November 16, 2023 • 35 mins
Join Dr. Mailhiot and listen to RCBC Adjunct Jessica Simkins share her motherly medical story with her family and son Clark, who has been diagnosed with an ultra-rare genetic disorder called Myhre Syndrome. To date, there are approximately 200 diagnosed cases of Myhre Syndrome worldwide. Support, educate, and advocate for those impacted by Myhre syndrome. Learn more about Myhre here - myhresyndrome.org.
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Episode Transcript
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Dr. Brooke Mailhiot (00:00):
Welcome to Rowan College a Burlington
County's Baroness Podcast. I'mDr. Brooke Mailhoit program
chair and assistant professor ofour entertainment technologies
department. I am the co chair ofthe Women's Advocacy Group a
subcommittee of the President'sAdvisory Council on diversity,
equity and inclusion. Thismonthly series highlights women
(00:21):
in leadership while encouraginglisteners to build their skills,
connect with the community andvisualize the opportunities
available to women in variousprofessions. Tune in for a
female perspective on theBurlington County community. We
are here to listen to theseamazing women and if you want to
hear from women who lead andinspire this podcast is for you.
(00:45):
Welcome to November, it is timeto be thankful we are close to
the holidays. And today, I amthankful for all the wonderful
women and networking that I getto do and today our guest is
Jessica Simkins, a professor oftheatre at rcbc. She's a master
(01:07):
in fine arts and stagemanagement. And she has over two
decades of experience stagemanaging professional theatre
and dance productions. She isserving as the managing director
for a nonprofit theater inPhiladelphia for over 10 years
and is the mother of twofabulous children. Her youngest
Clark has an ultra rare geneticdisorder called Myhre Syndrome.
(01:30):
And to date, there areapproximately 200, you said,
diagnose cases of my recent drumin the world, and we're gonna
get to that. But first, I justwant to say, thank you so much,
Jessica, for being here on theBaroness podcast.
Unknown (01:46):
Thanks for having me.
Dr. Brooke Mailhiot (01:48):
You know, we met by chance, and I always
say it's like this diva, thiswomen's network of how like you
meet people in your life, andyou never know how they're going
to change or, you know, bringyou into different avenues and
different sectors into yourlife. And ours was kind of a
happenstance. Our two girls werein preschool together. And I
(02:09):
don't know why I was there. Iwas waiting for something. We
were both in the foyer and Istarted asking you like what you
do. And then I was like, Hey, Ithink you might want to come to
rcbc. And like possibly teachmaybe be an adjunct, right? We
were like chatting, and Iconnected you. And then now
you're here. How long have youbeen here?
Unknown (02:28):
So that was in the fall of 2019. And I've been here
since that next semester, and2020, quick,
Dr. Brooke Mailhiot (02:35):
quick pickup quick changes. Why do you
like rcbc? Because I thinkthat's an interesting question I
ask a lot of, of our adjunctsthat it's, you know, it's a
unique space, because it is acommunity, but what is it about
rcbc that you enjoy the most.
Unknown (02:54):
So the other times I've taught, it's usually with
students that are specificallylooking into going into theater,
that it's their major, orthey're already getting their
masters in it. And when I comehere, I'm getting to teach at
community people who maybe havenever even seen a play before.
And this is their firsttouchstone to theater and being
able to ignite that spark inthem, or even just help explain
(03:16):
what that play meant. It's it'sunique, it's a new experience.
You
Dr. Brooke Mailhiot (03:20):
have a wealth of experience in in the
history of I know in Philly, inthe suburbs of Philly in the
theater district. Can you justgive us a quick background? I
know I shared a little bit but aquick background of of your
experience in the industry.Yeah.
Unknown (03:35):
So I started stage managing in Kansas City while I
was getting my masters over atthe Kansas City rep and the
actors theater of Kansas City,and with the Kansas City Ballet
doing, doing the Nutcracker,there is a beast. It's a fun
fun, Beast. Sure. And then whenI graduated, my husband and I
moved to the Philadelphia area,because he's from around here.
(03:59):
I'm actually from SouthCarolina, there's not a whole
lot of professional theaterthere.
Dr. Brooke Mailhiot (04:03):
So I would think right here in the tri
state area, you got a lot oftheater going on.
Unknown (04:07):
I didn't have to look very far. Yes. So I continued
stage managing and landed intoan administrative job for a
company called Amaryllistheatre. And their whole purpose
was to be the most accessibleTheatre in the Philadelphia area
both in in their audience andhow they accommodated them. And
(04:27):
in the people who were in theirplace, from the designers and
technicians to the performers.It was they also provided a lot
of education to the other arts,organizations and community on
how to be a more accessibleorganization. And that was
incredibly fulfilling. And fromthat, another theatre company
saw what I was doing there andtook me on as their managing
(04:48):
director. And I stayed at thehelm of that group for 10 years
until, oh, about six months intoCOVID and then I took a step At
Dr. Brooke Mailhiot (05:00):
back, you used a beautiful term of
accessibility. And I think I'mgoing to use that word now on to
some of the work that you'redoing for your son Clark. And
that's, you know, your, your,your baby to you and providing
access and care and education,to a lot of people that don't
(05:25):
know about my recent drum. Socould you? I know, it's probably
a long story. But could youstart about how you knew that
there was something happeningwith Clark, and then how you
learn and I know it was a longprocess for you to try and find
out about my Re and there's nota lot of people that are dealing
(05:49):
with this. Start from thebeginning when
Unknown (05:52):
Clark before he was born there, the ultrasounds are
showing some abnormalities. Andthe original the hospital we
were at, was perfectly fine withmy first child who came out
perfectly typical. But they keptsaying there's unique things
here. We're not sure we think hemight need emergency surgery as
soon as he's born. And we don'tdo that here. So we would fly
(06:15):
him medivac, to Wilmington,Delaware, to do it at Nemours.
And my first reaction is, I'mnot going to stay in
Philadelphia, while my baby'sgetting surgery in Delaware.
What options do we have to beable to do that surgery in a
hospital? Sure. And someone saidto me, Well, have you? Have you
thought about having your babyat shop? And like, No, you don't
(06:39):
have babies at CHOP, you bringbabies to chop, right? Fun fact,
they have a special deliveryunit, they have two delivery
rooms total in the wholehospital and three recovery
rooms. The mother has to beextremely healthy, because they
don't have the facilities totake care of an adult if
something goes wrong. Right. Sohospital Children's Hospital.
(07:02):
And so they went through a bunchof tests for my, my baby before
he was born. But they also did alot of testing on me to make
sure that I was healthy enoughto deliver there. They have a
little room in the middle of theto delivery rooms with a window.
And all of the equipment theycould need, should anything go
wrong. And once the baby's born,they just pass the baby through
(07:23):
the window. And there's a wholemedical team there ready to
examine them. It was unreal, I'm
Dr. Brooke Mailhiot (07:28):
sure I mean, even if you were a second
time, mom, anything that youhear, there's something in
something wrong with your baby,you're going to need emergency
surgery and all these things. Imean, I don't even know the
stress. You know, mentalemotional, I mean, what were you
going through? because not a lotof women talk about that? Like,
(07:50):
how did how are you handling it,you know, you're pregnant? Your
baby's not even out yet. And youhave all this weight? Like a
Unknown (07:59):
lot of research. I'm a fact based person. And most of
the people in my family work inthe medical industry. I'm the
outlier. There.
Dr. Brooke Mailhiot (08:07):
So like I got the theater managing Can we
do a little, you know, show onthe side, but yeah, no data
facts, no health facts, nomedical, you know, education.
