I had to take Sophie to the ER today.  It was the first time I have had to use the "treatment plan" letter.  She didnt' actually seem that sick to me she just smelled really funny and it wasn't the carnitine smell.  It was the smell she would have last winter when she was in and out of the hospital so much.  She has been battling a cold this week and has been REALLY cranky.  She also absolutely refused to eat or drink anything so we have been on nothing but tube feeds for 4 days. I decided it was time to at least get the labs checked.  I second guessed myself all the way down there.  I kept thinking, "I'm gonna put her through all this and they'll tell me nothing is wrong!"  Well I ended up being really glad I took her.  She was spilling ketones in her urine and they said the smell was ketosis.  They gave her dextrose for about 2 hours and I could see her getting better with every minute.  It was the best she looked in over a week. They let me bring her home because she has the g-tube.  They told me if she didn't have that they would have kept her all weekend.  So home we came with a plan to increase her feeds until she will start eating on her own again.  So not only was the letter a huge help in getting things done for her but the ER doc that saw her came from a hospital in Pittsburgh and actually KNEW what mito was!  I finally got a doc I didn't have to explain it to!

Meagan, Mom to Sophia, 19 months, Complex I, III, IV www.caringbridge.org/ky/sophiesong

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-- 

Hi

Thanks for all your help regarding what cardiologists should do given
Asher's speedy heart rate and chest pain. I felt like I carried
everyone's knowledge with me when I went into the appointment and I do
feel that the dr listened. Asher's heart looks normal so there's no
cardiomyopathy- thank God! The doctor does want Asher on an 'event
recorder' (a heart monitor that he will wear and we can activate when
he complains of his heart going too fast or hurting) for a month or two
to sort out what's going on. She suspects that it's autonomic nervous
system dysregulation and that there is probably nothing we can do about
it. My understanding from her is that as long as his heart is speeding
up but still staying in the correct rhythm (just faster), it's okay.
She was clear with me that if he complains of his heart beating too
fast and it continues for 45 minutes or so then we need to go to the
ER. I feel relieved that she did a thorough exam and also that we can
monitor these symptoms for the next month or so. Plus, I have clear
guidelines on what to do and when to do it.

I ran this all by our mito doc and he thought it sounded right.

Anne R


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Hi

Thanks for all your help regarding what cardiologists should do given
Asher's speedy heart rate and chest pain. I felt like I carried
everyone's knowledge with me when I went into the appointment and I do
feel that the dr listened.  Asher's heart looks normal so there's no
cardiomyopathy- thank God! The doctor does want Asher on an 'event
recorder' (a heart monitor that he will wear and we can activate when
he complains of his heart going too fast or hurting) for a month or two
to sort out what's going on. She suspects that it's autonomic nervous
system dysregulation and that there is probably nothing we can do about
it. My understanding from her is that as long as his heart is speeding
up but still staying in the correct rhythm (just faster), it's okay.
She was clear with me that if he complains of his heart beating too
fast and it continues for 45 minutes or so then we need to go to the
ER. I feel relieved that she did a thorough exam and also that we can
monitor these symptoms for the next month or so. Plus, I have clear
guidelines on what to do and when to do it.

I ran this all by our mito doc and he thought it sounded right.

Anne R

----- Original Message -----

From: VisibleWorship@...

To: Mito@yahoogroups.com

Sent: Friday, December 02, 2005 3:10 PM

Subject: Re: Deb// [Mito] Ethan's preliminary biopsy results

In a message dated 12/2/2005 1:17:31 AM Central Standard Time, berlydawn4kids@... writes:

"Even Shoffner uses four different terms in his report for the same finding...like Complex IV is known that way, Leighs, COX and disease of Oxidative Phosphorlation." Is Complex IV the same as Leighs ?? Am I oblivious,or what ? We are going back to the Mito Dr in Houston next week,,and I just want to be prepared. I don't want to get there and get some shocking news. Do you know exactly how Leighs is dx ? 

Hey there

 

not sure I can answer all of your question and unfortunately the UMDF website isn't much help (what else is new) so I will say what I think the right answer is and someone can correct me if I am wrong. 

 

COX and Complex IV can CAUSE Leighs.  I don't know how that part works exactly.  Leighs is also dxed by muscle as far as I know but they can also see certain characteristic changes on an MRI.  So that's the deal.  I think Leighs would always involve an encephalopathy...deterioration of the brain. 

 

Andrew's general categorization was "Mitochondrial Encephalomyopathy" meaning a disease of muscle and brain in mitochondrial process.  So that's what I know. 

