05:44):
actually. And then actually, youknow, we my father in law came
to visit and he's from out oftown, so he ended up just getting
a hotel room so that we coulduse the pool because you know, yeah,
we love to swim, so thoseare fun things that we do.
You know, go to a lotof playgrounds. We yeah, On Saturday,

(06:05):
her horse therapy place is hosting likean iron it's called Ironstone Farm and
they're having a Derby day for theKentucky Derby. So it's like a whole
event that helps go to the horsesthat she rides, and it's gonna be
a family event. So you know, we're trying to do Yeah, I
know, I thought of that.Actually she will not leave one on,

(06:26):
but I'm like, I know,yes, so we just yeah, it
just depends on you know. Welove to go to the children's museums.
We try to make it a typicalyou know, typical typical life. Yeah.
Absolutely, Well, tell us alittle bit about Ellie's personality. What
makes her tick. Ellie is verysilly. She's very very happy, very

(06:53):
happy. If she's like fussing orcrying or something's wrong, you're like,
oh my goodness, like something's reallywrong, because she just everything makes her
happy, Everything makes her laugh.I mean, she just even they were
telling me today in school. Soshe has been using We're not sure fully

(07:13):
how much she like really gets it, but she does use an aac like
I gaze device, and she seemsto really be catching on and trying to
communicate through there. But I meanthey said she was sitting in circle time
today and I mean they were justthe teacher was talking maybe like I think
about the weather, which was likenot a funny topic, and she just
loves to look at her like she'slike the class clown. She looks at

(07:36):
her device and looks at it.It says ha ha ha, And she
looked at it and then she startslaughing like she's just funny and she knows
that that's funny, and she,you know, she runs around. She
just kind of screeches and shakes herarms around. I mean that's how you
know, you know, I meanshe does. She's gonna keep that up

(07:58):
at school and get herself a littlebit. I know they were telling me
that today and then she had abig smile as they're telling me, like,
yes, I did that. Ibasically interrupted the class just to make
a joke, you know, onmy talker. But obviously it's even funnier
because it's like it's the aac's voiceand you know, not her voice,
and just but then the fact thatshe laughed doing it. Yeah, So

(08:22):
yeah, she just I mean,she gets excited. You just you know,
you drive somewhere, you open thecar door and you just see her
looking around like what, you know, what are we doing? Where are
we going? Yeah, she's verycurious. Yeah, she's like today,
you know, today she stopped andpicked up like just the smallest little thing
off the ground and she's just investigatingit. And it's just really neat because

(08:43):
for the very longest time, Imean, she really explored everything with her
mouth, so we had to bereally careful. But more and more lately
she's realizing that like, you know, I can use my eyes, I
can use my hands, I don'tneed to test it. So we're able
to give her a little bit morefreedom to explore. And it's just it's
just neat to see her kind ofyou know, really just starting to really

(09:07):
run. And Yeah, I thinkher brother Ben has really helped her kind
of in that sense of watching himexplore the world. She watches him and
just has really changed in the lastyear or so of how she goes about,
you know, everything. Yeah,awesome, So tell us about Ben.
What's his personality? Ben is?He's the boss? He really is

(09:30):
the boss. Ben is Yeah,almost two and really founding his voice and
has very strong opinions. You knowthis from the second year awake. You
know. Go, he tells youwhat he wants to eat. He drags
your hand to the pantry, eventhough he has full capability of getting it
himself. But he wants you andthen sit, Mama, sit, Mama

(09:52):
sit. He wants you to sitwith him. Sit here, do this,
do that, mama go you knowknow like that very loudly, just
a rough like just all boy,just water dirt rocks, just wants to
well, just like throw sand foran hour. I mean, he's just
so funny. But on the flipside of it, it's very interesting.

(10:13):
And I just don't know if he'sjust like he's very he's very smart,
he's very he watches everything. AndI don't know if he just sees how
we treat Ellie because we don't.We never like I mean, he's too
young to really understand it from ourperspective. But he is so gentle with
her for being so rough in hiseveryday life. I mean he just comes

(10:37):
up, like just see it,and he sees us brushing her teeth.
He comes over, he wants tobrush her teeth, he brushes her hair.
I mean, the other day hecame up behind her. She was
like eating a snack and he kindof like cut the back of her head
and like brought the drink of watersomething up to her mouth, like just
like it's really really neat to see. And like if she does cry,

(11:01):
he gets very concerned. Elbow sadlow, He calls her elbow. That's his
elbow, and elbow said, elbowsad, Oh, elbow, elbow sleeping,
Like, oh, elbow, doyou need to go take a nap
if you're sad? Like just hereally he really takes care of her and
really is just just so very youknow. I mean they have their moments,

(11:26):
if like, but but for themost part, he just treats her
like this little you know, personality, and then there's this nurturing element.
Yes exactly exactly into elbow mode.Yes, yes, he just really you
know, treats her like this little, this little doll, and like even

(11:46):
though you know she's the big sister. He really, at such a young
age has just been so yeah,nurturing and comforting to her, and just
he just loves her. I meanit's mutual, but he is just like
and even like I actually had sharedthis like an Instagram thing recently, like

(12:07):
you know, we just I justhave to run into Low's. I'm like,
I want to run into Low's.I need to grab something really quick.
And you know, he I makethe mistake open the car doors.
Oh they have like the gender lawnmarsout front and tractor tractor sit, Mama
sit. I'm like, oh mygosh, okay, this is gonna be
a little bit of a more ofa trip. But I did. I

(12:28):
let on my okay, go ahead, sit there. I put her in
the cart and that wasn't good enoughfor no Mama Elbows it Elbows wanted to
make sure she got to sit too, and I so you know, he
wants her to be involved in everything. Ye, and it's ship. It
was really really I'm like, okay, buddy, like he just couldn't understand

(12:50):
why wouldn't you just put her onone right? Like doesn't necessarily Well,
we really have to treat Albell likevery gently. Yeah you know what a
cool though, Like yeah, likethere's this embedded inclusion element. Yes,
he just already has yes, exactly, Like I mean, as a mom,
I'm assuming that's got to be areally great feeling to know that as

(13:13):
he grows older, that is alreadylike ye like in his DNA of like
I'm and I'm like, this isnot something that i've you know, he's
not too yet, like we've nothad conversations with him. We just you
know, and you know, inthe moment, I'm like, oh,
you know, overwhelmed, like Okay, we're in the middle of the parking

(13:33):
lot. I just want to runin. But I really paused in that
moment and just thought like how coolis you know, really kind of took
a step back, was like youknow what, like, yeah, let's
just sit and enjoy these for aminute. And you you want to enjoy
it, but you want to makesure your sister enjoys it. Yeah.
Man, that's such a great lessonfor anybody listening, regardless of whether you're

(13:56):
a parent, or especially if you'rea parent, or even if you're you
know, don't have a child ona rare medical journey. The idea of
just taking these little moments and beingpresent and soaking in that moment. And
it's so hard to do that sometimesit really is. And so you know,
yeah, I mean there's the commonphrase of that the the days are

(14:16):
long, and the years are short, you know, and you just like
you wake up and you're like,man, where those days go? Where
those years go? And you don'tyou would give anything to go back.
And you know, like Facebook memoriesare like the prime, prime example of
yeah, what a great what agreat moment. So tell us a little

(14:37):
bit more about Ellie's Ellie's school lifeand what that looks like in terms of
her classroom makeup and the other kidsand her interactions with them. So Ellie
goes to Yeah, she goes topreschool. She is, and she goes
four mornings a week. It's likeeight thirty to eleven. So she takes

(15:00):
the little you know, the littlebus that comes and picks her up and
we buckle her in. So shegets on the bus and they have like
similar to a car seat, like, so she gets strapped in like five
point harness, so it's very safe. She gets on the bus, they
take her to school, and thenshe has this just amazing, amazing aid,
Elena, who has just been sucha blessing to us this year.

