Introductions- from Suzanne in AZ

[Guest guest]

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 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

[Guest guest]

Suzanne,

Thank you for sharing the site! I love it, you did a wonderful job. I really liked the footsteps entry, but what really

got me was Dear Little One, Things are not always what they seem. It made me cry, not tears of pity, but tears of

living every word of the story. I've been very quiet lately, I had to tell you what an amazing job you've done though.

Lois

Introductions- from Suzanne in AZ

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 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]

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