Okay.
Unknown (08:18):
So just a whole lot of if and then and just taking
notes and getting secondopinions. And once. Once we, we
were we found out the day thatwe were supposed to be induced
at the other hospital, that wewere allowed to be delivered at
CHOP. Wow, we actually had ourbags packed and we weren't sure
if we were leaving all go toDelaware.
Dr. Brooke Mailhiot (08:40):
Yeah, or Willie, like where we go.
Unknown (08:43):
But it happened. And he did surprisingly did not need
surgery when he was born. But hedid about 10 minutes after his
born crash really hard and needlike every intervention
imaginable. Sure. So we spent 17days in the NICU and, you know,
slowly weaning him off of all ofthe medical supports, and he
(09:04):
came home with nothing but kneeand a scale to make sure he gave
the right amount of weight. So
Dr. Brooke Mailhiot (09:10):
what are some of the symptoms that are
seen? Post obviously, that youhad him and some of the symptoms
when he you know, if he washitting those mile markers and
as he was growing what what weresome of those symptoms that you
were seeing that you're like,Okay, we can take this off the
table this off the table, hedoesn't have any of these and
(09:31):
you're seeing all thesespecialists and they they have
no clue or they're Missdiagnosing left and right and
sending you to a specialist.What I mean what's happening
then post this 17 days in NICU,you're bringing him home. So
Unknown (09:45):
while we were at the hospital, still they had
actually the head of thedepartment come and check out
Clark because he was such aunique scenario. Sure. And they
ran all the blood tests theycould to see if there was any
And a genetic difference. Butthey were just a standard blood
test and nothing came up. Andthey said, We think there's
(10:06):
possibly something there, butcome back when he's a year old.
So we went home, he had, youknow, some feeding issues, it
was really hard for him to nurseor take a bottle in general. But
we managed to get through that.And then he hit six months, and
they said that he just wasn'tgaining enough weight for them
to be happy. Other than that, wedidn't notice a whole lot in
(10:29):
that period of time. Theydecided he had failure to
thrive, which is a veryarbitrary designation shortly a
number of different things.Exactly. And they started him on
NG tubes, which is just givingextra nutrition through the
nose. They didn't know at thetime his diagnosis, which
includes being small. So no, hewasn't growing at the rate of a
(10:52):
typical person, but he was notsupposed to his body's not built
for that. So they actuallyovercorrected. And he gained a
lot of weight that he shouldn'thave. So that that's another
challenge. Yeah, that took a lotof meat pushing, and just
saying, I'm not doing thesefeeds anymore. Like I see this
as uncomfortable for him.
Dr. Brooke Mailhiot (11:10):
Sure. I listen, it's that motherly
instinct, a lot of people don'treally take note of that. But
like, we have this motherlyinstinct, and you thank God that
you stood and advocated up forthat. We did get
Unknown (11:25):
him into early intervention, though, because he
had global developmental delays.So he was getting pte. He was
getting ot he was gettingspeech. It turned out that his
ears weren't draining properly,there was a lot of fluid in
them, which was preventing himfrom hearing well, which causes
speech delays, sure. And when wefinally hit that one year mark,
(11:48):
and we went back to thegeneticist, they do all this,
these tiny little measurementsof like how far your eyes from
your nose and how like, what howdeep is your nose, like, it's
like, there's a lot of physicaltraits that you see with someone
with miry syndrome, similar tosomeone with Down syndrome,
where you look at them when yougo, I can tell this person has
this syndrome. But with so fewpeople in the world, not
(12:11):
everybody knows what that lookslike I can I can pick them out
of a crowd now that I know thatI'm a parent of someone who has
it. So this geneticist had seen,I think two other people already
who had my race syndrome, andshe thought this might be it.
The only way they could diagnoseit at the time was full exome
sequencing, which is takingblood from both parents and the
(12:35):
child. And they it's like layingall the pages of a book out and
making sure they're all there.And all the pages of the book
were there, but there was oneout of order. And that's the
SMAD for gene. And that's,that's the whole thing that put
everything into the put the ballin motion and why he's
(13:00):
different. There's a couple ofdifferent genetic disorders
related to that gene. But and soit's on a specific chromosome
that causes this geneticdisorder. So
Dr. Brooke Mailhiot (13:12):
you had told me that some of the common
characteristics of Myriesyndrome are short stature,
characteristic facial features,small eyes, small mouth,
prominent chin, intellectualdisabilities, and or autism,
hearing loss, limited jointmobility problems with lungs and
airways, problems with heart andblood vessels thickening skin,
(13:33):
where is now Clark in hismanagement of this in medical
care, there's, there's not acure of any sort. This is
genetic disorder of this gene.Where is he at now with his
health.
Unknown (13:51):
So we are one of the luckier families and they tell
us that every time we go,there's a clinic in Boston at
Bass general that is actuallystudying this genetic disorder.
It's the only clinic in theworld that's studying it. So
again, we're really lucky to bewhere we are. It's not to get to
Boston, and we see them everytwo to three years, and a
(14:14):
smattering of specialists thatare studying the differences.
The different things that can gowrong with miry. Just check in
on him make sure he's doingokay. His lungs are great. And
he sleeps a caveat better thananyone they've seen in clinic.
(14:35):
However, he does not sleep well.Okay. It's definitely hard for
him to fall asleep. It's hardfor him to stay asleep. But
compared to the population theyhave seen, he doesn't need like
medication to help him go tosleep really short. His heart
has a lot of unique features.His cardiologist is so
(14:58):
descriptive. He says it's likehaving a It's like, oh, you have
a freckle. And I don't have afreckle, you know, so it's
unique. It's interesting, butit's not going to impact a
medically right now. However,right along his left ventricle,
the the tissue there is thickerand spongier than a typical
heart, which can if it continuesto thicken, cause issues that
(15:21):
will cause it, the heart to havedifficulty squeezing properly,
sure, which they call leftventricular noncompaction. And
that could in the long runrequire surgery. The problem was
surgery and Miry is that the themain thing that is caused by
this difference is a propensityto fibrosis, and scar tissue. So
(15:44):
even the most minimally invasivething in the world could be
disastrous for someone withmiry. Like intubation, like a
breathing tube that you put downwhen someone's having difficulty
breathing, that could cause scartissue in the airway to make it
so that that person can'tbreathe well for the rest of
their life. So you hear, oh,this person needs heart surgery,
(16:07):
you think real hard about it.And you think about all the
other things you can do beforeyou take that step. Sure. But
like I said, he's doing okay,right now he's uh, he's toeing
the line of a medical diagnosiswith cardiomyopathy, but he's
not there yet. No restrictionson his physical exertion either.
So he can go run and play likeeverybody else, which is
(16:28):
fantastic. He definitely has thedevelopmental delays of like,
his, his speech andcommunication is not at a like a
typical appear level. So he cancommunicate needs and wants very
well. He is not shy about that.You're like, I know that. When
it comes to having like aconversation, that's a little
(16:51):
bit more difficult, challenging,
Dr. Brooke Mailhiot (16:52):
and, and he's obviously doing therapies
for these things. And you'retrying as much as you can to
push that forward. Absolutely.He
Unknown (17:00):
has therapy, four to five days a week of some sort,
but that's, you know, it'skeeping him progressing and have
what physical therapy,occupational therapy, speech
therapy, behavioral therapy, andwe are so lucky to live where we
are because Camden Countyactually has a huge Disabilities
(17:23):
Program. And they do a lot ofthings for people with special
needs of all ages. And one ofthem is horse therapy.