(15:22):
So Elena gets her off of thebus and she goes and takes her straight
to like all the other preschoolers getdropped off they don't, you know,
they don't qualify for the bus oranything like that, so they're getting dropped
off at the same time. Andso Elena and Ellie they walk in with
the with the kids. They jointhe line and they walk to the preschool

(15:46):
classroom and she starts her day therewith all of the typical three year olds
in the class, and they docircle time, and I'm not sure exactly
what that looks like, but Ithink they talk about the weather, the
days of the week, you know, they say hello, they do all,
you know, all of that kindof stuff. And then it just
depends on the day. So shegets all services there as well. So

(16:07):
I think on like Monday and Thursdayshe has her speech in OT and then
Tuesdays and Wednesday she has pet,so just depending on the day of the
week she I believe, she thengoes and has her services, and then
she continues to the special ed class. I think there's like at most three
kids depending on the day, inthat classroom. And it's really nice this

(16:30):
year because her teacher was actually oneof the paris, so she actually did
go we'll get into this part ofstore, I feel like, but she
made it throughout six months of herschool year last year, so she did
go to some preschool kind of likeSeptember twenty twenty two to March of twenty
twenty three, and so her teacherthis year was one of the pairs in

(16:55):
the classroom, so already kind ofknew Ellie. And so then they go
there and she just gets a littlebit more one on one focused, Like
they mimic circle times, so whatthey talked about in circle time, they'll
just spend more time working on inthe classroom or just you know, being
able to navigate the classroom in justas much smaller capacity. They usually will

(17:17):
do whatever craft with her. Theyreally sit and they have her aac up
and then you know, they haveher request what she would like to play
with and just kind of really giveher a little bit more individualized attention.
And then she ends her day goingout to the playground. You know,
I think they go out most mostdays, depending the weather, and she

(17:38):
gets to play on the playground withback with the typical you know, classroom
with Elena at her side at alltimes. And so yeah, she gets
to finish finish her day off thereand then she gets on the bus and
she comes home that's so cool.So she she must have a really great
relationship then with Elena, she does. Yes, Like one day she told

(18:00):
me when she got home from schooland her teacher had told me, like,
hey, Elena was out sick today, and I mean she on her
aac like went and looked for hername and like kept looking at Elena's picture.
There's like a picture of Elena withher name on Elena Elena and looking
at me and I'm like, Iknow, I know Alena wasn't there today.

(18:21):
I heard about that. So yeah, she's yeah, she's pretty special.
That's awesome. Yes, it's Iknow, it's not that it can
be difficult to find something you reallytrust to, you know, send off
your you know, nonverbal, youknow, fall risk child to be with
someone else. It's so it soundslike then her preschool is part of the

(18:42):
school district. It is, Yes, yep, exactly, but she won't
have any other transitions, like shewent it's time for kindergarten. She gets
to just keep going. Yeah,she will. And we did recently have
a meeting because so in the stateof Mewny, I'm sure the deadline for
birthdays is September thirtieth, for kindergartenin and she is Sipptember twenty fifth,

(19:03):
So we kind of had a conversationof you know, do we do another
year of preschool or like what theheck, Let's send her and give her
longer and put her in kindergarten.And so she's gonna go to kindergarten in
the fall. That's awesome. Yeah, and it's full time. So oh
that's exciting. She loves it,you know. That's how if she Yeah,
just showing how excited she is aboutschool, I just think, yeah,

(19:26):
this is she's ready for that transitionof just being at school a little
bit is awesome. Yeah, solet's get into her medical journey a little
bit. So tell us, youknow when she was born or at what
point did you like start to pickup on himself. So basically, I
mean I had a very very normalpregnancy, completely normal delivery with her.
She came late. I got induced, but that was like really the only,

(19:49):
you know, the only thing thathappened. So she was born at
just about forty one weeks, completelyhealthy, newborn, like eight slept,
she rolled over. I mean Ilike at three months, like or between
three and four months, like totallyno concerning signs, nothing like developing,

(20:14):
you know, started eating between fourand six months, like solid foods,
no issues with feeding ever, noissues taking bottles, nursing anything like that.
And then I would say she startedto sit up. She like on
time like between seven right around.I think I've saw pictures recently she was
about seven eight months sitting up,but just definitely fell a lot. And

(20:38):
like now that I look back atpictures, like sat up, but like
had this kind of slumped sit up. And something that does stick with me
is that I remember too, likeyou know, you sit your baby on
your hip, like once they're bigenough, just kind of like and I
just like, and I've done,I've had lots of cousins I had baby
said a lot like it. Shejust didn't feel right on my hip,

(21:00):
Like you know, it's hard tosay exactly, but I'd sit around my
hip and it just felt like sheshe didn't seem to like kind of wrap
her like chubby little legs or youknow, anything around me. Like Okay,
that was like maybe the first thingthat I was like, she never
sat right on my hip, butit's like a with my finger on it.
And then I'd say, right,around nine months when she was like

(21:21):
starting to maybe try to pull tostand. I mean her feet just like
went out at these odd angles andshe really that's when she really would fall
and fall and fall. And soyou know, we were at our nine
month pediatrician appointment and she was likeI see what you mean, Like you
know, why don't you go seeORTHO, which you know, okay,
sure, She's like I don't knowwhat this is, but yeah, you're

(21:45):
right, like something, why isher feet basically turn out like she was
like she looked like at this littleducky walk like her feet turning out like
that orthos Like this baby's not readyto walk, Like, don't push her.
They maybe did some hip ax.I think they maybe did X rays
of her hip. Oh those arenormal, Like she's totally normal. You're
fine. I just you know,and you just have that you really do,

(22:07):
like have this instinct of like Idon't think though that like I don't.
I just didn't trust it. SoI just like went ahead and I
made a referral for her for PT. I'm like, you know what,
maybe that's the ab NO. I'mlike on research, like I think she
needs these little ankle braces. Thatlike, you know, like for the
way her feet turn out, likemaybe that's all she needs, like something's
just not quite right, Pea forjust a second. Sure that's okay.

