Joel's Mom and her mission to raise awareness about Duchenne Muscular Dystrophy

Rachel Poysky is Joel’s mother. Joel is living with Duchenne Muscular Dystrophy and she is raising awareness about this rare genetic disease which affects boys. There has been some progress in the past decade but a lack of awareness of the disease means there is great need for funds and new research. Current progress show that with research, a cure could be found and we talk about the quality of life for those living with the debilitating disease that weakens muscles, including the heart. While you listen to this compelling conversation, go to www.coachtocuremd.org and consider giving a few bucks. It makes a difference.

Episode Transcript

(00:06):
Welcome to Houston PA, Houston's publicaffairs show, an iHeart Media broadcast.
Our dismember says that the opinions expressedon this show do not necessarily reflect those
held by this radio station, it'smanagement staff, or any of its advertisers.
My name is Laurent I am theTexan from France and a proud Houstonian.

(00:29):
I love this city because it's fullof people who are constantly looking for
ways to help their neighbors. Itreally is a Texas spirit. It's alive
and well in Houston. Some peopleare trying to eradicate it with pessimism.
We're not going to do that today. We don't do that on Houston PA.
We're going to talk about a diseasewhich is rarely talked about, rarely
discussed. It's called duchene muscular dystrophy. Its name indicates, of course,

(00:52):
that it is a kind of musculardistrophy. It affects mostly young boys.
Girls can get it, but generallyspeaking they don't with a lot of symptoms.
It is genetically speaking, a sortof a recessive gene situation. And
we'll talk in greater detail about howwrong I am about that, because I've
just learned about the disease myself.But it basically means that a woman will

(01:17):
carry the defective gene in her DNA, and because it is recessive, it
doesn't pop up all the time.You have to have the right genetic circumstances
with the right mate for it toappear. It's I guess it would be
similar to having blue eyes, whereyou have to have two parents with the
blue eye gene. Otherwise, ifonly one of your parent has the blue

(01:38):
eygene, you're getting brown eyes.And that's the way it is, and
so it's these genetic diseases are particularlydifficult to diagnose and to discover because our
technology is so young. We probablydon't think about that very often, but
we really are, or just nowentering in some kind of modern age of
medical technology. And the progress thatis being made thanks to computer and the

(02:02):
advances and microtechnology and gene therapy andjust the accumulating knowledge that we are accelerating
into our society means that Douchen musculardistrophe, which used to be fatal within
ten years for these children and justa horrifying disease, is now turning into

(02:24):
the kind of disease that people surviveinto their thirties or forties. People living
with Douchen muscular distrophe are now moreand more commonly having kids even and getting
married. And the explosion of knowledgeand technology which has helped these young people
live with this disease has skyrocket inthe past ten years, and there's a

(02:46):
great deal of optimism to be hadabout that because we can expect that in
the next ten years we're going toextend life expectancy even more. In fact,
at this point, it's probably happeningon a year to year basis,
much like the disease of breast cancer, which back in the early eighties carried
a mortality rate that was catastrophic,which was over half of women diagnosed with

(03:08):
breast cancer would die of breast cancer. And we're never happy to hear that
our sister or mother has been diagnosedwith breast cancer today, but if the
detection was done early on, it'swe never even think about it being a
death sentence. It's going to bean unpleasant and arduous recovery, for sure,
but you can just surround the sickperson and make them better, and

(03:30):
that's what we're looking to do withother diseases that are under researched because of
a lack of awareness. So thisis what we're going to do, is
we're going to talk about this disease, put the idea out there for people
to remember it that Douchen muscular distropheis something that we're going to cure and
we should just do it as fastas possible. Will obviously, my name

(03:50):
is Laurent as I mentioned, andmy guest is Rachel Poisky. She is
a mother to Joel, who liveswith muscular distrophe. He just celebrated his
twenty first birthday, so happy birthday, Joel. And she is also a
pastor at Memorial Drive Presbyterian. AndRachel, like I said, there's a
lot of people that come out ofMemorial Drive Presbyterian that are involved in a

(04:13):
lot of different things. I'm notsurprised to hear it. You just kind
of get used to hearing certain organizationswhen you work with nonprofit organizations. And
you were explaining to me that,aside from Duche muscular dystrophy, you're involved
in donating half of your operating profitsto the community. Yes, yes,
a Memorial Drive. We Presbyterian.We've been committed to generosity since it's founding.

