February 5, 2023 • 40 mins
Jessica and her husband, Nick, were informed of Mia’s Glanzmann Thrombasthenia diagnosis when Mia was just four months old. Now, two years after that diagnosis, Jessica is her daughter’s biggest advocate and is determined to spread awareness and education throughout her community.
Join us with special guest host Glanzmann’s Research Foundation’s secretary, Melissa Zdziarski, as we speak with Jessica about navigating through a GT diagnosis for her daughter, Mia.
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Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
Taylor Anne Burtz (00:00):
Hi everybody.
Welcome back to Bruised NotBroken: Life with Glanzmann's
Thrombasthenia.
I am Taylor, your host, andPeter Zdziarski is our producer.
Peter Zdziarski (00:11):
Hey guys.
Taylor Anne Burtz (00:12):
He was on last month.
So you heard a little bit moreabout him.
And we actually have his mom,Missy with us today.
She is actually going to co-hostbecause we have a very special
guest.
Our guest is Jessica, and I'mgoing to let her introduce
herself and just kind of tellyou a little bit about her as a
person.
Jessica Varacalli (00:31):
I appreciate you guys considering me to be on
this.
This is amazing and I'm happy tobe able to chat about GT today.
My name's Jessica Varacalli.
I live in Windsor, Ontario withmy husband and my daughter.
Mia is gonna be two and a halfin a few weeks, and she's
diagnosed with Glanzmann'sThrombasthenia locally I work as
a crisis worker.
And on my off time you can findme watching some reality TV
Taylor Anne Burtz (00:53):
Mia is one of our youngest.
People in the community.
And then we have Peter who is inhis thirties.
So Missy, actually has a reallycool outlook because it's been
such a long time between thepast 29 years.
Medically things have advanced,GT's a little bit more aware.
(01:13):
So things have changed and so wereally just thought that having
Missy on to kind of, comparewhat it was like with Peter kind
of growing up and then what theprotocol is these days too.
Melissa Zdziarski (01:26):
I'm happy to be here.
Taylor Anne Burtz (01:27):
Mia is two and a half.
How did y'all come to adiagnosis?
Jessica Varacalli (01:31):
When Mia was born from the base of her neck
to above, like her bum she had apetechia or pinpoint bruising
all over her back now she wasoverdue and I was actively in
labor for 17 hours, but shecouldn't get into the birth
canal.
So they had presumed it was justrelated to kind of that type of
trauma.
In October.
There was an incident where shehad her hand in her mouth and
she accidentally kind of cut hergum a little bit and she bled
(01:54):
for close to four hours.
So that was our kind of like,trigger point to, okay, we're
gonna make another appointmentcuz that doesn't seem right.
So from there we made anappointment to the doctor and
she had suggested some follow uptesting.
Everything again came back fine.
So she referred us to apediatrician.
The pediatrician at firstsuspected that it was Von
Willebrand, which I know withinthe GT community's a common you
(02:16):
know, first suspected diagnosis.
Then we were referred to anotherpediatrician and once her
results came back that her vonWillebrand was fine, that's not
what the diagnosis was.
He suspected that it may be aplatelet function disorder.
So locally here in Windsor wherewe live we don't have the
ability to test for that.
So the closest Kind of area isin London, which is about two
(02:37):
hours away from where we live.
So we referred to the bleedingdisorders program there and
thankfully we're able to get inpretty quickly.
And on December 22nd she went upgot blood drawn at that time cuz
she was four and a half months.
They didn't want to test for allof the platelet function
disorders cuz it requires a lotof vials of blood.
And she was already a difficultpoke.
So they really only tested forthe two most rare and severe
(03:00):
ones including GT.
They very promptly knew that itwas given that she's type one
and there was just no evidenceof any glycoprotein in the blood
sample that they took.
Taylor Anne Burtz (03:11):
What was that phone call like?
Jessica Varacalli (03:12):
So I just remember grabbing a random piece
of paper and just trying to jotdown, you know, everything that
he was saying.
And bless his heart, we love ourhematologist.
He's great, but so he was tryingto be, as you know Layperson
terms as possible, but I'm like,I don't even know what I'm
writing, if that's the correct,like spelling.
I remember just trying to absorbwhat he was saying and he kind
of said, you know, we'll set upa phone consultation in a few
(03:34):
weeks.
We'll send you some informationabout it in the meantime.
Because it was in the midst ofcovid, we couldn't meet with
them in person.
And we were just going intoanother lockdown mode where all
outpatient services were beingclosed.
So we got in actually just rightat the end of that.
Had, we had to wait another weekfor her to get her blood test,
it could have been severalmonths before we knew her
(03:54):
diagnosis.
Taylor Anne Burtz (03:54):
I completely forgot that the other layer of
this being the pandemic was onthis too.
Jessica Varacalli (04:00):
We were just entering into 2021 at that point
in time.
And so I remember hanging up thephone and my husband was
actually on his way justnaturally home for lunch from
work, and I was just, at first,stunned.
Mia's sitting over there playingon her play mat and I just
looked at her and I just startedbawling because I'm like, what
just happened?
Like our world was just rocked.
And then I immediately hopped onGoogle cuz that's how I am And
(04:23):
was like, I gotta find outeverything there is to know
about this.
Taylor Anne Burtz (04:28):
What was that Google search like?
Jessica Varacalli (04:29):
Crazy.
Think to be really blunt andhonest, the first thing, which
my mind jumped like eons.
I mean, at the time she's fourand a half months was, oh my
goodness, is she ever gonna beable to be pregnant and have a
baby?
Is that ever gonna be an optionfor her?
That's literally where I wenthaving a baby girl.
Taylor Anne Burtz (04:45):
That's a pretty normal reaction.
My own mom kind of had a verysimilar reaction to that.
She did the same thing where itwas.
Okay.
What's puberty gonna look like?
Jessica Varacalli (04:54):
All of a sudden I'm like, it's a four and
a half month old.
Right.
Yeah.
I jumped to like, what's kind ofthe future gonna look like
because you know, I kind ofchuckled when he was like, well,
she can't play competitivesports.
That one wasn't as hard of ablow, it was just more of,
what's life gonna be like forher and how are we gonna, manage
it?
And from the get-go, it waslike, I really wanted her to
lead as normal of a life as wepossibly could.
Taylor Anne Burtz (05:14):
Now when she first got her diagnosis what was
kind of the plan?
What was your hematologist'splan?
Did he want her to come back in?
What did he want y'all to kindof look.
for or just plan in general?
Jessica Varacalli (05:26):
So we were quite immediately mailed a
factor first card.
Basically it's a wallet cardthat you carry with you and it
has kind of the treatment planbroken down.
So the diagnosis what to do fora mild, moderate severe bleed.
So for Mia's plan, and this partstill remains true anytime we
present to, the ER for amoderate or above bleed she
needs her here in Canada, it'scalled NiaStase.
(05:47):
I know a lot of people will knowit as Novo seven.
But she needs that every twohours for at least a minimum of
three doses.
And then we reassess at thattime whether we require
admission or additional doses orif we're able to have stabilized
the bleed.
Taylor Anne Burtz (06:01):
So with her plan, even from day one after
her diagnosis, it was okay.
When she has a bleed, the firstthing we're gonna do is we're
going to administer thismedication.
Jessica Varacalli (06:10):
She was also at that time prescribed
tranexamic acid that we wouldhave a prescription of at home.
And that was for if she washaving kind of more of a mild
bleed that didn't require us toattend er.
So our guideline for that was ifshe has kind of some minor
bleeding from.
Typically like the mouth or nosearea that we could administer
that mixed with some liquid.
And then if within 30 minutesthings didn't stabilize or slow
(06:34):
then we would call the on-callpediatric hematologist in London
and consult with them directlyto see is this something that we
need to pursue attending er for,or can we continue to monitor
from home and, you know, whatshould we be looking for
Taylor Anne Burtz (06:47):
The diagnosis of GT is huge.
I mean, it's a very scarydiagnosis to get because of the
severity behind it.
And then you hear that it'slifelong, it's, genetic, it's
passed down, it's so rare andall of this, there's, basically
everything that you hear aboutit as it gets added on, you're
like, oh my gosh, okay, this isgoing to be a lot.
So Mia was four and a halfmonths when she was diagnosed.
(07:10):
You've got a brand new baby.
Did you have a good supportsystem?
Family, friends, what was thatlike?
Jessica Varacalli (07:17):
We are so, so grateful and, and continue to be
very, very grateful for thesupport system we have.
We have amazing family supportsfriends over time, even just
community, complete strangerswho have, you know reached out
and heard of, Mia's conditionand helped to raise awareness or
help our family in various ways.
Like we've been definitely.
Blessed in that regard.
Taylor Anne Burtz (07:37):
I love hearing about like the community
itself getting together too.
Now you obviously found us.
When did you find our community?
Jessica Varacalli (07:46):
And so Mia had just gone diagnosed and I
was talking to my cousin, andshe was saying it would be so
cool if there was, is there asupport group or something out
there?
And I'm like I don't know.
this thing's one in a million,Mandy.
I doubt it.
and she's well, did you look onFacebook?
And I swear to God, I neverwould've.
Typed it in a search bar had shenot kind of mentioned the idea.
And lo and behold, I found youlovely guys.
(08:06):
And I was like, wow, it doesexist And it's been obviously
amazing since then.
It's so nice to be able to talkto people who have gone through
it and all those differentexperiences and across the world
Mia's Bleeding Disorder team,they're super invested and
excited about you guys.
I talk about you often andreference you guys and because
they're so great, they often asklike, Hey, has anybody in the
(08:27):
group, mentioned somethingoutside of the box about this?
Taylor Anne Burtz (08:29):
That's.
Amazing that you have a teamlike that.
You found us in like the springof 21, I think.
Jessica Varacalli (08:35):
Yeah.
I think it was probably aroundthe first time she was admitted
Taylor Anne Burtz (08:41):
Well, I know for a fact that you stood out to
me, and I know that you stoodout to Missy as well, because
just immediately, like as soonas you joined the group, you
introduced yourself.
You gave back as well You stoodout from the very beginning.
It takes a ton of strength and Ithink that's one of the things
(09:01):
that really stood out to us wasyour passion.
I remember Missy being like,Hey, have you heard about this
little girl, Mia Then Mia had onRare Disease Day, this amazing
onesie.
