My Life with Limb-Girdle Muscular Dystrophy (LGMD2E Beta-Sarcoglycanopathy) AND Gene therapy!

My Life with Limb-Girdle Muscular Dystrophy (LGMD2E Beta-Sarcoglycanopathy) AND Gene therapy!

July 28  2020

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TRANSCRIPT :

hello and welcome back to my world
00:04
if this is your first time then welcome
00:07
and i hope you enjoy this video
00:11
i'm sure you already know what this
00:13
video is about from the title
00:17
and i hope this video helps you in any
00:20
way
00:20
possible you learn something if not i
00:24
hope
00:24
that it fills your curiosity
00:28
so today i am going to be talking about
00:33
my condition and what i have
00:37
so i have a type of muscular dystrophy
00:41
muscular dystrophy is a big
00:44
term which covers so many different
00:47
types
00:48
and it's like a huge umbrella basically
00:52
my type is called lg
00:55
md type 2e
00:59
which stands for limb
01:02
girdle muscular dystrophy and the gene
01:06
which is mutated
01:10
i think mutations or basically another
01:13
term
01:15
for it is called scar
01:20
lymphaties gargoyle and puffy's
01:24
it is a muscle deteriorating condition
01:27
it progressively weakens the muscles
01:31
and it's based around the skeletal
01:34
um muscle and also
01:37
within the hips and the shoulders uh
01:40
it depends on each individual but
01:44
mainly they get weaker and um
01:47
less mobile as the years go on so as
01:51
if you had watched my previous video
01:56
one of the main reasons why i am
01:59
on youtube and making this video
02:02
is because there i believe
02:05
that there is people with my type
02:09
and of muscular dystrophy but it i
02:12
believe that there's not many people and
02:14
there's not many
02:15
um there's not much of uh
02:18
like us people we don't have much
02:21
contact with each other so there's not
02:24
much
02:25
of a basically because there's so much
02:28
different
02:29
types of md we don't have
02:32
a society basically of
02:36
us like um i know dashan's muscular dish
02:40
if he has
02:41
its own society it has more
02:44
it's well known basically and lgm d2e
02:49
and the others the other categories of
02:53
lgmd don't have a society
02:56
and so my ultimate goal is
03:00
to help people with lgmd type 2e
03:04
just form a group and for them to know
03:08
that there is other people out there
03:12
and but the only issue is that there are
03:15
people out there but they're not
03:18
making videos filming their life
03:21
or are on youtube i um
03:25
basically typed on youtube lgmd type 2e
03:30
girl nothing came up i
03:33
personally i wanted to see any other
03:36
girls who have my condition
03:39
for it to be specific and to see
03:42
how other people they're doing in life
03:44
and there was nothing
03:46
mostly boys have it and mostly people
03:49
don't really
03:51
they're not really personal and there's
03:53
not much
03:54
about it from what i saw so i just want
03:57
to
03:58
bring in something new into the lgm d2e
04:03
society and start a new beginning for us
04:07
there's so many different topics on
04:09
youtube
04:11
there's so many different categories
04:15
but there's not much for the muscular
04:17
dystrophy
04:18
um people and for people who are seeking
04:22
help as well
04:23
um if your parents um hello i'm jimmy
04:28
and if you're teenagers or young
04:30
children
04:32
i don't know i don't know if children
04:33
will be watching my video but
04:35
if you are high now i'm going to be
04:38
talking a bit more
04:41
about my life and the the stages i went
04:45
through and just to tell you a bit more
04:49
about myself i'm not going to go too
04:52
much in detail because
04:53
that could take an hour so i'm just
04:55
gonna go through
04:57
the highlights but maybe another time i
05:00
could go in more deeper if anyone wants
05:04
that and today's video will only be
05:06
about
05:07
my condition and muscular dystrophy
05:11
i won't be making any other video
05:13
talking about this
05:14
it's just that i don't want to make my
05:17
channel
05:18
all about md it's going to be more about
05:21
my life
05:22
i'm not really going to be diving deep
05:24
into my condition and
05:26
every video is really not going to be
05:29
about my philosophy or
05:31
i i think you probably understand what i
05:34
mean
05:35
and i'm sure you don't want to hear me
05:37
like just
05:38
blubbering away and i'm so exploring so
05:42
it's going to be vlogs videos i'm sure
05:44
you want to see everything else
05:46
uh so now moving on we are going to talk