 

does that help?  didn't think so...clear as mud, right?  That's exactly what my point was though...that there are too many terms that don't have precise definition.

 

deb...mom to four fab adopted kiddos...Andrew (07.04.96-05.26.03) with Mitochondrial Encephalomyopathy, Complex I and IV, I+III, II+III...Gaige, 6, with High Functioning Autism, Hypoglycemia and Precocious Puberty...Bliss, 4, with VERY mild Cerebral Palsy...and True (born 01.18.05) with Cerebral Palsy, Myoclonus/Seizures, GERD, Eosinophilic Esophogitis/Gastritis plus severe food allergies, Plagiocephaly and Dysphagia....Married for 12 years to Fred--one swell guy! www.caringbridge.org/tn/wells/ www.LifeofLoveProject.org

---

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Thank you to all who responded!  With the help of a list member who e-
mailed me too, we are getting a plan in place that (if it works!) will
not require us to go to Baltimore.

Yes, Cincinnati is one of the labs that runs the test.  (I was told by
someone at CHOP that a hospital in Buffalo does too, but I don't know
which hospital it is or what test they do.)  The sample has to be
properly drawn and refrigerated for shipping, so it's important that
the phlebotomist who's taking the sample knows the procedures.

If you need to get a copy of their procedures, shipping info, and
billing info, the phone number for the Clinical Outpatient Lab in
Cincinnati is 513-636-4281.

Lisa

----- Original Message -----

From: ilikemonstertrucks

To: Mito@yahoogroups.com

Sent: Thursday, December 01, 2005 6:07 PM

Subject: [Mito] Re: Unconfirmed Mito diagnosis Keely

Ive never even heard of these...  do you have any info?
thanks,
Keely


--- In Mito@yahoogroups.com, "Cj Dir" <gstone98@t...> wrote:
>
> Hi Keely:
>  Have you tried Carnosine, Omega 3 fish oils and DMG for apraxia?
>   ----- Original Message -----
>   From: ilikemonstertrucks
>   To: Mito@yahoogroups.com
>   Sent: Wednesday, November 30, 2005 5:37 PM
>   Subject: [Mito] Re: Unconfirmed Mito diagnosis
>
>
>   Aside from the heart problems you just described my son.
>   Brandon will be 3 on Monday. 
>   He has a heart murmer, but so far his heart is generally
healthy.
>
>   He doesnt talk, signs very well though, and understands
>   EVERYTHING...  Hes been in therapy for over a year and has made
very
>   very little progress. 
>
>   He can walk and run also but is terribly uncoordinated and
>   stumbles/falls alot.  its termed ataxia. 
>
>   the conclusion at this point is he has ataxia of his legs and
>   mouth... apparently it can affect the mouth muscles, making it
very
>   hard to talk and control the mouth, but understanding stays age
>   appropriate. 
>
>   he is also small, (38 inches, 29 lbs). 
>
>   Has your son had a muscle biopsy?
>   what is pointing them to mito? 
>
>   How long was he on the cocktail? 
>
>   Brandon started the cocktail in January, and we seriously only
>   started seeing improvements after 5 months...  since then they
have
>   been steady...  it might be worth it to keep him on them...  
>
>   Keely
>
>
>
>
>   --- In Mito@yahoogroups.com, "angieandclinton"
>   <angieandclinton@y...> wrote:
>   >
>   > I was wondering if anyone could maybe help me feel a little
better
>   > about my son's condition.  He is almost 3 years old.  He got
very
>   > sick at 5 weeks and has since been diagnosed with Dilated
>   > Cardiomyopathy with non compaction of the left vent *he's on
>   Vasotec)
>   > he had seizures until he was one, he has delayed myelination,
is
>   > very small for his age (35 inches tall and 25 lbs), and he is
also
>   > very delayed.  He walks and runs though he's a little
>   uncoordinated,
>   > but he doesn't speak.  He has therapy, but it doesn't work. 
He
>   > signs and shakes his head, but won't say a word.  His heart
isn't
>   > doing well, his shortening fraction was only 17 percent last
time
>   he
>   > was at the Cardio dr.  He was on a mito cocktail, but I gave
up on
>   > it bc it didn't seem to do a thing, and he was never actually
>   > diagnosed with having a mito disease.  I guess what I'm
getting at
>   > is I feel really guilty that he's sick and I can't do anything
>   about
>   > it, and I feel like I've run in circles for so long that I've
just
>   > kind of given up in regard to figuring it all out.  Until he
was 2
>   > he had 18 or so Dr appts a month at Boston Children's and I
don't
>   > know where to go from here.  He's had every test they could
think
>   to
>   > do done, and we've been at a stand still.  Does anyone have
any
>   > ideas on what it may be... or anything that can help me get
over
>   my
>   > child being sick and not being like all the other kids his
age... 
>   > that I don't know if he'll get to grow up.  I'm a young single
>   > mother and just need some words of encouragement about all of
it. 
>   > Maybe someone can help me out...
>   >
>
>
>
>
>
>
>
>   Please contact mito-owner@yahoogroups.com with any problems or
questions.
>   Yahoo! Groups Links
>






