For donna regarding dalton

[Guest guest]

What came up on Daltons labs?? What have they said about the delay in

progression or showing up so late.. any ideas???

O

Re: Introductions- from Suzanne in AZ

HI Suzanne,

I am experiencing something very similar, or so it sounds, with my

supposedly " healthy " and " normal " child.

My son Craig is 8 years old and has unspecified mito. We went

through all the doctors appts. and assurances that nothing was wrong

as well until it got bad enough for everyone to notice (and until we

captured seizures on video).

My son Dalton is 6 years old and has always done extremely well

developmentally. He started having severe fatigue, however, and

then other symptoms, like muscle cramping and pain, overheating, and

falling for no apparent reason, last year. His labs came back

somewhat abnormal, more abnormal than Craig's ever have, but the

local neurologist felt his " soft signs " were not enough for

diagnosis. She agreed to put him on Carnitor at my request, though,

and his fatigue went away almost completely. We had already started

him on CoQ10 as well.

People who don't understand mito think I should be happy that the

Carnitor is helping, and Dalton is doing so well. I see it as a very

bad sign that Craig's medicine is working for Dalton as well.

I try to take each day as it comes, though, and not wonder about the

future so much. That's the mito parent's constant struggle, isn't

it?

Thanks for sharing your story. Nice to " meet " you. I am hoping to

make it to St. Louis as well.

Donna H.

> I think this is a great idea. I get confused sometime, trying to

remember

> who is who. Hopefully I will meet some of you in St. Louis . I

look forward

> to it.

>

>

>

> So, I am new to all this, about a year. My story with Zoe my

almost 3 year

> old, is the similar, vague consistant, I know something is wrong

song!!

>

> She was delivered a bit early by c-section, fussy baby, not a lot

of

> sleeping, lots of crying, unexplained fevers. Peds saying it was

all normal,

> big sister bringing home ear infections etc. etc.. croup etc. I

got very

> aggressive at about 9-15mos, when her strabismus showed up and her

head

> growth accelerated.Had to do my own specialist referrals, private

therapies

> etc. Found no answers, became obsessed and took her to the Clev.

Clinic.

> Through the grace of God, we ended up with Cohen reading her

files. Turned

> out her brain MRI was misread as normal. The history and labs and

MRI - all

> pointed to mito. He took her as a patient and began testing. His

diagnosis

> is suspected complex 1. She currently is learning to use forearm

crutches,

> but almost 50 percent of her cerebellum is missing, she has

malformations in

> her left frontal lobe and myelin damage- but no documented

seizures yet.

> Perhaps a suggestion of demyelination- but nobody wants to talk

about that(

> any help on this would be great) .She gets infections easily and

crashes

> hard, lots of quick hospital visits last year, but none yet for

2005. She

> has about 50 verbal word approximations now, 100 plus signs,

hypotonia

> throughout her body including orally, flat feet, heat sensitivity,

frequent

> sweating, feeding problems ( prefers to drink milk through the

night vs.

> solid foods) and technically has an MMR diagnosis, however she has

complete

> cognitive abilities as to all that is going on around her. She

uses a

> reverse walker and due to the cerebellar issue has very poor

balance

> reactions. She seems to seek stimulation and cannot fall asleep by

herself

> at night. She is ( thank god) an affectionate, sweet, outgoing

happy kid.

>

>

>

> Her big sister Olivia, almost 4 , has been complaining of lots of

fatigue

> over the last 6 mos. Has these nasty alter ego meltdowns when

tired that

> frankly seem metabolically based, food helps and her normal

behavior returns

> almost immediately. She has had tons of croup, pneumonia and

viruses but

> developmentally is perfect , advanced and growth wise is fine. Due

to the

> fatigue thing ( you can only do toughlove for so long when you

have one mito

> kid) I had her labs done at our local lame lab. COQ10 came in

abnormally low

> with the lab summary of " breakdown in the metabolic pathways,

specifically

> mitochondrial disfunction.

>

> Her croup has recently progressed to cough variant asthma, and she

too gets

> the bruising on her legs. We are getting ready to repeat her labs

at the

> Clev. Clinic , but I would love any input from parents on this kid

and what

> I have named. ( Brutal honesty is fine with me!!!)

>

>

>

> I have been married to the love of my life for 5 years, he is 54

and I am

> 37, we wanted to have more kids, but wont try anymore- sigh. we

have our

> hands full!! He is a great dad- but works long hours at his

business during

> the day. Due to the age difference, we worry about our future, the

girls

> health etc. etc. I am sure you all understand that one!