05:50
about my life
05:51
so i don't think i've told you guys how
05:53
old i am
05:54
i'm 18 years old and i was born in 2001
05:59
on the 22nd of august which is my
06:02
birthday
06:04
um yeah so i was born as a normal baby
06:08
and i was like healthy baby and no one
06:10
really knew
06:12
how extraordinary this baby would be
06:15
how adventurous how adventurous it would
06:18
be to have this baby so i think that's a
06:20
better word
06:22
i think both adventurous and
06:23
extraordinary anyways uh
06:25
so yeah um i was born then and
06:29
up to i think two years old when i was
06:32
around
06:33
two my parents like noticed that i
06:36
wasn't really
06:37
sitting or doing the normal calling
06:40
things and
06:41
i started crawling late like at three
06:44
and walking late as well so they were a
06:48
bit
06:48
concerned so we went to the doctors and
06:51
the doctors told me they did blood tests
06:54
and then they said they needed a muscle
06:56
biopsy
06:57
which i'm sure any of you guys who have
07:00
muscular dystrophy or any new parents
07:03
i'm sure you would have heard about um
07:06
what a muscle biopsy is which they take
07:09
a chunk of well no i wouldn't say a
07:13
chunk
07:14
maybe it's a prick a prick of muscle
07:18
to check what the problem is and so they
07:20
checked
07:21
and they did so many different tests and
07:23
they found out
07:24
that i had muscular dystrophy and type 2
07:28
e er among the other ones is
07:32
more progressive as and it's rapid so
07:35
deteriorates faster and
07:38
when i was around
07:43
five i yeah four or five and i
07:46
remember i used to walk around but
07:50
people who have my condition
07:53
they can't really walk straight you're
07:57
you either walk on your tiptoes
08:00
or you walk on the edges of your feet
08:03
it really depends so i i used to walk
08:08
on the edges of my feet and so i had
08:11
like
08:12
two major surgeries where my first
08:14
surgery was around
08:16
six i was six years old it wasn't that
08:18
major just to
08:20
make my feet if i could walk straight
08:23
that helped but then
08:24
my feet got worse again so then around
08:27
eight years old or nine
08:29
i had another surgery it was a bigger
08:33
surgery to help my feet
08:35
so i could walk straight but obviously i
08:38
got weaker and my feet curved up again
08:42
and i couldn't i could no longer walk
08:45
basically so at the ages of
08:48
not nine i think i don't
08:51
really remember my childhood that much
08:56
in detail on when how how
09:00
progressive things were back then
09:04
um yeah so i don't know but yeah around
09:06
nine years old i
09:08
stopped walking completely but i was
09:11
still
09:12
mobile and i rem i definitely remember
09:15
the time of
09:17
transitioning into from a
09:20
manual chair to a power chair which was
09:23
a very exciting time for me
09:25
and i don't think i would forget that
09:28
from then at 10 years old i started to
09:33
develop scoliosis
09:37
which is another big topic that
09:40
i will talk about i developed a
09:43
curvature in my spine
09:46
and um yeah so i don't know if anyone
09:50
else
09:51
with muscular dystrophy has developed
09:53
scoliosis
09:55
but scoliosis normally develops when
09:59
people are sitting for too long or it's
10:02
just random
10:03
for me i think it was because i was
10:05
saying for too long or
10:07
i don't really know exactly how i
10:09
developed but i did develop
10:10
and it was for a good cause as always
10:14
i wore this horrible brace i don't think
10:17
i'm ever gonna say anything nice about
10:19
it because
10:21
if any one of you has ever worn a race
10:23
you know how bad it is
10:24
and yeah it did help but i never really
10:28
improved the curvature so yeah i wore a
10:32
brace for two years
10:35
and then around 12 i got more weaker
10:39
i was actually full-time wheelchair
10:42
and um still could use my hands i think
10:46
but i had to like bend down to eat
10:49
because i couldn't really lift them
10:52
my fingers were good at that time
10:55
as well i think but then i started to
10:57
use my right hand more than the others
11:01
so that may impact on my movement as
11:04
well
11:05
and then um yes they're 12 years old
11:11
and then i had scoliosis surgery spinal
11:16
fusion
11:17
also around 12 or 13 ish
11:22
it was my third surgery by then third or
11:27
fourth
11:29
i had so many so i don't really
11:32
recall if it was my third
11:35
no no it was my fifth
11:38
the fifth surgery i think fifth or sixth
11:42
so
11:44
okay um yeah so