Dr. Brooke Mailhiot (17:30):
equine therapy. I know it's a really I
we actually, years ago, mystudents actually did a
documentary about a place inBurlington County, and you you
don't realize how beautiful thatis that, you know, they can just
be with the with the horses, theequines and just be themselves.
(17:55):
How is he enjoying that?
Unknown (17:56):
Oh, he loves it, he loves it, it's every other week,
and it's completely paid for bythe county, which is just
unbelievable, because that outof pocket on top of all the
other therapies he
Dr. Brooke Mailhiot (18:06):
gets, and I can only imagine, yeah, yeah,
but it so you
Unknown (18:11):
get that, almost like that dog therapy part of it,
where it's, you know, it's justemotionally supportive for them.
But they also it's buildingtheir core strength, because
they have to sit upright andbalance on that horse and their,
their hand eye coordination,they'll have like those velcro
darts in the balls, and they'llbe throwing it to that they'll
be doing like a beanbag tosses,it's all these different things
(18:33):
that are helping, like continueto work on range of motion in
their joints. And I don't know,because they're just having fun
on a horse, which is lovely. Oh,that's
Dr. Brooke Mailhiot (18:41):
beautiful. So with all these therapies, all
these things, being a mom,everything else, when when do
you sleep? periodically? Yeah,periodically. I've been, you
know, I think a lot of women whoare dealing with children that
(19:03):
are facing, you know, somemedical issues with their
children. I mean, it's, it'staxing social socially,
emotionally. How do you getthrough it? Like, where's your
like, where's your out? Wheredid where do you get to take a
breath? Do you take a breath?What are you doing for for you?
(19:24):
Because a lot of us, we don'thave time for us. I mean,
Unknown (19:29):
yeah, I built it in. When I stopped at the theater as
the Managing Director, I didn'thave to commute to Philadelphia
anymore. And I do a lot of mywork from home. So I drop off my
older child at school, and I runevery single morning before I
actually sit down at my desk andstart work and that is that's my
(19:50):
outlet. And it's been it's beenalmost three years now. Which so
it's it's helping me kind oflike take all the stress in my
world and just to leave it onthe street, and being able to
get fresh air and the sunshinelike it's it's incredibly
therapeutic. And then it'ssomething that's actually
healthy at
Dr. Brooke Mailhiot (20:08):
the same time. A lot of people don't
realize how much vitamin Dhelps. Oh, it's huge.
Unknown (20:12):
And yeah, my home, my home office is in my basement.
So I've got to get outside.You're
Dr. Brooke Mailhiot (20:17):
like, where's the sun? What would you
tell other women who are goingthrough, you know, Situ medical
situations and all this, youknow, dealing with anything in
their life with their childrenthat just, you know, it's
overwhelming. It's a lot to dealwith you, you know, you went
(20:39):
from, like, you're saying nomedical background? No, nothing.
I mean, to me when we werespeaking here, you you know, I
think you now have a master'sin, you know, every medical
doctor are known to man now.What kind of advice would you
give women who are going throughsimilar situations with their
(21:00):
children?
Unknown (21:00):
Don't do it alone. Like accept the help. Everybody wants
to say that they're strongenough? They can do it on their
own? They don't need the help.But even if you can, you don't
have to, and you shouldn't likeaccepting that.
Dr. Brooke Mailhiot (21:13):
Yeah, I think I think women we feel like
that's, that's making us lookweak. Oh, yeah. And why? Yeah,
and you're the mom. So it'slike, what? Why? Why should we
have to feel like that weshouldn't, we should be able to
rally and go and ask for help.And do you have like a network
that you go to? Do you havethose, those that group of I
(21:36):
call it like, my diva group, ormy mom's group, or my girls that
are always there for me? So
Unknown (21:42):
I have, we have a Facebook group for the
international community offamilies who have Myrie, which
is really good for informationand support. Sure. That's
actually I found that groupbefore we even sat down with the
geneticists, they, they werelike, we're not supposed to tell
you, but we're gonna tell youwhat it's called. And you know,
(22:03):
me, I immediately open up mycomputer, like, what is it? What
do we do? There's a clinic,okay. So that that's helpful.
But locally, I have a group offriends who have children with
special needs that run thegamut, you know, sure. It could
just, you know, be a learningdisability, it could be a
physical disability, but we'reall there just kind of
(22:23):
communicating. Yeah. Andsometimes, you know, whether
you're working with a doctorwho's not listening to you, or
dealing with an accommodationthat your student needs, that
for some reason isn't beingprovided, this is that that
tribe of mama bears who aregoing to rally behind you and
tell you how to navigate whatyou need to do.
Dr. Brooke Mailhiot (22:44):
That's wonderful that you have that
outlet, and all those people tosupport you. And I know that
you've been, you're now a boardon the board of directors for
the Myrie syndrome, how did youget involved in that?
Unknown (22:58):
They were looking for someone to help with some of
their marketing efforts about ayear and a half ago. And I said,
I can do that. But not I can'ttake it all on, I can help here
and there. And so I started ontheir marketing committee, and
then a year in they said, we'relooking to add some more board
members, would you beinterested? And I had to take a
(23:20):
deep breath because I like Isometimes have trouble saying
no,
Dr. Brooke Mailhiot (23:24):
I think we all have that, believe me, I can
raise my hand and say I have thesame situation. Can I fit it in
is always how do you do at all?That's what I'm saying earlier?
It's like, how do you do it all?It's a lot. And
Unknown (23:36):
we're doing it. It's It's working? It's happening.
And we actually now that they sothe foundation is only about
five years old. And they havehad they were supposed to have
their first in person conferencein 2020. Yeah. And that went
(23:56):
virtual. And ever since thenthey've done virtual
conferences, and this is for theinternational community. And
people, you know, there are somesignificant mobility concerns
for some of the people in thecommunity. So having them be
able to travel is difficult.Sure. But they are finally doing
(24:16):
their first in person conferencethis summer in July. And when we
started talking about it, likewhere should we have this?
where's a good place where,okay, it has to be accessible to
the national community. It hasto be affordable in terms of
hotels, like where can we dothis? And I'm like, why don't
you do it? And Philadelphia,like, yeah, this seemed like a
(24:38):
no brainer to me. And they werelike, well, let's look at some
other cities. Let's look at ouroptions. And then I sent them
information on some spaces inPhiladelphia, and they're like,
oh, that that is a no brainer.So I'm kind of the GSR ground
person for getting this goingnow, and it's exciting that I
have as soon as December hits,which is only a few weeks away.