(04:36):
It was founded on that that wewouldn't be focused on ourselves, but
that we would give half away tooutreach. And so we're connected to a
lot of nonprofits in the city andlove that, love that partnership. Probably
over a hundred in the city thatwe connect with. So it's great to
be part of that. And Ithink it's just part of the Houston spirit.

(04:57):
You know, a church like thisshould be in Houston because that's how
the Houston people are. So we'rehappy to be part of that. Yeah.
Yeah, and we should also exportthis idea of being the way you
are, being generous and hard working. It's actually everywhere. We just need
to encourage it and to help itspread, right. Yeah, I mentioned

(05:18):
your son Joel just celebrate his twentyfirst birthday. What did y'all do?
Well, you know, we tookhim out to dinner and let him get
carted to get get a glass ofwine and just yeah, he just was
so excited to celebrate and we wereexcited to celebrate. He Joel has had
a rough years. He's in awheelchair full time, but it was able

(05:42):
to walk a tiny bit and inApril he was walking to his wheelchair and
fell and broke both of his legsand ended up in the hospital for three
weeks, and that could be deadlyfor a kid, would you shin.
So for us celebrating his twenty firstbirthday, you know, it was celebration
for many reasons. One because ofthat and two when he was diagnosed when

(06:04):
he was three, we were toldthat he wouldn't make it past sixteen.
So for us now every birthday isa big old celebration. We're just happy
he's here, happy that treatments haveadvanced enough to keep him here. So
yeah, so it was it wasfun and he ordered his glass of rose
and we had a good time.Rose good good choice, especially on a

(06:26):
hot day. That's what we liketo drink in the South of France.
Yeah. So you mentioned that hislife expecting scene when he was diagnosed,
I guess it was fifteen years ago. So he was diagnosed eighteen years ago
when he was three. Yeah,and that he would be around for just
a few years. And I mentionedthat there's been an exponential increase in the

(06:46):
life expecting sea of people living withjuchene muscular dystrophe. And I feel like
I'm just looking as a layman atthe data that life expecting sea keeps getting
longer and fairly fast. It's there'sthere's great, there's a great deal of
optimism to be had about this,but I don't want to gloss over the

(07:08):
fact that you're dealing with a horrifyingsituation. And I have to admit that
preparing for this interview, that's whathas made me nervous to treat it with
the respect that it deserves and totalk about something which is really hard to
relate to. Yeah, yeah,it's you know what's interesting about dushen is
your child's born and you look atthem and you count their fingers and toes

(07:30):
and you think, oh, okay, they're great. And then three four
years later, like for our son, he wasn't hopping, he wasn't running,
and we're like, something's off.My husband, who's a child nerrous
psychologist, kept saying something's off,something's off, And we went down a
path and found out he had duschenmesco or distrophe, which I had never

(07:51):
even heard of before. And yeah, it's like one moment the world is
normal and the next moment your worldcrashes. Is when you're staring at this
three year old and thinking I've gotthirteen more years with them. And of
course we immediately got on the internet, which is always a bad idea,
and we found we're looking for clinicaltrials and there were kind of one or

(08:15):
two in the works, but itwas still a long way away, and
so at that point our future waspretty grim. We started him on about
a year endo diagnosis on steroids.He's still on them. It's not a
great solution, but the doctors werelike, this is all we got.
We got to do it. Sohe's been on that regiment and he takes

(08:37):
about, you know, twelve orthirteen pills a day and mostly steroids or
other painkillers, supplements, heart medications. You know, the main thing about
Juschen is we talk about they youknow, they are diagnosed three or four,
they usually stopped walking. Well,historically they're getting better, but historically
they stopped walking at ten or twelveand lose their lives in their teens.