We love that so much.
You know, our logo is somethingthat Peter himself designed, so
I've got probably 20 articles ofclothing with the logo on it it
(09:23):
stands out and it shows thatyou, by example, you're showing
that you can be an advocate.
Did you just say?
You know what?
No.
I'm going to be what she needs.
What drives that?
Jessica Varacalli (09:36):
Mia drives drives that for sure.
She's my world and I think when,she got the diagnosis, I was
just trying to process it and ina way to try to, I guess in some
way gain control.
I just invested in, okay, I needto be as educated as possible
about everything related to thiscondition because it is so rare
and because I, she is so youngand I will have to be her voice
(09:58):
for, quite a period of time andbe the one to advocate for her
should.
Things not go the way they needto go.
So I felt empowered by justknowing more.
I remember even in that followup meeting with her team a few
weeks later, I had questionsabout, h l a matched platelets
and this, and they're like,we've never had a parent to like
come in with these questions.
I just, I need all theinformation now and I need to
(10:21):
know.
And when you're a parent, that'sthe the one thing you wanna do.
You wanna take your child's painaway, you wanna fix whatever you
can for them and, take that onyourself.
And I knew with this condition,I can't directly do that, but I
can, gain the education,understand it better, learn how
it's going to impact her andwhat's best for her as we
navigate it.
And that comes throughexperience as well.
(10:41):
But that's kind of what I took.
The other part is I was just, myhusband and I were just very
dedicated to, again,normalizing.
things for her as much aspossible.
I never wanted it to seem like aburden or a negative thing that
she is a person who is diagnosedwith gt.
I wanted it to be like anempowering thing for her.
(11:02):
A positive where it could beand, find a balance for her to,
participate in regular life.
Because it's definitelypossible.
It's just sometimes there'sexceptions of things that she
can or can't do.
And again, that's for safety.
It's not for, hindering her.
But there's just, certainthings, but that's, Honestly,
what makes has made Mia, Mia.
She is as many, describe her abig personality in a little
(11:26):
body.
Taylor Anne Burtz (11:26):
Now you are still with the same hematologist
that diagnosed her, correct?
Jessica Varacalli (11:31):
Absolutely, yes.
And he's young and we hope henever retires
Taylor Anne Burtz (11:34):
I mean, just from some things that you've
told me in the past when we'vespoken while Mia has a bleed or
anything.
They sound amazing.
They seem to kind of respectwhat you have to say.
They work with you.
Everything kind of goes by youfirst, Hey, what's your opinion
on this?
How does that feel, I guess,like, to, to be heard?
Jessica Varacalli (11:54):
Yeah.
It's so nice and I knowunfortunately, like I've seen
throughout the group, obviouslyeverybody has different
experiences and sometimesdepending on the area that
you're living in or, whateverthe circumstances you, are set
up with a team that maybe youdon't feel is adequately,
dealing with the concerns atbay.
And we've been so, so luckythat, they've always just been
very, very responsiveknowledgeable, but also
(12:17):
supportive.
And we've always felt at an evenplaying field, we've never felt
like I have utmost respect andtrust in Mia's team.
And I go to them for that whenneeded.
Of course.
And I trust their direction.
But it's vice versa.
We both feel that way.
The other piece to their herteam that I appreciate very much
is when they do come to checkin, which they go above and
(12:38):
beyond, but they check in notonly on mia, but myself and my
husband, and to see how we'redoing.
And they genuinely care about usas a family.
We have a lot of correspondence,through email phone in person.
And they've really gotten theextra mile for Mia.
Her hematologist is constantlyin consultation.
With hematologists across theworld, literally speaking to
(12:58):
people in Sweden, attendingconferences because Mia's one of
his only patients who has thecondition.
And so he really took the timeto educate himself and be there
and know what to do as well.
And he's learning and they'revery humble and very caring.
And you don't always get that
Taylor Anne Burtz (13:17):
I mean, you work in the medical field, so
you know, you see doctors everyday.
They're not on this likepedestal with you.
They're just normal people.
But growing up physician's,child and everything, like it's,
you see it as like doctors orpeople too type thing.
Jessica Varacalli (13:31):
Absolutely.
Taylor Anne Burtz (13:31):
I have always, gone to doctors who
either knew me, knew my sisterknew, knew my parents or
whatever.
Were friends with the family.
Because they have that personalconnection.
They care about you.
Well then, you get into thecommunity and stuff and you meet
people who they're like, well,my hematologist doesn't listen
to me.
And I just want to, let themknow like, hey, you want to find
(13:55):
a doctor who cares and whoconnects and who is invested in
you.
It is a service.
You're paying that service.
If you don't like yourhematologist, then let's find
you a different hematologist.
Jessica Varacalli (14:09):
Yeah, it's sometimes it's hard too though
because it's like you want asecond opinion and it's not
always readily available becauseI know even just within, we're
already going two hours away toreceive this specific service.
And for pediatric, like that'swho you have We didn't like'em,
we would've had to then goanother two hours away, like
four hours away to Toronto andhope that they would, accept a
referral if we wanted a secondopinion or something like that.
(14:31):
So it's hard when sometimes aselection is limited as well.
Taylor Anne Burtz (14:35):
There's very few hematologists that I know of
or hematology teams that I knowof who go above and beyond like
your team does.
And I know that Peter's was oneof them that I know of.
There's a team out in Californiathat I know of, and Julia's team
when she was younger, was thesame way.
But other than that, you justdon't really hear a whole lot
(14:56):
about it.
Jessica Varacalli (14:56):
Yeah, unfortunately you sometimes hear
obviously the opposite of just,I'm not quite feeling heard or
I, don't feel like they're,paying enough attention to my
concerns or, answering myquestions.
Cuz again, it's a complexcondition and it's rare and you
can do, research till you'reblue in the face.
But again, it's, a lot of stuff.
I feel like all at once I becamelike a, hematologist, a
geneticist, and I'm just tryingto be a new mom,
Taylor Anne Burtz (15:18):
Well, and your hematology team is kind of
learning along with y'all too,because again, it's something
that there's so littleliterature on that.
Okay.
Well, they're now taking notesfor if they ever have another GT
patient, you know?
Jessica Varacalli (15:32):
Yeah, they're phenomenal.
And, the tough part, and it'sgood, but we learn as we go
because I, at least in ourexperience, like every person's
experience with GT is soindividualized as well, right?
Yes.
Just because you can haveeverybody be oh, type one GT
category, but it doesn't meanthat you're on the same
trajectory, have the sameexperiences, hospitalizations,
level of bleeds, type of bleeds,so they're taking notes, but
(15:54):
it's also where like, He saidfrom the get go, like we just
we're learning from Mia eachtime.
This is what she tends torespond to.
And then, and that can shift tooover time as she grows.
And then we just continue tolearn and grow with her.
Taylor Anne Burtz (16:06):
Well so are they preparing, because you're
right in the thralls of the notfun years.
And now you're kind of, she'stwo and a.
you're really getting into thatage of like nose bleeds or gum
bleeds.
What is the plan now with nosebleeds?
She's too small for you reallyto be able to pack a nose bleed.
What exactly are y'all doing nowfor a nosebleed?
Jessica Varacalli (16:28):
Yeah, so it's, it's always ever changing.
Mia's primary has always beennosebleeds.
She's a professional in thenosebleed sector.
And it's gotten morechallenging.
She's very intelligent andinsightful in terms of, because
of her hospitalizations and ustrying to educate her the best
we can for her age about hercondition and things like that.
(16:49):
She does know, Nose bleeds.
She can identify if there's aclot in there.
She can also like tell us whather iv, now she has a port, but
when she got IV medication, whatit was for to help her nose
bleeds, but she's not quite atthe age where we can explain to
her.
Listen, if you let mommy applysome pressure to your nose it'll
help a little bit.
(17:10):
Or if you, just relax and, andsit here.
Run around the room while you'rebleeding it'll be helpful.
So we're in that kind of range.
Our most recent admission wasbecause unfortunately she had a
bleed the week before.
It was healing.
She had some crust, up in there.
And so of course she shoved herindex finger in her nose, right?
(17:31):
Cause it was itchy and that'snatural.
But then it caused a bleed,right?
So we're in that, that toughperiod right now with her.
But she has had quite a fewbouts of surgiflo.
I, I don't know if that's acommon term amongst it, but
essentially it's a kind of likethe e n t comes to just like
expands in there to block thenostril.
So they did do that mostrecently at her last admission.
(17:52):
She tends to sneeze it outunfortunately.
But it, but we do try it
Taylor Anne Burtz (17:56):
you're gonna hate me saying this they're not
putting it far enough in andthat, I like That sounds awful.
I'll have to show you a picturesometime of like Julia when cuz
she does her own nose packingnow.
Before it was the same thing.
So we did not have Novo sevenor, you know, NiaStase.
It was not approved.
What was not used at all so thatwas their, you know, they do
(18:19):
transexamic and Missy correct meif I'm wrong, y'all were kind of
the same way where it was thepacking that they used.
First off, always the one thatdisintegrates or dissolves over
time.
Having them having to like holdthem down.
It would bruise underneath,that's how high up.
Melissa Zdziarski (18:39):
Peter was put into a papoose.
I don't know if they still use apapoose in the ER for young ones
Jessica Varacalli (18:45):
They've burritoed her in multiple
blankets.
I have both my legs wrappedaround her.
I'm wrapped around multiplenurses, holding her and she
fights it cuz it'suncomfortable.
Taylor Anne Burtz (18:55):
Now are they using, is surgiflo dissolvable?
Is it supposed to dissolve overtime?
Jessica Varacalli (18:59):
Yes.
It doesn't have to be likesomething that's removed
physically.
She's only ever gotten thesurgiflo in terms of like
packing, so to speak.
Taylor Anne Burtz (19:07):
Have they tried where, like you do a quick
Afrin or a quick epinephrine andthen they pack it afterward?
Jessica Varacalli (19:14):
No, they have not.
Taylor Anne Burtz (19:16):
So I'm gonna recommend this and the only
reason why, the thing thatterrifies me and terrifies Missy
and terrifies Peter andterrifies Dr.
Wilcox, is the repeated, ongoinguse of recombinant factor seven
a.
we don't know the long-termeffects.