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Yahoo! Groups Links

<*> To visit your group on the web, go to:
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    Mito-unsubscribe@yahoogroups.com

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    http://docs.yahoo.com/info/terms/
 

Leigh Disease (Subacute Necrotizing Encephalomyopathy):  Leigh
Disease is a rare, inherited, neurometabolic (affects the metabolism
or internal workings of nerve cells) disorder. It most commonly
occurs in children and is characterized by rapid, progressive break
down of the function of the central nervous system (the brain and
the spinal cord). This rapid break down of function is due to
problems in the mitochondria. Mitochondria are tiny structures that
act as the "powerhouse" in every cell in the body; they are the
energy producing part of the cell. The mitochondria has enzymes that
work together in a system called the electron transport chain,
converting food and oxygen into the energy needed to fuel the cell's
functions and the body's normal processes. In Leigh's Disease, these
enzymes in the mitochondria are either missing or do not work
correctly.

Leigh Disease typically affects children between 3 months and 2
years of age. However, in some rare cases the onset of the disease
may be delayed until adolescence or adulthood. It occurs more
commonly in males than in females and the reason for this is not
known. Leigh Disease can affect people from all ethnic backgrounds.

Signs and symptoms:  Children with Leigh Disease may have the
following features (also commonly seen in children and adults with
other types of mitochondrial disease): feeding problems, loss of
appetite, vomiting, failure to thrive (a condition in which weight
gain and growth are far below normal), irritability/continuous
crying, delayed motor and language milestones, seizures, generalized
weakness, decreases muscle tone, tremor, problems with muscle
coordination, abnormal eye movements, droopy eyelids, vision
problems, respiratory and kidney problems (due to presence of lactic
acid in the blood), heart problems

Diagnosis: A diagnosis of Leigh Disease is made based on the
presence of the above described signs and symptoms, laboratory
testing and abnormal results on CT (computed tomography) or MRI
(magnetic resonance imaging) scans. These scans provide visual
images of structures inside the body. Scans of children with Leigh
Disease reveal the changes in the brain that occur as nerve cells
die. Genetic tests may be done to try and find the changes in the
genes associated with this disease.

Potential Causes: Leigh Disease is a problem of the mitochondria. It
is caused by defects in the enzymes of the mitochondrial electron
transport chain. The electron transport chain is responsible for
producing the energy our body needs to function properly. Two of the
enzymes that are most commonly involved with this disease are called
pyruvate dehydrogenase complex and cytochrome-c-oxidase. These
enzymes do not work correctly because they are made from genes that
carry a change (mutation). These changes can be inherited from the
child's parents or occur spontaneously only in the child.

There are 3 ways in which Leigh Disease is inherited: 1. X-linked
inheritance: Boys can inherit the disease from a mother who carries
a mutated gene. Girls may inherit the carrier status. Males have one
X and one Y chromosome and females have two X chromosomes. If males
have a gene with a change on their X chromosome they will have the
disease. If females have a gene with a change on their X chromosome
they have another copy of the gene on their other X chromosome that
is functioning normally and this will, "protect" them. 2. Autosomal
recessive inheritance: In this case, a child needs two genes with a
change to have the disease. Disease occurs when both parents have
one copy of a gene with a change and they both pass that gene to
their child. 3. Mutation of the Mitochondrial DNA: Mitochondria have
their own DNA and mitochondria come only from the mother. In this
case, if the mother is affected, all of her children are at risk of
inheriting the disease.

There is no cure for Leigh Disease, however there are treatment
options that can relieve some of the associated symptoms. The
treatment is limited and only partially effective. The most common
treatment is the administration of thiamine (a vitamin) and vitamin
B1. Certain changes in diet may be recommended. Sodium bicarbonate
and sodium citrate may be given to treat the lactic acidosis.
Sedatives and pain killers may also be prescribed to provide relief
from symptoms. Other drug treatments may be needed to treat the
seizures, movement problems, and cardiac complications.  The overall
outlook for children with Leigh Disease is poor, but a few patients
experience prolonged periods of remission.

