Hi Louise,

I'm in Cambridge, UK, though I'm American. My partner and I are living here for
a while. I'm trying to get an appointment with Dr. Kate Bushby's office in
Newcastle. She is one of the world experts, both research-wise and clinically,
on some types of LGMD. Since you're in Newcastle, I would suppose you've heard
of her. But in case not, FYI! I don't know that she'll have any "magic bullet"
at all, but it will good to see someone so familiar with my condition. (I'm
thought to have dysferlinopathy, and am currently waiting on results from a
genetic analysis.)

All the best!

Marian


-----Original Message-----
From: dysferlin@yahoogroups.com [mailto:dysferlin@yahoogroups.com]
Sent: Wed 4/22/2009 12:44 PM
To: dysferlin@yahoogroups.com
Subject: [dysferlin] Digest Number 225

Dysferlin Deficiency
<http://groups.yahoo.com/group/dysferlin;_ylc=X3oDMTJkNTh2anNtBF9TAzk3MzU5NzE1BG\
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Messages In This Digest (5 Messages)


1a.
Re: Non-dysferlin LGMD From: Louise Needham
1b.
Re: Non-dysferlin LGMD From: patty martinez
1c.
Re: Non-dysferlin LGMD From: Suzanne Croft

2a.
What to Say, Shopping etc. From: Christina Ray
2b.
Re: What to Say, Shopping etc. From: Miriam Mejia

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1a.

Re: Non-dysferlin LGMD
<http://groups.yahoo.com/group/dysferlin/message/475;_ylc=X3oDMTJwYjRocDVuBF9TAz\
k3MzU5NzE1BGdycElkAzMzNzY4ODEEZ3Jwc3BJZAMxNzA1MDYxNzc2BG1zZ0lkAzQ3NQRzZWMDZG1zZw\
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Posted by: "Louise Needham" louiseneedham@...
<mailto:louiseneedham@...?Subject= Re%3A%20Non-dysferlin%20LGMD>
louiseneedham21 <http://profiles.yahoo.com/louiseneedham21>


Tue Apr 21, 2009 7:26 am (PDT)




Hi Patty,

Before posting on this group I hadn't heard of any other family who have the
dysferlin-positive type LGMD. I was trying to find an explanation as to why my
mum is so badly affected, but my aunt is only mildly affected. I now know that I
was just jumping to the wrong conclusions, and that everyone is affected
differently. Also, this will sound horrible, but when we were little me and my
sister were complaining about mum not being able to walk fast enough, and my dad
told us it was because of us she was like that. I just wish there was more
information about this disease! But I think this message board is really good
and helps people who have the disease by connecting them with others in the same
position.


To: dysferlin@yahoogroups.com <mailto:dysferlin%40yahoogroups.com>
From: pattymartinez1980@... <mailto:pattymartinez1980%40yahoo.com>
Date: Mon, 20 Apr 2009 20:46:00 -0700
Subject: Re: [dysferlin] Re: Non-dysferlin LGMD

Hi Louise

I was reading your post about how children have affected people with lgmd. I
have 2 boys one age 11 and the other 4 I really didn't notice much after my
first I was still able to squat, tip toe, and run then it wasn't till about 5
years later that i noticed i was really clumsy, and that i could no longer tip
toe. After my second son thats when the symptoms were really noticable and
really affected my everyday life. The Doctor once told me that sometimes this
disorder can be triggered by trauma or stress your body goes thru, but it is not
a concrete fact. I hope this helps good luck and take care.
--- On Sun, 4/19/09, DeejLouise <deejlouise@...
<mailto:deejlouise%40yahoo.com> > wrote:

From: DeejLouise <deejlouise@... <mailto:deejlouise%40yahoo.com> >
Subject: [dysferlin] Re: Non-dysferlin LGMD
To: dysferlin@yahoogroups.com <mailto:dysferlin%40yahoogroups.com>
Date: Sunday, April 19, 2009, 9:09 PM

Louise,

I can understand your paranoia about being suspect of your pains. Take comfort
in how rare this is and that it is a recessive trait not likely to have been
passed to you or your sister. I am constantly wondering if my aches and pains
are related to this or if they are just natural aging pains. I did a lot of
housework yesterday and my feet and back are killing me.

The weakness in my arms seem to be mostly the upper arms. They get tired
quickly with any overhead tasks. I gave my husband a hair cut and with in ten
minutes my arms started aching. I really wouldn't have thought it was related
except that I had an EMG test done and they tested my calves, thighs, hands and
upper arms and the test showed abnormalities in all areas. I do a lot of typing
at work and sometimes my shoulders will start hurting.