(09:00):
But anyway, but now you know, we're doing better. But what I
was going to say is we alwayslook at a walking is kind of the
issue, but what ultimately can taketheir life as their heart. Because your
heart's a muscle, it affects everymuscle in your body, Duchen does.
It's they're missing the distrephin gene,which when you this is a layman's terms,

(09:20):
but when you exercise, you know, you tear your muscles a little
bit and then they get put backtogether. And for the discrepants, what
does that. But for Duchen,they don't have that distrephan to put their
muscles back together, so they developscar tissue in every muscle, and they
develop scar tissue in their hearts.So a lot of his meds or heart
medicines and things like that to tryto be proactive to keep as hard as

(09:43):
healthy as possible, and so,yeah, a lot of different things,
but heart meds are some of thebiggest things we take. I hadn't thought
of that because of my impressions ofmuscular district in general. You think of
someone who has small arms and smallleggs because of the disease. But yeah,
the heart is a muscle and it'sit's the most important muscle. It

(10:05):
keeps the pressure in the entire body. Yeah, and he's constantly exercising and
repairing itself, right, So you'rehaving to use medication to help the body
repair the heart on a daily basis. Yeah, it's kind of pro We
try to be as proactive as wecan, and that's part of where the
treatments have come to say, weknow the trajectory of the disease. It's

(10:26):
kind of his cardiologist said to meone time, we're not going to wait
till we see heart damage. Weknow he's gonna have heart damage, so
let's get ahead of it and starttreating it before he has heart damage.
And that's been very beneficial for Joel. We kind of took a risk.
Even at the time when we startedin my heart meds, a lot of
doctors weren't doing that and we justhad it in our gut and we found

(10:48):
a doctor that you know, listento us and said, yes, let's
go ahead and start these. Andwe had a cardiologist the other day that
said, you know, you gambledand won because you started these heart meds
early, and that's helping him.So we're and I think kind of back
to your point about the disease ishard. It's hard to watch your especially

(11:11):
you know, usually boys just deterioratebefore your eyes, and one day they
can lift a cup to their mouthand the next day they can't, and
that's a hard thing to watch,but I think there's also hope in it
as well that we have seen.Like I said, we use first diagnosed
Harlany clinical trials. Now there's probablya hundred clinical trials, and we had

(11:35):
a couple of boys. We've hadsome of our younger boys four and five
with a certain genetic mutation of mesclodystropheget diagnosed with gene therapy and that's really
exciting. So so there's hope.It's horrific and there's hope. That's what
I always say. You are listeningto Houston PA, Houston's Public Affairs show.
My name is Laurent. My guestis Rachel Poisky. She is the

(11:58):
mother of Joel, who is livingwith Douchen muscular distrophe, and she's also
a pastor at Memorial Drive Presbyterian.We should mention that you can go to
this website to follow along and getmore information about Douche muscular distrophe. Coach
to cure MD dot org. Coachto Cure MD dot org. It'll take

(12:20):
you to a website is very informative. It's also a place where you can
donate. Rachel just mentioned these clinicaltrials. You say there's over one hundred
of them. The reason there aren'tover two hundred of them is because most
people have never heard of this disease. And those of us who could as
a community contribute five dollars and raisea lot of money, we don't know

(12:41):
to do it. And those dpodcasts, those corporations, they're led by
people, they're just like us,and they don't know how to do it
either. So it's really important toget the idea out. It's really it
is about that, maybe you don'thave anything to give right now, but
to have this information and to beable to recall it when it comes up,
and uh, well, really you'resetting yourself up to be in a

(13:03):
position to help one day. Uh, because if you know about something,
then you're likely to have an answerfor it. Really, even if the
answer is, oh, yeah,I'd like to help with that, Rachel.
We we we should, we shouldsort of define what the disease is
and does. We've already mentioned thatit attacks the muscles and causes them to
keep from mending. They don't.They don't repair themselves the way you're in

(13:28):
my muscles do. So the patientsdevelop scar tissue on their muscles, including
their heart. But generally speaking,it's a it's a genetically disease. It's
a genetic disease. There's I meanyou're just born with it. There's there's
there's We don't have any power overhow it spreads. Correct. Yeah,
it's it's called an X linked disease. So you know for boys, they

(13:52):
if you go back to your geneticstextbook, Uh, boys only have one
X, you know, and thenwhy girls have two x'es. So that's
why it's primarily a boy's disease becauseif the X is defective for the boy,
there's no there's no second X topick up the slack. It's always
inherited through the mother. Uh.But some moms are carriers, which means