Jessica Varacalli (19:35):
Right.
And Mia's had, I will tell youright now, right?
Well over 300 doses we have anapp that we track.
Taylor Anne Burtz (19:42):
You are in the medical field.
So you know, like the more youuse a medicine, the more likely
that the efficacy is going tonot be as much.
And this is just kind of how, mygeneration, how Missy learned
and everything was cuz you justdidn't have that option.
Right?
So that's where we're okay, packit you're also getting into that
age now where she's getting alittle bit older.
(20:05):
And so even if you are doingthat medication, It only lasts
for however long you'readministering it.
And in the nose.
Like she's at that age whereshe's running around, she's
playing or whatever.
Any type of clot that she couldhave potentially built while she
was on that medicine.
Jessica Varacalli (20:21):
Well that's what we joke about.
She always has our phases of theadmission.
Cuz then it's like, okay, yeah,we're bracing for the sneeze And
then yeah, bracing for thedislodge of the, the surgiflo.
Taylor Anne Burtz (20:31):
So this last one was a posterior nose bleed
and you said that before whenthey went in, it's been pretty
much the same bleed
Jessica Varacalli (20:39):
We suspect like that It is.
I mean, it may be from differentlocations.
But she has been consistentlybleeding like since about June
of last year.
We're at 21 admissions and 12 ofthose have been in since July,
Taylor Anne Burtz (20:54):
When they went in and they didn't see
anything, I mean, I can sayhopefully I know that this is
the case with some things orwith some doctors, at least
they've gone in once now, sohopefully it won't be as
difficult to get them to go inagain.
Now Missy with Peter, when hehad nosebleeds and everything at
that age, again, Novo seven itwasn't f d A approved.
I don't even think, did itexist?
Melissa Zdziarski (21:14):
That's a good question.
I think we'd have to do someresearch to figure, to clarify
we were prescribed Amicar 30years ago.
I think that's what we had inthe US at that point.
I don't think we had tranexamicacid.
Amicar was the medication thatcaused the stomach upset and the
queasiness.
If you're trying to slow down ableed and, and create a clot and
he's throwing up because he wasqueasy with it.
It just didn't seem to makesense.
(21:35):
We were able to have tranexamicacid prepared by a compound
pharmacy.
And we did try that, but thattook a lot of creative figuring
out to get that made even.
But our go-to when he when hehad a gusher, we would start
with slowing it down withpressure.
So, You know, we'd have toconvince him to sit still, which
wasn't easy.
But back then we had Barney, Idon't if anybody who remembers
(21:57):
Barney, getting him you know,preoccupied with something else
while we were doing it.
And he, he was pretty patientcuz it was unpleasant to take
Amicar and have a nose bleed andhe wanted it to stop just as
much as we did.
We would try pressure and thenas soon as we got it slowed
down, we would use Afrin, whichconstricts, the vessels to
hopefully.
Close things off a little bit.
(22:18):
And we would start on Amicarand, kind of wait it out and it
would be a gusher if itcontinued after pressure and
Amicar and having him meet aPopsicle and, keeping him quiet,
then we would head off to the erand it would mean getting out
the backboard with the wraps, itwas called a papoose at that
time.
So he would cry and he wouldscream, which would cause a tiki
(22:40):
eye around his eyes.
And they would pack it and wewould leave.
And back then they didn't startout with the surgicel, the stuff
that would dissolve.
They used like a long strip ofgauze that was coded in like a
bacitracin.
So it would go up easy and comeout very easy, it was lubricated
and they would leave it in.
(23:01):
Probably 48 hours and they wouldput'em on an antibiotic cuz
leaving a packing in that long,there's a chance of a sinus
infection of causing you somebacteria in there.
And then we would take it out afew days later and, cross our
fingers and hope for the bestand go from there.
So, we didn't have the Novaseven.
There wasn't that option.
Jessica Varacalli (23:20):
So it says for the prevention of bleeding
and surgical interventions orinvasive procedures in patients
with hemophilia.
Taylor Anne Burtz (23:27):
I think that that was when it was starting to
be like mainly off-label use ingt.
Right.
Because it was off-label use foryears.
Right.
And that was one of the reasonswhy it was so difficult for
people to get their hands on fora really long time.
Melissa Zdziarski (23:39):
When did your mom start the support group?
What year?
Taylor Anne Burtz (23:42):
The foundation was started in 2001.
Melissa Zdziarski (23:45):
I'm trying to remember.
You know, being on that, thatmessage board that was part of
the website at the time.
Trying to think back.
It's too bad we can't accessthat, cuz I'd love to look back
and see when we first heard ofNovo seven, maybe it was
mentioned on that board and whothe first GT patient was that
used it
Taylor Anne Burtz (24:02):
all I remember is that it was
something that my dad wasfamiliar with because it's used
in burn patients a lot.
So I think it was something thatlike he had kind of heard about
pretty, pretty early on and thenit kind of took off from there
where it was brought up more andmore within the group.
(24:23):
Again, because it was somethingthat nobody knew of.
I always like find it funny cuzI say like our generation or
whatever, but it like thatinitial smaller like group that
was connected was very waryabout using it because the last
thing that everybody had talkedabout was like, oh, use
(24:45):
platelets, use platelets, useplatelets.
But we had older people withinthe group who were like,
absolutely not.
No, no platelets.
No platelets at all because wehave all of these antibodies and
now it takes us 72 hours to getplatelets if we need them.
So then now when it was like,okay, well we've got this great
(25:05):
medicine that works and all ofthis.
Everybody's kind of going inwith that same mindset where
it's like, okay, hold on.
Like, how long does it work forus
Melissa Zdziarski (25:13):
so we should clarify.
It took so many two hours to getplatelets because they had to be
matched.
Jessica Varacalli (25:18):
I will say, just in comparison given that so
Mia's had platelet.
Twice now for the first time,kind of in the last month only
cuz she had her port, port in,so that was HLA match.
But here in Canada, like thattook over three weeks
Taylor Anne Burtz (25:33):
see that's scary to me
Jessica Varacalli (25:34):
If it was an emergent situation, I think that
they probably may have been ableto get it quicker, but it
definitely wouldn't have beenthat quick.
I'll tell you that.
So and then she eventually lastadmission had to have unmatched
platelets just cuz of her drop.
But we've avoided it this long.
There's been times where we werelike, right, ready?
Like I've actually signedconsent and then they finally
like, you know what, okay, it'sslowing, we're just gonna hold
(25:56):
off.
We did make it, that far andthey do plan to do a, a blood
test just to make sure that shedidn't develop the antibodies,
Taylor Anne Burtz (26:03):
has she ever had filtered red cells instead
of
Jessica Varacalli (26:07):
she like in terms of a, like a blood
transfusion?
Yes.
She's had now required threeblood transfusions.
Taylor Anne Burtz (26:14):
Cuz that's something I don't know.
I try not to put this out thereall the time and everything just
cuz it's my sister and she's soprivate she has never ever had a
platelet transfusion.
when I tell you that my mom wasanti-platelets, like she was,
there was absolutely noquestioning her stance on it.
(26:36):
Whereas like now it's kind oflike, okay, yes, platelets bad,
but at the same time, like ifthat's your, if that's your
go-to, I never want anybody tohesitate, where like, Mia got
down to 4.8.
Jessica Varacalli (26:51):
And I will say that like her, her team has
always held the stance.
Like we know that right now, ifwe give our platelets, things
will be stabilized, there's beentimes where they're like, but
we're just gonna keep you inhospital for a few more days.
Yeah.
And if we get to that point, weget to that point.
So they've been very, veryconservative.
When her hematologist came inand was like, I think we gotta
throw on the towel I hate to doit because we've tried to avoid
(27:13):
so much of, of everything.
But he knew it was, just kind ofrequired.
Taylor Anne Burtz (27:18):
Which is great because I think Missy,
y'all didn't really haveplatelets thrown at you too
much, did you?
Melissa Zdziarski (27:23):
I think we did.
I think that's all we had.
Platelets were never suggestedfor nosebleeds.
I should clarify.
When Peter was learning how towalk, he, fell and he, hit his
head and they monitored it veryclosely for a couple of days.
They draw the little circlearound it with the sharpie
marker and watch it expand andexpand.
And, and it got to a point whereit was like, okay, we need to do
some platelets.
They were HLA matched.
(27:44):
And he once needed them for a GIbleed when he was a little
kiddo.
And then also he had them for anelbow surgery and when he had
his wisdom teeth removed, buteach time they were HLA matched.
So we were lucky enough to havea hematologist that, was very
aware enough and also for thesurgeries they were scheduled so
they had time to get them.
It wasn't an emergencysituation, but he's never had
(28:06):
Novo seven
Taylor Anne Burtz (28:06):
If Julia's had it, I think she's maybe had
it once or twice.
Insurance companies here in theUS are starting to and we just
actually just just saw thispersonally, but Novo seven now,
the on-label used for Novo sevenwith GT is after platelets and
if platelets don't work.
So just recently, my sister's atthat age where she's making her
(28:28):
medical decisions on her own andeverything.
And so I remember, she had askedfor some Nova seven, she'd been
having a really bad posteriornose bleed.
And so she was in the emergencyroom, they called her
hematologist, told him that youknow, hey, she wants to try son
Nova seven.
And he goes, no.
And she was like, okay.
(28:48):
and he's like, well, insurancewon't, won't approve it right
now unless she has plateletsfirst.
It was like one of those kind ofwhere we were, kind of shocked.
We were like, okay all right.
And she's like, well, I guessI'll be fine.
Jessica Varacalli (29:02):
And that's where it's so crazy the
difference between likecountries, right?
Like mm-hmm.
But we have at any time, likeany given time, we need 12
doses.
We keep at home
Taylor Anne Burtz (29:12):
There are people here who do the same
exact thing.
And I will say like, it used toget approved very easily.
We're just kind of starting tosee where it's not being
approved quite as easily.
But I also remember where itused to be like, oh, who has
Novo seven?
Can you send me some Novo seven,it was one of those things where
people would have it at homebecause you could also
potentially where like thehospital wouldn't be able to get
(29:34):
it, or the hospital pharmacywouldn't be able to get it.
Melissa Zdziarski (29:36):
The hospital pharmacy didn't stock it.