Take care,

Donna

--- In dysferlin@yahoogrou ps.com, Louise Needham <louiseneedham@ ...> wrote:
>
>
> Hi Donna,
>
>
>
> I guess I assumed that having children made things worse because my mum
started showing symptoms at her first pregnancy, and they got worse after her
second (me). Also, my aunt had no children and is only mildly affected at age
56. However, this is probably a coincidence, and just shows that everyone is
affected differently. My mum's walking has been affected for a long time, but I
don't think her knees started bending like that until about 10 years ago or so
(when she was in her early 40s). But even that was at least 10 years after
symptoms of LGMD started. It probably depends how big the mutation in your gene
is, and how much wear and tear you put yourself through.
>
>
>
> Since mum was diagnosed, we've been told that it's unlikely to get passed on.
But because the mutation is not known they can't test my dad for carrier-status.
I feel stupid for thinking it, but me and my sister get paranoid every time our
legs hurt!
>
>
>
> Is it your upper or lower arm that is weak (sorry I can't remember the proper
names for the muscles!)? Also, do you get pains in your hands? My mum has quite
strong arms (which helps), but has been mentioning having pains in her hand
recently. This might be pressure from using her walking sticks though.
>
>
>
> Best wishes,
>
> Louise
>
>
>
> To: dysferlin@yahoogrou ps.com
> From: deejlouise@. ..
> Date: Sun, 19 Apr 2009 20:29:29 +0000
> Subject: [dysferlin] Re: Non-dysferlin LGMD
>
>
>
>
>
>
>
> Louise,
>
> I live in Iowa, USA.
>
> You are also the first family I've come across that has what I have. Doctors
just know that I don't have dysferlin deficiency and that I have many of the
same symptoms as those that do. Along with my tip-toe issue, I have a lot of
fatty infiltration in my back muscles as well as muscle weakness in my calves,
thighs and arms. I mentioned that my brother is showing symptoms, but he hasn't
gone through any of the tests that I have been through. I don't know of anyone
else on my mother's side of the family that had this, so it must have been a
long ways down the family tree. Because this is on the recessive gene, no one
really thought about it being passed down, since my mom was definitely not
related to my dad.
>
> I'm very interested in how pregnacey affected your mother. I would still like
to have children, but because of my age (39) and not knowing how pregnancy would
affect my body, I wonder what I could possibly expect to happen. I know that
LGMD affects people differently so I know that how pregnancy affected her, may
not affect me in the same way, but being prepared would make it easier to
accept. I shouldn't have waited so long to start a family. :) I'm not totally
convinced that pregnancy has anything to do with the progression of LGMD since
my grandfather suffered quite severely from this and obviously he didn't give
birth! You cannot assume that because your mother had you, that she was worse
off. Also, how old was you mother when her knees began bending crazy? How old is
your aunt that suffers with this?
>
> Regards,
>
> Donna
>
> --- In dysferlin@yahoogrou ps.com, Louise Needham <louiseneedham@ > wrote:
> >
> >
> > Hi Donna,
> >
> >
> >
> > Thanks for replying so quickly! You're the first family I've heard of who
are dysferlin-positive as well, and it sounds like you have similar symptoms. My
mum was the first one in the family who had this (as far back as we know), but
now that my aunt has it at least we can assume it's recessive and not a new
mutation. It seems like such a rare thing, the specialist kept asking if my
grandparents were related since they must have both been carriers! (They weren't
though).
> >
> > Since the muscles in my mum's thighs are so wasted, she can't support
herself with her knees bent the right way. So I think it just started happening
when she was walking, her knees started hyperextending backwards because she
couldn't support them. The specialist we saw a couple of years ago said if she