(22:30):
So you said that, Orthos said, no, if everything's fine, oh
yeah, yeah, oh her hipslook normal, like she'll want her ready
exactly. And how long did ittake you for you to say, I
don't really like I'm gonna trust mygut over Yeah, it was pretty quick.
It was pretty quick after, Ifeel like, because I think that
was I want to say it waslike in July of twenty twenty, and

(22:52):
I know for sure we saw ptin August of twenty twenty, so it
was within a weeks that I stilljust did not trust that at all.
I just felt like and then soyou know, I just on research.
I'm like, you know what,let me take her to a physical therapy,
like, let me see, andit was something I could just do

(23:14):
on my own. I just hey, let's go get her evaluated. And
they did and they said, oh, yeah, you know, like her
feet are pronating. They kept youknow, pronating out. But that was
the you know, oh yeah,I think you're right. Yeah, we'll
put her in these little smo anklebraces like that'll be you know, yeah,
we'll just get her feet straightened outand then she should be walking by

(23:34):
her first birthday. Oh okay,sure, ordered the SMOs put the SMOs
on, continue PT continue, PTlike okay, she's not you know,
she was crawling. I think atthat point she was crawling, you know
so, and was again pull pullingto stand but falling, and just I
would say, by January of likeI think I can't remember she was going

(23:59):
one or two times a week toPET at that point, like okay,
like we're not making much progress.She's like not close to walking at all.
And that's when Tua became realizing,like, you know, she really
isn't saying anything, or she's notreally trying to play with the toys,
like play with toys. And Iwill actually jump back to say, at
the same time that I went infor a PT evel, I also contacted

(24:25):
Early Intervention, who did a zooma zoom intervention because again this is twenty
twenty, like no one's coming anywherenear anyone's house. And again very quickly
they told me, oh, yeah, she looks great, she looks fine.
Okay, okay, I'm crazy.That's great, you know, like
who wouldn't want to hear like,oh, yeah, you're there's nothing wrong

(24:47):
with her child. And then I'dsay January February, like a different Pete
came into one of her sessions andwas like, you know, I'm starting
to get a little bit concerned.And this was the first time this had
ever been told to me about herlow muscle tone. I said, you
know, no one had ever saida word that she had low muscle tone.

(25:08):
And again she was she wasn't superfloppy as a baby, and she
was meeting some milestones like now Iknow for sure what low tone looks like,
but at the time, like,no one had told me that she
had low muscle tone, right,And then when you do research, it's
like, okay, well low muscletone or hypotonia, like that's a symptom
of something, you don't just havelow muscle tone. Like so that's when

(25:32):
you know this pt decided, likeI mean, and she felt very strongly
that it was like actually pretty significantthat she asked my permission. She called
our pediatrician that day and said,this child really needs to see neuro like
I really think she should be seeingneurology. You know, I think there
is definitely something going on. Yeah, And so our pediatrician called, and

(25:56):
again this is now like still thewinter, we're into twenty twenty one,
but like we're still seeing COVID andso they're like, okay, yeah,
we'll schedule a zoom appointment. AndI like think ipediatrician was so great.
She said, no, no,you need to see her in person.
So I think that we had firstseen neuro in March of twenty twenty one

(26:18):
in person, and you know,I don't They said, yes, she
has a little muscle tone, butyou know, they felt like her vision
was fine and she reached for things, and you know, I don't think
they were overly concerned about the lackof development in our other areas at the
time. So they said, okay, keep doing the therapies, but I
think, like, let's go aheadand do a brain MRI. So they

(26:40):
did, Okay, well that's normal, but she's still not making any progress
from this point on, and sothat's when we started our genetic journey of
you know, okay, well,yes, low muscle tone can be you
know, involved in a lot ofgenetic conditions and so I mean long story
shirt short for the year of twentytwenty one. First on neuro in March

(27:00):
of twenty twenty one, and thenin November of that year, we got
her results back finally through a seriesof testing I believe, I honestly cannot
remember. There were two levels oftesting. The first how it was described
to me, like, the firstlevel is like, think of your body
like a book. So the firstlevel just looks to see if you have

(27:22):
every chapter of your book, andso she had every chapter of her book.
And then the second level, thelittle bit more in depth version of
her genetic testing, like looked atall the words and all the letters in
the pages, and that's where theyfound this, you know, super super
rare genetic condition called RHOBTB two syndrome. So I get a call from genetics

(27:47):
that says, you know, yes, it came back. We'd like to
schedule a zoom meeting to talk aboutit. This is what she has.
Don't google that though, just waituntil next week when we can tell you
all about it. Yeah. Yeah, that is a common phrase that we
hear and when talking with families,is the this is what it is.
But you're gonna see You're going tosee the worst case scenario this the moment

(28:11):
you type it into a search engine. So don't do that exactly. But
of course most people I have Ihave met some families that said, no,
we actually didn't do it, butmost people will actually, you know,
I don't even think that the callwas ended, and I was,
of course, and you know inthe background like, okay, I do
want to pause and recognize something that'sthat I think is cool from my perspective

(28:33):
because in talking with a lot offamilies, everyone has experiences with medical professionals,
like a variety of types of themspecialists and pediatricians and therapists and all
these different types, and their experiencesalways range. They have some that are
great, they've had some that areterrible. But it's really cool to me

(28:53):
that in your in this story thatyou just told, there were two cases
in which people stepped up up andadvocated on behalf of l E and for
you, helping amplify your voice.One being the PT staff that said,
you know that said, not onlyI think something's going on here, but

(29:14):
let me let me communicate my concerndirectly to your provider and the pediatrician,
and then the pediatrician turning around andsaying no, she needs to be seen
in person. Those there are enoughbad stories that we that we hear where
the medical those medical professionals didn't liveup to or expectations or it was a

(29:38):
negative experience. And I think it'sit's worth noting those types of professionals that
step up and do that, becauseit's in an industry that's so whether we
want to believe it or not,is so business driven for there to be

(29:59):
evident of these people are most ofthem are genuinely in it because they care
about the people that they're serving andit's about patient care for them. And
so anyway, I just wanted tothink, no, I recognize that.
I will always say Ali and doctorFitzgerald, you you know, really kind
of gave that push and you know, yeah, they were they were great

(30:21):
all the way through. Yeah.So then let's jump to you hearing about
the syndrome that you were not supposedto google. What was that? What
was that first impression as you weregoogling and reading up on it? I
mean, what were you finding outand how did that make you feel?
Yeah, you know, first ofall the fact that they say yes,

(30:42):
something came up like that alone,you're like, oh my, you know,
even though you want an answer tolike why isn't my child progressing you,
you you don't want you don't wantthere to be in it, like
in some bittersweet moment exactly like ohokay, and then you want it to
be something like oh, yeah,they are they catch up or you know

(31:03):
what whatnot like oh it's it's veryminor and yes, or yeah you can
fix the or some you know,I don't know. You just get this
cold feeling just in your body,and your just heart drops and your in
your stomach drops. And I willsay too, before I even googled this,
I was twelve weeks pregnant with Ellie'sbrother at the time, so that