>

>

>

> I work from home, I publish an embroidery magazine and it is really

> challenging these days with no sleep, 7 therapy appts a week and

at least

> one doctor appt.. but I am surviving. I try to make a difference

where I can

> and believe I am. I started a parent support group for parents of

delayed

> kids- to share resources working toward diagnosis- and that is

going well. I

> turned it over to my girlfriend who helped start it when I

recently took

> over the AZ Chapter UMDF President role. Lots of work there too,

but for a

> great cause.

>

>

>

> You can see pics of my kids on my blog www.specialneedsmom.com

> <http://www.specialneedsmom.com/> and if you scroll down to

footstep entry

> there is a mothers instinct story of our search for a diagnosis.

Oh and for

> a bit of fun, I like to read, write, and appreciate good food ,

wine and

> quiet time at home.

>

>

>

> Sorry this is so long!! Take care- Suzanne in AZ

Please contact mito-owner with any problems or questions.

[Guest guest]

I forgot to mention that Dalton also has had lots of bouts with

sickness and problems with allergies and asthma. I particularly

relate to the meltdowns when tired. Dalton cries when he is tired.

He seems to wilt and break down emotionally. I have always thought

it was more than just a normal childhood thing.

Dalton's labs showed high lactate (but there may have been some

errors in processing all 3 times that we did it!) and a " relatively

high alanine ratio relative to amino acids " which is " suggestive of

a primary or secondary disorder of pyruvate metabolism. " Dr. Cohen

recommended that the local neurologist repeat the tests. Since

Dalton looked so good to her she did not want to pursue anything

until he shows more symptoms though. I am SO GLAD she did agree to

try the Carnitor though. He has been so much better, that I haven't

pushed for more testing yet.

I see the Carnitor and cocktail as a preventative measure, holding

off the disease process as long as we can. The sooner treatment

starts the better. Craig lost so much ground before we knew what

was wrong, and started treating it. I wasn't going to let that

happen with Dalton too.

The UMDF " motto " is " any disease, any organ, any age " right? (or

something like that). I don't want to scare you, but you

said " brutal honesty " was ok. I read a story of a teenager who

never had any problems, except some difficulty keeping up with the

other kids in sports, who started having seizures and breaking down

neurologically and died within a couple years. It made me realize

how possible it is that Dalton has mito that just hasn't shown up as

much as Craig's yet. I think most doctors don't understand this

about mito. They are only familiar with the " classic " mito picture

(if there is such a thing!). When I mentioned mito to Dalton's

gastroenterologist (he has had reflux too since a baby) he said

something about it only happening in babies. Dr. Cohen, however,

immediately jumped on our concerns and ran tests, even though Dalton

was with me for Craig's appt. and didn't have an appt. himself. He

also asked me at Craig's very first visit if Craig had any siblings

and how they were doing. He took my mention of " just fatigue " , the

first time we met seriously enough to include in his report of the

appt.

I hope this helps some. I wish I could say, " Oh, it's probably just

nothing. " I sure hope it is! I hope I am all wrong about what's

going on in Dalton, of course. That's what people who don't know

this disease think. My husband is the only one who really sees and

knows why I am realistically concerned about him.

Donna H.

Mito , " Embroidery Journal " <suzanne@e...> wrote:

> What came up on Daltons labs?? What have they said about the delay

in

> progression or showing up so late.. any ideas???

>

> O

>

>

> Re: Introductions- from Suzanne in AZ

>

>

>

> HI Suzanne,

>

> I am experiencing something very similar, or so it sounds, with my

> supposedly " healthy " and " normal " child.

>

> My son Craig is 8 years old and has unspecified mito. We went

> through all the doctors appts. and assurances that nothing was

wrong

> as well until it got bad enough for everyone to notice (and until

we

> captured seizures on video).

>

> My son Dalton is 6 years old and has always done extremely well

> developmentally. He started having severe fatigue, however, and

> then other symptoms, like muscle cramping and pain, overheating,

and

> falling for no apparent reason, last year. His labs came back

> somewhat abnormal, more abnormal than Craig's ever have, but the

> local neurologist felt his " soft signs " were not enough for

> diagnosis. She agreed to put him on Carnitor at my request,

though,

> and his fatigue went away almost completely. We had already

started

> him on CoQ10 as well.

>

> People who don't understand mito think I should be happy that the

> Carnitor is helping, and Dalton is doing so well. I see it as a

very

> bad sign that Craig's medicine is working for Dalton as well.

>

> I try to take each day as it comes, though, and not wonder about

the

> future so much. That's the mito parent's constant struggle, isn't

> it?

>

> Thanks for sharing your story. Nice to " meet " you. I am hoping

to

> make it to St. Louis as well.