carried on walking like that, eventually her knees would dislocate. He gave her
braces to wear that stopped her knees bending, but after walking like that for
so many years she couldn't get used to them. My aunt seems to be affected much
less severely, her knees don't bend back, but her muscles are a bit weak and she
can't stand on tip-toes. I think it affects you worse if you've had children,
which makes me feel awful!
> >
> > My mum has used walking sticks as long as I can remember (I'm 21), and her
walking has gotten gradually worse over the years. She still manages to go short
distances, but I was worried she was exerting herself too much, and now she uses
a wheelchair for the more strenuous things like shopping. My mum still stays
active - swimming is a good thing for her to do because she can use her arms
mostly.
> >
> > Just out of interest, where abouts are you? I'm in Newcastle, England.
> >
> >
> >
> > Best wishes,
> >
> > Louise
> >
> >
> >
> >
> >
> > To: dysferlin@yahoogrou ps.com
> > From: deejlouise@
> > Date: Thu, 16 Apr 2009 00:13:08 +0000
> > Subject: [dysferlin] Re: Non-dysferlin LGMD
> >
> >
> >
> >
> >
> >
> >
> > Hi Louise,
> >
> > What your mum and aunt suffer from sounds exactly what my grandfather
suffered from. They didn't have a diagnosis for him back when he first started
showing signs. They just diagnosed him with muscular dystrophy. He started
showing symptoms when he was in his late 30's and was wheelchair bound by his
60's. When I was a little girl, he was already using a cain to walk. His knees
would bend back too. I wasn't close to my grandfather as my folks were divorced
and he lived in a different state. But I do remember those few things. I now am
suffering from some non-dysferlin LGMD. I'm 39 years old and started noticing
symptoms about 2 years ago. I've under gone several tests, but all tests show
that dysferlin is present and functioning. I have 4 brothers and one of them (a
year older than me) is also developing symptoms. I only seem to have issues with
toe walking as my calf muscles have wasted away to practically nothing. My
brother, however, mentioned burning sensations around his knees, which I'm
wondering if this is perhaps the beginnings of the crazy bending of the knee. He
has also mentioned issues with tip-toe. I would be interested in keeping up with
your mother's progress, as she seems to be on the same path of progression I'm
heading towards.
> >
> > I'll stop rambling now...
> >
> > Donna
> > --- In dysferlin@yahoogrou ps.com, "louiseneedham21" <louiseneedham@ >
wrote:
> > >
> > > Hi I'm Louise, this is my first post.
> > > I don't have LGMD, but my mum has suffered with it for about 25 years
now. Interestingly, she only started to show symptoms during her first
pregnancy, aged 28. Now at 53, she is making the transition from walking sticks
to wheelchair, but hopefully she won't be completely dependent on the chair.
> > > I'm trying to find out more information, because my mum has one of the
rare types of LGMD where her dysferlin function is normal. It is not known what
gene mutation causes her condition, but they assume it is recessively inherited
and that me and my sister will not be affected. My aunt is just starting to show
symptoms now, at 56 and going through menopause! I was just wondering if anyone
knows anything about it, or even knows someone that has this.
> > > My mum has a lot of muscle wastage on her thighs, and when she walks her
knees bend back at a horrible angle. However, her arms don't seem to be
affected. Like most of you, she can't stand on her tip-toes and falls over a
lot.
> > > Any information would mean a lot,
> > > Thanks, Louise.
> > >
> >
> >
> >
> >
> >
> >
> >
> >
> >
> > ____________ _________ _________ _________ _________ _________ _
> > Beyond Hotmail - see what else you can do with Windows Live.
> > http://clk.atdmt. com/UKM/go/ 134665375/ direct/01/
> >
>
>
>
>
>
>
>
>
>
> ____________ _________ _________ _________ _________ _________ _
> View your Twitter and Flickr updates from one place - Learn more!
> http://clk.atdmt. com/UKM/go/ 137984870/ direct/01/
>