(31:30):
you know before you even go there, like oh, there's a genetic problem
with your child, and knowing youhave another child that you're currently growing and
you don't know if you're unknowingly passingsomething on someone. At the time,
we didn't, we didn't know anythingabout this yet, so right, the
things that are going through my mindare like, oh my gosh, I
you know, I didn't I didn'twait, I didn't wait. I didn't

(31:52):
think something was going to come back. I didn't think she would have a
genetic problem, so we went aheadand hadn't try to have another baby,
and you know, are we aboutto do this to another child? So
I mean, so initially you googlethat syndrome and there's not a lot of
information at all. There's maybe twoor three articles that pop up, and
it tells you that there's about twelvekids in the world with this and it

(32:19):
in The part that was difficult forme was that one of the very signature
you know kind of things with thiscondition is seizures. And I'm like,
well, okay, like you know, you don't want to believe it.
Well, my child's never had aseizure, so they can't have this.
What it tells you, you know, they'll have like a brain the brain
MRI might be normal, but they'regonna have seizures, they have like you

(32:42):
know, these developmental encephalopathy, theyhave their you know, they'll never speak,
most of them never walk, alot of them might never eat.
They'll be severely, severely kind oflike disabled or intellectually you know disabled.
And then there's another component to ittoo that says they can have this thing

(33:02):
like this movement disorder where they getthese really painful like kind of like this
dystonia is what they'll say, wherelike their muscles might contract and they have
no control over it and it's veryvery painful for them. And that's it,
okay, Like you know, basically, get any eg to check your

(33:23):
brain waves and do therapies, butthey're and maybe treat your seizures. But
that's what we know. That's it. It was this gene was just discovered
in twenty eighteen, so we werejust a few years over them knowing what
this gene did. And I'm startingwith diagnosing people. So I don't remember

(33:45):
if it was when we finally metwith the geneticist or if I found this
on my own, but there wasa Facebook group which is still to this
day the most helpful. You knowthat if I'd say there's at least roughly
forty kids in the world with thisnow base off the Facebook group, like

(34:06):
more and more since we have beenin it for two years, more and
more people are joining it, andyou will see what the literature is not
telling you is that like in whatthe genetics systs are realizing too, is
like there's definitely a range. There'sa full range of you know what the
kids kind of do, but mostlythe I think most of them have had

(34:30):
or have some form of seizures,and most of them, if not all,
are and I have a difficult time. I'm not sure. I still
don't know what terminology I prefer touse, whether non verbal or non speaking
or you know, I'm still playingaround with how I like to view it
too, and that's just like mypersonal thing. But I mean, I

(34:52):
think I like to say that Ellieis non speaking because she's very verbal in
your own way, and she's veryexpressed, and she's very communicat to with
very to no words. So yeah, but that seems to be a signature
thing. And then so most ofthe kids have from very very early on,

(35:15):
like months old, had many manyseizures. So a lot of them
actually did get diagnosed, I thinka little bit younger than Elie, except
for the ones that they didn't knowwhat they had until twenty eighteen. And
there are definitely a handful out theretoo that have had, you know,
seizures and you know, been disabledor delayed and whatnot, and intellectually how

(35:37):
you know, however you want toterm it. And then finally got an
answer and so again that they werebasically left it as because it's arranged and
because she's never had seizures, youknow, her brain hopefully can progress a
little bit more than the people whohad seizures from an early age. And

(35:57):
you know, Ellie will tell uswhat she's going to do, and I
do think that's how they signed itoff, Like she'll tell us what her
life is going to look like,her own story. Yeah, exactly,
So we're just going to let herlet us know. Yeah, so is
it in this case when it comesto the spectrum of how how things are
presented, does that stay pretty staticfor that child, for that person or

(36:22):
is there a progression where as thingsgo on, you might see some things
happen, or is kind of whereshe is right now where you kind of
expect her to stay. So westill don't really know because I you know,
and this is learning through the parents. Like some of the parents have
recently said like, oh my childstarted talking at seven or you know,

(36:43):
and I know that, like there'sjust questions about speaking or like or even
like potty training has been one andpeople say like, oh no, we
were able to do it. Wewere you know, Yeah, they have
some words or like yes, theywere like eight or ten. But like
we have seen, you know,kids can make progress basically, but they
can also regress. And so Iknow, like specifically, like one little

(37:09):
boy, I think he was actuallylike on more of the mild end and
he developed not until he was likefour or five. This the movement disorder,
piece of this disorder where he losescontrol of his body just spontaneously,

(37:29):
his his his arm locks up,he cannot speak, he can't even he
stops being able to eat, likeand it really varies on the timing of
you know how long these last theseepisodes are, when these episodes are going
to happen, so you know,we don't we don't know, like you
know, and they don't know enough. And actually we did get some like

(37:52):
really exciting news just a few weeksago that there is a doctor out at
Stanford who is at least showing interestin this disorder and he is starting at
least a registry so far, aregistry of all the kids with this syndrome
and is really going to start researchingit. So it's awesome, you know,

(38:14):
that's just amazing. It just givesyou a little bit of hope of
like somewhere, someone somewhere who hasthe knowledge, cares enough, and is
interested enough whether or not we eversee anything in our lifetime come out of
it, or maybe they're you know, but it's just so there's somebody out
there currently, Like just last week, I honestly, just a week ago,

(38:36):
I filled out the registry for herto send that in to get her
name on a list, to sayshe has this, and we are interested
in whatever they want to, youknow, look into well, and at
a minimum, it becomes an expansionof that community that you talked about on
Facebook. I don't I can't evenbegin to count how many families we've talked
to where they've said these Facebook groupsare like our saving grace because they are

(39:00):
the people that that know exactly oras close to exactly what we're going through
as anyone we've ever met. Andyou can try to family and best friends,
you can try to communicate and andhave them live side by side with
you, and they I know,you know, most people are surrounded by
those types of people that will doit to the best of their ability.
But there's something different when it's likethese people are actually going through the same

(39:23):
mothers and fathers knowing, you know, under just understanding on that level of
yeah, watching your child go throughsomething. I mean we literally go to
her neurologists appointments and she and Isit there and look through the Facebook posts
like I mean, she'll just say, what, what are them? What's
going on out there in the inthat community? You know, that's where

(39:45):
she It's like we go there forme, for me to teach, you
know, for you're the educator,you're the Yeah. I shoved to that
appointment to talk to her about thingsor message her, and she'll say,
well, okay, what are thewhat are the parents saying about you know,
such and such drug? Did thatwork for their child? Like?
What are they seeing? So it'sthat's yeah, that's where we're at with

(40:07):
that. What a blessing? Yeah? Yeah, So I mean I don't
know if you want me to that'slike a little bit more to her story.
Yeah I do. Yes. Let'sso she got the official diagnosis came
out you said when she was aroundtwo, Is that right? And then
so when she's diagnosed the actual atthat point, this syndrome has only been

(40:30):
identified about four years. Am Idoing the math right there? At the
time, only for four years.Yes, Wow, Okay, so that's
why there were so few children atthe time. Again in just ye tell
us then it's since then, Isay, probably in the two years since
then, it's either it's like doubledor tripled. You know how many kids