(14:16):
it'sn't they have one healthy X andone not healthy X. And it's a
fifty percent chance are they going togive their child, their son a healthy
X or the unhealthy X. Andif they give them the unhealthy X,
they have duchen. But also it'sinteresting, for example, I'm not a
carrier. They they haven't quite figuredout all the ways, Yeah, that

(14:37):
you can have a child with duchinit. So you do not have the
X. I do not have adefective X No, so uh, you
know they call they I'm I'm abovemy science here, but trusia. Yeah,
but in la terms that you know, maybe eggs were affected. A

(14:58):
mother's eggs could have been affected,some of them affected, some of them
not affected, and those that werebecome a juchen and a boy or in
a girl, they would become acarrier. So for example, if Joel
had been a girl, she wouldbe a carrier of juchen. We wouldn't
have known it, most likely unlessshe was a manifesting carrier, but that's

(15:20):
not as common, so we wouldn'thave known it unless she had a boy.
If my daughter had a boy,yeah, or if Joel was a
girl and had a boy. Uh, that then that was when it would
find out and to you know,a generation later. So it's really an
interesting sort of disease that either itfor some families they know and it's been
in their family, and for others, such as my family, it's a

(15:45):
brand new thing. So yeah,so you you we're talking about the possibility
of your body's biology making a mistakeso to speak, as it was producing
eggs. Actually, no, womendon't produce eggs, are born with their
eggs. Right, So it's theprocess of distributing the egg I'm not using

(16:06):
very good scientific words here. I'mnot trying to be funnier flippant here.
Yeah, but the eggs drop outof the ovary and into the uterus.
It would have been when my motherwas pregnant with me, right, those
those eggs that were formed. Yeah, yeah, that and that's kind of
the second way there may have been. You know, there may be some

(16:26):
other like ways that it happens.I don't know, through a conception process
or whatever. I'm not sure.I'm I'm that's way but my pay grade.
But but definitely, in an exampleof our case, most likely it
came from defective eggs. Yeah,but not My genetic makeup is not defective.

(16:48):
So that's one of the things weneed to figure out, and that
it would be it would seem tome to be. It would be hard
to study because, as you said, it's you don't really diagnose for it.
People aren't looking for it yet.Although we can imagine a future where
a mother could be screened for allkinds of things, we already do such
screenings. They kind of look intointo the viability of babies and how they're

(17:11):
doing in the womb. Yeah again, awareness and research. So if you
go to coach to Cure MD dotorg Coach to Cure MD dot org,
you can find out more about this, but you can participate in growing the
awareness about duchene muscular dystrophe and toliterally personally help to find a cure,
because that's what you're doing when you'redonating to research. Those researchers are literally

(17:34):
dependent upon people like us in thecorporations that are willing to take on these
subjects and say I'm going to spendsome of my heart earned cash and energy
to do this. You mentioned,Rachel, you mentioned gene therapy, and
this is something that we're talking moreand more popular podcasts everywhere. They're even
talk about sending their parents to Mexicoor Panama to have gene therapies of all

(17:57):
kinds. And finally, there's theadvent of neuralink type of technology where we're
literally going to implant technology, hardwiredtechnology into human beings. We're already working
like that, and I see,I would say that that is another reason
why we can be optimistic, becausewe may be able to simply just replace

(18:19):
we have artificial hearts after all.That's that's one example, and an artificial
heart was completely unimaginable in nineteen forty. By the way, that's another example
of something that is we take itfor granted that you can put a pacemaker
in somebody's body. This was unheardof and would have been considered witchcraft in
nineteen hundred. Yeah, so considerthat how fast it works, how fast

(18:40):
a technology can can develop. It'sreally worth talking about these things and funding
them. But to talk about genetherapy a little bit, what does that
look like You're you've already mentioned thatthey're usually using these tests and these test
studies on younger kids. Yeah,so, I mean there's been several things
that have been happening over several years'exon skipping drugs, which you know because

(19:03):
basically for someone with dushin, theythe vast majority of them have a deletion
in the gene, right, andso there have been some exson skipping drugs
that kind of skip over the deletionto try to produce distrophin. And the
biggest goal is to have a microdistrophingene put into the distrophin gene, the

(19:26):
one with the X. On skippingit has to be the exact spot,
you know. For so, forexample, my son Joel, where where
the deletion is on his gene,he is not a candidate for x on
skipping, right, but for amicrodistrophin for them to do that, that
really would serve most of the population. So I think that's one place where