11:47
uh before surgery i could move my head
11:50
around
11:52
i had i could hold up my body on my own
11:55
like i could have my own balance and i
11:58
could use my hands to eat myself at
12:01
times
12:02
but i would still get tired and i did
12:05
have movement i had some watch movement
12:09
after surgery i had
12:12
lost my own holding of
12:16
balance of my body i had
12:19
lost head movement as well i could no
12:21
longer
12:22
hold my head up and also
12:25
i had lost the
12:29
movement of my arms i could no longer
12:31
feed myself
12:32
because of the scoliosis i was now
12:35
straight
12:36
no longer curved which meant i did not
12:39
bend over to
12:40
feed myself and i'm not sure if this is
12:44
the same for everyone
12:47
i had my own experiences maybe some
12:49
other people still had some movement
12:52
in their arms or head but for me
12:55
i lost that movement and i wasn't warned
12:58
about that before
13:00
i guess no one knew i also had other
13:03
issues with my nerves or veins
13:06
but i'll put that in my other video when
13:08
i do a scoliosis video
13:12
and then gradually when i turned
13:16
16 i
13:20
still got weaker but then i kind of had
13:22
difficulties
13:24
with using my wheelchair i guess that
13:27
had always been an issue
13:30
about me driving around with my power
13:32
chair
13:34
i had the side controls but then it got
13:36
difficult
13:38
so then i was mounted a
13:42
center controller on a tray i'm sure
13:45
that i was around 16
13:47
or maybe younger it was in between
13:50
13 and 16 that i had the tray
13:56
and the canoe controllers which made it
13:59
easier
14:00
i also couldn't move my hand around put
14:02
my hand on the controller myself
14:05
and just general i was able to do those
14:09
things and
14:10
it felt good and then like
14:13
now talking about the last few years of
14:18
my life
14:19
i have i don't want to really
14:23
say that i have gotten regrow but
14:27
i think i have because it's obvious i
14:30
mean before it was never really obvious
14:32
to me when i was younger
14:34
i had been progressively getting weaker
14:38
and i never wanted to admit that and
14:42
up until when i was
14:45
up until i think last year when i
14:47
started to
14:49
admit that my arms were getting weaker
14:53
like my hands
14:55
because my fingers had started to
15:00
contract
15:04
and got weaker so i
15:07
rely on my hands to use my power chair
15:11
and drive around and i also use the
15:13
phone
15:14
laptop so i'm pretty much independent
15:17
by using my fingers
15:21
so and then i started to
15:25
agree with myself about being
15:28
weaker and so yeah i got weaker and
15:31
pretty much
15:32
had issues started to get respiratory
15:36
problems i think
15:38
around um well i did have so many chest
15:43
infections
15:44
when i was younger like from 12 onwards
15:48
but we never knew why if they were test
15:51
infections or not they got worse and
15:54
up until 15 i guess
15:57
when my my respiratory doctors told me
16:01
that they were chest infections and i
16:05
started having therapy for it i also got
16:09
a bypass machine which is a ventilator
16:12
which helps me at night
16:14
it's just so i get a better quality of
16:17
sleep
16:18
i'm not really gonna go into too much
16:20
detail on why i use
16:21
the bypass machine it's just so
16:24
i sleep better and i had
16:28
problems with my
16:32
breathing which is to do with anxiety
16:35
i started chest therapy percussion
16:39
and nebulizers and then i stopped in the
16:43
chest infections i haven't had chest
16:46
infections in a few years now
16:49
but then i was no longer able to cough
16:54
with full strength as i'm sure
16:58
a few of you who have muscular dystrophy
17:01
you would know that when you cough
17:06
you can't really cough like some people
17:09
are weak and you can't really cough
17:12
or have full strength to sneeze
17:16
so now very recently a year ago i got
17:20
introduced to
17:22
a clearway device which is a cough
17:26
coughing machine it helps you to cough
17:30
so i received a coughing machine which
17:32
helps me to clear away the mucus
17:34
which is okay hey guys um i think that
17:39
clip just ended because
17:42
the charge right now yeah if
17:45
okay so hopefully it won't run out again
17:47
um yeah
17:48
basically i was talking about my
17:51
craft device and how i started to use
17:54
that
17:55
as i can't really cough properly
17:58
and it helps with the music and
18:00
everything
18:02
and yeah also
18:05
i was talking about the weakness in my