(40:52):
are getting diagnosed with with that byby now. So I think we're into
the forties, I would say,and definitely all over the world, all
over the world. I think there'ssome families maybe in like New Sure,
maybe Rhode Island in Pennsylvania that's likethe closest to us, but then like
a California all over, but I'dsay equal amounts in the United States and

(41:15):
then elsewhere, gotcha? Okay,yeah, well, so tell us then
what after diagnosis kind of would havebeen the high point of the struggles.
We could go ahead and do sometesting on we didn't know it was BEN
at the time, but on Ben, but that this gene is typically denovo,
meaning it just happened spontaneously. NeitherJoaquin or I are carriers of this,

(41:39):
and so we had the same percentageof passing this on to another child
as we did Ellie, which islike so so low, so kind of
like the risk of doing any formaltesting on you know, on Ben while
he was growing inside of me,well far outweighed the chance of him having
this disorder as well, so hedoes not. He is yeah, typical

(42:02):
you know, you know, developingchild. So the really kind of you
know, okay, we follow,we follow. She got the diagnosis.
We now have a you know,an established neurologist that in a geneticist I
guess, who basically said like,hey, we'll let you know if we
ever learn more about this disorder,like we'll check back in a year.

(42:24):
That's kind of how we left it. Unless in the you know, and
they scheduled her like a one houreeg. Just because of the huge seizure
component of her disorder. But thatwas pretty much like inconclusionor she wasn't like
having seizures that we saw in onehour. She was on it. So
we just kind of went about continuedoing therapies. She was progressing because I

(42:47):
mean at that point she did finallystart walking. I should backtrack like around
just over to just before her diagnosis. We got her into speech, we
got her into ot. We justkind of like you know, lived life
like a typical family, except shewent to therapies and you know, a
lot. And then we had Ben, and then then I had the two

(43:08):
kids, and it was like,oh, this is kind of hard.
And my husband was home for Ithink a week and then Okay goes back
to work like Okay, I gotI got this. I'm home with the
two Well I didn't have it orI mean, we were getting ready for

(43:29):
Ben's two week doctor appointment and Ellieclimbed up the stairs behind me, and
then for whatever reason, at thetop steps, she just kind of paused,
and I was like, come on, I'll like, let's come up
because we have a gate, likewe shut the stairs, like we don't
mess around on the stairs. Youknow. I am like trying to like

(43:50):
get everybody ready to get out ofthe house, and she just starts kind
of laughing and looking at me likeoh, this is a game. But
I'm also I am holding the baby, and she turns to go away from
me, and she just tumbles downthe whole flight of stairs, and I
mean, I am just yeah,I can't catch up to her. I
just see her, you know,she's just each one step ahead of me

(44:12):
ends at the bottom and I youknow, I just got this feeling in
my head like this is this isreally bad. Like this is not this
is really bad. This is reallybad. I just know I feel like
there's somewhere in her syndrome that likeI have to be really careful about shaking
her head, about bumping her head, just like there's been a lot there's
been instances of kids having these minorhead bumps and really like so but she

(44:37):
cried. She cried, but thenshe she kind of just popped up and
started to go back up the stairs. And I'm like, okay, but
I call my husband specifically, andI'm like, I don't have I don't
feel good about that. Like shejust barrel rolled down all of our flight
of stairs. But she again,okay, she cried, She got up,
We went back upstairs, We shutthe gate, we got already,

(44:59):
she around, I think, andthen we got in the car to go
to the pediatrician's office. And it'snot very far, it's ten minutes away.
We were at a red light waitingto turn in there and I looked
back and she didn't look good.She looked terrible. Her face was really
flushed, she couldn't keep her eyesopen, she wasn't really responding. So

(45:20):
I just fly into the pediatrician's officewith both the kids. I get her
and a stroller. I'm like,way in and whatever his check up,
and I just fly in and I'mlike, I'm so sorry, but like
the baby's fine, or can youplease look at her? And so we're

(45:40):
in a room and she's in herstroller, and you know, they're like
check her temperature. I don't evenremember exactly, and then she starts seizing
her first seizure like the typical likeshe and and I should backtrack and say
that I am a nurse. Iam in a critical care. I worked

(46:00):
in a neurocritical care, like,so I know what a sea looks like.
And so at least by some sense, I'm you're you have this,
You're prepared because you but you're notprepared to ever see that happened to your
child, right right, So youknow, she closed her eyes, her
eyes rolled back, close your eyes, start smacking her lips, and then
goes into like her whole body fullfull shake and now and at this point

(46:22):
someone had they had stepped out forso I am like alone in this doctor's
office with my infant screaming because he'sstarving, and my toddler seizing in her
stroller, and you know, soI mean I run out and somebody just
grabs the baby and they're like,ah, you know, at this point,
I'm like nursing him. I'm likegive him a bottle, Like I
don't even care. I'm like Ican't even think about this, that child

(46:45):
right now, And you know,we she just keeps seizing and seizing,
and they call nine one one andand now I'm there by myself with my
two kids and they're looking at meand they said, well, like we
can't take the baby in the ambulance, so we have to take her and
you have to to walk out toyour car and you can meet us there,

(47:07):
like you can't come with us,basically, and so you know,
they just off she goes. Andnow I'm just running out with my newborn
and just flying you know, doyou know how to get to the hospital,
and yeah, sure, like yeah, I mean I do know,
but like at the time, likeno I don't. And they're looking at
me like should you drive, andI'm like no, but I I have

(47:29):
to go. So I just yeah, I just raced to the hospital.
I run in and you know,they have this like social worker and meet
me, and I'm like looking atthem like, oh my god, I
feel like this is bad. Andthen they take me to this like little
side room and I'm like, ohmy, I feel like this is the
bad newsroom, Like what what ishappening in here? But actually they were
like, we don't want, likeyou have a two week old with you

(47:51):
and this is a disgusting emergency room. We're trying to give you a private
space to put him, so butthey you know, come in. You
know, yes, she's still seizing. I think we're gonna have to put
a breathing tube down art because tooxygenat her to get her to stop again.
I know all of these things fromwork, but not for my child.
I'm like, I understand, Iunderstand. Okay, my my my

(48:14):
husband's on his way at this point, my sister's on his way, at
this point, my parents leave vacationin Maine. At this point, everyone's
coming, but that I'm still alone. I'm still alone, and I still
have a baby crying who wants toeat. But everyone was everyone was great,
and and by some stroke of luck, they got her to stop seizing
and they did not have to intubateher, but they treated her because because

(48:37):
they heard, oh she fell downthe stairs. I mean, they took
her to cats scan. They reallythought, and in my mind I just
knew. I said, like,no, like nothing's actually going to be
wrong, Like nothing's wrong. Thisis her syndrome. This is her syndrome
showing us, you know, morelike what what it can do and what
it can look like. So butthen, and maybe I don't want to

(49:01):
jump ahead, is does does thatuh that like just that little bit of
trauma in that fall, Yeah,is it triggering then the symptom that's just
kind of like sitting there dormant.And then it's yes, and that has
now. So since that occasion,we get and now I'm like, two
weeks postpartum, Oh, mom,you have to get in this helicopter and