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1b.

Re: Non-dysferlin LGMD
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Posted by: "patty martinez" pattymartinez1980@...
<mailto:pattymartinez1980@...?Subject= Re%3A%20Non-dysferlin%20LGMD>
pattymartinez1980 <http://profiles.yahoo.com/pattymartinez1980>


Tue Apr 21, 2009 9:47 am (PDT)



I'm so sorry that as a child you had to carry the guilt of your mothers
physical condition. My children don't know why this has happened but my older
son has the idea that what caused the symptoms was the pregnancies but we have
done our best to assure him that he was not the cause of my illness. We have
just explained that there are certain things in life that we can't explain and
may never understand but that this illness was already a part of me when i was
born.Â

--- On Tue, 4/21/09, Louise Needham <louiseneedham@...
<mailto:louiseneedham%40hotmail.com> > wrote:

From: Louise Needham <louiseneedham@...
<mailto:louiseneedham%40hotmail.com> >
Subject: RE: [dysferlin] Re: Non-dysferlin LGMD
To: dysferlin@yahoogroups.com <mailto:dysferlin%40yahoogroups.com>
Date: Tuesday, April 21, 2009, 9:26 AM

Hi Patty,
Â
Before posting on this group I hadn't heard of any other family who have the
dysferlin-positive type LGMD. I was trying to find an explanation as to whyÂ
my mum is so badly affected, but my aunt is only mildly affected. I now knowÂ
that I was just jumping to the wrong conclusions, and that everyone is affected
differently. Also, this will sound horrible, but when we were little me and
my sister were complaining about mum not being able to walk fast enough, and my
dad told us it was because of us she was like that. I just wish there was more
information about this disease! But I think this message board is really good
and helps people who have the disease by connecting them with others in the same
position.
Â

To: dysferlin@yahoogrou ps.com
From: pattymartinez1980@ yahoo.com
Date: Mon, 20 Apr 2009 20:46:00 -0700
Subject: Re: [dysferlin] Re: Non-dysferlin LGMD

Hi Louise
Â
I was reading your post about how children have affected people with lgmd. I
have 2 boys one age 11 and the other 4Â I really didn't notice much after my
first I was still able to squat, tip toe, and run then it wasn't till about 5
years later that i noticed i was really clumsy, and that i could no longer tip
toe. After my second son thats when the symptoms were really noticable and
really affected my everyday life. The Doctor once told me that sometimes this
disorder can be triggered by trauma or stress your body goes thru, but it is
not a concrete fact. I hope this helps good luck and take care.Â
--- On Sun, 4/19/09, DeejLouise <deejlouise@yahoo. com> wrote:

From: DeejLouise <deejlouise@yahoo. com>
Subject: [dysferlin] Re: Non-dysferlin LGMD
To: dysferlin@yahoogrou ps.com
Date: Sunday, April 19, 2009, 9:09 PM

Louise,

I can understand your paranoia about being suspect of your pains. Take comfort
in how rare this is and that it is a recessive trait not likely to have been
passed to you or your sister. I am constantly wondering if my aches and pains
are related to this or if they are just natural aging pains. I did a lot of
housework yesterday and my feet and back are killing me.

The weakness in my arms seem to be mostly the upper arms. They get tired
quickly with any overhead tasks. I gave my husband a hair cut and with in ten
minutes my arms started aching. I really wouldn't have thought it was related
except that I had an EMG test done and they tested my calves, thighs, hands and
upper arms and the test showed abnormalities in all areas. I do a lot of typing
at work and sometimes my shoulders will start hurting.