I mean, if you're going to asmall hospital,
Taylor Anne Burtz (29:39):
I am glad that we have it now because it
does help with the, one of thethings that Missy kind of
brought up, The GI bleeds.
So Mia hasn't had a problem withthis yet, has she?
Jessica Varacalli (29:50):
Knock on wood.
She's had one incident where wewent to cuz she fell and her
bottom teeth punctured kind ofthe internal part of her mouth.
But aside from that, she has nothad any other you know, major
bleeds or anything like that.
Taylor Anne Burtz (30:01):
Missy I want you to talk us through the GI
bleed because I know Peter had abad GI bleed.
Julia had a bad GI bleed.
I'm pretty sure Emily had a badGI bleed.
Or you know, before they weresix.
I think that it's somethingthat, you get so, so used to
looking out for like a nosebleed or a gum bleed or
something.
(30:21):
Any younger parents or parentsof younger kids and everything,
I just kind of want you to gothrough like what to look for
with that, because those are thebleeds that can get very fast.
Melissa Zdziarski (30:33):
Well, in Peter's case, I don't know that
we ever proved it was exactly aGI lead because he he presented
by throwing up blood.
There wasn't like the, the darkcolored stool for a couple of
days.
He just came into our room onenight and threw up blood all
over the place.
And we panicked and we, okay, webring him to the the emergency
room, which is a small localemergency room, and his levels
(30:55):
were way low.
I don't even I blocked that allout.
I don't remember what it was,but we had to be, you know,
rushed by ambulance to a biggerhospital.
And they gave him the plateletsand he had to stay a few days,
but they never really determinedif it was a posterior nose
bleed.
So it wasn't coming out thefront, he was swallowing it and
that could have been why he wasthrowing up blood or if it was a
(31:17):
GI bleed.
They did put him under verybriefly to look in his nose.
We had a really good pediatric en t who put him under and looked
in his nose and said, well,there's no active bleeding right
now.
But I cannot say positively thatit wasn't before, So that was
our experience with the GIBleed.
We just really didn't know.
I think the doctors wrote it upas a GI bleed and insurance paid
(31:37):
for it as a GI bleed, but wewere never a hundred percent
sure.
Taylor Anne Burtz (31:41):
Yeah.
With ours, I think Julia waslike maybe five, and definitely
around that age.
But I do remember it was kind ofsimilar where she threw up
blood.
They kind of kept an eye on her.
She didn't throw blood againover the next couple of days,
they really started to see, shegot really sluggish, really
lethargic and everything.
Just doing like the simplechecks of like the, within the
(32:03):
eyelids looking at theircapillary response on the
fingers and everything.
And finally they were like,okay, well we need to take her
in.
We think something's going oninternally that we just don't
know about.
And so when they did get her inand everything, I want to say
that her hemoglobin was betweena four and a five.
That is the only time that myparents have ever considered
(32:24):
platelets.
Like just in that moment like,Hey, we're gonna do this.
And it was one of those thingswhere they were going to do the
HLA matched and they couldn'tget them immediately.
So what they were doing at thehospital and everything with the
red cells and all of that, ithappened to work and they were
able to get her hemoglobin upand so they decided against
(32:44):
using the platelets when theycame in.
But that is something that,again, like with little kids,
it's hard because.
They don't necessarily know whatthey're feeling.
They don't know like, Hey, Icould possibly have a bleed and
you're new to this too.
You seem to have a very good.
Grasp of Mia as a person.,
Jessica Varacalli (33:04):
She's still a toddler, But she will tell me
like, mummy, you know, blood'sgoing down my throat or my nose
is bleeding.
She will say, my nose isbleeding and I can't physically
see it.
And so then that's when we kindof try to figure out if it truly
is, or you know, if she's sayingit, which is normal, right.
But she will try to communicateor she'll say, I have a clad in
my nose.
Those types of things.
(33:25):
So she does have thatterminology that we've tried to
teach her.
And it's not always accurate cuzshe's a toddler.
Melissa Zdziarski (33:31):
Have you thought of some kind of therapy
for her as she gets a littleolder and can communicate better
just more as a talk it throughpreventative type of thing
before there are mental healthstuff,
Jessica Varacalli (33:42):
absolutely.
As a social worker myself, I'min, tunnel vision of medical
trauma And how it's impactedher.
In certain ways.
So we have you know, someservices in place, not
necessarily therapeutically, butto ensure safety at her daycare
and to be part of a team tosupport her in that way.
I've been reaching out to othercolleagues and, friends about
(34:03):
any resources in terms ofmedical trauma.
I'm not distinguishing that shehas it, but I know she's been in
hospital very often.
She's been in situations thathave been, concerning for her
and a lot of pokes and,different things.
And so I want her to be able to,to process that for sure.
So I'm absolutely open to, youknow, anything that she does end
(34:23):
up needing and I almost don'twanna force it on her as a
social worker, but also knowthat it's, it's in my mind and,
and we try to, frame it as, asbest as we can with her.
Melissa Zdziarski (34:34):
Mia's really lucky to have you, she really
is.
A little girl with GT is luckyto have a mama like you.
Jessica Varacalli (34:39):
Aw, thank you.
Taylor Anne Burtz (34:41):
It sounds like you speak to her about
pretty much everything.
Like that's such a big thing.
Again, you know, on that mentalhealth thing, the fact that
you're a social worker as welland you're so open to it, it's
not necessarily something thatpeople think of right away,
especially with a child thatyoung.
So you mentioned earlier thatMia's slightly sassy.
(35:03):
We know this, I know this.
I know this because I absolutelyloved falling along the great
journey of Can we get Mia tosmile for a picture?
So tell me, tell me more aboutMia
Jessica Varacalli (35:15):
she's a ball of energy.
She is witty She is crafty She'supset right now because she just
learned how to Houdini out ofher bedroom like without making
noise on the monitor.
She's been in the hallway.
My husband's found her like whenhe's looked at the monitor.
So we put a child lock and nowshe's like, mama, I don't like
that doorknob, She goes, itdoesn't work, But I also
(35:38):
wouldn't put a past that she'sgonna figure out how it works
but no, she's a big personality.
Staff at the hospitals couldattest to it.
Like she'll be in there, blooddown her face, all over the, and
she'll just be laughing andplaying like she is so easy
going.
Okay.
And even when she had to get,you know, IVs put in, she'd be
very upset naturally.
(35:58):
But I always joked, I'm like,she's very forgiving.
The same nurse would come in andshe'd be like, hi, you know
welcoming them.
She's very demanding about hervitals, so it has to be a
certain armpit for hertemperature, a certain leg for
her blood pressure, and acertain toe for her.
O two stats.
She loves to do vitals.
She's very passionate aboutmedical.
(36:19):
I try to grasp at the, thepositives of, you know, her
being into hospital.
She does enjoy medical stuff.
So she has a lot of medical kitsand she has her own stethoscope
and she loves that.
Taylor Anne Burtz (36:30):
Just give her a few years.
She's gonna be that sassy kidwho, the nurse can't find a vein
and she's like, you want me toplace the iv?
Jessica Varacalli (36:37):
Now she knows cuz she has the port, right?
So she even says like, let meput it in.
And we have helped her she'llpush her own flush, mm-hmm.
she'll help to do her ownmedicine.
She wants to do her own, her ownnisas when they come around and
she tells them where to connectit.
So she, she's learned a lot.
Taylor Anne Burtz (36:53):
You have one of the youngest kids in the
community right now, so you kindof have that on hand experience
at the moment.
What would you say to a parentthat just received a diagnosis
for their child?
Jessica Varacalli (37:06):
First and foremost, take a deep breath.
which I know can be hard.
Your child can and very likelywill have a fulfilling life.
This doesn't define them, it'sjust a super unique part of who
they are.
Second tip, do your research.
Education about GT is a hugeasset, as you may likely need to
be an advocate for your childone day.
(37:27):
And many times you'll be theexpert in the room as many
medical professionals have noidea how to deal with gt.
Third, as much as researching isbeneficial, try to remember that
no GT cases play outidentically.
It's best to not compare orproject one person's experience
onto your own child.
(37:47):
It's easy to be fearful of whatis to come or expect the worst,
but try to remain in the presentmoment and just take it day by
day.
And finally, like many lifecircumstances, there's gonna be
highs and lows.
Hold on tight to those reallygood times.
And in the more challengingtimes, don't forget to give
yourself grace.
Reach out to your loved ones forsupport as some days can be
(38:10):
heavier than others, but you gotthis.
And for the days you feel youdon't, we have the GT group.
Melissa Zdziarski (38:17):
Hardest times tend to be the most.
Learning experiences, that'swhen you learn the most.
Well, to go through it in themoment, it's terrifying and it's
terrific.
Yeah.
But the knowledge that you gaineach time.
You get through one of these oneof these incidents.
Jessica Varacalli (38:32):
It's a silver lining of Yeah.
You know, sometimes admissions,because that's what her team
used to say is, you know, atleast we're learning more about
kind of how her GT is playingout right now.
And where she's at and, and whatwe can do differently.
And so you try to take fromthat.
Melissa Zdziarski (38:47):
I think sharing with the community,
everything that you learn is soimportant.
Taylor Anne Burtz (38:51):
And I wanna say like this community is very
lucky to have you.
It has been a very long timesince we have had a parent of a
small, small child be asforthcoming and, sharing and
just really putting it all outthere for the group.
You are helping a lot of people.
Jessica Varacalli (39:10):
Try to do it in a sensitive way?
Cuz again, I, I know everyone'sexperience is so different and
it's like, I never want tooffend anyone, so sometimes if
it's more specific informationI, you know, reach out
individually.
But I'm more than happy to,share in terms of Mia's
experience, like to help anybodyelse feel kind of comforted by
that.
Taylor Anne Burtz (39:27):
Well thank you so much for joining us.
Jessica Varacalli (39:30):
Thank you guys.
And it's so nice to meet you allkind of semi in person,
hopefully Fingers crossed inperson at the convention.
Taylor Anne Burtz (39:37):
For those of you who don't know, we will be
hosting our first.
Glanzmann's Research FoundationEducational Conference this
upcoming July 26th through July29th in Boston, Massachusetts.
You can find out more about theconference on our website at
www.curegt.org.
(39:57):
If you have GT or you are afamily member of someone with
gt, you can find our supportgroup on Facebook.