NIH/NINDS Brain Resources and Information Network
http://www.ninds.nih.gov/health_and_medical/disorders/leighsdisease_d
oc.htm  This site contains information on Leigh Disease, and links
to other resources.

----- Original Message -----

From: Laura

To: Mito@yahoogroups.com

Sent: Thursday, December 01, 2005 9:15 PM

Subject: [Mito] Re: questions about CoQ10 testing

--- In Mito@yahoogroups.com, "iluvdizney2" <iluvdizney2@a...> wrote:
>
> actually we had Dr Korson draw the labs and sent them off to Cincinnati. We were told that
is the most reliable place to have them worked on. The results are the most accurate.
> Just some information that we were given.
>
You mean Cleveland, right? They don't do testing for very long chain fatty acids tho. I know
of people who have discovered problems with them but Cleveland never tested for them.

Laura

Developmentally Brandon isnt doing too bad... his motor skills are
mildly delayed (he has AWFUL balance, and fine motor isnt great as
he gets tremors quite often) but not too crazy.
Receptive language is mildly delayed but generally he understands
everything we tell him.
Spoken language he is profoundly delayed.  he has 2 words (mom and
go) beyond that he babbles at the age level of a 6 month old.  His
sign vocabulary is quite extensive though, and he has over 150 signs
so far...  our neurologist is still quite hopeful that he will
develop spoken language in the future, so were hoping too! :)
Feel free to ask questions! I find it facinating that our boys are
soo similar...  did you notice any similaritys in the photograph?  I
wouldnt mind seeing a picture of your son if you dont mind...
Keely


--- In Mito@yahoogroups.com, ANGELA SoontobeGochnour
<angieandclinton@y...> wrote:
>
> Hi Keely,
>       I wanted to ask you a few more questions since our kids are
so close in age.  What all developmentally is Brandon doing?  Where
are the areas he's lacking most?  I'm just curious if they really
line up, maybe to be a reassurance that it'll be ok that riley is
delayed and just for curiosity's sake.  Thanks...  Angie
>
> ilikemonstertrucks <tig_ger51@h...> wrote:
>   Heres a link to a photo of Brandon...  :)
>
> Its interesting that you mentioned the crooked bum crack (lol)
Brandon
> has one but nobody has ever mentioned it... we always laughed
about
> it, and never thought much beyond it being a silly feature...
>
> http://img.photobucket.com/albums/v11/BrandonMatthew/backa.jpg
>
> this ones a little more recent
>
> http://img.photobucket.com/albums/v11/BrandonMatthew/b1.jpg
>
>
> Keely
>
>
>
>
>
>
> Please contact mito-owner@yahoogroups.com with any problems or
questions.
>
>
>
>   SPONSORED LINKS
>         Health and wellness   Health wellness product   Health and
wellness program     Diet fitness health nutrition wellness   Health
promotion and wellness   Business health wellness
>
> ---------------------------------
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>
>
>     Visit your group "Mito" on the web.
>
>     To unsubscribe from this group, send an email to:
>  Mito-unsubscribe@yahoogroups.com
>
>     Your use of Yahoo! Groups is subject to the Yahoo! Terms of
Service.
>
>
> ---------------------------------
>
>
>
>
>
>
> ---------------------------------
>  Yahoo! Personals
>  Single? There's someone we'd like you to meet.
>  Lots of someones, actually. Yahoo! Personals
>

LOL  sorry I should have been more specific!  I have heard of
unconfirmed mito, I was wondering about the Carnosine, Omega 3 fish
oils and DMG that CJ Dir reccomended...  I havent heard of them used
for ataxia and was wondering what they are...
Keely