18:07
arms and fingers
18:09
now i think i can't really use the
18:14
controller on my tray anymore as well a
18:16
few years ago
18:17
i i received a
18:20
electric arm which makes my arm go up
18:24
and down
18:25
as you can see it's going up and down
18:28
um yeah so i received this which
18:32
um which basically changed my life for
18:34
the better
18:36
i was able to use my chair better use my
18:39
laptop better and start
18:41
my art again which i paint as well
18:44
so basically gave me more movement and i
18:47
can
18:48
like it helps me to eat as well so yeah
18:50
then my hands got weaker
18:53
i started to use my
18:58
controller
19:01
with the electric arm i remember i
19:04
like in last year in september i used
19:08
the normal i didn't use my electric arm
19:10
in cottage
19:12
but then i started to feel like it was
19:14
really difficult
19:16
for me to get in and out of classes or i
19:18
would get stuck
19:20
or i would need help and my wrist would
19:22
keep turning and it was so
19:24
difficult and it was causing me so much
19:27
mental strain to keep my wrists up and
19:30
to move around
19:32
up until i
19:35
finally meow mom made a decision
19:39
but i should use the electronic arm and
19:41
got it which was also another
19:42
stressful factor but then i got used to
19:45
it
19:45
and after that i tried to use my
19:48
controller chair
19:49
but then i couldn't because i had
19:51
already i lost
19:52
the ability to use my chair without the
19:55
electric
19:56
arm of my wrist which is now
19:59
contracting i guess we would we would
20:02
try and use
20:03
the electric arm only for college and
20:06
not for when i'm at home
20:09
but then i don't know what happened and
20:11
i didn't do that
20:12
so it just got worse but i think it
20:14
would have been worse anyways
20:17
it either was going to be stressful or
20:20
it was going to be some sort of
20:22
something you know
20:24
so yeah yeah so i use my arm from
20:27
pretty much everything laptop phone
20:31
oh yeah i think it was why i was using
20:34
my
20:35
electric arm more was because i was
20:38
using my laptop
20:39
and i needed it for the laptop so i
20:41
think that's why
20:43
i was anyways i'm sure you don't want to
20:46
know
20:47
all these details about the um but i
20:51
will put down details
20:53
in the description box about the
20:56
electric arm where i got it from
21:00
and the um
21:03
i will also for those of you who are
21:06
interested
21:08
put in the description box below about
21:10
the vascular dystrophy
21:12
fact sheets and more information
21:16
to help you guys i am now at an age of
21:19
18 years old
21:21
as i mentioned before and i've pretty
21:24
much highlighted my life i guess
21:27
and i hope that i have not missed out
21:30
anything
21:31
i haven't really spoken about my college
21:33
life
21:35
my school life which is a huge
21:38
part of my life as well how i was at
21:40
school and
21:42
what school i went to and
21:45
my feelings and emotions in school
21:48
and also i haven't really spoken about
21:51
the mental
21:52
side of things i've never really been
21:55
affected
21:56
mentally with my condition i've always
21:59
been pretty much
22:00
positive even in childhood and
22:03
teenagers i i think i only started to
22:07
be mentally affected at 16 years old
22:10
around 15 or
22:12
16 the only reason was
22:15
because of confidence and passiveness
22:19
and the way i looked i wasn't really
22:22
i was just not confident with myself but
22:26
i
22:26
i think school life
22:29
and college life and mental health
22:33
with muscular dystrophy i will put in
22:35
another video
22:37
just because this video is purely about
22:39
limb girdle
22:41
muscular dystrophy
22:44
and how i gradually got weaker
22:48
and if you are a parent and you are
22:52
watching this video and
22:54
you have a new child who is recently
22:57
diagnosed
22:58
with the condition i just do not
23:02
want you to worry or panic because it is
23:06
a new beginning it
23:08
is definitely a adventure you would want
23:11
to be
23:12
on so please i know it is upsetting
23:15
i know you want to you would want your
23:18
child
23:18
to be able to do the things
23:22
normal children do but i am i could
23:25
assure you that
23:26
there is so many things that your
23:29
children will be able to do
23:31
it's just a matter of being patient and
23:34
just having so many options and
23:37
we're in 2020 i mean besides
23:40
kovid and the pandemic there's so much
23:44
new in life and um oh yeah
23:47
