May 2, 2024 • 12 mins
The Traveler's Championship at the TPC River Highlands enjoyed June 17th - 23th
Rachel DeConti is the Executive Director of the Limb-Girdle Muscular Dystrophy Foundation (LGMD2D) and shares how you can support their mission through Birdies for Charity with The Traveler's Championship! Listen to our interview below and get connected to Birdies for Charity!
Formed in September 2013, the LGMD2D Foundation is a registered 501(c)3 non-profit foundation built for families living with LGMD2D - both patients and caregivers - by families with the same diagnosis. Our mission is to expedite the development of treatments or a cure for Limb-Girdle Muscular Dystrophy, type 2D / R3 (LGMD2D).
Rachel DeConti is the Executive Director of the Limb-Girdle Muscular Dystrophy Foundation (LGMD2D) and shares how you can support their mission through Birdies for Charity with The Traveler's Championship! Listen to our interview below and get connected to Birdies for Charity!
Formed in September 2013, the LGMD2D Foundation is a registered 501(c)3 non-profit foundation built for families living with LGMD2D - both patients and caregivers - by families with the same diagnosis. Our mission is to expedite the development of treatments or a cure for Limb-Girdle Muscular Dystrophy, type 2D / R3 (LGMD2D).
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Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
(00:00):
Her communities. Thank you so muchfor listening. We are proud to be
a part of Bertie's for Charity.Now through end of play June twenty fourth,
you can donate to your favorite charityat Travelers Championship dot com. Click
on Bertie's for Charity you can scrollthrough all of the nonprofits that are taking
a part of it. That willearn fifteen percent of every dollar that has
donated thanks to the sponsor, WebsterBank. One of those incredible charities,
(00:23):
LGMD two D Foundation. Who arethey, what do they do? How
do they help? Well, wehave their executive director on the line with
us, Rachel Decanti, who's goingto tell us all about it. Hello,
Rachel, hi Jinan, thank youso much for having me. Absolutely.
Wow, You've got quite the acronymhere, so tell us what it
stands for. Absolutely. LGMD standsfor limb girdle muscular dystrophe, which is
(00:47):
a rare genetic muscular disorder that causesweakness in muscles around hips and shoulders.
And with it being a rare disease, I am doing everything I can as
part of the LGMD two D Foundationto raise awareness, advocate and help fundraise
for treatments for this disease. Andwhere can we get more information and how
(01:07):
do we follow you on social media? Yep, we are on all social
platforms including Facebook, Instagram, andLinkedIn, and you can find more information
on LGMD two D dot org.And exactly what is it that you need?
What is best for you? Isit, you know, a monetary
donation, Do you need volunteers?Are there items or things that we can
(01:30):
help you with? Absolutely? Yeah, I mean honestly, right now we
are really focusing on, as Imentioned, the awareness, advocacy and research
for this rare disease. There arewonderful patients in this community that have absolutely
no treatments available to them, includingmy seven year old son. He was
(01:53):
diagnosed a couple of years ago.Our family was completely blindsided by this diagnosis
and ever since then, I havejoined on to this fight to get these
patients the treatments that they need.So, as with any type of disease,
we need to have research done.These diseases are genetic and gene therapy,
(02:16):
which is you know, an innovation, innovative therapy that's in the rise
is often you know, one ofthe best treatments for these these patients,
but they have nothing available for themright now. So whatever we could do
to raise awareness, advocate, andand research will help tremendously. So,
(02:37):
you know, monetary donations are soso helpful as well as just understanding what
types of disease that this is andthat there are patients within the community living
with it, and you know,being kind to those that are disabled.