--- In Mito@yahoogroups.com, "angieandclinton"
<angieandclinton@y...> wrote:
>
> Unconfirmed mito diagnosis just means that all like 40 specialists
> he's seen in his life say he has mito, but after a muscle and skin
> biopsy and every test they could think to do they still have no
> definate answer that mito is the cause... its just the only real
> possibility according to all of the Dr's. He's been seen at Cook
> Childrens in Fort Worth Texas, Boston Childrens and Pittsburgh
> Childrens and they can't figure it out.  So they just call it
> unconfirmed or suspected.
>
> --- In Mito@yahoogroups.com, "ilikemonstertrucks" <tig_ger51@h...>
> wrote:
> >
> > Ive never even heard of these...  do you have any info?
> > thanks,
> > Keely
> >
> >
> > --- In Mito@yahoogroups.com, "Cj Dir" <gstone98@t...> wrote:
> > >
> > > Hi Keely:
> > >  Have you tried Carnosine, Omega 3 fish oils and DMG for
apraxia?
> > >   ----- Original Message -----
> > >   From: ilikemonstertrucks
> > >   To: Mito@yahoogroups.com
> > >   Sent: Wednesday, November 30, 2005 5:37 PM
> > >   Subject: [Mito] Re: Unconfirmed Mito diagnosis
> > >
> > >
> > >   Aside from the heart problems you just described my son.
> > >   Brandon will be 3 on Monday.
> > >   He has a heart murmer, but so far his heart is generally
> > healthy.
> > >
> > >   He doesnt talk, signs very well though, and understands
> > >   EVERYTHING...  Hes been in therapy for over a year and has
> made
> > very
> > >   very little progress.
> > >
> > >   He can walk and run also but is terribly uncoordinated and
> > >   stumbles/falls alot.  its termed ataxia.
> > >
> > >   the conclusion at this point is he has ataxia of his legs
and
> > >   mouth... apparently it can affect the mouth muscles, making
it
> > very
> > >   hard to talk and control the mouth, but understanding stays
> age
> > >   appropriate.
> > >
> > >   he is also small, (38 inches, 29 lbs).
> > >
> > >   Has your son had a muscle biopsy?
> > >   what is pointing them to mito?
> > >
> > >   How long was he on the cocktail?
> > >
> > >   Brandon started the cocktail in January, and we seriously
only
> > >   started seeing improvements after 5 months...  since then
they
> > have
> > >   been steady...  it might be worth it to keep him on
them...
> > >
> > >   Keely
> > >
> > >
> > >
> > >
> > >   --- In Mito@yahoogroups.com, "angieandclinton"
> > >   <angieandclinton@y...> wrote:
> > >   >
> > >   > I was wondering if anyone could maybe help me feel a
little
> > better
> > >   > about my son's condition.  He is almost 3 years old.  He
got
> > very
> > >   > sick at 5 weeks and has since been diagnosed with Dilated
> > >   > Cardiomyopathy with non compaction of the left vent *he's
on
> > >   Vasotec)
> > >   > he had seizures until he was one, he has delayed
> myelination,
> > is
> > >   > very small for his age (35 inches tall and 25 lbs), and he
> is
> > also
> > >   > very delayed.  He walks and runs though he's a little
> > >   uncoordinated,
> > >   > but he doesn't speak.  He has therapy, but it doesn't
work.
> > He
> > >   > signs and shakes his head, but won't say a word.  His
heart
> > isn't
> > >   > doing well, his shortening fraction was only 17 percent
last
> > time
> > >   he
> > >   > was at the Cardio dr.  He was on a mito cocktail, but I
gave
> > up on
> > >   > it bc it didn't seem to do a thing, and he was never
> actually
> > >   > diagnosed with having a mito disease.  I guess what I'm
> > getting at
> > >   > is I feel really guilty that he's sick and I can't do
> anything
> > >   about
> > >   > it, and I feel like I've run in circles for so long that
> I've
> > just
> > >   > kind of given up in regard to figuring it all out.  Until
he
> > was 2
> > >   > he had 18 or so Dr appts a month at Boston Children's and
I
> > don't
> > >   > know where to go from here.  He's had every test they
could
> > think
> > >   to
> > >   > do done, and we've been at a stand still.  Does anyone
have
> > any
> > >   > ideas on what it may be... or anything that can help me
get
> > over
> > >   my
> > >   > child being sick and not being like all the other kids his
> > age...
> > >   > that I don't know if he'll get to grow up.  I'm a young
> single
> > >   > mother and just need some words of encouragement about all
> of
> > it.
> > >   > Maybe someone can help me out...
> > >   >
> > >
> > >
> > >
> > >
> > >
> > >
> > >
> > >   Please contact mito-owner@yahoogroups.com with any problems
or
> > questions.
> > >   Yahoo! Groups Links
> > >
> >
>

--- In Mito@yahoogroups.com, "iluvdizney2" <iluvdizney2@a...> wrote:
>
> actually we had Dr Korson draw the labs and sent them off to Cincinnati. We
were told that
is the most reliable place to have them worked on. The results are the most
accurate.
> Just some information that we were given.
>
You mean Cleveland, right? They don't do testing for very long chain fatty acids
tho. I know
of people who have discovered problems with them but Cleveland never tested for
them.