>

> Donna H.

>

>

> > I think this is a great idea. I get confused sometime, trying to

> remember

> > who is who. Hopefully I will meet some of you in St. Louis . I

> look forward

> > to it.

> >

> >

> >

> > So, I am new to all this, about a year. My story with Zoe my

> almost 3 year

> > old, is the similar, vague consistant, I know something is wrong

> song!!

> >

> > She was delivered a bit early by c-section, fussy baby, not a

lot

> of

> > sleeping, lots of crying, unexplained fevers. Peds saying it was

> all normal,

> > big sister bringing home ear infections etc. etc.. croup etc. I

> got very

> > aggressive at about 9-15mos, when her strabismus showed up and

her

> head

> > growth accelerated.Had to do my own specialist referrals,

private

> therapies

> > etc. Found no answers, became obsessed and took her to the Clev.

> Clinic.

> > Through the grace of God, we ended up with Cohen reading her

> files. Turned

> > out her brain MRI was misread as normal. The history and labs

and

> MRI - all

> > pointed to mito. He took her as a patient and began testing. His

> diagnosis

> > is suspected complex 1. She currently is learning to use forearm

> crutches,

> > but almost 50 percent of her cerebellum is missing, she has

> malformations in

> > her left frontal lobe and myelin damage- but no documented

> seizures yet.

> > Perhaps a suggestion of demyelination- but nobody wants to talk

> about that(

> > any help on this would be great) .She gets infections easily and

> crashes

> > hard, lots of quick hospital visits last year, but none yet for

> 2005. She

> > has about 50 verbal word approximations now, 100 plus signs,

> hypotonia

> > throughout her body including orally, flat feet, heat

sensitivity,

> frequent

> > sweating, feeding problems ( prefers to drink milk through the

> night vs.

> > solid foods) and technically has an MMR diagnosis, however she

has

> complete

> > cognitive abilities as to all that is going on around her. She

> uses a

> > reverse walker and due to the cerebellar issue has very poor

> balance

> > reactions. She seems to seek stimulation and cannot fall asleep

by

> herself

> > at night. She is ( thank god) an affectionate, sweet, outgoing

> happy kid.

> >

> >

> >

> > Her big sister Olivia, almost 4 , has been complaining of lots

of

> fatigue

> > over the last 6 mos. Has these nasty alter ego meltdowns when

> tired that

> > frankly seem metabolically based, food helps and her normal

> behavior returns

> > almost immediately. She has had tons of croup, pneumonia and

> viruses but

> > developmentally is perfect , advanced and growth wise is fine.

Due

> to the

> > fatigue thing ( you can only do toughlove for so long when you

> have one mito

> > kid) I had her labs done at our local lame lab. COQ10 came in

> abnormally low

> > with the lab summary of " breakdown in the metabolic pathways,

> specifically

> > mitochondrial disfunction.

> >

> > Her croup has recently progressed to cough variant asthma, and

she

> too gets

> > the bruising on her legs. We are getting ready to repeat her

labs

> at the

> > Clev. Clinic , but I would love any input from parents on this

kid

> and what

> > I have named. ( Brutal honesty is fine with me!!!)

> >

> >

> >

> > I have been married to the love of my life for 5 years, he is 54

> and I am

> > 37, we wanted to have more kids, but wont try anymore- sigh. we

> have our

> > hands full!! He is a great dad- but works long hours at his

> business during

> > the day. Due to the age difference, we worry about our future,

the

> girls

> > health etc. etc. I am sure you all understand that one!

> >

> >

> >

> > I work from home, I publish an embroidery magazine and it is

really

> > challenging these days with no sleep, 7 therapy appts a week and

> at least

> > one doctor appt.. but I am surviving. I try to make a difference

> where I can

> > and believe I am. I started a parent support group for parents

of

> delayed

> > kids- to share resources working toward diagnosis- and that is

> going well. I

> > turned it over to my girlfriend who helped start it when I

> recently took

> > over the AZ Chapter UMDF President role. Lots of work there too,

> but for a

> > great cause.

> >

> >

> >

> > You can see pics of my kids on my blog www.specialneedsmom.com

> > <http://www.specialneedsmom.com/> and if you scroll down to

> footstep entry

> > there is a mothers instinct story of our search for a diagnosis.

> Oh and for

> > a bit of fun, I like to read, write, and appreciate good food ,

> wine and

> > quiet time at home.

> >

> >

> >

> > Sorry this is so long!! Take care- Suzanne in AZ

>

>

>

>

>

>

> Please contact mito-owner with any problems or

questions.

>