talking about new in life there is gene
23:51
therapy i mean there is no cure guys
23:54
okay
23:54
like just being straightforward
23:57
you have to understand the fact that
24:00
there is
24:01
no cure so please please do not
24:05
take your child around the world trying
24:08
to
24:09
fix their condition
24:12
because i tell you that i've been around
24:14
the world and
24:15
it didn't happen i've been through so
24:17
much my parents tried
24:19
their best for my condition
24:23
to be cured but it couldn't there is no
24:25
way
24:26
so please do not do that because it's
24:28
just going to cause your child's
24:31
stress and for you stress i mean
24:34
just please don't even if this video
24:36
gets to you i hope it does
24:38
don't do that okay you can hate me on
24:40
that
24:41
don't try it i've been to it if you have
24:43
any questions
24:45
on that i will make another video
24:48
about my trips around
24:53
um what my parents did yeah okay
24:57
and yeah so there is therapy gene
24:59
therapy which is not a cure
25:01
but it helps the um muscle
25:05
progressive muscle wastage yeah it it
25:08
helps the mutated gene
25:11
which will stop the progressive muscle
25:14
wasting
25:15
and so if the child is young and they
25:18
have the gene therapy
25:21
which that there are human human trials
25:24
happening
25:25
for my exact type of condition
25:28
then that would mean that your child
25:30
would no longer have progressive muscle
25:32
wastage
25:33
and they would hopefully no longer have
25:36
md
25:37
it's not it's not exactly a cure but it
25:39
just
25:40
really really slows down their muscle
25:43
wastage
25:45
and it just helps with everything and
25:49
i will also put a link down below of the
25:52
company which is called sarpetta
25:54
therapeutics
25:56
who have invented this gene and
25:59
they are working on human trials at the
26:02
moment
26:03
so that is very exciting and good news
26:07
for us
26:08
and if you're a researcher then i'm sure
26:10
you're happy about that too
26:12
if you're not you still have to because
26:15
obviously you wouldn't be happy about
26:17
this it's
26:18
amazing news gene therapy could possibly
26:21
slow down
26:22
so much of the rapid muscle wastage
26:27
and it could like just make you
26:30
stay the same like if i have the gene
26:33
that i've been out i would still have
26:34
movement in my arms and that's all i
26:36
need
26:37
i just i don't think i will get any more
26:40
weaker
26:41
but you never know gene therapy
26:43
hopefully
26:44
one day i will have it and i will film
26:46
myself having it
26:47
to show every one of you so talking to
26:50
the teenagers out there
26:52
for young people um honesty
26:56
i hope this video helps i hope you've
26:59
met someone who has your condition
27:02
isn't it so cool um and we can relate to
27:07
each other
27:08
and it's just one of the best things
27:11
that
27:12
you meet someone else who has the exact
27:15
same type
27:16
of mutated gene as you and are going
27:19
through something similar
27:21
i mean normal humans are very much
27:23
different to each other
27:25
they don't have a lot of similarities um
27:28
which gives us a bonus point so yeah
27:33
hopefully you get something out of this
27:35
video or you enjoyed me talking
27:39
i'm sorry if i talk too much or if i've
27:41
spoken too
27:42
fast i hope you've understood the video
27:46
i know this video was a bit awkward at
27:48
the beginning i just
27:50
i had it in my head but i couldn't
27:52
really say
27:53
say it but now i have said it and maybe
27:56
another day i'll make a more detailed
27:58
video
27:58
about my life and growing older but it's
28:02
just a very
28:04
brief brief basics of
28:07
how things got progressively
28:10
worse as i grew older and thank you very
28:13
much for watching
28:15
i will upload another video
28:19
on wednesday please comment down below
28:22
if this video helped you or if there is
28:25
anything else you would
28:27
we would have wanted me to talk about
28:31
in this video or if there's anything i
28:35
missed out
28:36
from which i apologize if i have any
28:39
questions or
28:41
anything please let me know and i am
28:43
very happy
28:44
to answer your questions and
28:48
yeah and subscribe if you want to watch
28:51
more videos
28:52
um if you're interested because then
28:54
you'll know whenever i post
28:56
um otherwise thank you so much
28:59
and have a good day and i'll see you
29:03
again
29:04
on wednesday bye for now
 

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