You know, Rachel, if youwouldn't mind, And again, I do
(02:57):
want to remind people that now throughend of play, you can help this
organization so much more because at nocost to them. Because the Travelers Championship,
their crew, the back end,Webster Bank, they are doing everything
there. They're they're taking all thefees. This is at no cost to
the charity. Where you make thisdonation, you get fifteen percent of every
dollar that's going to help you outtremendously. So again, go to Travelers
(03:20):
Championship dot com and you can lookfor LGND two D Foundation. But let's
get back to you, Rachel.Let's get back to your son. What
is it that you noticed, youknow, for a parent maybe listening right
now thinking oh jeez, I've neverheard of this before, right, because
it's not something we talk about alot, right, What are some of
the things that you noticed or thateven gave an indication that your son might
(03:43):
have something that need to be lookedinto a little further. Yeah. So,
so for our specific story, itwas a summer a couple of years
ago, and he had a caseof rahapdomialysis, which I had no idea
what that was, right, butultimately it's muscle breakdown that caused his urine
to be like a dark reddish color, which alerted us, of course,
(04:06):
and prompted us to go to ConnecticutChildren's Medical Center, where my son then
spent three days in the hospital onstrictly ivy hydration, and that was what
first prompted us to look into thisa little bit deeper than the doctor's The
physicians as he was there for thosecouple of days, didn't know what was
(04:27):
going on with him. And otherthan other than that case, he was
absolutely fine. There was nothing thatreally triggered my husband and I on any
you know, anything to be cautiousof. So with a couple of days
in the hospital, it happened againand he had to Then there was a
(04:48):
recommendation of a geneticist or muscular diseasesbecause typically these things, especially in younger
children, don't happen unless there's anunderlying clause. But there are signs that
are really relevant, and especially children. This is a muscular disease that symptoms
appear usually around the age of tenor below before the age of ten,
(05:13):
but some also do appear in adulthood. So I think everybody who has caution
of you know, either their childrenhaving difficulty climbing stairs or being slower than
their peers. I mean, there'sthat gut intuition of a mom of a
parent where you know something's not right. I feel like you should definitely follow
(05:33):
that's done when you really see itconsistently. And I know so many mothers
in the community that are going throughthe same thing that we are just trying
to fight for this awareness and atreatment because our children and the patients within
this community desperately, desperately need it. It's a critical disease. It is
(05:56):
very severe and usually later in lifethe patients, the patients will have respiratory
or cardiac ash issues, so itcan also be fatal and shortened lifespan.
So that's why we've just been onthis massive mission to raise awareness do everything
we can as the LGMD two DFoundation and in the broader LGMD community to
(06:23):
you know, have our voices beheard in the urgency and severity of the
treatments that these patients need. I'mso glad that we had a chance to
chat at the kickoff meeting. I'mso glad that you're a part of Bertie's
for Charity to earn this extra moneyto get these interviews. I'm not sure
if you're going to be out thereon site. If you are, I'd
love to have another interview with you, and also continue having you on this
(06:45):
program to continue shedding a light onthis and also, you know, with
these funds earned, I mean,this is so critically important. Can you
just talk about your relationship with Bertie'sfor Charity. I don't think if I'm
not mistaken, this is your firsttime a part of it. If not,
I apologize, But yeah, tellme what it's been like to be
a part of this journey and toget all the support you're getting from the
(07:08):
Travelers Championship, Webster Bank and iHeartCommunities. Oh absolutely, I mean this
is such an amazing platform, Renee. We are so excited to be part
of the Berdie's for charity. Ourfamily is a golf family. Even my
young friend Jacob is playing in afirst tea and loves golf himself. So
(07:29):
we love the Travelers Championship. We'vebeen going for years watching the players,
and it's just a great community resourcefor Connecticut. I think that our state
is very proud to have this championshipwithin Connecticut, and we are so proud
as the LGMD two D Foundation tobe part of it and to have platforms
(07:50):
like iHeart and this championship supporting ourfoundation and our cause. It's unbelieve and
truthfully, I was not aware ofthis condition before meeting you, so I
can only imagine. Obviously it's notin my family, so it's very different
when it affects you. So I'mso sorry, but I'm so glad that
(08:13):
now I am aware, and Ihope many other people will now be aware
because this is a lifelong journey withyour son. And so if you're a