(24:59):
I I'm going to have a lot to do.Yeah,
Dr. Brooke Mailhiot (25:02):
you got to the time management, the clock
is ticking then for a summerconference. What are your hopes
and dreams for moving forwardwith working towards this goal
(25:22):
and the assistance in gettingthe word out there about my
recent drum. So
Unknown (25:28):
I personally think that there's definitely more people
out there who have this syndromewho don't know, they either are
have their various symptomsdiagnosed, but not the
overarching cause. They may notbe in a community that has
access to the same level ofhealth care that we do. And you
know, there's a lot of doctorswho don't know what it is. So
(25:51):
helping, helping get theinformation out there so that
other people can finally get atrue diagnosis. And then work
from there is helpful, becausethis is a progressive syndrome,
all of these symptoms get worseover time, just because they
have, you know, just becausetheir hearing is fine today
doesn't mean that they won'thave significant hearing loss in
(26:13):
five to 10 years. Just becauseClark can walk and run today
doesn't mean by the time he's inhigh school, he won't need some
sort of mobility device to helphim walk around. On top of that,
they've they've been doing somereally great research and
helping, helping get funding forthat is, is key, because they're
looking at causation of thisright now. And ways they can at
(26:38):
least mitigate some of thesymptoms like maybe stop them
from progressing, if they can'tprevent Myrie. Altogether, let's
see if we can at least keep youwhere you are, and not let
things get stable. Right.They're doing a mouse model
right now, that's reallyinteresting that the mice that
had Myrie simulated in them werenot, the babies weren't
(27:00):
thriving, and they wereeventually dying. And they were
trying to figure out what'sgoing on. It turned out there
was a lot of mucus buildup intheir noses, and they couldn't
nurse so they couldn't getenough nutrition to survive. And
most people with miry also havea lot of mucus build up like
Clark is he's got a humidifierin his room all year round, and
steaming him out every morning,as soon as he wakes up. So why
(27:23):
is that? Well, they're lookinginto it now. And you know, is
it? Do they have seasonalallergies? Do they have? Are
they just for susceptible toupper respiratory infections?
Because he tends to catcheverything that's out there? You
know, or is it just mucus? Dothey just produce more mucus for
some unknown reason. But thatkind of that kind of research is
(27:46):
that's going to be reallyimportant for the whole
community. You
Dr. Brooke Mailhiot (27:49):
are so passionate and it sounds like
it's it's so much work, whatyou're what you're doing in your
life with everything else. Andsometimes that is also really
hard on a sibling. And how isyour daughter? How does your
daughter deal with this? Becausethis is a lot of work that you
and your husband, I'm sure dayin day out, are having to care
(28:13):
for Clark? And but yet, yes, youhave another child. So how do
you do another question? Likehow do you do it? How How? How
are you doing it with two kids?And then how are you still being
able to support your daughter.
Unknown (28:30):
So her first three years after Clark was born, she
was not happy. Not happy at all,because she was three years old
when he was born. And she wasthe only child before then.
Right? And she didn't get thatwarm, fuzzy. I get to cuddle
with my brother type of cominghome. It was we have this tiny,
(28:51):
fragile human. So sure sheresented it a lot. We that's
difficult. Yeah. And
Dr. Brooke Mailhiot (28:59):
it's easy to explain to a three year old
and a four year even now. Yeah.And it's
Unknown (29:03):
reasonable. I mean, sure. My sister resented me for
like 10 years. But we're onereally fortunate that my mother
in law lives close enough thatshe can be around during the
school week. So one that helpswith my work so that when when
the kids get out of school, shecan help but that
Dr. Brooke Mailhiot (29:23):
takes a village I said you can't do it
by herself. It takes a village.
Unknown (29:27):
And when Clark has all of his different therapies, she
can be with Daphne. But I foundthat I mentioned I walked Daphne
to school. That's one of themost important parts of our day,
in my opinion, because that is20 solid minutes to and from
school, that we get to just haveone on one conversation. There's
(29:48):
nothing else in the room todistract us. There's no one to
listen in on us. It's just us.And she's gotten to the point
where we'll start walking andshe'll look at me and go. So
what do you want to talk abouttoday? So it's like she's looks
forward to it. She
Dr. Brooke Mailhiot (30:02):
has that as her, her mommy and me time and
your email. It's so important.Yeah. I mean, that's so
important. People don't realizethose little moments where
everything else is away, you'renot distracted. Like you're
saying, you're just focusing onthem. And it's just about them.
Even if it's the silliestconversation. I'm sure you've
(30:23):
had some really fun times andthings in subjects and the Yeah,
I mean, I feel like a lot ofpeople don't realize that that's
such an important time. Yeah.
Unknown (30:35):
And I mean, even by dinner, you say, Hey, how was
school today, and you're fine.And that's it. But if you're
stuck with me for 20 minuteswalking, and you can't go
anywhere, and you can't pick upa book or anything, you're going
to talk to me, that's how I findout everything now.
Dr. Brooke Mailhiot (30:51):
Maybe some things you really want to know,
right? So during when we'retalking, I just wrote some words
down that just caught my earshere. Just us do it all support
system Miry progressiveresearch. And I use those maybe
as like kind of hashtags of ourdiscussion here. If you had a
(31:17):
hashtag to share abouteverything that you've been
going through this whole journeyso far, because I call it a
journey, because it's nevergoing to be over. What word
would you use?
Unknown (31:32):
That's a tough one. It's almost like, like Dory.
Just keep swimming. You know,like, you just you just put one
foot in front of the other everyday. And you don't you don't
know what's going to be there.But you're just going to keep
moving through.
Dr. Brooke Mailhiot (31:47):
I love that. Just keep swimming. I have
some cards here that are mysurprise cards. And I don't ever
know what they're going to ask.So we're going to flip over some
of these cards and they're goingto be fun, fun and exciting.
Okay. What in my life could usesome extra attention?
Unknown (32:13):
Oh, boy, by house, it's a mess.
Dr. Brooke Mailhiot (32:17):
I think that's for any version Any, any,
any family. Anytime, anywhere.What would you like to change
about the world?
Unknown (32:31):
Empathy, just greater empathy all around.
Dr. Brooke Mailhiot (32:35):
It's going, I agree. What is your favorite
mantra?
Unknown (32:42):
I don't have a favorite mantra.
Dr. Brooke Mailhiot (32:45):
But you have like a singing or word that
is like your your go to or otherthan your keep swimming, which
was great.
Unknown (32:53):
I don't but my my mom bought me a little sign to put
in when I still lived inPhiladelphia with this tiny,
tiny little backyard. That waslike barely even a backyard. But
I did, I planted a bunch ofperennials there and I had some
vegetables. And she got me thislittle sign to put in the garden
that said, I don't rememberplanting this. And we'd still
(33:15):
have it in our very large we'llhave we have two gardens now we
have like an actual ediblegarden and a butterfly garden
now that we're in the suburbs,but we still have it and I think
it's it's kind of a unique wayof looking at the world where I
don't remember planting this,but I'm still gonna care for it.
Now that it's here. I'm goingto, I'm going to see what comes
of it,
Dr. Brooke Mailhiot (33:34):
you're gonna keep watering it, you're
gonna keep keep at it. Andthat's what you've been doing.
You just have to keep going.Just like you're saying, keep
swimming. You just got to keepdoing it. It's beautiful. What
advice would my 80 year old selfgive myself right now? Sleep or
sleep more? Amen to that.
Unknown (33:58):
It's gonna weigh on you eventually.
Dr. Brooke Mailhiot (34:01):
I totally I totally agree. Well, I wanted to
say thank you for sharing, aboutClark's condition about Miry
syndrome. Hopefully, everyonecan go and learn a little bit
about it. I know you have someof your own little bake sales
and things that you do. Is therea socials that they can find you
at Facebook group that they canlearn more at? Would you like to
(34:25):
share that with our audience?
Unknown (34:26):
So the foundation that does all of the fundraising and
awareness work is my recentdrum.org. And that's m
YHRE syndrome.org.
Dr. Brooke Mailhiot (34:38):
Thank you so much again for joining us. I
really appreciate you sharingyour story. I'm so happy that
you're here in the rcbccommunity. I'm so happy that you
shared your story, your lifeyour dreams. We wish the best
for you and your family and sendour love to Clark and send our
love to Daphne. Thank you. Takecare. Thanks. You've
Jason Varga (34:57):
been listening to the rcbc bareness podcast. which
highlights women in leadershipwhile encouraging listeners to
build their skills, connect withthe community and visualize the
opportunities available to womenin various professions. For more
information about this podcastor other podcasts available on
the rcbc Podcast Network, visitrcbc.edu/podcast. And be sure to
subscribe to the rcbc barenesspodcast available on all
(35:19):
streaming platforms.
