Hi everyone! I thought this would be a great place to post about my
experiences in life having SJS. I know a lot of parents are concerned
when their children are diagnosed with SJS. Mine were sone of them.
I was born in Iowa in 1978 (I'm 31 now). I have 2 brothers and 1
sister, all of which are 'normal'. There is no history of any sort of
Muscular Dystrophy in my family and my parents are NOT related.
My dad was in the military, so I moved around a lot. While we went
along, we educated people about my condition. I never met anyone else
with SJS. Children were mean, which is understandable when you don't
know any better. I still had a lot of friends, even though I was VERY
shy. My mother was very protective of me and fought a lot with schools
over gym class and leaving class early to make it to my next class.
Most were accomidating.
Later I went to college. By then, I was over being shy, and openly
told my friends what I had. They were very understanding. During the
first week, I met my husband. Of course, he likes to hike, rock climb,
camp, and many other very strenuous activities. He understood me from
day one. We got married in 2001 and he joined the Air Force as a
fighter pilot. Shortly after, I graduated college with a degree in
Mechanical Engineering.
After being married for 3 years, we decided that we wanted to have a
child. We did a lot of research on the internet, but there was nothing
about anyone with SJS conceiving and carrying a child, let alone what
it was like afterwards! We knew that the probablilty of us having a
child with SJS was not even possible unless my DH had the affected
gene (we went to genetic counseling).
After 1 year, we conceived, but it ended in a miscarriage early on. We
were devestated, but were determined to try again. It took us another
year to conceive again, but this time it took! We were excited and
scared. I was more excited, but my DH was more scared for my safety.
The first few months, I went to regular OBGYN's. When one of the
normal screenings (the screening for downs syndrome) came back that
there could be a problem with the baby, then I started seeing many
numerous doctors. I was worried that the baby had SJS. After an
ultrasound, the doctors could not find anything abnormal - and me and
my DH were relieved.
I was more tired than normal during the first two trimesters of my
pregnancy, but the baby was growing and moving like crazy! I saw a
bunch of doctors (and each new one I had to explain my condition -
most did not understand the gravity of the situation either, which was
quite annoying). During the last trimester I got my energy back (or at
least the energy that I was accustomed to) and the baby was up to 5
pounds. It was already decided that I was going to have a c-section b/
c I knew that I didn't have enough energy to push. During the last
month, when the baby is supossed to gain 1 pound a week, mine did not,
nor did my belly get any bigger. The doctors were concerned and
ordered more ultrasounds to check on the umbilical cord to make sure
the baby was getting enough food. Sure enough, everything was normal
with the baby, she just did not have anywhere to grow. My stomach
muscles were so tight and stretched to their capacity that they
wouldn't give another inch.
Our lovely daughter was born 2 weeks early at 5 lbs, 1 oz through c-
section. She passed all health screenings with flying colors. Now came
the hard part - taking care of a baby. The first few months were
extremely difficult, especially with the stitches from surgery, lack
of sleep, breastfeeding, and all the normal baby things. Luckily I
have a very helpful family - my mom and dad came out to help for a
month and my DH would help too. After my parents left, my DH would get
up with me a lot in the middle of the night and help put the baby back
to bed so I could rest after feeding her. Each night got a little
better and then we seemed to get a routine going. Then everything got
a little better and I could see myself getting through it - I COULD do
it. I had the strength - or maybe I HAD to have the strength for our
little girl and I willed my body to do it.
Our little girl is now 3 1/2. I always tell people that she not only
has the energy of a normal 3 year old, but she was born with the
energy that I was supposed to have!!!! She is a joy to have and does
all of the things that I could never do - tumbling, running, etc.
She's smart as a whip too! Things are going so great that we are
considering having another one, but we haven't made up our minds yet.
Sometimes I think we've lost our minds for even considering it!