(49:22):
fly to Boston now with this child, your baby, and oh because your
husband, you know, weight limitsand whatever, you're the only one that
can fly with her. I'm like, oh, okay. So I mean
that whole experience was just you know, never mind being a postpartum mom.
But so that time, I willsay, luckily, you know, she

(49:44):
woke up a few hours later,shell they we got her, and we
got her to Boston. Children's Theyput her on EEG. She wasn't having
any further seizure activity. Again,she never needed to have a breathing to
put in. And by the timewe were moving up to a room because
they definitely planned to keep her overan she woke up and she was Ellie,
and she was like, you're sayingthis is a second incident. Was

(50:06):
now this is the first inside it'sstill the first incidents of this, and
so but that time, okay,she woke up and she was fine,
and by like noon the next day, essentially twenty four hours later, we're
discharged home. Except now we're onan anti seesion medication and have a rescue
medication should this happen again. Okay, go ahead along, you know,

(50:29):
have a check in sometime maybe amonth later. And then I think over
the wind, maybe in December orsomething like that, like okay, yep,
you know, keep her at thisdose. Everything looks great. And
then March of twenty twenty three hitsand so now we know, okay,
like but again, like falling downan entire flight of stairs seems like,

(50:52):
you know, a reasonable amount ofhead trauma that like would trigger this.
So I work night shift as anurse. I it was due to work
for a weekend. I work Fridaynight, come home Saturday. I will
never forget seeing her in these greenjammis sitting and eating her breakfast, smiling
at her, give her a kiss. You know. Okay, mom's going

(51:13):
to bed. I have to goback to work tonight. I'll see you
later. I'm gonna wake up.I'll wake up later and you know,
we'll play and I'll see you againbefore I go to work. And so
I wake up like three thirty inthe afternoon roughly, and the first thing
I like, you know, Ihave a text for my sister, which
is weird. And she says it'sEllie okay, And I'm like, I
don't yeah, what do you like? What do you mean? Like?

(51:36):
At this point, I have knockgone downstairs. I haven't seen her.
I'm like, yeah, why andshe said, oh well, laquin Face
timed us earlier. She kind offell off the couch and he was really
worried about her. So he andmy sister's boyfriend is also an I see
you nurse, and he was awake. He facetimed us to look at her
because he was really concerned, youknow, we think she looks okay,

(51:57):
so we went ahead and put herdown for a nap. I think that
was the plan. I'm like,okay, yeah, let me go find
out. I go down and he'slike, yeah, she kind of tip
backwards off the couch and she andhe's like, but you know, I
kept her awake for like, sothis the first incidence in that July.
Within forty five minutes, she hadher seizure. So he's like, I

(52:17):
kept her up for two hours,and she just she was a little fussy,
she seemed kind of tired. Butbut and I kept her emergency medicine
right with me. But she didn'thave a seizure. She didn't have a
seizure. So I put her downfor her nap. Okay, yeah,
totally yep, that sounds okay.And then you know, it's not like
four o'clock, and we're like,and she was known to take pretty good

(52:38):
naps, so like the fact thatit's now three and a half hours of
her nap wasn't so concerning. ButI'm like, okay, it's four o'clock,
Like we should go wake her up. So normally we can we have
an app we can shut off.She has a stad machine, and I
mean within seconds she starts moving around. Yeah, typically we do that like

(53:00):
nothing. So I'm like, allright, let's I go up there.
And that's when I realized that shelooked like she was kind of curled up
on our side, but actually likeher head was tilted to the left over
her left shoulder, her her eyeswere half open looking in that direction.
And I was on her right side, and she couldn't she could hear me,

(53:20):
but she couldn't, she couldn't lookover there. And her right hand
was like curled up, tight tight, tight, locked, like she couldn't.
She couldn't. She was stuck likethat. So we are like,
oh my god, what this youknow, not ended up, you know,
nine to one one. This isthe first time, well, I
mean at our house. They come, they take her, and she just

(53:43):
looks bad like she and again wenever saw a seizure this time that we
can say as a seizure. Butthis time, now, I mean,
she has no movement her right leg, her right arm is locked up at
her side. She cannot even turnher head over to the right, she
can't turn her eyes to the right. Her heart rate is through the roof.
She has a fever. I mean, she looks terrible. So another

(54:07):
flight down to Boston Children's. Thistime because her symptoms were so significant,
they sent her immediately for an MRIand they said, like her entire left
side of her brain is so soswollen like on imaging, and so we
get admitted and this time is avery very very long recovery for her.

(54:32):
We end up spending two weeks atChildren's hospital. She does have a few
seizures within those two weeks that arevery very scary and very very long.
And she I mean, I wouldsay probably for almost ten days, she
couldn't do anything on her right side. She including moving her head, her

(54:52):
eyes, I mean she would callI mean it was very cute. She
would still smiling through it all smilingsmiling, but her little like half smile
because her right side of her face, I mean, nothing works. They
have to put a feeding to dinnerbecause she cannot swallow. She was an
infant again. I mean, shewas going from running running that morning to
she couldn't even lift her own head. I mean, she was full full.

(55:16):
She lost everything, her swallow,her head, control her you know,
she lost everything. Yeah, Soyou know that was just like oh
you know, Oh my god,she's on an off EEG's. They tried
different seizure meds. One of themwas horrible, horrible and just like I

(55:37):
don't know if she her eyes swelledshut from it. I mean she just
had like just just horrible And soI'm assuming then this is why you mentioned
the last last year, K yes, why I mean, like, like
last year, I feel like therewas this like this just halt in everything

(55:58):
in life and everything March hit andit just yeah, it, that was
it. So then you said shewas there for two weeks. She was
there for two weeks, and soby the end of the two weeks,
she could move her head, Shestarted to be able to eat again,
she could move her eyes, shecould now swallow again. She was just

(56:19):
starting to be able to hold herhead up with some support. She was
getting a little bit of her nextdrink back. And I think she had
some movement in her Like her rightleg. It wasn't anywhere back to where
it was, and it wasn't likeshe couldn't move her foot or her toes,
but she could like lift her legup from the hip. But that
right arm, there was nothing,nothing there yet. So we then went

(56:44):
to Spaulding Rehab and she was endedup spending five weeks there, five weeks
working on getting her right side backagain. And that is that as an
impatient impatient Oh yeah, we wereseven weeks now, seven weeks. She
was in a facility from March eighteenthto May fifth. So we're coming up

(57:09):
on her one year Sinco to dischargeday, that's what we called it.
We had a big party for herhomecoming, so we are just coming up
on the one year mark of herbeing home. But yeah, and I
mean, this is got to bea little bit of a It really is,
because everyone's you know, talking aboutlike, oh, you know,

(57:30):
Synco to Miles coming up, andall I can think was preparing for her
coming home much So, yeah,it really is. And there was many
times like from I feel like inthis time frame this year that I have
been like we you know, wehave to go do such and such,
or we have to go do thesethings. I was like, she wasn't