Welcome to Rowan College a Burlington
County's Baroness Podcast. I'mDr. Brooke Mailhoit program
chair and assistant professor ofour entertainment technologies
department. I am the co chair ofthe Women's Advocacy Group a
subcommittee of the President'sAdvisory Council on diversity,
equity and inclusion. Thismonthly series highlights women
(00:21):
in leadership while encouraginglisteners to build their skills,
connect with the community andvisualize the opportunities
available to women in variousprofessions. Tune in for a
female perspective on theBurlington County community. We
are here to listen to theseamazing women and if you want to
hear from women who lead andinspire this podcast is for you.
(00:45):
Welcome to November, it is timeto be thankful we are close to
the holidays. And today, I amthankful for all the wonderful
women and networking that I getto do and today our guest is
Jessica Simkins, a professor oftheatre at rcbc. She's a master
(01:07):
in fine arts and stagemanagement. And she has over two
decades of experience stagemanaging professional theatre
and dance productions. She isserving as the managing director
for a nonprofit theater inPhiladelphia for over 10 years
and is the mother of twofabulous children. Her youngest
Clark has an ultra rare geneticdisorder called Myhre Syndrome.
(01:30):
And to date, there areapproximately 200, you said,
diagnose cases of my recent drumin the world, and we're gonna
get to that. But first, I justwant to say, thank you so much,
Jessica, for being here on theBaroness podcast.
Unknown (01:46):
Thanks for having me.
Dr. Brooke Mailhiot (01:48):
You know, we met by chance, and I always
say it's like this diva, thiswomen's network of how like you
meet people in your life, andyou never know how they're going
to change or, you know, bringyou into different avenues and
different sectors into yourlife. And ours was kind of a
happenstance. Our two girls werein preschool together. And I
(02:09):
don't know why I was there. Iwas waiting for something. We
were both in the foyer and Istarted asking you like what you
do. And then I was like, Hey, Ithink you might want to come to
rcbc. And like possibly teachmaybe be an adjunct, right? We
were like chatting, and Iconnected you. And then now
you're here. How long have youbeen here?
Unknown (02:28):
So that was in the fall of 2019. And I've been here
since that next semester, and2020, quick,
Dr. Brooke Mailhiot (02:35):
quick pickup quick changes. Why do you
like rcbc? Because I thinkthat's an interesting question I
ask a lot of, of our adjunctsthat it's, you know, it's a
unique space, because it is acommunity, but what is it about
rcbc that you enjoy the most.
Unknown (02:54):
So the other times I've taught, it's usually with
students that are specificallylooking into going into theater,
that it's their major, orthey're already getting their
masters in it. And when I comehere, I'm getting to teach at
community people who maybe havenever even seen a play before.
And this is their firsttouchstone to theater and being
able to ignite that spark inthem, or even just help explain
(03:16):
what that play meant. It's it'sunique, it's a new experience.
You
Dr. Brooke Mailhiot (03:20):
have a wealth of experience in in the
history of I know in Philly, inthe suburbs of Philly in the
theater district. Can you justgive us a quick background? I
know I shared a little bit but aquick background of of your
experience in the industry.Yeah.
Unknown (03:35):
So I started stage managing in Kansas City while I
was getting my masters over atthe Kansas City rep and the
actors theater of Kansas City,and with the Kansas City Ballet
doing, doing the Nutcracker,there is a beast. It's a fun
fun, Beast. Sure. And then whenI graduated, my husband and I
moved to the Philadelphia area,because he's from around here.
(03:59):
I'm actually from SouthCarolina, there's not a whole
lot of professional theaterthere.
Dr. Brooke Mailhiot (04:03):
So I would think right here in the tri
state area, you got a lot oftheater going on.
Unknown (04:07):
I didn't have to look very far. Yes. So I continued
stage managing and landed intoan administrative job for a
company called Amaryllistheatre. And their whole purpose
was to be the most accessibleTheatre in the Philadelphia area
both in in their audience andhow they accommodated them. And
(04:27):
in the people who were in theirplace, from the designers and
technicians to the performers.It was they also provided a lot
of education to the other arts,organizations and community on
how to be a more accessibleorganization. And that was
incredibly fulfilling. And fromthat, another theatre company
saw what I was doing there andtook me on as their managing
(04:48):
director. And I stayed at thehelm of that group for 10 years
until, oh, about six months intoCOVID and then I took a step At
Dr. Brooke Mailhiot (05:00):
back, you used a beautiful term of
accessibility. And I think I'mgoing to use that word now on to
some of the work that you'redoing for your son Clark. And
that's, you know, your, your,your baby to you and providing
access and care and education,to a lot of people that don't
(05:25):
know about my recent drum. Socould you? I know, it's probably
a long story. But could youstart about how you knew that
there was something happeningwith Clark, and then how you
learn and I know it was a longprocess for you to try and find
out about my Re and there's nota lot of people that are dealing
(05:49):
with this. Start from thebeginning when
Unknown (05:52):
Clark before he was born there, the ultrasounds are
showing some abnormalities. Andthe original the hospital we
were at, was perfectly fine withmy first child who came out
perfectly typical. But they keptsaying there's unique things
here. We're not sure we think hemight need emergency surgery as
soon as he's born. And we don'tdo that here. So we would fly
(06:15):
him medivac, to Wilmington,Delaware, to do it at Nemours.
And my first reaction is, I'mnot going to stay in
Philadelphia, while my baby'sgetting surgery in Delaware.
What options do we have to beable to do that surgery in a
hospital? Sure. And someone saidto me, Well, have you? Have you
thought about having your babyat shop? And like, No, you don't
(06:39):
have babies at CHOP, you bringbabies to chop, right? Fun fact,
they have a special deliveryunit, they have two delivery
rooms total in the wholehospital and three recovery
rooms. The mother has to beextremely healthy, because they
don't have the facilities totake care of an adult if
something goes wrong. Right. Sohospital Children's Hospital.
(07:02):
And so they went through a bunchof tests for my, my baby before
he was born. But they also did alot of testing on me to make
sure that I was healthy enoughto deliver there. They have a
little room in the middle of theto delivery rooms with a window.
And all of the equipment theycould need, should anything go
wrong. And once the baby's born,they just pass the baby through
(07:23):
the window. And there's a wholemedical team there ready to
examine them. It was unreal, I'm
Dr. Brooke Mailhiot (07:28):
sure I mean, even if you were a second
time, mom, anything that youhear, there's something in
something wrong with your baby,you're going to need emergency
surgery and all these things. Imean, I don't even know the
stress. You know, mentalemotional, I mean, what were you
going through? because not a lotof women talk about that? Like,
(07:50):
how did how are you handling it,you know, you're pregnant? Your
baby's not even out yet. And youhave all this weight? Like a
Unknown (07:59):
lot of research. I'm a fact based person. And most of
the people in my family work inthe medical industry. I'm the
outlier. There.
Dr. Brooke Mailhiot (08:07):
So like I got the theater managing Can we
do a little, you know, show onthe side, but yeah, no data
facts, no health facts, nomedical, you know, education.
Okay.
Unknown (08:18):
So just a whole lot of if and then and just taking
notes and getting secondopinions. And once. Once we, we
were we found out the day thatwe were supposed to be induced
at the other hospital, that wewere allowed to be delivered at
CHOP. Wow, we actually had ourbags packed and we weren't sure
if we were leaving all go toDelaware.