The reason why I posted all of this is so the parents of children with
SJS can have some hope. My life isn't bad at all. Don't get me wrong,
I would LOVE to be 'normal', but I'm also glad that I'm the way that I
am. Otherwise, I would be different and who knows where I would be.
If anyone has any questions, let me know - I'm more than happy to
share any of my life stories with you or hear yours as well.
That is a wonderful story Elizabeth! You are the first female with SJS
that I've met. I've had contact with people with SJS in Louisiana,
Florida, Arizona & Norway. The guy in Florida is highly mobile. He
drives and walks everywhere he goes with no problem. I know of a child
in Australia as well.
Some facts about me:
I was diagnosed at about 6 though it took a while to determine what it
is. No siblings for me. My father and I are the first recorded
father son pair with sjs. Currently I have an Intrathecal Baclofen
Pump and take Dilantin (for SJS not epilepsy). SJS causes most of my
respiratory issues, asthma, apnea requiring a bipap, & oxygen.
I walk short distances with a cane (apartment, office) otherwise I use
an electric scooter
> Hi everyone! I thought this would be a great place to post about my
> experiences in life having SJS. I know a lot of parents are concerned
> when their children are diagnosed with SJS. Mine were sone of them.
> I was born in Iowa in 1978 (I'm 31 now). I have 2 brothers and 1
> sister, all of which are 'normal'. There is no history of any sort of
> Muscular Dystrophy in my family and my parents are NOT related.
> My dad was in the military, so I moved around a lot. While we went
> along, we educated people about my condition. I never met anyone else
> with SJS. Children were mean, which is understandable when you don't
> know any better. I still had a lot of friends, even though I was VERY
> shy. My mother was very protective of me and fought a lot with schools
> over gym class and leaving class early to make it to my next class.
> Most were accomidating.
> Later I went to college. By then, I was over being shy, and openly
> told my friends what I had. They were very understanding. During the
> first week, I met my husband. Of course, he likes to hike, rock climb,
> camp, and many other very strenuous activities. He understood me from
> day one. We got married in 2001 and he joined the Air Force as a
> fighter pilot. Shortly after, I graduated college with a degree in
> Mechanical Engineering.
> After being married for 3 years, we decided that we wanted to have a
> child. We did a lot of research on the internet, but there was nothing
> about anyone with SJS conceiving and carrying a child, let alone what
> it was like afterwards! We knew that the probablilty of us having a
> child with SJS was not even possible unless my DH had the affected
> gene (we went to genetic counseling).
> After 1 year, we conceived, but it ended in a miscarriage early on. We
> were devestated, but were determined to try again. It took us another
> year to conceive again, but this time it took! We were excited and
> scared. I was more excited, but my DH was more scared for my safety.
> The first few months, I went to regular OBGYN's. When one of the
> normal screenings (the screening for downs syndrome) came back that
> there could be a problem with the baby, then I started seeing many
> numerous doctors. I was worried that the baby had SJS. After an
> ultrasound, the doctors could not find anything abnormal - and me and
> my DH were relieved.
> I was more tired than normal during the first two trimesters of my
> pregnancy, but the baby was growing and moving like crazy! I saw a
> bunch of doctors (and each new one I had to explain my condition -
> most did not understand the gravity of the situation either, which was
> quite annoying). During the last trimester I got my energy back (or at
> least the energy that I was accustomed to) and the baby was up to 5
> pounds. It was already decided that I was going to have a c-section b/
> c I knew that I didn't have enough energy to push. During the last
> month, when the baby is supossed to gain 1 pound a week, mine did not,
> nor did my belly get any bigger. The doctors were concerned and
> ordered more ultrasounds to check on the umbilical cord to make sure
> the baby was getting enough food. Sure enough, everything was normal
> with the baby, she just did not have anywhere to grow. My stomach
> muscles were so tight and stretched to their capacity that they
> wouldn't give another inch.