You can actually find thatthrough our website as well.
And we are currently fundraisingand looking for speakers for
this conference too.
(40:18):
We will be announcing more as weget closer and we are actively
working on just presenting thebest possible conference that we
can for our community.
Hi everybody.
Welcome back to Bruised NotBroken: Life with Glanzmann's
Thrombasthenia.
I am Taylor, your host, andPeter Zdziarski is our producer.
Peter Zdziarski (00:11):
Hey guys.
Taylor Anne Burtz (00:12):
He was on last month.
So you heard a little bit moreabout him.
And we actually have his mom,Missy with us today.
She is actually going to co-hostbecause we have a very special
guest.
Our guest is Jessica, and I'mgoing to let her introduce
herself and just kind of tellyou a little bit about her as a
person.
Jessica Varacalli (00:31):
I appreciate you guys considering me to be on
this.
This is amazing and I'm happy tobe able to chat about GT today.
My name's Jessica Varacalli.
I live in Windsor, Ontario withmy husband and my daughter.
Mia is gonna be two and a halfin a few weeks, and she's
diagnosed with Glanzmann'sThrombasthenia locally I work as
a crisis worker.
And on my off time you can findme watching some reality TV
Taylor Anne Burtz (00:53):
Mia is one of our youngest.
People in the community.
And then we have Peter who is inhis thirties.
So Missy, actually has a reallycool outlook because it's been
such a long time between thepast 29 years.
Medically things have advanced,GT's a little bit more aware.
(01:13):
So things have changed and so wereally just thought that having
Missy on to kind of, comparewhat it was like with Peter kind
of growing up and then what theprotocol is these days too.
Melissa Zdziarski (01:26):
I'm happy to be here.
Taylor Anne Burtz (01:27):
Mia is two and a half.
How did y'all come to adiagnosis?
Jessica Varacalli (01:31):
When Mia was born from the base of her neck
to above, like her bum she had apetechia or pinpoint bruising
all over her back now she wasoverdue and I was actively in
labor for 17 hours, but shecouldn't get into the birth
canal.
So they had presumed it was justrelated to kind of that type of
trauma.
In October.
There was an incident where shehad her hand in her mouth and
she accidentally kind of cut hergum a little bit and she bled
(01:54):
for close to four hours.
So that was our kind of like,trigger point to, okay, we're
gonna make another appointmentcuz that doesn't seem right.
So from there we made anappointment to the doctor and
she had suggested some follow uptesting.
Everything again came back fine.
So she referred us to apediatrician.
The pediatrician at firstsuspected that it was Von
Willebrand, which I know withinthe GT community's a common you
(02:16):
know, first suspected diagnosis.
Then we were referred to anotherpediatrician and once her
results came back that her vonWillebrand was fine, that's not
what the diagnosis was.
He suspected that it may be aplatelet function disorder.
So locally here in Windsor wherewe live we don't have the
ability to test for that.
So the closest Kind of area isin London, which is about two
(02:37):
hours away from where we live.
So we referred to the bleedingdisorders program there and
thankfully we're able to get inpretty quickly.
And on December 22nd she went upgot blood drawn at that time cuz
she was four and a half months.
They didn't want to test for allof the platelet function
disorders cuz it requires a lotof vials of blood.
And she was already a difficultpoke.
So they really only tested forthe two most rare and severe
(03:00):
ones including GT.
They very promptly knew that itwas given that she's type one
and there was just no evidenceof any glycoprotein in the blood
sample that they took.
Taylor Anne Burtz (03:11):
What was that phone call like?
Jessica Varacalli (03:12):
So I just remember grabbing a random piece
of paper and just trying to jotdown, you know, everything that
he was saying.
And bless his heart, we love ourhematologist.
He's great, but so he was tryingto be, as you know Layperson
terms as possible, but I'm like,I don't even know what I'm
writing, if that's the correct,like spelling.
I remember just trying to absorbwhat he was saying and he kind
of said, you know, we'll set upa phone consultation in a few
(03:34):
weeks.
We'll send you some informationabout it in the meantime.
Because it was in the midst ofcovid, we couldn't meet with
them in person.
And we were just going intoanother lockdown mode where all
outpatient services were beingclosed.
So we got in actually just rightat the end of that.
Had, we had to wait another weekfor her to get her blood test,
it could have been severalmonths before we knew her
(03:54):
diagnosis.
Taylor Anne Burtz (03:54):
I completely forgot that the other layer of
this being the pandemic was onthis too.
Jessica Varacalli (04:00):
We were just entering into 2021 at that point
in time.
And so I remember hanging up thephone and my husband was
actually on his way justnaturally home for lunch from
work, and I was just, at first,stunned.
Mia's sitting over there playingon her play mat and I just
looked at her and I just startedbawling because I'm like, what
just happened?
Like our world was just rocked.
And then I immediately hopped onGoogle cuz that's how I am And
(04:23):
was like, I gotta find outeverything there is to know
about this.
Taylor Anne Burtz (04:28):
What was that Google search like?
Jessica Varacalli (04:29):
Crazy.
Think to be really blunt andhonest, the first thing, which
my mind jumped like eons.
I mean, at the time she's fourand a half months was, oh my
goodness, is she ever gonna beable to be pregnant and have a
baby?
Is that ever gonna be an optionfor her?
That's literally where I wenthaving a baby girl.
Taylor Anne Burtz (04:45):
That's a pretty normal reaction.
My own mom kind of had a verysimilar reaction to that.
She did the same thing where itwas.
Okay.
What's puberty gonna look like?
Jessica Varacalli (04:54):
All of a sudden I'm like, it's a four and
a half month old.
Right.
Yeah.
I jumped to like, what's kind ofthe future gonna look like
because you know, I kind ofchuckled when he was like, well,
she can't play competitivesports.
That one wasn't as hard of ablow, it was just more of,
what's life gonna be like forher and how are we gonna, manage
it?
And from the get-go, it waslike, I really wanted her to
lead as normal of a life as wepossibly could.
Taylor Anne Burtz (05:14):
Now when she first got her diagnosis what was
kind of the plan?
What was your hematologist'splan?
Did he want her to come back in?
What did he want y'all to kindof look.
for or just plan in general?
Jessica Varacalli (05:26):
So we were quite immediately mailed a
factor first card.
Basically it's a wallet cardthat you carry with you and it
has kind of the treatment planbroken down.
So the diagnosis what to do fora mild, moderate severe bleed.
So for Mia's plan, and this partstill remains true anytime we
present to, the ER for amoderate or above bleed she
needs her here in Canada, it'scalled NiaStase.
(05:47):
I know a lot of people will knowit as Novo seven.
But she needs that every twohours for at least a minimum of
three doses.
And then we reassess at thattime whether we require
admission or additional doses orif we're able to have stabilized
the bleed.
Taylor Anne Burtz (06:01):
So with her plan, even from day one after
her diagnosis, it was okay.
When she has a bleed, the firstthing we're gonna do is we're
going to administer thismedication.
Jessica Varacalli (06:10):
She was also at that time prescribed
tranexamic acid that we wouldhave a prescription of at home.
And that was for if she washaving kind of more of a mild
bleed that didn't require us toattend er.
So our guideline for that was ifshe has kind of some minor
bleeding from.
Typically like the mouth or nosearea that we could administer
that mixed with some liquid.
And then if within 30 minutesthings didn't stabilize or slow
(06:34):
then we would call the on-callpediatric hematologist in London
and consult with them directlyto see is this something that we
need to pursue attending er for,or can we continue to monitor
from home and, you know, whatshould we be looking for
Taylor Anne Burtz (06:47):
The diagnosis of GT is huge.
I mean, it's a very scarydiagnosis to get because of the
severity behind it.
And then you hear that it'slifelong, it's, genetic, it's
passed down, it's so rare andall of this, there's, basically
everything that you hear aboutit as it gets added on, you're
like, oh my gosh, okay, this isgoing to be a lot.
So Mia was four and a halfmonths when she was diagnosed.
(07:10):
You've got a brand new baby.
Did you have a good supportsystem?
Family, friends, what was thatlike?
Jessica Varacalli (07:17):
We are so, so grateful and, and continue to be
very, very grateful for thesupport system we have.
We have amazing family supportsfriends over time, even just
community, complete strangerswho have, you know reached out
and heard of, Mia's conditionand helped to raise awareness or
help our family in various ways.
Like we've been definitely.
Blessed in that regard.
Taylor Anne Burtz (07:37):
I love hearing about like the community
itself getting together too.
Now you obviously found us.
When did you find our community?
Jessica Varacalli (07:46):
And so Mia had just gone diagnosed and I
was talking to my cousin, andshe was saying it would be so
cool if there was, is there asupport group or something out
there?
And I'm like I don't know.
this thing's one in a million,Mandy.
I doubt it.
and she's well, did you look onFacebook?
And I swear to God, I neverwould've.
Typed it in a search bar had shenot kind of mentioned the idea.
And lo and behold, I found youlovely guys.
(08:06):
And I was like, wow, it doesexist And it's been obviously
amazing since then.
It's so nice to be able to talkto people who have gone through
it and all those differentexperiences and across the world
Mia's Bleeding Disorder team,they're super invested and
excited about you guys.
I talk about you often andreference you guys and because
they're so great, they often asklike, Hey, has anybody in the
(08:27):
group, mentioned somethingoutside of the box about this?
Taylor Anne Burtz (08:29):
That's.
Amazing that you have a teamlike that.
You found us in like the springof 21, I think.
Jessica Varacalli (08:35):
Yeah.
I think it was probably aroundthe first time she was admitted
Taylor Anne Burtz (08:41):
Well, I know for a fact that you stood out to
me, and I know that you stoodout to Missy as well, because
just immediately, like as soonas you joined the group, you
introduced yourself.
You gave back as well You stoodout from the very beginning.
It takes a ton of strength and Ithink that's one of the things
(09:01):
that really stood out to us wasyour passion.
I remember Missy being like,Hey, have you heard about this
little girl, Mia Then Mia had onRare Disease Day, this amazing
onesie.
We love that so much.
You know, our logo is somethingthat Peter himself designed, so
I've got probably 20 articles ofclothing with the logo on it it
(09:23):
stands out and it shows thatyou, by example, you're showing
that you can be an advocate.