Dr. Brooke Mailhiot (08:40):
Yeah, or Willie, like where we go.
Unknown (08:43):
But it happened. And he did surprisingly did not need
surgery when he was born. But hedid about 10 minutes after his
born crash really hard and needlike every intervention
imaginable. Sure. So we spent 17days in the NICU and, you know,
slowly weaning him off of all ofthe medical supports, and he
(09:04):
came home with nothing but kneeand a scale to make sure he gave
the right amount of weight. So
Dr. Brooke Mailhiot (09:10):
what are some of the symptoms that are
seen? Post obviously, that youhad him and some of the symptoms
when he you know, if he washitting those mile markers and
as he was growing what what weresome of those symptoms that you
were seeing that you're like,Okay, we can take this off the
table this off the table, hedoesn't have any of these and
(09:31):
you're seeing all thesespecialists and they they have
no clue or they're Missdiagnosing left and right and
sending you to a specialist.What I mean what's happening
then post this 17 days in NICU,you're bringing him home. So
Unknown (09:45):
while we were at the hospital, still they had
actually the head of thedepartment come and check out
Clark because he was such aunique scenario. Sure. And they
ran all the blood tests theycould to see if there was any
And a genetic difference. Butthey were just a standard blood
test and nothing came up. Andthey said, We think there's
(10:06):
possibly something there, butcome back when he's a year old.
So we went home, he had, youknow, some feeding issues, it
was really hard for him to nurseor take a bottle in general. But
we managed to get through that.And then he hit six months, and
they said that he just wasn'tgaining enough weight for them
to be happy. Other than that, wedidn't notice a whole lot in
(10:29):
that period of time. Theydecided he had failure to
thrive, which is a veryarbitrary designation shortly a
number of different things.Exactly. And they started him on
NG tubes, which is just givingextra nutrition through the
nose. They didn't know at thetime his diagnosis, which
includes being small. So no, hewasn't growing at the rate of a
(10:52):
typical person, but he was notsupposed to his body's not built
for that. So they actuallyovercorrected. And he gained a
lot of weight that he shouldn'thave. So that that's another
challenge. Yeah, that took a lotof meat pushing, and just
saying, I'm not doing thesefeeds anymore. Like I see this
as uncomfortable for him.
Dr. Brooke Mailhiot (11:10):
Sure. I listen, it's that motherly
instinct, a lot of people don'treally take note of that. But
like, we have this motherlyinstinct, and you thank God that
you stood and advocated up forthat. We did get
Unknown (11:25):
him into early intervention, though, because he
had global developmental delays.So he was getting pte. He was
getting ot he was gettingspeech. It turned out that his
ears weren't draining properly,there was a lot of fluid in
them, which was preventing himfrom hearing well, which causes
speech delays, sure. And when wefinally hit that one year mark,
(11:48):
and we went back to thegeneticist, they do all this,
these tiny little measurementsof like how far your eyes from
your nose and how like, what howdeep is your nose, like, it's
like, there's a lot of physicaltraits that you see with someone
with miry syndrome, similar tosomeone with Down syndrome,
where you look at them when yougo, I can tell this person has
this syndrome. But with so fewpeople in the world, not
(12:11):
everybody knows what that lookslike I can I can pick them out
of a crowd now that I know thatI'm a parent of someone who has
it. So this geneticist had seen,I think two other people already
who had my race syndrome, andshe thought this might be it.
The only way they could diagnoseit at the time was full exome
sequencing, which is takingblood from both parents and the
(12:35):
child. And they it's like layingall the pages of a book out and
making sure they're all there.And all the pages of the book
were there, but there was oneout of order. And that's the
SMAD for gene. And that's,that's the whole thing that put
everything into the put the ballin motion and why he's
(13:00):
different. There's a couple ofdifferent genetic disorders
related to that gene. But and soit's on a specific chromosome
that causes this geneticdisorder. So
Dr. Brooke Mailhiot (13:12):
you had told me that some of the common
characteristics of Myriesyndrome are short stature,
characteristic facial features,small eyes, small mouth,
prominent chin, intellectualdisabilities, and or autism,
hearing loss, limited jointmobility problems with lungs and
airways, problems with heart andblood vessels thickening skin,
(13:33):
where is now Clark in hismanagement of this in medical
care, there's, there's not acure of any sort. This is
genetic disorder of this gene.Where is he at now with his
health.
Unknown (13:51):
So we are one of the luckier families and they tell
us that every time we go,there's a clinic in Boston at
Bass general that is actuallystudying this genetic disorder.
It's the only clinic in theworld that's studying it. So
again, we're really lucky to bewhere we are. It's not to get to
Boston, and we see them everytwo to three years, and a
(14:14):
smattering of specialists thatare studying the differences.
The different things that can gowrong with miry. Just check in
on him make sure he's doingokay. His lungs are great. And
he sleeps a caveat better thananyone they've seen in clinic.
(14:35):
However, he does not sleep well.Okay. It's definitely hard for
him to fall asleep. It's hardfor him to stay asleep. But
compared to the population theyhave seen, he doesn't need like
medication to help him go tosleep really short. His heart
has a lot of unique features.His cardiologist is so
(14:58):
descriptive. He says it's likehaving a It's like, oh, you have
a freckle. And I don't have afreckle, you know, so it's
unique. It's interesting, butit's not going to impact a
medically right now. However,right along his left ventricle,
the the tissue there is thickerand spongier than a typical
heart, which can if it continuesto thicken, cause issues that
(15:21):
will cause it, the heart to havedifficulty squeezing properly,
sure, which they call leftventricular noncompaction. And
that could in the long runrequire surgery. The problem was
surgery and Miry is that the themain thing that is caused by
this difference is a propensityto fibrosis, and scar tissue. So
(15:44):
even the most minimally invasivething in the world could be
disastrous for someone withmiry. Like intubation, like a
breathing tube that you put downwhen someone's having difficulty
breathing, that could cause scartissue in the airway to make it
so that that person can'tbreathe well for the rest of
their life. So you hear, oh,this person needs heart surgery,
(16:07):
you think real hard about it.And you think about all the
other things you can do beforeyou take that step. Sure. But
like I said, he's doing okay,right now he's uh, he's toeing
the line of a medical diagnosiswith cardiomyopathy, but he's
not there yet. No restrictionson his physical exertion either.
So he can go run and play likeeverybody else, which is
(16:28):
fantastic. He definitely has thedevelopmental delays of like,
his, his speech andcommunication is not at a like a
typical appear level. So he cancommunicate needs and wants very
well. He is not shy about that.You're like, I know that. When
it comes to having like aconversation, that's a little
(16:51):
bit more difficult, challenging,
Dr. Brooke Mailhiot (16:52):
and, and he's obviously doing therapies
for these things. And you'retrying as much as you can to
push that forward. Absolutely.He
Unknown (17:00):
has therapy, four to five days a week of some sort,
but that's, you know, it'skeeping him progressing and have
what physical therapy,occupational therapy, speech
therapy, behavioral therapy, andwe are so lucky to live where we
are because Camden Countyactually has a huge Disabilities
(17:23):
Program. And they do a lot ofthings for people with special
needs of all ages. And one ofthem is horse therapy.
Dr. Brooke Mailhiot (17:30):
equine therapy. I know it's a really I
we actually, years ago, mystudents actually did a
documentary about a place inBurlington County, and you you
don't realize how beautiful thatis that, you know, they can just
be with the with the horses, theequines and just be themselves.