> Our lovely daughter was born 2 weeks early at 5 lbs, 1 oz through c-
> section. She passed all health screenings with flying colors. Now came
> the hard part - taking care of a baby. The first few months were
> extremely difficult, especially with the stitches from surgery, lack
> of sleep, breastfeeding, and all the normal baby things. Luckily I
> have a very helpful family - my mom and dad came out to help for a
> month and my DH would help too. After my parents left, my DH would get
> up with me a lot in the middle of the night and help put the baby back
> to bed so I could rest after feeding her. Each night got a little
> better and then we seemed to get a routine going. Then everything got
> a little better and I could see myself getting through it - I COULD do
> it. I had the strength - or maybe I HAD to have the strength for our
> little girl and I willed my body to do it.
> Our little girl is now 3 1/2. I always tell people that she not only
> has the energy of a normal 3 year old, but she was born with the
> energy that I was supposed to have!!!! She is a joy to have and does
> all of the things that I could never do - tumbling, running, etc.
> She's smart as a whip too! Things are going so great that we are
> considering having another one, but we haven't made up our minds yet.
> Sometimes I think we've lost our minds for even considering it!
> The reason why I posted all of this is so the parents of children with
> SJS can have some hope. My life isn't bad at all. Don't get me wrong,
> I would LOVE to be 'normal', but I'm also glad that I'm the way that I
> am. Otherwise, I would be different and who knows where I would be.
> If anyone has any questions, let me know - I'm more than happy to
> share any of my life stories with you or hear yours as well.
Thanks for the info Aaron! I have never even spoke with anyone with
SJS. I lived in Louisiana for quite awhile (went to college there) and
I'm reg. seen at the MDA clinic there in Shreveport.
I guess you could say that I am lucky in the fact that I can walk and
drive. My muscles get extremely stiff, but I find that if I move
around a lot, they tend to relax. I am not on any meds except
Ibuprophen (occasionally) and some migrane meds.
We are currently stationed at Whidbey Island, Wa, but who knows where
we'll be next.
I don't have a blog or anything, so I don't have any pictures posted
to the web. I'll e:mail you a recent pic if you like.
Oops! I forgot to add that I was the 21st case diagnosed. I was
diagnosed when I was 2 because my mother knew there was something
wrong and was VERY persistent with the doctors to find out what it was.
On Tue, May 5, 2009 at 2:06 PM, Elizabeth G. <lizgui...@yahoo.com> wrote:
> Oops! I forgot to add that I was the 21st case diagnosed. I was
> diagnosed when I was 2 because my mother knew there was something
> wrong and was VERY persistent with the doctors to find out what it was.
On Tue, May 5, 2009 at 2:15 PM, Liz Guidry <lizgui...@yahoo.com> wrote:
> Here is a recent picture of me and my family. I hope everything with your
> wife is O.K.
> -Liz
> --- On Tue, 5/5/09, aaron.t.pa...@gmail.com <aaron.t.pa...@gmail.com> wrote:
> From: aaron.t.pa...@gmail.com <aaron.t.pa...@gmail.com>
> Subject: Re: About Me
> To: "Schwartz-Jampel Syndrome" <schwartz-jampel-syndrome@googlegroups.com>
> Date: Tuesday, May 5, 2009, 10:37 AM
> That is a wonderful story Elizabeth! You are the first female with SJS
> that I've met. I've had contact with people with SJS in Louisiana,
> Florida, Arizona & Norway. The guy in Florida is highly mobile. He
> drives and walks everywhere he goes with no problem. I know of a child
> in Australia as well.
> Some facts about me:
> I was diagnosed at about 6 though it took a while to determine what it
> is. No siblings for me. My father and I are the first recorded
> father son pair with sjs. Currently I have an Intrathecal Baclofen
> Pump and take Dilantin (for SJS not epilepsy). SJS causes most of my
> respiratory issues, asthma, apnea requiring a bipap, & oxygen.