Take care,

Donna

--- In dysferlin@yahoogrou ps.com, Louise Needham <louiseneedham@ ...> wrote:
>
>
> Hi Donna,
>
>
>
> I guess I assumed that having children made things worse because my mum
started showing symptoms at her first pregnancy, and they got worse after her
second (me). Also, my aunt had no children and is only mildly affected at age
56. However, this is probably a coincidence, and just shows that everyone is
affected differently. My mum's walking has been affected for a long time, but I
don't think her knees started bending like that until about 10 years ago or so
(when she was in her early 40s). But even that was at least 10 years after
symptoms of LGMD started. It probably depends how big the mutation in your gene
is, and how much wear and tear you put yourself through.
>
>
>
> Since mum was diagnosed, we've been told that it's unlikely to get passed on.
But because the mutation is not known they can't test my dad for carrier-status.
I feel stupid for thinking it, but me and my sister get paranoid every time our
legs hurt!
>
>
>
> Is it your upper or lower arm that is weak (sorry I can't remember the proper
names for the muscles!)? Also, do you get pains in your hands? My mum has quite
strong arms (which helps), but has been mentioning having pains in her hand
recently. This might be pressure from using her walking sticks though.
>
>
>
> Best wishes,
>
> Louise
>
>
>
> To: dysferlin@yahoogrou ps.com
> From: deejlouise@. ..
> Date: Sun, 19 Apr 2009 20:29:29 +0000
> Subject: [dysferlin] Re: Non-dysferlin LGMD
>
>
>
>
>
>
>
> Louise,
>
> I live in Iowa, USA.
>
> You are also the first family I've come across that has what I have. Doctors
just know that I don't have dysferlin deficiency and that I have many of the
same symptoms as those that do. Along with my tip-toe issue, I have a lot of
fatty infiltration in my back muscles as well as muscle weakness in my calves,
thighs and arms. I mentioned that my brother is showing symptoms, but he hasn't
gone through any of the tests that I have been through. I don't know of anyone
else on my mother's side of the family that had this, so it must have been a
long ways down the family tree. Because this is on the recessive gene, no one
really thought about it being passed down, since my mom was definitely not
related to my dad.
>
> I'm very interested in how pregnacey affected your mother. I would still like
to have children, but because of my age (39) and not knowing how pregnancy would
affect my body, I wonder what I could possibly expect to happen. I know that
LGMD affects people differently so I know that how pregnancy affected her, may
not affect me in the same way, but being prepared would make it easier to
accept. I shouldn't have waited so long to start a family. :) I'm not totally
convinced that pregnancy has anything to do with the progression of LGMD since
my grandfather suffered quite severely from this and obviously he didn't give
birth! You cannot assume that because your mother had you, that she was worse
off. Also, how old was you mother when her knees began bending crazy? How old is
your aunt that suffers with this?
>
> Regards,
>
> Donna
>
> --- In dysferlin@yahoogrou ps.com, Louise Needham <louiseneedham@ > wrote:
> >
> >
> > Hi Donna,
> >
> >
> >
> > Thanks for replying so quickly! You're the first family I've heard of who
are dysferlin-positive as well, and it sounds like you have similar symptoms. My
mum was the first one in the family who had this (as far back as we know), but
now that my aunt has it at least we can assume it's recessive and not a new
mutation. It seems like such a rare thing, the specialist kept asking if my
grandparents were related since they must have both been carriers! (They weren't
though).
> >
> > Since the muscles in my mum's thighs are so wasted, she can't support
herself with her knees bent the right way. So I think it just started happening
when she was walking, her knees started hyperextending backwards because she
couldn't support them. The specialist we saw a couple of years ago said if she
carried on walking like that, eventually her knees would dislocate. He gave her
braces to wear that stopped her knees bending, but after walking like that for
so many years she couldn't get used to them. My aunt seems to be affected much
less severely, her knees don't bend back, but her muscles are a bit weak and she
can't stand on tip-toes. I think it affects you worse if you've had children,
which makes me feel awful!
> >
> > My mum has used walking sticks as long as I can remember (I'm 21), and her
walking has gotten gradually worse over the years. She still manages to go short
distances, but I was worried she was exerting herself too much, and now she uses
a wheelchair for the more strenuous things like shopping. My mum still stays
active - swimming is a good thing for her to do because she can use her arms
mostly.
> >
> > Just out of interest, where abouts are you? I'm in Newcastle, England.
> >
> >
> >
> > Best wishes,
> >
> > Louise
> >
> >
> >
> >
> >
> > To: dysferlin@yahoogrou ps.com
> > From: deejlouise@
> > Date: Thu, 16 Apr 2009 00:13:08 +0000
> > Subject: [dysferlin] Re: Non-dysferlin LGMD
> >
> >
> >
> >
> >
> >
> >
> > Hi Louise,
> >
> > What your mum and aunt suffer from sounds exactly what my grandfather
suffered from. They didn't have a diagnosis for him back when he first started
showing signs. They just diagnosed him with muscular dystrophy. He started
showing symptoms when he was in his late 30's and was wheelchair bound by his
60's. When I was a little girl, he was already using a cain to walk. His knees
would bend back too. I wasn't close to my grandfather as my folks were divorced
and he lived in a different state. But I do remember those few things. I now am
suffering from some non-dysferlin LGMD. I'm 39 years old and started noticing
symptoms about 2 years ago. I've under gone several tests, but all tests show
that dysferlin is present and functioning. I have 4 brothers and one of them (a
year older than me) is also developing symptoms. I only seem to have issues with
toe walking as my calf muscles have wasted away to practically nothing. My
brother, however, mentioned
burning sensations around his knees, which I'm wondering if this is perhaps the
beginnings of the crazy bending of the knee. He has also mentioned issues with
tip-toe. I would be interested in keeping up with your mother's progress, as she
seems to be on the same path of progression I'm heading towards.
> >
> > I'll stop rambling now...
> >
> > Donna
> > --- In dysferlin@yahoogrou ps.com, "louiseneedham21" <louiseneedham@ >
wrote:
> > >
> > > Hi I'm Louise, this is my first post.
> > > I don't have LGMD, but my mum has suffered with it for about 25 years
now. Interestingly, she only started to show symptoms during her first
pregnancy, aged 28. Now at 53, she is making the transition from walking sticks
to wheelchair, but hopefully she won't be completely dependent on the chair.
> > > I'm trying to find out more information, because my mum has one of the
rare types of LGMD where her dysferlin function is normal. It is not known what
gene mutation causes her condition, but they assume it is recessively inherited
and that me and my sister will not be affected. My aunt is just starting to show
symptoms now, at 56 and going through menopause! I was just wondering if anyone
knows anything about it, or even knows someone that has this.
> > > My mum has a lot of muscle wastage on her thighs, and when she walks her
knees bend back at a horrible angle. However, her arms don't seem to be
affected. Like most of you, she can't stand on her tip-toes and falls over a
lot.
> > > Any information would mean a lot,
> > > Thanks, Louise.
> > >
> >
> >
> >
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Re: Non-dysferlin LGMD
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Posted by: "Suzanne Croft" joesuzi.croft@...
<mailto:joesuzi.croft@...?Subject= Re%3A%20Non-dysferlin%20LGMD>
craftycroftyuk <http://profiles.yahoo.com/craftycroftyuk>