parent or a guardian with a childwith this condition, this will, this
will never end, right. Thisis something that you need to make plans
for when your child grows older.This will this is something that you're going
(08:33):
to have to you know, yourhouse, your your equipment, your needs,
living conditions, and plans for thefuture. This is something, like
you said, this is critical onso many different levels, right, I
mean, and I know this isvery personal and you don't have to share,
only share what you feel comfortable with. But what does the next few
years look like in your life,within your family, within preparing for this
(08:54):
and how important again will these fundsbe to families like yours? Yeah,
it's so important, Renee. Honestly, I mean you you are spot on
with everything you just said. II never saw this coming for my son,
you know, as a mom,as a parent, my husband and
I being during pregnancy, had agreat pregnancy, never any issues, never
(09:16):
any complications. Have the test doneto you know, serve to do any
type of you know, prenatal screenings, and muscular dystrophe isn't really one of
them. So we had no ideathat this was a genetic disease that we
were both carrying. And and nowwhat we're doing the second that we found
out is is fighting for this community, fighting for our son to get these
(09:39):
treatments because that will help slow downprogression. What muscular diystrophe is is breakdown
of muscle, right, so theprogression is what causes people to lose ambulation
and not walk, what causes peoplemuscle with cardiac and respiratory issues, it's
(10:00):
the breakdown of muscles. So thesetreatments are so so critical, and this
community, the limgirdle muscular district feedcommunity, does not have any treatments available
right now for them at all,and so it's really kind of just that
awareness again and trying to have myseven year old son who doesn't really realize
(10:22):
that he is with this type ofcondition right now. Fortunately he's doing pretty
well from a strength perspective, butyou know, he's not allowed to or
it's recommended not to play contact sports. So while he sees friends in his
community at school playing soccer right nowor playing baseball, he's not able to
(10:45):
do. So he could play golfbecause it's a non contact sport, and
we want him involved in some typeof a team a team camaraderie. But
it's having those conversations with him andin the background, trying to, you
know, get him involved in naturalhistory studies so that way doctors and companies
(11:07):
can understand researchers can understand the progressionof this disease and how he's doing now
versus how he was doing three yearsago when we started a natural history study
and then also develop that treatment.That's what this money, these donations will
go through well well acknowledged national researchersthat are interested in in, you know,
(11:33):
treatment and developing treatments for these rarediseases. And they are amazing.
They are absolutely amazing, and we'revery fortunate for them. All Right,
Well, it's truly been an eyeopening conversation and I'm so thrilled to your
part of Bertie for Charity with theTravelers Championship. Now through end of play
June twenty fourth, you can makeyour donations to the lg n D two
(11:54):
D Foundation, Travelers Championship dot com. Scroll through all the charities, pick
one or two or three or whateveryou feel comfortable with. And again,
Rachel Decanti is the executive director.I appreciate you to hear this interview.
Again, Please visit my community accessdot com or we'll have a direct link
up to the LGMD two T Foundationand Travelers Championship. Berdie's for Charity.
Thanks Rachel, Thank you, Rene. Have a great day.
Her communities. Thank you so muchfor listening. We are proud to be
a part of Bertie's for Charity.Now through end of play June twenty fourth,
you can donate to your favorite charityat Travelers Championship dot com. Click
on Bertie's for Charity you can scrollthrough all of the nonprofits that are taking
a part of it. That willearn fifteen percent of every dollar that has
donated thanks to the sponsor, WebsterBank. One of those incredible charities,
(00:23):
LGMD two D Foundation. Who arethey, what do they do? How
do they help? Well, wehave their executive director on the line with
us, Rachel Decanti, who's goingto tell us all about it. Hello,
Rachel, hi Jinan, thank youso much for having me. Absolutely.
Wow, You've got quite the acronymhere, so tell us what it
stands for. Absolutely. LGMD standsfor limb girdle muscular dystrophe, which is
(00:47):
a rare genetic muscular disorder that causesweakness in muscles around hips and shoulders.
And with it being a rare disease, I am doing everything I can as
part of the LGMD two D Foundationto raise awareness, advocate and help fundraise
for treatments for this disease. Andwhere can we get more information and how
(01:07):
do we follow you on social media? Yep, we are on all social
platforms including Facebook, Instagram, andLinkedIn, and you can find more information
on LGMD two D dot org.And exactly what is it that you need?