> I walk short distances with a cane (apartment, office) otherwise I use
> an electric scooter
> On May 5, 1:14 pm, "Elizabeth G." <lizgui...@yahoo.com> wrote:
>> Hi everyone! I thought this would be a great place to post about my
>> experiences in life having SJS. I know a lot of parents are concerned
>> when their children are diagnosed with SJS. Mine were sone of them.
>> I was born in Iowa in 1978 (I'm 31 now). I have 2 brothers and 1
>> sister, all of which are 'normal'. There is no history of any sort
> of
>> Muscular Dystrophy in my family and my parents are NOT related.
>> My dad was in the military, so I moved around a lot. While we went
>> along, we educated people about my condition. I never met anyone else
>> with SJS. Children were mean, which is understandable when you don't
>> know any better. I still had a lot of friends, even though I was VERY
>> shy. My mother was very protective of me and fought a lot with schools
>> over gym class and leaving class early to make it to my next class.
>> Most were accomidating.
>> Later I went to college. By then, I was over being shy, and openly
>> told my friends what I had. They were very understanding. During the
>> first week, I met my husband. Of course, he likes to hike, rock climb,
>> camp, and many other very strenuous activities. He understood me from
>> day one. We got married in 2001 and he joined the Air Force as a
>> fighter pilot. Shortly after, I graduated college with a degree in
>> Mechanical Engineering.
>> After being married for 3 years, we decided that we wanted to have a
>> child. We did a lot of research on the internet, but there was nothing
>> about anyone with SJS conceiving and carrying a child, let alone what
>> it was like afterwards! We knew that the probablilty of us having a
>> child with SJS was not even possible unless my DH had the affected
>> gene (we went to genetic counseling).
>> After 1 year, we conceived, but it ended in a miscarriage early on. We
>> were devestated, but were determined to try again. It took us another
>> year to conceive again, but this time it took! We were excited and
>> scared. I was more excited, but my DH was more scared for my safety.
>> The first few months, I went to regular OBGYN's. When one of the
>> normal screenings (the screening for downs syndrome) came back that
>> there could be a problem with the baby, then I started seeing many
>> numerous doctors. I was worried that the baby had SJS. After an
>> ultrasound, the doctors could not find anything abnormal - and me and
>> my DH were relieved.
>> I was more tired than normal during the first two trimesters of my
>> pregnancy, but the baby was growing and moving like crazy! I saw a
>> bunch of doctors (and each new one I had to explain my condition -
>> most did not understand the gravity of the situation either, which was
>> quite annoying). During the last trimester I got my energy back (or at
>> least the energy that I was accustomed to) and the baby was up to 5
>> pounds. It was already decided that I was going to have a c-section b/
>> c I knew that I didn't have enough energy to push. During the last
>> month, when the baby is supossed to gain 1 pound a week, mine did not,
>> nor did my belly get any bigger. The doctors were concerned and
>> ordered more ultrasounds to check on the umbilical cord to make sure
>> the baby was getting enough food. Sure enough, everything was normal
>> with the baby, she just did not have anywhere to grow. My stomach
>> muscles were so tight and stretched to their capacity that they
>> wouldn't give another inch.
>> Our lovely daughter was born 2 weeks early at 5 lbs, 1 oz through c-
>> section. She passed all health screenings with flying colors. Now came
>> the hard part - taking care of a baby. The first few months were
>> extremely difficult, especially with the stitches from surgery, lack
>> of sleep, breastfeeding, and all the normal baby things. Luckily I
>> have a very helpful family - my mom and dad came out to help for a
>> month and my DH would help too. After my parents left, my DH would get
>> up with me a lot in the middle of the night and help put the baby back
>> to bed so I could rest after feeding her. Each night got a little
>> better and then we seemed to get a routine going. Then everything got
>> a little better and I could see myself getting through it - I COULD do
>> it. I had the strength - or maybe I HAD to have the strength for our
>> little girl and I willed my body to do it.