Laura

Heres a link to a photo of Brandon...  :)

Its interesting that you mentioned the crooked bum crack (lol) Brandon
has one but nobody has ever mentioned it... we always laughed about
it, and never thought much beyond it being a silly feature... 

http://img.photobucket.com/albums/v11/BrandonMatthew/backa.jpg

this ones a little more recent

http://img.photobucket.com/albums/v11/BrandonMatthew/b1.jpg


Keely 

Unconfirmed mito diagnosis just means that all like 40 specialists
he's seen in his life say he has mito, but after a muscle and skin
biopsy and every test they could think to do they still have no
definate answer that mito is the cause... its just the only real
possibility according to all of the Dr's. He's been seen at Cook
Childrens in Fort Worth Texas, Boston Childrens and Pittsburgh
Childrens and they can't figure it out.  So they just call it
unconfirmed or suspected.

--- In Mito@yahoogroups.com, "ilikemonstertrucks" <tig_ger51@h...>
wrote:
>
> Ive never even heard of these...  do you have any info?
> thanks,
> Keely
>
>
> --- In Mito@yahoogroups.com, "Cj Dir" <gstone98@t...> wrote:
> >
> > Hi Keely:
> >  Have you tried Carnosine, Omega 3 fish oils and DMG for apraxia?
> >   ----- Original Message -----
> >   From: ilikemonstertrucks
> >   To: Mito@yahoogroups.com
> >   Sent: Wednesday, November 30, 2005 5:37 PM
> >   Subject: [Mito] Re: Unconfirmed Mito diagnosis
> >
> >
> >   Aside from the heart problems you just described my son.
> >   Brandon will be 3 on Monday.
> >   He has a heart murmer, but so far his heart is generally
> healthy.
> >
> >   He doesnt talk, signs very well though, and understands
> >   EVERYTHING...  Hes been in therapy for over a year and has
made
> very
> >   very little progress.
> >
> >   He can walk and run also but is terribly uncoordinated and
> >   stumbles/falls alot.  its termed ataxia.
> >
> >   the conclusion at this point is he has ataxia of his legs and
> >   mouth... apparently it can affect the mouth muscles, making it
> very
> >   hard to talk and control the mouth, but understanding stays
age
> >   appropriate.
> >
> >   he is also small, (38 inches, 29 lbs).
> >
> >   Has your son had a muscle biopsy?
> >   what is pointing them to mito?
> >
> >   How long was he on the cocktail?
> >
> >   Brandon started the cocktail in January, and we seriously only
> >   started seeing improvements after 5 months...  since then they
> have
> >   been steady...  it might be worth it to keep him on them...
> >
> >   Keely
> >
> >
> >
> >
> >   --- In Mito@yahoogroups.com, "angieandclinton"
> >   <angieandclinton@y...> wrote:
> >   >
> >   > I was wondering if anyone could maybe help me feel a little
> better
> >   > about my son's condition.  He is almost 3 years old.  He got
> very
> >   > sick at 5 weeks and has since been diagnosed with Dilated
> >   > Cardiomyopathy with non compaction of the left vent *he's on
> >   Vasotec)
> >   > he had seizures until he was one, he has delayed
myelination,
> is
> >   > very small for his age (35 inches tall and 25 lbs), and he
is
> also
> >   > very delayed.  He walks and runs though he's a little
> >   uncoordinated,
> >   > but he doesn't speak.  He has therapy, but it doesn't work.
> He
> >   > signs and shakes his head, but won't say a word.  His heart
> isn't
> >   > doing well, his shortening fraction was only 17 percent last
> time
> >   he
> >   > was at the Cardio dr.  He was on a mito cocktail, but I gave
> up on
> >   > it bc it didn't seem to do a thing, and he was never
actually
> >   > diagnosed with having a mito disease.  I guess what I'm
> getting at
> >   > is I feel really guilty that he's sick and I can't do
anything
> >   about
> >   > it, and I feel like I've run in circles for so long that
I've
> just
> >   > kind of given up in regard to figuring it all out.  Until he
> was 2
> >   > he had 18 or so Dr appts a month at Boston Children's and I
> don't
> >   > know where to go from here.  He's had every test they could
> think
> >   to
> >   > do done, and we've been at a stand still.  Does anyone have
> any
> >   > ideas on what it may be... or anything that can help me get
> over
> >   my
> >   > child being sick and not being like all the other kids his
> age...
> >   > that I don't know if he'll get to grow up.  I'm a young
single
> >   > mother and just need some words of encouragement about all
of
> it.
> >   > Maybe someone can help me out...
> >   >
> >
> >
> >
> >
> >
> >
> >
> >   Please contact mito-owner@yahoogroups.com with any problems or
> questions.
> >   Yahoo! Groups Links
> >
>