What is best for you? Isit, you know, a monetary
donation, Do you need volunteers?Are there items or things that we can
(01:30):
help you with? Absolutely? Yeah, I mean honestly, right now we
are really focusing on, as Imentioned, the awareness, advocacy and research
for this rare disease. There arewonderful patients in this community that have absolutely
no treatments available to them, includingmy seven year old son. He was
(01:53):
diagnosed a couple of years ago.Our family was completely blindsided by this diagnosis
and ever since then, I havejoined on to this fight to get these
patients the treatments that they need.So, as with any type of disease,
we need to have research done.These diseases are genetic and gene therapy,
(02:16):
which is you know, an innovation, innovative therapy that's in the rise
is often you know, one ofthe best treatments for these these patients,
but they have nothing available for themright now. So whatever we could do
to raise awareness, advocate, andand research will help tremendously. So,
(02:37):
you know, monetary donations are soso helpful as well as just understanding what
types of disease that this is andthat there are patients within the community living
with it, and you know,being kind to those that are disabled.
You know, Rachel, if youwouldn't mind, And again, I do
(02:57):
want to remind people that now throughend of play, you can help this
organization so much more because at nocost to them. Because the Travelers Championship,
their crew, the back end,Webster Bank, they are doing everything
there. They're they're taking all thefees. This is at no cost to
the charity. Where you make thisdonation, you get fifteen percent of every
dollar that's going to help you outtremendously. So again, go to Travelers
(03:20):
Championship dot com and you can lookfor LGND two D Foundation. But let's
get back to you, Rachel.Let's get back to your son. What
is it that you noticed, youknow, for a parent maybe listening right
now thinking oh jeez, I've neverheard of this before, right, because
it's not something we talk about alot, right, What are some of
the things that you noticed or thateven gave an indication that your son might
(03:43):
have something that need to be lookedinto a little further. Yeah. So,
so for our specific story, itwas a summer a couple of years
ago, and he had a caseof rahapdomialysis, which I had no idea
what that was, right, butultimately it's muscle breakdown that caused his urine
to be like a dark reddish color, which alerted us, of course,
(04:06):
and prompted us to go to ConnecticutChildren's Medical Center, where my son then
spent three days in the hospital onstrictly ivy hydration, and that was what
first prompted us to look into thisa little bit deeper than the doctor's The
physicians as he was there for thosecouple of days, didn't know what was
(04:27):
going on with him. And otherthan other than that case, he was
absolutely fine. There was nothing thatreally triggered my husband and I on any
you know, anything to be cautiousof. So with a couple of days
in the hospital, it happened againand he had to Then there was a
(04:48):
recommendation of a geneticist or muscular diseasesbecause typically these things, especially in younger
children, don't happen unless there's anunderlying clause. But there are signs that
are really relevant, and especially children. This is a muscular disease that symptoms
appear usually around the age of tenor below before the age of ten,
(05:13):
but some also do appear in adulthood. So I think everybody who has caution
of you know, either their childrenhaving difficulty climbing stairs or being slower than
their peers. I mean, there'sthat gut intuition of a mom of a
parent where you know something's not right. I feel like you should definitely follow
(05:33):
that's done when you really see itconsistently. And I know so many mothers
in the community that are going throughthe same thing that we are just trying
to fight for this awareness and atreatment because our children and the patients within
this community desperately, desperately need it. It's a critical disease. It is
(05:56):
very severe and usually later in lifethe patients, the patients will have respiratory
or cardiac ash issues, so itcan also be fatal and shortened lifespan.