(19:52):
they're trying to go with gene therapyand some of the younger boys, you
know, they have to use aviral vector or something to get get it
in. And if an older boyhas been exposed, you know, and
exposed to that virus, than thatthey're not a canon anymore, right,
So a younger a younger boy wouldhave more of a chance to be able

(20:14):
to use that viral vector to getinto I'm way of them my pay grade
at this point. All the all, my doctor's gonna be calling me here
saying you didn't say that right.Well, no, it's just a reason
to go to coach to cure MDDOT or RG to find out more.
But I think that I generally understandwhat you're saying. We need to essentially
edit the genetic composition of these people'sbodies where we are walking bags of chemical

(20:38):
reactions. After all, it's a. It's a gross way of describing humanity
are biologically speaking, right, uhand so, but the idea that the
delivery of these gene therapies through avirus, and they're using basically the biotechnology
that the virus has developed by mothernature right there, of how it's spreads

(21:00):
and how it attaches itself into ourbody. That's what she's talking about.
But obviously, yes, if thechild has received has has gotten the disease
the virus, and I don't knowwhich one they use, but if they've
developed the antibodies, then their bodyis just going to outright kill your gene
therapy and then you won't be ableto help them. Yeah, yeah,

(21:21):
yeah, but I would say too. I think what's really important is in
the short term, there's kind ofa cocktail of drugs that help that are
helping Joel. You know, we'vehad done such great research in heart disease
and shin boys and girls are benefitingfrom all that research and heart heart medicines

(21:44):
because that really helps them. Andso there's a lot of different ways,
and like with steroids, like Itold you, he's on a steroid,
and hopefully we're going to get asteroid with fewer side effects. That's our
goal next. But all of thisresearch is moving the entire thing forward,
and that's what I'm grateful for.So G therapy, and it's kind of

(22:07):
one of those things where you don'twant to hope too much. You know
it's coming, that you to sitaround and wait for it tomorrow is a
little difficult. And also, likeI said, you know, between I
think for the younger generation of Jushenkiddo's we've got some really good stuff.
I think Joel obviously was better thanthe last generation of Dushen kiddos, So

(22:32):
that's exciting and hopeful. And youknow, for us with when my brother
and I started koshe kurem D,it really was let's just change the landscape
of the disease. And for me, that's what I've always said, is
even if I lose Joel early orwhenever, you know, maybe that day
might come, I want Joel toknow that I fought for him, and

(22:55):
that I fought for every child withJushen and I think in that respect his
life has great meaning and that's soimportant. I think that's so important for
all of us that we don't wasteour life on something. But that we
say what have I been given?And how can I contribute and make a
difference. And so for me,when I see these younger boys getting a

(23:18):
dose, I'm like, man,we've done it. We've gotten Yeah,
we've moved, We've moved the needle, just moving the needle. And I
always say, every day we're onestep closer to a cure. I don't
know how many days it's going tobe, but we have to keep moving
that needle forward because we have somany kids that depend on it. And

(23:41):
you know, every day more kidsare diagnosed with dushin. So I can't
wait for the day that parent walksin and you know, sits down and
they get the diagnosis. But thedoctor says, but you know, this
is a chronic condition and we've gotall kinds of medicines to treat it,
and your child is going to livea long, full life. And that

(24:03):
that's the day I look forward to. Well, we did it for HIV
and AIDS, and that was somethingthat was also considered just a death sentences
as soon back as the mid eightiesearly nineties. Yeah, and now it
is just a chronic disease. Yeah, but it doesn't it doesn't sweep under

(24:26):
the table the amount of suffering andhardship. You've already mentioned that Joel is
doing his own research and he hehas participated in a in a data research
right he was so to the pointof making your life worth something. There
you go, you've passed on thatvalue onto him. But how does he

(24:47):
talk a lot about it? Ishe is he? Is it something that's
on his in his conversations a lot? Or does he just try to live
his life as best he can?You know, I think he he is
developed. Well. I've told himfrom the beginning, I said, you
know, because let me start withboys with boys and girls with dushin.