Wed Apr 22, 2009 2:05 am (PDT)



Hi

I have Miyoshi type LGMD and am now 40 for starters! My symptoms started in my
early 20s. I married at 23 and i have two kids which I had at 30 and 33. I
didn't notice any more worsening than the usual during this time. In fact, being
a mum has helped me to realise that I'm not the most important peron now in my
life and has given me a real focus. I think that if i hadn't have had kids then
I might have been tempted to "give in" a bit and let the disease win!

I still work part-time, managing a dental practice so i have a lot of contact
with the public. I use a wheelchair when I go out of the house with the
exception of when I'm at work (where I use an elbow crutch to help get around).
At work I am constantly hearing the phrase "what have you done" and I honestly
think they are expecting the answer like "i've torn a muscle" or "i've cracked a
bone". For this reason, and because I'm unlikely to see them again socially, I
usually just reply "oh nothing much!". This is not because I'm embarrased or
ashamed of the truth but because I find that usually the truth is too shocking
to a stranger who is just being polite. If they persist in question asking, or
if it is someone I've met socially, I would just say that I have Muscular
Dystrophy. If they are interested to know more they will usually ask at this
stage & I will answer their questions honestly. I also find that when I'm in my
wheelchair, far fewer people ask! Children are the best. They just come out and
ask what they're thinking and I find that a really simple answer like " my legs
don't work very well" satisfies them without scaring them (their parents are
usually coweriing in embassment that their child has asked!"

I hope I haven't rambled on too much but I feel sooooo strongly that positive
advice and thinking is the key to winning!

Take Care

Suzanne, Surrey UK
----- Original Message -----
From: DeejLouise
To: dysferlin@yahoogroups.com <mailto:dysferlin%40yahoogroups.com>
Sent: Sunday, April 19, 2009 9:29 PM
Subject: [dysferlin] Re: Non-dysferlin LGMD

Louise,

I live in Iowa, USA.

You are also the first family I've come across that has what I have. Doctors
just know that I don't have dysferlin deficiency and that I have many of the
same symptoms as those that do. Along with my tip-toe issue, I have a lot of
fatty infiltration in my back muscles as well as muscle weakness in my calves,
thighs and arms. I mentioned that my brother is showing symptoms, but he hasn't
gone through any of the tests that I have been through. I don't know of anyone
else on my mother's side of the family that had this, so it must have been a
long ways down the family tree. Because this is on the recessive gene, no one
really thought about it being passed down, since my mom was definitely not
related to my dad.

I'm very interested in how pregnacey affected your mother. I would still like
to have children, but because of my age (39) and not knowing how pregnancy would
affect my body, I wonder what I could possibly expect to happen. I know that
LGMD affects people differently so I know that how pregnancy affected her, may
not affect me in the same way, but being prepared would make it easier to
accept. I shouldn't have waited so long to start a family. :) I'm not totally
convinced that pregnancy has anything to do with the progression of LGMD since
my grandfather suffered quite severely from this and obviously he didn't give
birth! You cannot assume that because your mother had you, that she was worse
off. Also, how old was you mother when her knees began bending crazy? How old is
your aunt that suffers with this?