Ive never even heard of these...  do you have any info?
thanks,
Keely


--- In Mito@yahoogroups.com, "Cj Dir" <gstone98@t...> wrote:
>
> Hi Keely:
>  Have you tried Carnosine, Omega 3 fish oils and DMG for apraxia?
>   ----- Original Message -----
>   From: ilikemonstertrucks
>   To: Mito@yahoogroups.com
>   Sent: Wednesday, November 30, 2005 5:37 PM
>   Subject: [Mito] Re: Unconfirmed Mito diagnosis
>
>
>   Aside from the heart problems you just described my son.
>   Brandon will be 3 on Monday.
>   He has a heart murmer, but so far his heart is generally
healthy.
>
>   He doesnt talk, signs very well though, and understands
>   EVERYTHING...  Hes been in therapy for over a year and has made
very
>   very little progress.
>
>   He can walk and run also but is terribly uncoordinated and
>   stumbles/falls alot.  its termed ataxia.
>
>   the conclusion at this point is he has ataxia of his legs and
>   mouth... apparently it can affect the mouth muscles, making it
very
>   hard to talk and control the mouth, but understanding stays age
>   appropriate.
>
>   he is also small, (38 inches, 29 lbs).
>
>   Has your son had a muscle biopsy?
>   what is pointing them to mito?
>
>   How long was he on the cocktail?
>
>   Brandon started the cocktail in January, and we seriously only
>   started seeing improvements after 5 months...  since then they
have
>   been steady...  it might be worth it to keep him on them...
>
>   Keely
>
>
>
>
>   --- In Mito@yahoogroups.com, "angieandclinton"
>   <angieandclinton@y...> wrote:
>   >
>   > I was wondering if anyone could maybe help me feel a little
better
>   > about my son's condition.  He is almost 3 years old.  He got
very
>   > sick at 5 weeks and has since been diagnosed with Dilated
>   > Cardiomyopathy with non compaction of the left vent *he's on
>   Vasotec)
>   > he had seizures until he was one, he has delayed myelination,
is
>   > very small for his age (35 inches tall and 25 lbs), and he is
also
>   > very delayed.  He walks and runs though he's a little
>   uncoordinated,
>   > but he doesn't speak.  He has therapy, but it doesn't work.
He
>   > signs and shakes his head, but won't say a word.  His heart
isn't
>   > doing well, his shortening fraction was only 17 percent last
time
>   he
>   > was at the Cardio dr.  He was on a mito cocktail, but I gave
up on
>   > it bc it didn't seem to do a thing, and he was never actually
>   > diagnosed with having a mito disease.  I guess what I'm
getting at
>   > is I feel really guilty that he's sick and I can't do anything
>   about
>   > it, and I feel like I've run in circles for so long that I've
just
>   > kind of given up in regard to figuring it all out.  Until he
was 2
>   > he had 18 or so Dr appts a month at Boston Children's and I
don't
>   > know where to go from here.  He's had every test they could
think
>   to
>   > do done, and we've been at a stand still.  Does anyone have
any
>   > ideas on what it may be... or anything that can help me get
over
>   my
>   > child being sick and not being like all the other kids his
age...
>   > that I don't know if he'll get to grow up.  I'm a young single
>   > mother and just need some words of encouragement about all of
it.
>   > Maybe someone can help me out...
>   >
>
>
>
>
>
>
>
>   Please contact mito-owner@yahoogroups.com with any problems or
questions.
>   Yahoo! Groups Links
>

Heres a link to a photo of Brandon...  :)

Its interesting that you mentioned the crooked bum crack (lol) Brandon
has one but nobody has ever mentioned it... we always laughed about
it, and never thought much beyond it being a silly feature...

http://img.photobucket.com/albums/v11/BrandonMatthew/backa.jpg

this ones a little more recent

http://img.photobucket.com/albums/v11/BrandonMatthew/b1.jpg


Keely

Hi all,

We are struggling to get enough calories into Asher without making him
wear his pump all the time. I'd like to know what you all do?

Asher needs about 1250 mls of Peptamen Jr a day and, when I increase it
over 80 mls, he complains that he's getting too full (even 80 is
stretching it). If I run it at 80 over night, he still has residuals in
the morning and I need to let his stomach 'rest' for a while. I love
his new portable pump but it seems that when he wears his backpack that
he is less active and seems less mobile - it just restricts him. So, I
feel like we're caught between a rock and a hard place.... Do I make
him wear the backpack pump for most of the daylight hours and also feed
him at night/ but then he is less active? Or do I just try to set it at
a higher rate and get more in him at one time - but then have him take
the pump off and run around?

Also, what do you do in terms of wearing it to school? Do the teachers
know how to turn it on and off if the alarm goes off? Do you teach them
how to reconnect the tube to his mic-key button? What do you do about
your child not getting the tube caught on something? I'm afraid it will
pull and hurt him or pull and come off and spill all over him and the
classroom.