(25:10):
They can have some cognitive issues.Sometimes they're higher risk for autism and maybe
add and things like that, butin general, you know, they also
are able to just to be inschool, to go to college, all
those things. And so I've toldJoel Joel from the beginning, I said,
you are to be the voice forthe disability community. I said,

(25:33):
you are to speak for people thatcannot. And he's really taken that to
heart. He's pursuing special edit andcommunity college right now, working towards a
special ed degree. And I thinkthat for him. What he really wants
to do, if you asked him, was to make a world where people
with disabilities are normal and are seenas normal. And that's really important for

(25:59):
him. I think so many timeswe see someone with a disability and we
have pity on them, or youknow, we feel sorry, we feel
like just or we don't want totalk to them, or we don't know
what to say. And he reallyreally wants a world where her people disabilities
are just people. So that's howhe tries to live his life, for

(26:21):
sure, as to live life normal. It is a hard disease. It's
hard when you see, you know, your friends going off to college and
all those things and playing sports.And so I would be wrong to say
that, you know, he's hedoesn't have hard times, and he's lost

(26:41):
two of his best friends to thedisease and that's really difficult. But at
the same time, he's he's resilient. There's a resiliency I think that comes
with having to fight a disease everyday and getting up and saying I'm going
to do it again. So yeah, So I think for him, he's

(27:03):
trying to figure out at this point, how do I normalize disabilities and then
to be a champion for those whichI'm really proud of him for that.
So, what would you say isthe best way to approach someone with a
disability, because, as you mentioned, we our natural reaction is to feel
pity and to feel some discomfort aboutthe subject, which is going to be

(27:26):
underlying everything we do and say tosomeone with a disability, what is the
best way to approach these people?Do we just ignore it and talk about
movies and the normal things of life, which I think is what you're telling
me. Joel wants. Yeah,I want to. I don't want to
come out here and talk about what'sgoing on with me. I want to

(27:47):
talk about the movie, the food, or just yeah life. Yeah.
So, But at the same time, I feel like if we ignore the
disability completely, if we don't sayanything, is that implight I don't know.
Yes, it's difficult to gauge,and of course everybody's going to feel
differently about it. Yeah, Ithink I think it's kind of some of
both. I think it's treating themnormal, and then you know, at

(28:12):
the same time, you know alot of times they're open to questions,
just asking a question, and eventhough sometimes you know, I say you're
gonna get it wrong, You're gonnasay the wrong thing. That's okay.
I think people with disabilities know ifyou're trying to get to know them as
a person. And that's what Iwould say is it's always look at the

(28:33):
person first and the disability second.So start with the person and then then
see their disability after that and sayhow does that, you know make them
who they are? But start withthe person first. You can go to
coach to cure MD dot org.Coach to Cure md dot org a plethora

(28:56):
of rusal information on duche muscular disctrophee to raise awareness about the disease,
Encourage people to donate to research,Encourage researchers to realize there's potential for money
coming in for research. That's howresearch gets started, by the way,
it's somebody who knows a doctor who'sdoing research on this subject and they're also

(29:17):
interested in it, but they didn'trealize that they could get any money to
do it, or maybe they triedfive years ago, six years ago when
nobody knew about the disease and theycouldn't do it. We as a community,
we can do a lot just byknowing that something is happening, and
every once in a while, evenjust given five dollars makes it different.
You know, there's there's over fouror five million of us in the Houston

(29:37):
area. That's a lot of money. If many, if a small percentage
of us just give five dollars,we're raising money that is life changing and
for countless people. So go tocoach to cure MD dot org. Coach
to cure MD dot org. Andif you have any questions related to Houston,
PA, you can just send meany email. I'll direct you to

(30:00):
the right person if I can't answerthat question. Texan from France at gmail
dot com. Texan from France atgmail dot com. Rachel, thank you
for coming and talking to us aboutthis. And happy birthday to Joel who
just during twenty one is drinking rosewine. I approve that is if it's

(30:21):
a better way to spend your twentyfirst birthday than I did, because I
actually don't remember it. I'm Frenchand I've been drinking rose wine since I
was fourteen A lot, right,folks, Thank you for listening and caring
about the issues I put on thisshow. I'll see you next week at
the same time. My name islaurent I am the Texan from France and

(30:42):
this has been Houston PA, Houston'spublic affairs show, Houston Strong,