(57:52):
even out able to be outside duringthe spring last year. You know.
There's just been a lot of timeswhere I'm like, for some reason,
I feel like we have to makeup for a last spring and double it.
This year of like we just needto be doing all the things,
We just need to have the mostfun because of that. Like, yeah,
so that's a good sign. Thatmeans that since then things have continued

(58:15):
to progress in the positive day.Yes, Yes, so she did leave
Faulding like with I mean, therewere a little signs of movement on her
right side, but she actually stilldidn't have much much movement of her right
arm. And I mean she sheworked, she worked her butt off we
left there, I mean, andthat didn't me Yes, just because she
was home didn't mean she was goingto therapies post days. And I would

(58:38):
say by June she really she couldkind of walk by the time we left
there, but because her right armhung so like she couldn't walk unassisted.
It wasn't until she started to getthat function in the right arm back that
she was able to start kind ofwalking a little bit more independently. Again,
So I think by July of lastyear she had most of her function

(59:02):
back, and then it did takethough quite a few more months for her
to then have her like strength andher stamina back. Yeah, And we
did have one heck up in Octoberwhere she kind of like slipped on something
on the floor and fell and hither head again. And forty five minutes
later she wasn't moving her left armand she lost consciousness, and so you

(59:28):
know, and we went in there, bring her to the hospital and like
now we don't know, Okay,are we here for one night? A
we are we here for months?Like what? And so luckily, similar
to her first ever headbump, shewoke up about twenty hours later with full
function back to Ellie could walk thenext day. So that was a minor

(59:52):
one. But I mean, literallyevery single day you do not know if
she's just gonna bump her head wrongway, like every second, every second
of the day. You outside ofoutside of those three occurrences, she has
not had seizures that you're aware of. No, And they don't even know.

(01:00:14):
So the first one she had avery clear seizure with the head bump.
The second one was in the hospitallike post head bump, and they
think from the swelling of that side. And the third one we don't think
she did so it Yeah we don't. We're not sure, but we don't
think she Yeah, so the seizureskind of yeah, she does not have.

(01:00:35):
Yeah, she is on to seizuremedications every single day because her doctor
is just like, I don't really, we don't know, we don't know
what we don't know, and wedon't want her to have a seizure because
we don't ever want her to haveto lose any part of her body function
ever. Again in the precautionary thenyeah, yeah, So it's just she's
like, I'm normally okay with lettingmy kids see Like she's like, I'm

(01:00:59):
on appleptologists, like my kids haveseizures. Like I'm usually kind of okay
with seizures. I'm not okay withLa having seizures because I don't know if
that we don't know if the seizuresplay a factor into her brain smelling or
if it's all the bump to thehead. Like there's just not enough that
we know. Yeah, so wejust like don't want her, you know,
don't want to seize, don't wantto bump her head, don't want

(01:01:19):
her seize. Yeah, and likegood. Obviously, the pool of people
I mean that have this is veryvery small. But of those that's known
is the balance and sensitivity to falls. Is that a common uh thread among
some of them? Falls is hardto say they definitely kids have had this

(01:01:44):
happen where they lose the function.Some have it just from like getting a
virus and spiking a fever like thatform of an insult to their body in
a way, So some sort ofan insult to their body. But that
also is a range between the headhead bump again, just an illness in
general, what would otherwise be consideredsomething minor. Yeah, yes, A

(01:02:07):
variety of things can triggering, yes, yeah, basic, Yeah, yep.
Well I want to I want toshift a little bit, uh,
And first of all, I wantto celebrate that such great things that have
been for you guys for the lastyear outside of that hiccup in October.
And I hope you know, we'rejust a few days we're recording this on
May second, so we're just afew days away from yeah, from that

(01:02:30):
coming home day. It's another anothercelebration. Yeah, yeah, I think
that's going to be in a littleextra special every single Yeah. Yeah,
that's awesome. So in in uh, in our conversation and kind of coming
up with the design for Ellie's shirt, the phrase that's on there is catch

(01:02:52):
your breath and look around, andand that came from you referencing tulips because
of the poem Welcome to Holland andhow much that has meant to you and
your family. We've heard a lotof families referenced with poem for reasons if
you're familiar with it. But sojust if someone hasn't heard it, it
doesn't isn't aware of what that is. Tell us a little bit about that

(01:03:15):
and why that has struck a chordwith you so much. Sure, so,
Welcome to Holland is basically written tosay, you know, preparing for
parenting is your your journey in parenthoodis like preparing for a trip to Italy.
You pack your bags for Italy,you read the books on Italy,
you have your whole flight in inyour you know, adventure whatever geared towards

(01:03:38):
going to Italy, and then youeither have your have your child or your
child gets their diagnosis or whatnot.And it's as if the plane suddenly touches
down in Italy. But in fact, the fight attendants announced, you know,
welcome to Holland, and you're like, wait, halland Holland, what

(01:03:59):
we I was going to Italy?And so you know, they say,
it's like as if you come tothis abrupt halt in your parenting journey of
like I'm in Holland now, whichis you know, basically I'm I have
you know, a medical child,I have a special needs child. However
you want to you know, Ihave a child who has more specialized needs.

(01:04:24):
And so suddenly you end up inHolland and you don't know anything about
Holland, you don't know where togo, you don't know what to do
in Holland, and so it's justbasically like, you know, that's that's
how your journey is. You planto go to Italy, you show up
in Holland. You know all aboutItaly, you know nothing about Holland,
and it's just kind of learning.And you know, if you just constantly

(01:04:47):
spend your life this saying like Idon't want to go to Holland. I
don't I never wanted to be inHolland. I don't want to visit Holland.
I want to go to Italy,you're not going to appreciate what Holland
does have to offer. And ithas beauty, and it has tulips,
and it has windmills, and itcan be a very beautiful place if you
allow it. Yeah, you canstop and look around and say, okay,

(01:05:11):
this isn't Italy, but this isokay too, this is this.
You know there is so much hereas well. Yeah, so with that,
I would I would love to hearwhat are the tulips and windmills of
your story that you can look toand say, I wouldn't I didn't sign
up for this, but if Ihadn't, if the journey didn't look like
this, maybe I would have missedthis. What do you have any of

(01:05:33):
those types of things in your family'sjourney? I mean I think just like
in some senses, like I'm like, okay, I'm you know what some
people say, I never want mykids to grow up and move out,
And you know, you have tolook at it both ways of like Ellie
might not ever be able to livewithout us, but you know what,
I'm gonna have Elli in my lifeforever and that you know, you can

(01:05:56):
look at that one of two ways, and so I try to look at
that as a positive of just likeyou know what, I get to spend
you know, my whole life withher, and you know what else was
I feel like I just lost mytrade at thought and just like you know,
you can just such appreciate. Ijust feel like, like Ben is
typically I feel like I compare bothof them. Ben is typically developing.