(17:55):
How is he enjoying that?
Unknown (17:56):
Oh, he loves it, he loves it, it's every other week,
and it's completely paid for bythe county, which is just
unbelievable, because that outof pocket on top of all the
other therapies he
Dr. Brooke Mailhiot (18:06):
gets, and I can only imagine, yeah, yeah,
but it so you
Unknown (18:11):
get that, almost like that dog therapy part of it,
where it's, you know, it's justemotionally supportive for them.
But they also it's buildingtheir core strength, because
they have to sit upright andbalance on that horse and their,
their hand eye coordination,they'll have like those velcro
darts in the balls, and they'llbe throwing it to that they'll
be doing like a beanbag tosses,it's all these different things
(18:33):
that are helping, like continueto work on range of motion in
their joints. And I don't know,because they're just having fun
on a horse, which is lovely. Oh,that's
Dr. Brooke Mailhiot (18:41):
beautiful. So with all these therapies, all
these things, being a mom,everything else, when when do
you sleep? periodically? Yeah,periodically. I've been, you
know, I think a lot of women whoare dealing with children that
(19:03):
are facing, you know, somemedical issues with their
children. I mean, it's, it'staxing social socially,
emotionally. How do you getthrough it? Like, where's your
like, where's your out? Wheredid where do you get to take a
breath? Do you take a breath?What are you doing for for you?
(19:24):
Because a lot of us, we don'thave time for us. I mean,
Unknown (19:29):
yeah, I built it in. When I stopped at the theater as
the Managing Director, I didn'thave to commute to Philadelphia
anymore. And I do a lot of mywork from home. So I drop off my
older child at school, and I runevery single morning before I
actually sit down at my desk andstart work and that is that's my
(19:50):
outlet. And it's been it's beenalmost three years now. Which so
it's it's helping me kind oflike take all the stress in my
world and just to leave it onthe street, and being able to
get fresh air and the sunshinelike it's it's incredibly
therapeutic. And then it'ssomething that's actually
healthy at
Dr. Brooke Mailhiot (20:08):
the same time. A lot of people don't
realize how much vitamin Dhelps. Oh, it's huge.
Unknown (20:12):
And yeah, my home, my home office is in my basement.
So I've got to get outside.You're
Dr. Brooke Mailhiot (20:17):
like, where's the sun? What would you
tell other women who are goingthrough, you know, Situ medical
situations and all this, youknow, dealing with anything in
their life with their childrenthat just, you know, it's
overwhelming. It's a lot to dealwith you, you know, you went
(20:39):
from, like, you're saying nomedical background? No, nothing.
I mean, to me when we werespeaking here, you you know, I
think you now have a master'sin, you know, every medical
doctor are known to man now.What kind of advice would you
give women who are going throughsimilar situations with their
(21:00):
children?
Unknown (21:00):
Don't do it alone. Like accept the help. Everybody wants
to say that they're strongenough? They can do it on their
own? They don't need the help.But even if you can, you don't
have to, and you shouldn't likeaccepting that.
Dr. Brooke Mailhiot (21:13):
Yeah, I think I think women we feel like
that's, that's making us lookweak. Oh, yeah. And why? Yeah,
and you're the mom. So it'slike, what? Why? Why should we
have to feel like that weshouldn't, we should be able to
rally and go and ask for help.And do you have like a network
that you go to? Do you havethose, those that group of I
(21:36):
call it like, my diva group, ormy mom's group, or my girls that
are always there for me? So
Unknown (21:42):
I have, we have a Facebook group for the
international community offamilies who have Myrie, which
is really good for informationand support. Sure. That's
actually I found that groupbefore we even sat down with the
geneticists, they, they werelike, we're not supposed to tell
you, but we're gonna tell youwhat it's called. And you know,
(22:03):
me, I immediately open up mycomputer, like, what is it? What
do we do? There's a clinic,okay. So that that's helpful.
But locally, I have a group offriends who have children with
special needs that run thegamut, you know, sure. It could
just, you know, be a learningdisability, it could be a
physical disability, but we'reall there just kind of
(22:23):
communicating. Yeah. Andsometimes, you know, whether
you're working with a doctorwho's not listening to you, or
dealing with an accommodationthat your student needs, that
for some reason isn't beingprovided, this is that that
tribe of mama bears who aregoing to rally behind you and
tell you how to navigate whatyou need to do.
Dr. Brooke Mailhiot (22:44):
That's wonderful that you have that
outlet, and all those people tosupport you. And I know that
you've been, you're now a boardon the board of directors for
the Myrie syndrome, how did youget involved in that?
Unknown (22:58):
They were looking for someone to help with some of
their marketing efforts about ayear and a half ago. And I said,
I can do that. But not I can'ttake it all on, I can help here
and there. And so I started ontheir marketing committee, and
then a year in they said, we'relooking to add some more board
members, would you beinterested? And I had to take a
(23:20):
deep breath because I like Isometimes have trouble saying
no,
Dr. Brooke Mailhiot (23:24):
I think we all have that, believe me, I can
raise my hand and say I have thesame situation. Can I fit it in
is always how do you do at all?That's what I'm saying earlier?
It's like, how do you do it all?It's a lot. And
Unknown (23:36):
we're doing it. It's It's working? It's happening.
And we actually now that they sothe foundation is only about
five years old. And they havehad they were supposed to have
their first in person conferencein 2020. Yeah. And that went
(23:56):
virtual. And ever since thenthey've done virtual
conferences, and this is for theinternational community. And
people, you know, there are somesignificant mobility concerns
for some of the people in thecommunity. So having them be
able to travel is difficult.Sure. But they are finally doing
(24:16):
their first in person conferencethis summer in July. And when we
started talking about it, likewhere should we have this?
where's a good place where,okay, it has to be accessible to
the national community. It hasto be affordable in terms of
hotels, like where can we dothis? And I'm like, why don't
you do it? And Philadelphia,like, yeah, this seemed like a
(24:38):
no brainer to me. And they werelike, well, let's look at some
other cities. Let's look at ouroptions. And then I sent them
information on some spaces inPhiladelphia, and they're like,
oh, that that is a no brainer.So I'm kind of the GSR ground
person for getting this goingnow, and it's exciting that I
have as soon as December hits,which is only a few weeks away.
(24:59):
I I'm going to have a lot to do.Yeah,
Dr. Brooke Mailhiot (25:02):
you got to the time management, the clock
is ticking then for a summerconference. What are your hopes
and dreams for moving forwardwith working towards this goal
(25:22):
and the assistance in gettingthe word out there about my
recent drum. So
Unknown (25:28):
I personally think that there's definitely more people
out there who have this syndromewho don't know, they either are
have their various symptomsdiagnosed, but not the
overarching cause. They may notbe in a community that has
access to the same level ofhealth care that we do. And you
know, there's a lot of doctorswho don't know what it is. So
(25:51):
helping, helping get theinformation out there so that
other people can finally get atrue diagnosis. And then work
from there is helpful, becausethis is a progressive syndrome,
all of these symptoms get worseover time, just because they
have, you know, just becausetheir hearing is fine today
doesn't mean that they won'thave significant hearing loss in
(26:13):
five to 10 years. Just becauseClark can walk and run today
doesn't mean by the time he's inhigh school, he won't need some
sort of mobility device to helphim walk around. On top of that,
they've they've been doing somereally great research and
helping, helping get funding forthat is, is key, because they're
looking at causation of thisright now. And ways they can at
(26:38):
least mitigate some of thesymptoms like maybe stop them
from progressing, if they can'tprevent Myrie. Altogether, let's
see if we can at least keep youwhere you are, and not let
things get stable. Right.They're doing a mouse model
right now, that's reallyinteresting that the mice that
had Myrie simulated in them werenot, the babies weren't
(27:00):
thriving, and they wereeventually dying. And they were
trying to figure out what'sgoing on. It turned out there
was a lot of mucus buildup intheir noses, and they couldn't
nurse so they couldn't getenough nutrition to survive. And
most people with miry also havea lot of mucus build up like
Clark is he's got a humidifierin his room all year round, and
steaming him out every morning,as soon as he wakes up. So why
(27:23):
is that? Well, they're lookinginto it now. And you know, is
it? Do they have seasonalallergies? Do they have? Are
they just for susceptible toupper respiratory infections?