Regards,

Donna

--- In dysferlin@yahoogroups.com <mailto:dysferlin%40yahoogroups.com> , Louise
Needham <louiseneedham@...> wrote:
>
>
> Hi Donna,
>
>
>
> Thanks for replying so quickly! You're the first family I've heard of who are
dysferlin-positive as well, and it sounds like you have similar symptoms. My mum
was the first one in the family who had this (as far back as we know), but now
that my aunt has it at least we can assume it's recessive and not a new
mutation. It seems like such a rare thing, the specialist kept asking if my
grandparents were related since they must have both been carriers! (They weren't
though).
>
> Since the muscles in my mum's thighs are so wasted, she can't support herself
with her knees bent the right way. So I think it just started happening when she
was walking, her knees started hyperextending backwards because she couldn't
support them. The specialist we saw a couple of years ago said if she carried on
walking like that, eventually her knees would dislocate. He gave her braces to
wear that stopped her knees bending, but after walking like that for so many
years she couldn't get used to them. My aunt seems to be affected much less
severely, her knees don't bend back, but her muscles are a bit weak and she
can't stand on tip-toes. I think it affects you worse if you've had children,
which makes me feel awful!
>
> My mum has used walking sticks as long as I can remember (I'm 21), and her
walking has gotten gradually worse over the years. She still manages to go short
distances, but I was worried she was exerting herself too much, and now she uses
a wheelchair for the more strenuous things like shopping. My mum still stays
active - swimming is a good thing for her to do because she can use her arms
mostly.
>
> Just out of interest, where abouts are you? I'm in Newcastle, England.
>
>
>
> Best wishes,
>
> Louise
>
>
>
>
>
> To: dysferlin@yahoogroups.com <mailto:dysferlin%40yahoogroups.com>
> From: deejlouise@...
> Date: Thu, 16 Apr 2009 00:13:08 +0000
> Subject: [dysferlin] Re: Non-dysferlin LGMD
>
>
>
>
>
>
>
> Hi Louise,
>
> What your mum and aunt suffer from sounds exactly what my grandfather
suffered from. They didn't have a diagnosis for him back when he first started
showing signs. They just diagnosed him with muscular dystrophy. He started
showing symptoms when he was in his late 30's and was wheelchair bound by his
60's. When I was a little girl, he was already using a cain to walk. His knees
would bend back too. I wasn't close to my grandfather as my folks were divorced
and he lived in a different state. But I do remember those few things. I now am
suffering from some non-dysferlin LGMD. I'm 39 years old and started noticing
symptoms about 2 years ago. I've under gone several tests, but all tests show
that dysferlin is present and functioning. I have 4 brothers and one of them (a
year older than me) is also developing symptoms. I only seem to have issues with
toe walking as my calf muscles have wasted away to practically nothing. My
brother, however, mentioned burning sensations around his knees, which I'm
wondering if this is perhaps the beginnings of the crazy bending of the knee. He
has also mentioned issues with tip-toe. I would be interested in keeping up with
your mother's progress, as she seems to be on the same path of progression I'm
heading towards.
>
> I'll stop rambling now...
>
> Donna
> --- In dysferlin@yahoogroups.com <mailto:dysferlin%40yahoogroups.com> ,
"louiseneedham21" <louiseneedham@> wrote:
> >
> > Hi I'm Louise, this is my first post.
> > I don't have LGMD, but my mum has suffered with it for about 25 years now.
Interestingly, she only started to show symptoms during her first pregnancy,
aged 28. Now at 53, she is making the transition from walking sticks to
wheelchair, but hopefully she won't be completely dependent on the chair.
> > I'm trying to find out more information, because my mum has one of the rare
types of LGMD where her dysferlin function is normal. It is not known what gene
mutation causes her condition, but they assume it is recessively inherited and
that me and my sister will not be affected. My aunt is just starting to show
symptoms now, at 56 and going through menopause! I was just wondering if anyone
knows anything about it, or even knows someone that has this.
> > My mum has a lot of muscle wastage on her thighs, and when she walks her
knees bend back at a horrible angle. However, her arms don't seem to be
affected. Like most of you, she can't stand on her tip-toes and falls over a
lot.
> > Any information would mean a lot,
> > Thanks, Louise.
> >
>
>
>
>
>
>
>
>
>
> __________________________________________________________
> Beyond Hotmail - see what else you can do with Windows Live.
> http://clk.atdmt.com/UKM/go/134665375/direct/01/
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2a.