(01:06:19):
He is meeting all of his milestones. He is walking, he is talking,
he's doing everything like you're supposed todo at two years old. But
there's just something a little bit sweeterof watching her accomplish something and just knowing
how hard and how much more workit took for her to be able to

(01:06:39):
do that. I mean even justlike today at school, you know,
I walked into her classroom and sheturned and blew me a kiss, and
it's like that's huge for her,Like that's just like that's taken so so
much. If you you know,you show Ben to a little kiss,
he can do it the next time. Maybe you show him two times,
you show her for four years,one hundred times the day and she just

(01:07:01):
did it, you know, onher own and wave to me, you
know, and so just that likejust those moments you just have to you
it's just all about perspective. Butyou just have to, you know,
really emphasize all when she can whenwhen she does do something that again,
I try to just really highlight allof the things that she does that you

(01:07:25):
know, might seem so minor,like holding up her finger number one when
we go to count, just understandinglike you know, like like she might
only ever be able to do Idon't know where my camera is, but
one finger. Yeah, but that'sokay, she understands that's a number that
you go to count. She holdsit up like just just those little,
you know, little things, orlike clapping her hands together, all of

(01:07:46):
these things that seem like okay,I you know, I just I just
love Yeah. And to go backto your earlier story of being encouraging you
to take a pause and sit onthe John Deere, like those are the
moments and the moments, yeah,those are the moments reference But you were
literally catching your breath and looking aroundand taking it in, taking in the

(01:08:11):
moment. And I can't say Ican do it every day, and I
can't for every moment, but youknow, you could just be having like
the moment, and you know,there's just always that added stress of like
you're out doing something. And andagain like today they just wanted to play
in the garage. They wanted toplay it or the shed, and I'm
like, oh my god, there'sso many tripping hazards. Like everything,
your mind is always like do notlet her yea head. You have to

(01:08:35):
literally sacrifice your other child in themoment of like he might be going to
fall, but I cannot trust herto not turn around and fall. So
okay, Ben, I'm coming,I like, and I just you know,
there's so much balance. Yeah,it's I'm sure, but you know
so in those moments too, specificallywhen you are at this high stress and

(01:08:58):
anxiety of like, Okay, I'mtrying to let you guys do something,
but like Ellie can't you know,I can't like it. It can be
hard to be in the moment andstop and be like, okay, you
know what, Like just give hera second, let her have a minute,
take your hand off of her.Like she's said, she's more steady
sometimes than we want to let herbe. And again, just appreciate that,

(01:09:19):
like both of your kids are home. You have both of your kids
home outside playing together. Yeah,that's it. That's a great day.
Then, yeah for sure. WellI want to transition real quick. So
you mentioned the hippotherapy earlier and howmuch she loves getting to ride versus.
So funds all the all the ordersthat come through the site, the go

(01:09:42):
Shout Love website during May are goingto help support that as well as a
swim therapy intensive I believe is theplan. Yes, So tell us a
little bit about those two things andwhy they are so important to Ellie.
So, Ellie has done so many, so much physical therapy, speech therapy,
you know, occupational therapy like inin a therapy setting, which she

(01:10:03):
she does love that too because sheloves seeing people. She loves actually being
like the star of the show.So the more people watching are cheering are
on, the better. Yeah,So you know, she's always done therapy
in those sense, like more thetraditional sense. So for her it's like
I can't put her in dance class. I can't put her in soccer and

(01:10:25):
t ball, which is like whatfour year olds should be doing right now.
And so for her, these areher activities that she can safely do
because with horse therapy, it's likethere's somebody guiding the horse. There is
a physical therapist and then there's avolunteer on her other side. They make
sure she does it the safest waypossible for her. And it also though

(01:10:46):
is like doing amazing things with herjust her balance and her stamina, and
like she doesn't know that. Shethinks she's riding a horse. And it's
funny because they do try to gether to do some things like therapy related,
like working on like pushing a popup toy or closing it or like
you know, taking something to putit in somewhere else, and she literally
is like nope, I am Likeshe holds onto the saddle, she gets

(01:11:10):
right on, and she's like I'mon horse. Yeah, literally riding horse,
Like, don't even try to getme to do that. But there's
so many ways just just on thehorse to work on, you know,
all those things that they plan toso and just the smile. I mean,
she gets in there, she grabsthis purple helmet that she decided from
day one is going to be herhelmet. So she gets this purple helmet,

(01:11:30):
we put it on her, Imean, and she is literally at
the door, like at the handle, like I mean, she couldn't get
in there fast enough. She goesright up the steps and she is just
ready to just launch herself onto thishorse the second we get there. Yeah,
and just smiles the whole time,the whole time. She loves that.
And then water two, she lovesto swim. She's like a little

(01:11:54):
fish. She did some swim therapy. We've kind of gone back and forth
between it, but she, youknow, it just I think it just
takes any pressure off of her body. So she just doesn't you know,
she has such low muscle tone andsuch like hyper mobile joints that this just
feels so good to her on herand she just loves it. So yeah,

(01:12:15):
there's we you know, we dosome local and then there's actually one
that's in Jacksonville, Florida that wewould love to take her to sometime and
that's a week long thing and shespends like two hours in the pool.
Oh cool, And it'll just bereally cool because we know that will be
something that she also won't really realizeis a lot of work. It's going

(01:12:36):
to be all fun for her,but I think we'll see some great benefits
from that as well. Oh that'sawesome. That's awesome. Well, hopefully
we can help make some of thathappen. And I so if you're listening
and you haven't already and we're stillin May, you make sure you go
to the website and support Ellie throughthe purchase of a T shirt or a

(01:12:57):
hat. Or a tank top.Summer's coming up, so tank top would
be good choice. And so weare so grateful, Taylor that you have
shared your daughter with us and yourfamily. We're so happy to be able
to shout love for her in Mayand I appreciate it takes uh. I
never It's never lost on me thatstrangers will just hop on and and be

(01:13:19):
vulnerable enough to have these conversations withus and and let us kind of help
introduce their child to the world inthe you know, the small corner of
the world that we can at leastwe have an audience for. And so
I know that your story, Ellie'sstory is going to be a blessing to
those that listen. And so thankyou so much for joining me and uh,

(01:13:41):
we are really grateful. And it'samazing to hear just all the characteristics
that you've used to describe Ellie andher personality. I want to hang out
with her, and I want towant I'm not a big horse person,
but I would. I would gohorseback like I have. You know,
I'd follow her. I'll show you, I'll show you how to do it.

(01:14:04):
Oh that's so awesome. Well,thank you so much for your time
thank you so much and we're lookingforward to continue to shout love for her
all month though yes, I thankyou so much. At go shout Love,
we do amazing things for amazing familieswith kids on rare medical journeys.
Each month we shout love for familiesthrough the sale of creative apparel inspired by

(01:14:26):
the kids. This month's catch yourBreath and Look Around design is inspired by
Ellie, a determined, silly andresilient girl from New Hampshire who loves her
family, school, music, anddancing. Every purchase in May will go
to help with the costs for hippotherapyand swim therapy for Ellie that are not
covered by insurance. Visit our websiteat go shout dot Love to support Ellie

(01:14:50):
through the purchase of a T shirt, hat, tank or other items m