Did you just say?
You know what?
No.
I'm going to be what she needs.
What drives that?
Jessica Varacalli (09:36):
Mia drives drives that for sure.
She's my world and I think when,she got the diagnosis, I was
just trying to process it and ina way to try to, I guess in some
way gain control.
I just invested in, okay, I needto be as educated as possible
about everything related to thiscondition because it is so rare
and because I, she is so youngand I will have to be her voice
(09:58):
for, quite a period of time andbe the one to advocate for her
should.
Things not go the way they needto go.
So I felt empowered by justknowing more.
I remember even in that followup meeting with her team a few
weeks later, I had questionsabout, h l a matched platelets
and this, and they're like,we've never had a parent to like
come in with these questions.
I just, I need all theinformation now and I need to
(10:21):
know.
And when you're a parent, that'sthe the one thing you wanna do.
You wanna take your child's painaway, you wanna fix whatever you
can for them and, take that onyourself.
And I knew with this condition,I can't directly do that, but I
can, gain the education,understand it better, learn how
it's going to impact her andwhat's best for her as we
navigate it.
And that comes throughexperience as well.
(10:41):
But that's kind of what I took.
The other part is I was just, myhusband and I were just very
dedicated to, again,normalizing.
things for her as much aspossible.
I never wanted it to seem like aburden or a negative thing that
she is a person who is diagnosedwith gt.
I wanted it to be like anempowering thing for her.
(11:02):
A positive where it could beand, find a balance for her to,
participate in regular life.
Because it's definitelypossible.
It's just sometimes there'sexceptions of things that she
can or can't do.
And again, that's for safety.
It's not for, hindering her.
But there's just, certainthings, but that's, Honestly,
what makes has made Mia, Mia.
She is as many, describe her abig personality in a little
(11:26):
body.
Taylor Anne Burtz (11:26):
Now you are still with the same hematologist
that diagnosed her, correct?
Jessica Varacalli (11:31):
Absolutely, yes.
And he's young and we hope henever retires
Taylor Anne Burtz (11:34):
I mean, just from some things that you've
told me in the past when we'vespoken while Mia has a bleed or
anything.
They sound amazing.
They seem to kind of respectwhat you have to say.
They work with you.
Everything kind of goes by youfirst, Hey, what's your opinion
on this?
How does that feel, I guess,like, to, to be heard?
Jessica Varacalli (11:54):
Yeah.
It's so nice and I knowunfortunately, like I've seen
throughout the group, obviouslyeverybody has different
experiences and sometimesdepending on the area that
you're living in or, whateverthe circumstances you, are set
up with a team that maybe youdon't feel is adequately,
dealing with the concerns atbay.
And we've been so, so luckythat, they've always just been
very, very responsiveknowledgeable, but also
(12:17):
supportive.
And we've always felt at an evenplaying field, we've never felt
like I have utmost respect andtrust in Mia's team.
And I go to them for that whenneeded.
Of course.
And I trust their direction.
But it's vice versa.
We both feel that way.
The other piece to their herteam that I appreciate very much
is when they do come to checkin, which they go above and
(12:38):
beyond, but they check in notonly on mia, but myself and my
husband, and to see how we'redoing.
And they genuinely care about usas a family.
We have a lot of correspondence,through email phone in person.
And they've really gotten theextra mile for Mia.
Her hematologist is constantlyin consultation.
With hematologists across theworld, literally speaking to
(12:58):
people in Sweden, attendingconferences because Mia's one of
his only patients who has thecondition.
And so he really took the timeto educate himself and be there
and know what to do as well.
And he's learning and they'revery humble and very caring.
And you don't always get that
Taylor Anne Burtz (13:17):
I mean, you work in the medical field, so
you know, you see doctors everyday.
They're not on this likepedestal with you.
They're just normal people.
But growing up physician's,child and everything, like it's,
you see it as like doctors orpeople too type thing.
Jessica Varacalli (13:31):
Absolutely.
Taylor Anne Burtz (13:31):
I have always, gone to doctors who
either knew me, knew my sisterknew, knew my parents or
whatever.
Were friends with the family.
Because they have that personalconnection.
They care about you.
Well then, you get into thecommunity and stuff and you meet
people who they're like, well,my hematologist doesn't listen
to me.
And I just want to, let themknow like, hey, you want to find
(13:55):
a doctor who cares and whoconnects and who is invested in
you.
It is a service.
You're paying that service.
If you don't like yourhematologist, then let's find
you a different hematologist.
Jessica Varacalli (14:09):
Yeah, it's sometimes it's hard too though
because it's like you want asecond opinion and it's not
always readily available becauseI know even just within, we're
already going two hours away toreceive this specific service.
And for pediatric, like that'swho you have We didn't like'em,
we would've had to then goanother two hours away, like
four hours away to Toronto andhope that they would, accept a
referral if we wanted a secondopinion or something like that.
(14:31):
So it's hard when sometimes aselection is limited as well.
Taylor Anne Burtz (14:35):
There's very few hematologists that I know of
or hematology teams that I knowof who go above and beyond like
your team does.
And I know that Peter's was oneof them that I know of.
There's a team out in Californiathat I know of, and Julia's team
when she was younger, was thesame way.
But other than that, you justdon't really hear a whole lot
(14:56):
about it.
Jessica Varacalli (14:56):
Yeah, unfortunately you sometimes hear
obviously the opposite of just,I'm not quite feeling heard or
I, don't feel like they're,paying enough attention to my
concerns or, answering myquestions.
Cuz again, it's a complexcondition and it's rare and you
can do, research till you'reblue in the face.
But again, it's, a lot of stuff.
I feel like all at once I becamelike a, hematologist, a
geneticist, and I'm just tryingto be a new mom,
Taylor Anne Burtz (15:18):
Well, and your hematology team is kind of
learning along with y'all too,because again, it's something
that there's so littleliterature on that.
Okay.
Well, they're now taking notesfor if they ever have another GT
patient, you know?
Jessica Varacalli (15:32):
Yeah, they're phenomenal.
And, the tough part, and it'sgood, but we learn as we go
because I, at least in ourexperience, like every person's
experience with GT is soindividualized as well, right?
Yes.
Just because you can haveeverybody be oh, type one GT
category, but it doesn't meanthat you're on the same
trajectory, have the sameexperiences, hospitalizations,
level of bleeds, type of bleeds,so they're taking notes, but
(15:54):
it's also where like, He saidfrom the get go, like we just
we're learning from Mia eachtime.
This is what she tends torespond to.
And then, and that can shift tooover time as she grows.
And then we just continue tolearn and grow with her.
Taylor Anne Burtz (16:06):
Well so are they preparing, because you're
right in the thralls of the notfun years.
And now you're kind of, she'stwo and a.
you're really getting into thatage of like nose bleeds or gum
bleeds.
What is the plan now with nosebleeds?
She's too small for you reallyto be able to pack a nose bleed.
What exactly are y'all doing nowfor a nosebleed?
Jessica Varacalli (16:28):
Yeah, so it's, it's always ever changing.
Mia's primary has always beennosebleeds.
She's a professional in thenosebleed sector.
And it's gotten morechallenging.
She's very intelligent andinsightful in terms of, because
of her hospitalizations and ustrying to educate her the best
we can for her age about hercondition and things like that.
(16:49):
She does know, Nose bleeds.
She can identify if there's aclot in there.
She can also like tell us whather iv, now she has a port, but
when she got IV medication, whatit was for to help her nose
bleeds, but she's not quite atthe age where we can explain to
her.
Listen, if you let mommy applysome pressure to your nose it'll
help a little bit.
(17:10):
Or if you, just relax and, andsit here.
Run around the room while you'rebleeding it'll be helpful.
So we're in that kind of range.
Our most recent admission wasbecause unfortunately she had a
bleed the week before.
It was healing.
She had some crust, up in there.
And so of course she shoved herindex finger in her nose, right?
(17:31):
Cause it was itchy and that'snatural.
But then it caused a bleed,right?
So we're in that, that toughperiod right now with her.
But she has had quite a fewbouts of surgiflo.
I, I don't know if that's acommon term amongst it, but
essentially it's a kind of likethe e n t comes to just like
expands in there to block thenostril.
So they did do that mostrecently at her last admission.
(17:52):
She tends to sneeze it outunfortunately.
But it, but we do try it
Taylor Anne Burtz (17:56):
you're gonna hate me saying this they're not
putting it far enough in andthat, I like That sounds awful.
I'll have to show you a picturesometime of like Julia when cuz
she does her own nose packingnow.
Before it was the same thing.
So we did not have Novo sevenor, you know, NiaStase.
It was not approved.
What was not used at all so thatwas their, you know, they do
(18:19):
transexamic and Missy correct meif I'm wrong, y'all were kind of
the same way where it was thepacking that they used.
First off, always the one thatdisintegrates or dissolves over
time.
Having them having to like holdthem down.
It would bruise underneath,that's how high up.
Melissa Zdziarski (18:39):
Peter was put into a papoose.
I don't know if they still use apapoose in the ER for young ones
Jessica Varacalli (18:45):
They've burritoed her in multiple
blankets.
I have both my legs wrappedaround her.
I'm wrapped around multiplenurses, holding her and she
fights it cuz it'suncomfortable.
Taylor Anne Burtz (18:55):
Now are they using, is surgiflo dissolvable?
Is it supposed to dissolve overtime?
Jessica Varacalli (18:59):
Yes.
It doesn't have to be likesomething that's removed
physically.
She's only ever gotten thesurgiflo in terms of like
packing, so to speak.
Taylor Anne Burtz (19:07):
Have they tried where, like you do a quick
Afrin or a quick epinephrine andthen they pack it afterward?
Jessica Varacalli (19:14):
No, they have not.
Taylor Anne Burtz (19:16):
So I'm gonna recommend this and the only
reason why, the thing thatterrifies me and terrifies Missy
and terrifies Peter andterrifies Dr.
Wilcox, is the repeated, ongoinguse of recombinant factor seven
a.
we don't know the long-termeffects.
Jessica Varacalli (19:35):
Right.
And Mia's had, I will tell youright now, right?
Well over 300 doses we have anapp that we track.
Taylor Anne Burtz (19:42):
You are in the medical field.
So you know, like the more youuse a medicine, the more likely
that the efficacy is going tonot be as much.