Because he tends to catcheverything that's out there? You
know, or is it just mucus? Dothey just produce more mucus for
some unknown reason. But thatkind of that kind of research is
(27:46):
that's going to be reallyimportant for the whole
community. You
Dr. Brooke Mailhiot (27:49):
are so passionate and it sounds like
it's it's so much work, whatyou're what you're doing in your
life with everything else. Andsometimes that is also really
hard on a sibling. And how isyour daughter? How does your
daughter deal with this? Becausethis is a lot of work that you
and your husband, I'm sure dayin day out, are having to care
(28:13):
for Clark? And but yet, yes, youhave another child. So how do
you do another question? Likehow do you do it? How How? How
are you doing it with two kids?And then how are you still being
able to support your daughter.
Unknown (28:30):
So her first three years after Clark was born, she
was not happy. Not happy at all,because she was three years old
when he was born. And she wasthe only child before then.
Right? And she didn't get thatwarm, fuzzy. I get to cuddle
with my brother type of cominghome. It was we have this tiny,
(28:51):
fragile human. So sure sheresented it a lot. We that's
difficult. Yeah. And
Dr. Brooke Mailhiot (28:59):
it's easy to explain to a three year old
and a four year even now. Yeah.And it's
Unknown (29:03):
reasonable. I mean, sure. My sister resented me for
like 10 years. But we're onereally fortunate that my mother
in law lives close enough thatshe can be around during the
school week. So one that helpswith my work so that when when
the kids get out of school, shecan help but that
Dr. Brooke Mailhiot (29:23):
takes a village I said you can't do it
by herself. It takes a village.
Unknown (29:27):
And when Clark has all of his different therapies, she
can be with Daphne. But I foundthat I mentioned I walked Daphne
to school. That's one of themost important parts of our day,
in my opinion, because that is20 solid minutes to and from
school, that we get to just haveone on one conversation. There's
(29:48):
nothing else in the room todistract us. There's no one to
listen in on us. It's just us.And she's gotten to the point
where we'll start walking andshe'll look at me and go. So
what do you want to talk abouttoday? So it's like she's looks
forward to it. She
Dr. Brooke Mailhiot (30:02):
has that as her, her mommy and me time and
your email. It's so important.Yeah. I mean, that's so
important. People don't realizethose little moments where
everything else is away, you'renot distracted. Like you're
saying, you're just focusing onthem. And it's just about them.
Even if it's the silliestconversation. I'm sure you've
(30:23):
had some really fun times andthings in subjects and the Yeah,
I mean, I feel like a lot ofpeople don't realize that that's
such an important time. Yeah.
Unknown (30:35):
And I mean, even by dinner, you say, Hey, how was
school today, and you're fine.And that's it. But if you're
stuck with me for 20 minuteswalking, and you can't go
anywhere, and you can't pick upa book or anything, you're going
to talk to me, that's how I findout everything now.
Dr. Brooke Mailhiot (30:51):
Maybe some things you really want to know,
right? So during when we'retalking, I just wrote some words
down that just caught my earshere. Just us do it all support
system Miry progressiveresearch. And I use those maybe
as like kind of hashtags of ourdiscussion here. If you had a
(31:17):
hashtag to share abouteverything that you've been
going through this whole journeyso far, because I call it a
journey, because it's nevergoing to be over. What word
would you use?
Unknown (31:32):
That's a tough one. It's almost like, like Dory.
Just keep swimming. You know,like, you just you just put one
foot in front of the other everyday. And you don't you don't
know what's going to be there.But you're just going to keep
moving through.
Dr. Brooke Mailhiot (31:47):
I love that. Just keep swimming. I have
some cards here that are mysurprise cards. And I don't ever
know what they're going to ask.So we're going to flip over some
of these cards and they're goingto be fun, fun and exciting.
Okay. What in my life could usesome extra attention?
Unknown (32:13):
Oh, boy, by house, it's a mess.
Dr. Brooke Mailhiot (32:17):
I think that's for any version Any, any,
any family. Anytime, anywhere.What would you like to change
about the world?
Unknown (32:31):
Empathy, just greater empathy all around.
Dr. Brooke Mailhiot (32:35):
It's going, I agree. What is your favorite
mantra?
Unknown (32:42):
I don't have a favorite mantra.
Dr. Brooke Mailhiot (32:45):
But you have like a singing or word that
is like your your go to or otherthan your keep swimming, which
was great.
Unknown (32:53):
I don't but my my mom bought me a little sign to put
in when I still lived inPhiladelphia with this tiny,
tiny little backyard. That waslike barely even a backyard. But
I did, I planted a bunch ofperennials there and I had some
vegetables. And she got me thislittle sign to put in the garden
that said, I don't rememberplanting this. And we'd still
(33:15):
have it in our very large we'llhave we have two gardens now we
have like an actual ediblegarden and a butterfly garden
now that we're in the suburbs,but we still have it and I think
it's it's kind of a unique wayof looking at the world where I
don't remember planting this,but I'm still gonna care for it.
Now that it's here. I'm goingto, I'm going to see what comes
of it,
Dr. Brooke Mailhiot (33:34):
you're gonna keep watering it, you're
gonna keep keep at it. Andthat's what you've been doing.
You just have to keep going.Just like you're saying, keep
swimming. You just got to keepdoing it. It's beautiful. What
advice would my 80 year old selfgive myself right now? Sleep or
sleep more? Amen to that.
Unknown (33:58):
It's gonna weigh on you eventually.
Dr. Brooke Mailhiot (34:01):
I totally I totally agree. Well, I wanted to
say thank you for sharing, aboutClark's condition about Miry
syndrome. Hopefully, everyonecan go and learn a little bit
about it. I know you have someof your own little bake sales
and things that you do. Is therea socials that they can find you
at Facebook group that they canlearn more at? Would you like to
(34:25):
share that with our audience?
Unknown (34:26):
So the foundation that does all of the fundraising and
awareness work is my recentdrum.org. And that's m
YHRE syndrome.org.
Dr. Brooke Mailhiot (34:38):
Thank you so much again for joining us. I
really appreciate you sharingyour story. I'm so happy that
you're here in the rcbccommunity. I'm so happy that you
shared your story, your lifeyour dreams. We wish the best
for you and your family and sendour love to Clark and send our
love to Daphne. Thank you. Takecare. Thanks. You've
Jason Varga (34:57):
been listening to the rcbc bareness podcast. which
highlights women in leadershipwhile encouraging listeners to
build their skills, connect withthe community and visualize the
opportunities available to womenin various professions. For more
information about this podcastor other podcasts available on
the rcbc Podcast Network, visitrcbc.edu/podcast. And be sure to
subscribe to the rcbc barenesspodcast available on all
(35:19):
streaming platforms.
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