>> Our little girl is now 3 1/2. I always tell people that she not only
>> has the energy of a normal 3 year old, but she was born with the
>> energy that I was supposed to have!!!! She is a joy to have and does
>> all of the things that I could never do - tumbling, running, etc.
>> She's smart as a whip too! Things are going so great that we are
>> considering having another one, but we haven't made up our minds yet.
>> Sometimes I think we've lost our minds for even considering it!
>> The reason why I posted all of this is so the parents of children with
>> SJS can have some hope. My life isn't bad at all. Don't get me
> wrong,
>> I would LOVE to be 'normal', but I'm also glad that I'm
> the way that I
>> am. Otherwise, I would be different and who knows where I would be.
>> If anyone has any questions, let me know - I'm more than happy to
>> share any of my life stories with you or hear yours as well.
I was wondering since you are not on any medications for SJS, is there
anything else that you are doing or taking that helps with the
stiffness. Many people have suggested herbs, streaches or hot baths,
but since Nathan is still young it is hard to know what is really
working. I used to take him to my in-laws to soak in the hot tub for
a few minutes but that is when he was younger. I don't know if he
felt any better. Also like Aaron said, I have noticed that when
Nathan has a fever his muscles are soft and his face looks different.
Anyone feel free to respond...
On May 5, 12:03 pm, "Elizabeth G." <lizgui...@yahoo.com> wrote:
> Thanks for the info Aaron! I have never even spoke with anyone with
> SJS. I lived in Louisiana for quite awhile (went to college there) and
> I'm reg. seen at the MDA clinic there in Shreveport.
> I guess you could say that I am lucky in the fact that I can walk and
> drive. My muscles get extremely stiff, but I find that if I move
> around a lot, they tend to relax. I am not on any meds except
> Ibuprophen (occasionally) and some migrane meds.
> We are currently stationed at Whidbey Island, Wa, but who knows where
> we'll be next.
> I don't have a blog or anything, so I don't have any pictures posted
> to the web. I'll e:mail you a recent pic if you like.
That is a great question. To be honest, I don't really know what I did
when I was younger to combat the stiffness except deal with it. Back
then, I saw a lot of military doctors that were not familiar with my
condition and had no suggestions for me. In fact, I have never heard
of any of the medications mentioned here in the forum. Even the MDA
doctors who see me now don't mention them because I don't need them. I
don't know what I did, except work through the stiffness and somehow I
accepted the pain and now it rarely bothers me. I have more problems
with fatigue and shortness of breath because I push myself everyday to
do things. I work at it everyday. I drag myself out of bed (although I
would rather sleep) and force the muscles to work. I take ibuprophen
here and there (the 500mg kind) and at the end of the day I relax with
a glass or 2 of wine (although obviously I don't suggest that for
children - haha!). I do like to take hot showers and sit in jacuzzi
tubs (although I do not own a jacuzzi).
Activities I did A LOT as a kid-to-teenager: biking, walking around
the neighborhood/stores, swinging (for hours), swimming (although I
cannot tread water or swim for long distances), and read.
I have not noticed a difference when I have a fever except I'm just
MORE exhausted my muscles feel extrememly tired and I don't even want
to move. It seems like my body always runs at a slightly higher temp
than the norm. b/c I am usually ALWAYS hot and when I was pregnant, I
was sweating in the winter!
I don't know if this helps you or not. I will think about it more and
if something comes to mind, I'll let you know.
I also remembered last night that I sleep on an extra firm matress and
I always have. If it is too hard, then I used to put one of those egg
crate covers over it. When I got married, my husband went to a matress
factory and ordered the firmest one they had, but then he had them sew
one of those thin pillowtop pads to it. The ppl thought he was crazy,
but it is soooo comfy! I cannot sleep if the matress is soft b/c when
I move and sink in, my muscles tense up. I always wake up feeling sore
and tired b/c my muscles worked out all night. But with my matress, I
can roll over and my muscles don't have to fight with the matress so
much, so it is easier for them to rest.
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