And this is just kind of how, mygeneration, how Missy learned
and everything was cuz you justdidn't have that option.
Right?
So that's where we're okay, packit you're also getting into that
age now where she's getting alittle bit older.
(20:05):
And so even if you are doingthat medication, It only lasts
for however long you'readministering it.
And in the nose.
Like she's at that age whereshe's running around, she's
playing or whatever.
Any type of clot that she couldhave potentially built while she
was on that medicine.
Jessica Varacalli (20:21):
Well that's what we joke about.
She always has our phases of theadmission.
Cuz then it's like, okay, yeah,we're bracing for the sneeze And
then yeah, bracing for thedislodge of the, the surgiflo.
Taylor Anne Burtz (20:31):
So this last one was a posterior nose bleed
and you said that before whenthey went in, it's been pretty
much the same bleed
Jessica Varacalli (20:39):
We suspect like that It is.
I mean, it may be from differentlocations.
But she has been consistentlybleeding like since about June
of last year.
We're at 21 admissions and 12 ofthose have been in since July,
Taylor Anne Burtz (20:54):
When they went in and they didn't see
anything, I mean, I can sayhopefully I know that this is
the case with some things orwith some doctors, at least
they've gone in once now, sohopefully it won't be as
difficult to get them to go inagain.
Now Missy with Peter, when hehad nosebleeds and everything at
that age, again, Novo seven itwasn't f d A approved.
I don't even think, did itexist?
Melissa Zdziarski (21:14):
That's a good question.
I think we'd have to do someresearch to figure, to clarify
we were prescribed Amicar 30years ago.
I think that's what we had inthe US at that point.
I don't think we had tranexamicacid.
Amicar was the medication thatcaused the stomach upset and the
queasiness.
If you're trying to slow down ableed and, and create a clot and
he's throwing up because he wasqueasy with it.
It just didn't seem to makesense.
(21:35):
We were able to have tranexamicacid prepared by a compound
pharmacy.
And we did try that, but thattook a lot of creative figuring
out to get that made even.
But our go-to when he when hehad a gusher, we would start
with slowing it down withpressure.
So, You know, we'd have toconvince him to sit still, which
wasn't easy.
But back then we had Barney, Idon't if anybody who remembers
(21:57):
Barney, getting him you know,preoccupied with something else
while we were doing it.
And he, he was pretty patientcuz it was unpleasant to take
Amicar and have a nose bleed andhe wanted it to stop just as
much as we did.
We would try pressure and thenas soon as we got it slowed
down, we would use Afrin, whichconstricts, the vessels to
hopefully.
Close things off a little bit.
(22:18):
And we would start on Amicarand, kind of wait it out and it
would be a gusher if itcontinued after pressure and
Amicar and having him meet aPopsicle and, keeping him quiet,
then we would head off to the erand it would mean getting out
the backboard with the wraps, itwas called a papoose at that
time.
So he would cry and he wouldscream, which would cause a tiki
(22:40):
eye around his eyes.
And they would pack it and wewould leave.
And back then they didn't startout with the surgicel, the stuff
that would dissolve.
They used like a long strip ofgauze that was coded in like a
bacitracin.
So it would go up easy and comeout very easy, it was lubricated
and they would leave it in.
(23:01):
Probably 48 hours and they wouldput'em on an antibiotic cuz
leaving a packing in that long,there's a chance of a sinus
infection of causing you somebacteria in there.
And then we would take it out afew days later and, cross our
fingers and hope for the bestand go from there.
So, we didn't have the Novaseven.
There wasn't that option.
Jessica Varacalli (23:20):
So it says for the prevention of bleeding
and surgical interventions orinvasive procedures in patients
with hemophilia.
Taylor Anne Burtz (23:27):
I think that that was when it was starting to
be like mainly off-label use ingt.
Right.
Because it was off-label use foryears.
Right.
And that was one of the reasonswhy it was so difficult for
people to get their hands on fora really long time.
Melissa Zdziarski (23:39):
When did your mom start the support group?
What year?
Taylor Anne Burtz (23:42):
The foundation was started in 2001.
Melissa Zdziarski (23:45):
I'm trying to remember.
You know, being on that, thatmessage board that was part of
the website at the time.
Trying to think back.
It's too bad we can't accessthat, cuz I'd love to look back
and see when we first heard ofNovo seven, maybe it was
mentioned on that board and whothe first GT patient was that
used it
Taylor Anne Burtz (24:02):
all I remember is that it was
something that my dad wasfamiliar with because it's used
in burn patients a lot.
So I think it was something thatlike he had kind of heard about
pretty, pretty early on and thenit kind of took off from there
where it was brought up more andmore within the group.
(24:23):
Again, because it was somethingthat nobody knew of.
I always like find it funny cuzI say like our generation or
whatever, but it like thatinitial smaller like group that
was connected was very waryabout using it because the last
thing that everybody had talkedabout was like, oh, use
(24:45):
platelets, use platelets, useplatelets.
But we had older people withinthe group who were like,
absolutely not.
No, no platelets.
No platelets at all because wehave all of these antibodies and
now it takes us 72 hours to getplatelets if we need them.
So then now when it was like,okay, well we've got this great
(25:05):
medicine that works and all ofthis.
Everybody's kind of going inwith that same mindset where
it's like, okay, hold on.
Like, how long does it work forus
Melissa Zdziarski (25:13):
so we should clarify.
It took so many two hours to getplatelets because they had to be
matched.
Jessica Varacalli (25:18):
I will say, just in comparison given that so
Mia's had platelet.
Twice now for the first time,kind of in the last month only
cuz she had her port, port in,so that was HLA match.
But here in Canada, like thattook over three weeks
Taylor Anne Burtz (25:33):
see that's scary to me
Jessica Varacalli (25:34):
If it was an emergent situation, I think that
they probably may have been ableto get it quicker, but it
definitely wouldn't have beenthat quick.
I'll tell you that.
So and then she eventually lastadmission had to have unmatched
platelets just cuz of her drop.
But we've avoided it this long.
There's been times where we werelike, right, ready?
Like I've actually signedconsent and then they finally
like, you know what, okay, it'sslowing, we're just gonna hold
(25:56):
off.
We did make it, that far andthey do plan to do a, a blood
test just to make sure that shedidn't develop the antibodies,
Taylor Anne Burtz (26:03):
has she ever had filtered red cells instead
of
Jessica Varacalli (26:07):
she like in terms of a, like a blood
transfusion?
Yes.
She's had now required threeblood transfusions.
Taylor Anne Burtz (26:14):
Cuz that's something I don't know.
I try not to put this out thereall the time and everything just
cuz it's my sister and she's soprivate she has never ever had a
platelet transfusion.
when I tell you that my mom wasanti-platelets, like she was,
there was absolutely noquestioning her stance on it.
(26:36):
Whereas like now it's kind oflike, okay, yes, platelets bad,
but at the same time, like ifthat's your, if that's your
go-to, I never want anybody tohesitate, where like, Mia got
down to 4.8.
Jessica Varacalli (26:51):
And I will say that like her, her team has
always held the stance.
Like we know that right now, ifwe give our platelets, things
will be stabilized, there's beentimes where they're like, but
we're just gonna keep you inhospital for a few more days.
Yeah.
And if we get to that point, weget to that point.
So they've been very, veryconservative.
When her hematologist came inand was like, I think we gotta
throw on the towel I hate to doit because we've tried to avoid
(27:13):
so much of, of everything.
But he knew it was, just kind ofrequired.
Taylor Anne Burtz (27:18):
Which is great because I think Missy,
y'all didn't really haveplatelets thrown at you too
much, did you?
Melissa Zdziarski (27:23):
I think we did.
I think that's all we had.
Platelets were never suggestedfor nosebleeds.
I should clarify.
When Peter was learning how towalk, he, fell and he, hit his
head and they monitored it veryclosely for a couple of days.
They draw the little circlearound it with the sharpie
marker and watch it expand andexpand.
And, and it got to a point whereit was like, okay, we need to do
some platelets.
They were HLA matched.
(27:44):
And he once needed them for a GIbleed when he was a little
kiddo.
And then also he had them for anelbow surgery and when he had
his wisdom teeth removed, buteach time they were HLA matched.
So we were lucky enough to havea hematologist that, was very
aware enough and also for thesurgeries they were scheduled so
they had time to get them.
It wasn't an emergencysituation, but he's never had
(28:06):
Novo seven
Taylor Anne Burtz (28:06):
If Julia's had it, I think she's maybe had
it once or twice.
Insurance companies here in theUS are starting to and we just
actually just just saw thispersonally, but Novo seven now,
the on-label used for Novo sevenwith GT is after platelets and
if platelets don't work.
So just recently, my sister's atthat age where she's making her
(28:28):
medical decisions on her own andeverything.
And so I remember, she had askedfor some Nova seven, she'd been
having a really bad posteriornose bleed.
And so she was in the emergencyroom, they called her
hematologist, told him that youknow, hey, she wants to try son
Nova seven.
And he goes, no.
And she was like, okay.
(28:48):
and he's like, well, insurancewon't, won't approve it right
now unless she has plateletsfirst.
It was like one of those kind ofwhere we were, kind of shocked.
We were like, okay all right.
And she's like, well, I guessI'll be fine.
Jessica Varacalli (29:02):
And that's where it's so crazy the
difference between likecountries, right?
Like mm-hmm.
But we have at any time, likeany given time, we need 12
doses.
We keep at home
Taylor Anne Burtz (29:12):
There are people here who do the same
exact thing.
And I will say like, it used toget approved very easily.
We're just kind of starting tosee where it's not being
approved quite as easily.
But I also remember where itused to be like, oh, who has
Novo seven?
Can you send me some Novo seven,it was one of those things where
people would have it at homebecause you could also
potentially where like thehospital wouldn't be able to get
(29:34):
it, or the hospital pharmacywouldn't be able to get it.
Melissa Zdziarski (29:36):
The hospital pharmacy didn't stock it.
I mean, if you're going to asmall hospital,
Taylor Anne Burtz (29:39):
I am glad that we have it now because it
does help with the, one of thethings that Missy kind of
brought up, The GI bleeds.
So Mia hasn't had a problem withthis yet, has she?
Jessica Varacalli (29:50):
Knock on wood.