Asher's not in a wheelchair and he is just as mobile as a 'regular' 4
year old boy, although he's a bit more hesitant on the playground. I
just don't know what to do.

Any ideas?
Anne R
www.caringbridge.org/fl/asher

----- Original Message -----

From: madamebbq

To: Mito@yahoogroups.com

Sent: Thursday, December 01, 2005 7:45 AM

Subject: [Mito] coping

hello all,
my soon to be 12 year old zoe (and most probably her identical twin
daphne) was recently diagnosed with pyruvate dehydrogenase complex
deficiency. so far all is well except for muscle weakness and little
things. it seems that evreything i read about the disorder is very
negative and i am at a loss as to what i should be feeling. am i
supposed to worrry about the future or would that be a waste of time?
am i gonna lose her someday? i am so confused.

hello all,
my soon to be 12 year old zoe (and most probably her identical twin
daphne) was recently diagnosed with pyruvate dehydrogenase complex
deficiency. so far all is well except for muscle weakness and little
things. it seems that evreything i read about the disorder is very
negative and i am at a loss as to what i should be feeling. am i
supposed to worrry about the future or would that be a waste of time?
am i gonna lose her someday? i am so confused.

----- Original Message -----

From: Kim Smith

To: Mito@yahoogroups.com

Sent: Thursday, December 01, 2005 1:53 AM

Subject: Re: [Mito] Rant Rant Rant

Donna,

  LOL,,,anything I can do,,to make you laugh :) I can't believe our bad luck,in animals. We had a golden retriever that was as close to an autistic dog as I've ever seen,,,then we had another one that was a psycopath (she killed Ethan's kitten),,and now we have the deaf dog. I think I should just give up !!

 

http://www.caringbridge.org/visit/loganandethansmith

Kim mom to Meaghan 16 ~~Katelyn 13 Bipolar,and OCD ~~ Logan 8 Mitochondrial myopathy Complex II and IV, Autism,and JRA ~~ and Ethan 6,,Severe dyslexia,ADHD,CAPD,and possible mitochondrial encephalomyopathy

 

---

Yahoo! Music Unlimited - Access over 1 million songs. Try it free.

 Hello all I was wondering if any of you have faced increasing seizure activity and several "signs" of brain damage and yet Grace had a normal EEG and MRI. She started last Jan. having a seizure about once a month and now we are at 2or 3 a week. She also has Hypotonia, abnormal reflexes and uneven pupil dialation. The ped, neuro and geneticist all think that mito is where we are going with this. I just thought that with these symptoms we would be seeing something? 

Heather
dd7 precocious puberty, hypertonic legs and clonus   ds5 asperger's, hypotonia, seizures, sensory intergration dysfunction, joint laxity, abnormal reflexes and clonus  dd2 autism, joint laxity, hypotonia, abnormal reflexes, seizures, Gi problems and failure to thrive  dd 9months  delayed language and social, stridor, larynomalacia and or trachelomalacia

---

Yahoo! Music Unlimited - Access over 1 million songs. Try it free.

Karen, Ryan 16 asthma non-mito, Justin 7 mito cytopathy

www.caringbridge.org/wa/love4justin

----- Original Message -----

From: Chris Laurie

To: Mito@yahoogroups.com

Sent: Thursday, December 01, 2005 2:54 PM

Subject: Re: [Mito] Long QT Syndrome Heather

Wow that floors me thanks for the info. I was in the US NAvy having syncopal episodes. That was why the EKG's were being done. I kept passing out for nine years and then suddenly stopped.  Until my children started to show odd neuro signs the dr's all said "Welll...hmmm that was strange glad it's over."  I think that I might want to talk this over with my dr next time I'm in.

Heather and herd

---

Yahoo! Music Unlimited - Access over 1 million songs. Try it free.

Im so lost...
Tyler and I both had bloodwork done a week ago (Brandon my other son
has Complex 1).  Tylers CK is elevated again (Brandons first sign) and
my tests werent normal... they havent totally determined what not
normal means, but their repeating everything in both of us...  

I have a strong suspicion we both have it.  my health problems
(autonomic failure, heart issues, kidney issues, hearing issues,
stroke like liesons, eye probs, the list goes on) are too much of a
coincidence to be unrelated to Brandons disorder, and Tylers bloodwork
also seems quite a coincidence... 

**sigh**

I just wish there was an easy fast way to get these answers.

Keely

Karen, Ryan 16 asthma non-mito, Justin 7 mito cytopathy

www.caringbridge.org/wa/love4justin