What to Say, Shopping etc.
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Posted by: "Christina Ray" okchristinabelle@...
<mailto:okchristinabelle@...?Subject=
Re%3AWhat%20to%20Say%2C%20Shopping%20etc%2E> okchristinabelle
<http://profiles.yahoo.com/okchristinabelle>


Tue Apr 21, 2009 6:51 pm (PDT)



Hello everyone. I haven't posted in a while and I always get nervous when I do.
I guess because I'm afraid I can't convey what I would like to. With that in
mind I have a couple of things to comment on.
Louise had commented on how great this group is and I have to second that
motion. It's comforting to know that other people are going thru the same thing.
I feel like I have gotten more information about this condition from this group
than from all the other sites I have come across.
What to say to folks that ask...
I can't recall any strangers asking about my condition when I'm just out and
about. I was in the hospital last month for a hystorectomy, and that was the
first time I have been around folks that didn't know what was going on with me.
I found myself wanting to tell them all about what's happened to me in the last
two years. I live in a pretty small town in Southeast Oklahoma and I see that my
Friends and "Friends" don't really know what to say. My best friend told me not
to long ago that it just freaks her out and she hasn't been around much because
she doesn't know what to do. I was up running around, taking care of my dad, who
has MS, hiking and just out and about all the time two years ago. Now I am
unable to stand by myself and am in a wheelchair all the time. I have pretty
much gotten over the whole thing, but I don't think my friends have.

On a more positive note...I went shopping for clothes today for the first time
since being in a wheelchair. You have to look at clothing much differently when
you shop to be sitting down....It was a bit of a chore, but my wonderful
boyfriend helped me and I got a few new outfits.

One last thing. I mentioned a while back that you never see people in
wheelchairs on game shows. I was watching the Price is Right the other day and
lo and behold....they called a woman in a wheelchair.

I'm going to do the genetic testing with the Jain Foundation as soon as I can
get everything coordinated.
Okay, that's all I have to comment on in this posting. Ya'll take care.
Christina


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Re: What to Say, Shopping etc.
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Posted by: "Miriam Mejia" mmejia_28@...
<mailto:mmejia_28@...?Subject=
Re%3A%20What%20to%20Say%2C%20Shopping%20etc%2E> mmejia_28
<http://profiles.yahoo.com/mmejia_28>


Tue Apr 21, 2009 11:05 pm (PDT)



Bex,
I'm not the only one!! Yes I have a boyfriend but I feel that if I am in a
wheelchair, it would change everything! including him, and i know that i do not
for a fact know this but i am paranoid because i do not want to be a burden on
anyone. i feel like i wont be able to go out and have fun so that worries me and
because if this fear, i feel like its taken a toll on my relationship. Your
words are inspiring and couldn't have come at a better time. (thanks)
You have very good points and i appreciate your honesty. thanks again,
Miriam

________________________________
From: Christina Ray <okchristinabelle@...
<mailto:okchristinabelle%40yahoo.com> >
To: dysferlin@yahoogroups.com <mailto:dysferlin%40yahoogroups.com>
Sent: Tuesday, April 21, 2009 6:50:42 PM
Subject: [dysferlin] What to Say, Shopping etc.

Hello everyone. I haven't posted in a while and I always get nervous when I do.
I guess because I'm afraid I can't convey what I would like to. With that in
mind I have a couple of things to comment on.
Louise had commented on how great this group is and I have to second that
motion. It's comforting to know that other people are going thru the same thing.
I feel like I have gotten more information about this condition from this group
than from all the other sites I have come across.
What to say to folks that ask...
I can't recall any strangers asking about my condition when I'm just out and
about. I was in the hospital last month for a hystorectomy, and that was the
first time I have been around folks that didn't know what was going on with me.
I found myself wanting to tell them all about what's happened to me in the last
two years. I live in a pretty small town in Southeast Oklahoma and I see that my
Friends and "Friends" don't really know what to say. My best friend told me not
to long ago that it just freaks her out and she hasn't been around much because
she doesn't know what to do. I was up running around, taking care of my dad, who
has MS, hiking and just out and about all the time two years ago. Now I am
unable to stand by myself and am in a wheelchair all the time. I have pretty
much gotten over the whole thing, but I don't think my friends have.

On a more positive note...I went shopping for clothes today for the first time
since being in a wheelchair. You have to look at clothing much differently when
you shop to be sitting down....It was a bit of a chore, but my wonderful
boyfriend helped me and I got a few new outfits.

One last thing. I mentioned a while back that you never see people in
wheelchairs on game shows. I was watching the Price is Right the other day and
lo and behold....they called a woman in a wheelchair.

I'm going to do the genetic testing with the Jain Foundation as soon as I can
get everything coordinated.
Okay, that's all I have to comment on in this posting. Ya'll take care.
Christina


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