She's had one incident where wewent to cuz she fell and her
bottom teeth punctured kind ofthe internal part of her mouth.
But aside from that, she has nothad any other you know, major
bleeds or anything like that.
Taylor Anne Burtz (30:01):
Missy I want you to talk us through the GI
bleed because I know Peter had abad GI bleed.
Julia had a bad GI bleed.
I'm pretty sure Emily had a badGI bleed.
Or you know, before they weresix.
I think that it's somethingthat, you get so, so used to
looking out for like a nosebleed or a gum bleed or
something.
(30:21):
Any younger parents or parentsof younger kids and everything,
I just kind of want you to gothrough like what to look for
with that, because those are thebleeds that can get very fast.
Melissa Zdziarski (30:33):
Well, in Peter's case, I don't know that
we ever proved it was exactly aGI lead because he he presented
by throwing up blood.
There wasn't like the, the darkcolored stool for a couple of
days.
He just came into our room onenight and threw up blood all
over the place.
And we panicked and we, okay, webring him to the the emergency
room, which is a small localemergency room, and his levels
(30:55):
were way low.
I don't even I blocked that allout.
I don't remember what it was,but we had to be, you know,
rushed by ambulance to a biggerhospital.
And they gave him the plateletsand he had to stay a few days,
but they never really determinedif it was a posterior nose
bleed.
So it wasn't coming out thefront, he was swallowing it and
that could have been why he wasthrowing up blood or if it was a
(31:17):
GI bleed.
They did put him under verybriefly to look in his nose.
We had a really good pediatric en t who put him under and looked
in his nose and said, well,there's no active bleeding right
now.
But I cannot say positively thatit wasn't before, So that was
our experience with the GIBleed.
We just really didn't know.
I think the doctors wrote it upas a GI bleed and insurance paid
(31:37):
for it as a GI bleed, but wewere never a hundred percent
sure.
Taylor Anne Burtz (31:41):
Yeah.
With ours, I think Julia waslike maybe five, and definitely
around that age.
But I do remember it was kind ofsimilar where she threw up
blood.
They kind of kept an eye on her.
She didn't throw blood againover the next couple of days,
they really started to see, shegot really sluggish, really
lethargic and everything.
Just doing like the simplechecks of like the, within the
(32:03):
eyelids looking at theircapillary response on the
fingers and everything.
And finally they were like,okay, well we need to take her
in.
We think something's going oninternally that we just don't
know about.
And so when they did get her inand everything, I want to say
that her hemoglobin was betweena four and a five.
That is the only time that myparents have ever considered
(32:24):
platelets.
Like just in that moment like,Hey, we're gonna do this.
And it was one of those thingswhere they were going to do the
HLA matched and they couldn'tget them immediately.
So what they were doing at thehospital and everything with the
red cells and all of that, ithappened to work and they were
able to get her hemoglobin upand so they decided against
(32:44):
using the platelets when theycame in.
But that is something that,again, like with little kids,
it's hard because.
They don't necessarily know whatthey're feeling.
They don't know like, Hey, Icould possibly have a bleed and
you're new to this too.
You seem to have a very good.
Grasp of Mia as a person.,
Jessica Varacalli (33:04):
She's still a toddler, But she will tell me
like, mummy, you know, blood'sgoing down my throat or my nose
is bleeding.
She will say, my nose isbleeding and I can't physically
see it.
And so then that's when we kindof try to figure out if it truly
is, or you know, if she's sayingit, which is normal, right.
But she will try to communicateor she'll say, I have a clad in
my nose.
Those types of things.
(33:25):
So she does have thatterminology that we've tried to
teach her.
And it's not always accurate cuzshe's a toddler.
Melissa Zdziarski (33:31):
Have you thought of some kind of therapy
for her as she gets a littleolder and can communicate better
just more as a talk it throughpreventative type of thing
before there are mental healthstuff,
Jessica Varacalli (33:42):
absolutely.
As a social worker myself, I'min, tunnel vision of medical
trauma And how it's impactedher.
In certain ways.
So we have you know, someservices in place, not
necessarily therapeutically, butto ensure safety at her daycare
and to be part of a team tosupport her in that way.
I've been reaching out to othercolleagues and, friends about
(34:03):
any resources in terms ofmedical trauma.
I'm not distinguishing that shehas it, but I know she's been in
hospital very often.
She's been in situations thathave been, concerning for her
and a lot of pokes and,different things.
And so I want her to be able to,to process that for sure.
So I'm absolutely open to, youknow, anything that she does end
(34:23):
up needing and I almost don'twanna force it on her as a
social worker, but also knowthat it's, it's in my mind and,
and we try to, frame it as, asbest as we can with her.
Melissa Zdziarski (34:34):
Mia's really lucky to have you, she really
is.
A little girl with GT is luckyto have a mama like you.
Jessica Varacalli (34:39):
Aw, thank you.
Taylor Anne Burtz (34:41):
It sounds like you speak to her about
pretty much everything.
Like that's such a big thing.
Again, you know, on that mentalhealth thing, the fact that
you're a social worker as welland you're so open to it, it's
not necessarily something thatpeople think of right away,
especially with a child thatyoung.
So you mentioned earlier thatMia's slightly sassy.
(35:03):
We know this, I know this.
I know this because I absolutelyloved falling along the great
journey of Can we get Mia tosmile for a picture?
So tell me, tell me more aboutMia
Jessica Varacalli (35:15):
she's a ball of energy.
She is witty She is crafty She'supset right now because she just
learned how to Houdini out ofher bedroom like without making
noise on the monitor.
She's been in the hallway.
My husband's found her like whenhe's looked at the monitor.
So we put a child lock and nowshe's like, mama, I don't like
that doorknob, She goes, itdoesn't work, But I also
(35:38):
wouldn't put a past that she'sgonna figure out how it works
but no, she's a big personality.
Staff at the hospitals couldattest to it.
Like she'll be in there, blooddown her face, all over the, and
she'll just be laughing andplaying like she is so easy
going.
Okay.
And even when she had to get,you know, IVs put in, she'd be
very upset naturally.
(35:58):
But I always joked, I'm like,she's very forgiving.
The same nurse would come in andshe'd be like, hi, you know
welcoming them.
She's very demanding about hervitals, so it has to be a
certain armpit for hertemperature, a certain leg for
her blood pressure, and acertain toe for her.
O two stats.
She loves to do vitals.
She's very passionate aboutmedical.
(36:19):
I try to grasp at the, thepositives of, you know, her
being into hospital.
She does enjoy medical stuff.
So she has a lot of medical kitsand she has her own stethoscope
and she loves that.
Taylor Anne Burtz (36:30):
Just give her a few years.
She's gonna be that sassy kidwho, the nurse can't find a vein
and she's like, you want me toplace the iv?
Jessica Varacalli (36:37):
Now she knows cuz she has the port, right?
So she even says like, let meput it in.
And we have helped her she'llpush her own flush, mm-hmm.
she'll help to do her ownmedicine.
She wants to do her own, her ownnisas when they come around and
she tells them where to connectit.
So she, she's learned a lot.
Taylor Anne Burtz (36:53):
You have one of the youngest kids in the
community right now, so you kindof have that on hand experience
at the moment.
What would you say to a parentthat just received a diagnosis
for their child?
Jessica Varacalli (37:06):
First and foremost, take a deep breath.
which I know can be hard.
Your child can and very likelywill have a fulfilling life.
This doesn't define them, it'sjust a super unique part of who
they are.
Second tip, do your research.
Education about GT is a hugeasset, as you may likely need to
be an advocate for your childone day.
(37:27):
And many times you'll be theexpert in the room as many
medical professionals have noidea how to deal with gt.
Third, as much as researching isbeneficial, try to remember that
no GT cases play outidentically.
It's best to not compare orproject one person's experience
onto your own child.
(37:47):
It's easy to be fearful of whatis to come or expect the worst,
but try to remain in the presentmoment and just take it day by
day.
And finally, like many lifecircumstances, there's gonna be
highs and lows.
Hold on tight to those reallygood times.
And in the more challengingtimes, don't forget to give
yourself grace.
Reach out to your loved ones forsupport as some days can be
(38:10):
heavier than others, but you gotthis.
And for the days you feel youdon't, we have the GT group.
Melissa Zdziarski (38:17):
Hardest times tend to be the most.
Learning experiences, that'swhen you learn the most.
Well, to go through it in themoment, it's terrifying and it's
terrific.
Yeah.
But the knowledge that you gaineach time.
You get through one of these oneof these incidents.
Jessica Varacalli (38:32):
It's a silver lining of Yeah.
You know, sometimes admissions,because that's what her team
used to say is, you know, atleast we're learning more about
kind of how her GT is playingout right now.
And where she's at and, and whatwe can do differently.
And so you try to take fromthat.
Melissa Zdziarski (38:47):
I think sharing with the community,
everything that you learn is soimportant.
Taylor Anne Burtz (38:51):
And I wanna say like this community is very
lucky to have you.
It has been a very long timesince we have had a parent of a
small, small child be asforthcoming and, sharing and
just really putting it all outthere for the group.
You are helping a lot of people.
Jessica Varacalli (39:10):
Try to do it in a sensitive way?
Cuz again, I, I know everyone'sexperience is so different and
it's like, I never want tooffend anyone, so sometimes if
it's more specific informationI, you know, reach out
individually.
But I'm more than happy to,share in terms of Mia's
experience, like to help anybodyelse feel kind of comforted by
that.
Taylor Anne Burtz (39:27):
Well thank you so much for joining us.
Jessica Varacalli (39:30):
Thank you guys.
And it's so nice to meet you allkind of semi in person,
hopefully Fingers crossed inperson at the convention.
Taylor Anne Burtz (39:37):
For those of you who don't know, we will be
hosting our first.
Glanzmann's Research FoundationEducational Conference this
upcoming July 26th through July29th in Boston, Massachusetts.
You can find out more about theconference on our website at
www.curegt.org.
(39:57):
If you have GT or you are afamily member of someone with
gt, you can find our supportgroup on Facebook.
You can actually find thatthrough our website as well.
And we are currently fundraisingand looking for speakers for
this conference too.
(40:18):
We will be announcing more as weget closer and we are actively
working on just presenting thebest possible conference that we
can for our community.
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