So that's why we've just been onthis massive mission to raise awareness do everything
we can as the LGMD two DFoundation and in the broader LGMD community to
(06:23):
you know, have our voices beheard in the urgency and severity of the
treatments that these patients need. I'mso glad that we had a chance to
chat at the kickoff meeting. I'mso glad that you're a part of Bertie's
for Charity to earn this extra moneyto get these interviews. I'm not sure
if you're going to be out thereon site. If you are, I'd
love to have another interview with you, and also continue having you on this
(06:45):
program to continue shedding a light onthis and also, you know, with
these funds earned, I mean,this is so critically important. Can you
just talk about your relationship with Bertie'sfor Charity. I don't think if I'm
not mistaken, this is your firsttime a part of it. If not,
I apologize, But yeah, tellme what it's been like to be
a part of this journey and toget all the support you're getting from the
(07:08):
Travelers Championship, Webster Bank and iHeartCommunities. Oh absolutely, I mean this
is such an amazing platform, Renee. We are so excited to be part
of the Berdie's for charity. Ourfamily is a golf family. Even my
young friend Jacob is playing in afirst tea and loves golf himself. So
(07:29):
we love the Travelers Championship. We'vebeen going for years watching the players,
and it's just a great community resourcefor Connecticut. I think that our state
is very proud to have this championshipwithin Connecticut, and we are so proud
as the LGMD two D Foundation tobe part of it and to have platforms
(07:50):
like iHeart and this championship supporting ourfoundation and our cause. It's unbelieve and
truthfully, I was not aware ofthis condition before meeting you, so I
can only imagine. Obviously it's notin my family, so it's very different
when it affects you. So I'mso sorry, but I'm so glad that
(08:13):
now I am aware, and Ihope many other people will now be aware
because this is a lifelong journey withyour son. And so if you're a
parent or a guardian with a childwith this condition, this will, this
will never end, right. Thisis something that you need to make plans
for when your child grows older.This will this is something that you're going
(08:33):
to have to you know, yourhouse, your your equipment, your needs,
living conditions, and plans for thefuture. This is something, like
you said, this is critical onso many different levels, right, I
mean, and I know this isvery personal and you don't have to share,
only share what you feel comfortable with. But what does the next few
years look like in your life,within your family, within preparing for this
(08:54):
and how important again will these fundsbe to families like yours? Yeah,
it's so important, Renee. Honestly, I mean you you are spot on
with everything you just said. II never saw this coming for my son,
you know, as a mom,as a parent, my husband and
I being during pregnancy, had agreat pregnancy, never any issues, never
(09:16):
any complications. Have the test doneto you know, serve to do any
type of you know, prenatal screenings, and muscular dystrophe isn't really one of
them. So we had no ideathat this was a genetic disease that we
were both carrying. And and nowwhat we're doing the second that we found
out is is fighting for this community, fighting for our son to get these
(09:39):
treatments because that will help slow downprogression. What muscular diystrophe is is breakdown
of muscle, right, so theprogression is what causes people to lose ambulation
and not walk, what causes peoplemuscle with cardiac and respiratory issues, it's
(10:00):
the breakdown of muscles. So thesetreatments are so so critical, and this
community, the limgirdle muscular district feedcommunity, does not have any treatments available
right now for them at all,and so it's really kind of just that
awareness again and trying to have myseven year old son who doesn't really realize
(10:22):
that he is with this type ofcondition right now. Fortunately he's doing pretty
well from a strength perspective, butyou know, he's not allowed to or
it's recommended not to play contact sports. So while he sees friends in his
community at school playing soccer right nowor playing baseball, he's not able to
(10:45):
do. So he could play golfbecause it's a non contact sport, and
we want him involved in some typeof a team a team camaraderie. But
it's having those conversations with him andin the background, trying to, you
know, get him involved in naturalhistory studies so that way doctors and companies
(11:07):
can understand researchers can understand the progressionof this disease and how he's doing now
versus how he was doing three yearsago when we started a natural history study
and then also develop that treatment.That's what this money, these donations will
go through well well acknowledged national researchersthat are interested in in, you know,
(11:33):
treatment and developing treatments for these rarediseases. And they are amazing.
They are absolutely amazing, and we'revery fortunate for them. All Right,
Well, it's truly been an eyeopening conversation and I'm so thrilled to your
part of Bertie for Charity with theTravelers Championship. Now through end of play
June twenty fourth, you can makeyour donations to the lg n D two
(11:54):
D Foundation, Travelers Championship dot com. Scroll through all the charities, pick
one or two or three or whateveryou feel comfortable with. And again,
Rachel Decanti is the executive director.I appreciate you to hear this interview.
Again, Please visit my community accessdot com or we'll have a direct link
up to the LGMD two T Foundationand Travelers Championship. Berdie's for Charity.
Thanks Rachel, Thank you, Rene. Have a great day.
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