Re: 's Story

[Guest guest]

In a message dated 9/21/99 2:52:43 PM Pacific Daylight Time,

marilou@... writes:

<< I'm not nearly as poetic

as Kennedy's dad - >>

I don't know Lou. I would say you told that story quite well. Thank you

so much for sharing s story.

in PA (Karly 3, 9, Kate 6)

[Guest guest]

In a message dated 9/21/99 2:52:43 PM Pacific Daylight Time,

marilou@... writes:

<< I'm not nearly as poetic

as Kennedy's dad - >>

I don't know Lou. I would say you told that story quite well. Thank you

so much for sharing s story.

in PA (Karly 3, 9, Kate 6)

[Guest guest]

Hi, Lou -

My son has the same diagnosis--Complex I and I+III. (Though I have just

been calling it Complex I and III defects . . .is there a difference? Maybe

not, the report from Shoffner and Krawieki says both. Must be

interchangeable.) His story is not exactly the same, but I do hope to

continue evolving in my attitudes towards his illness as you have obviously

done with 's.

Thank you for sharing your story. I think it is a perfectly acceptable post,

and the length was appreciated. I am interested in hearing your ideas and

perspectives. Thanks for taking the risk!

Kathy

mom to (nda) and (Complex I and III defects or maybe I and I+III)

[Guest guest]

Hi, Lou -

My son has the same diagnosis--Complex I and I+III. (Though I have just

been calling it Complex I and III defects . . .is there a difference? Maybe

not, the report from Shoffner and Krawieki says both. Must be

interchangeable.) His story is not exactly the same, but I do hope to

continue evolving in my attitudes towards his illness as you have obviously

done with 's.

Thank you for sharing your story. I think it is a perfectly acceptable post,

and the length was appreciated. I am interested in hearing your ideas and

perspectives. Thanks for taking the risk!

Kathy

mom to (nda) and (Complex I and III defects or maybe I and I+III)

[Guest guest]

Dear Lou,

What a wonderful story! I've read it twice now, mostly with my own daughter

on my lap, giving her hugs and thinking of our own " what ifs " .......

Thank you for sharing, and please don't stay off the list. It seems you have

much to share.

ruth

[Guest guest]

Dear Lou,

What a wonderful story! I've read it twice now, mostly with my own daughter

on my lap, giving her hugs and thinking of our own " what ifs " .......

Thank you for sharing, and please don't stay off the list. It seems you have

much to share.

ruth

[Guest guest]

Dear Lou,

What a wonderful story! I've read it twice now, mostly with my own daughter

on my lap, giving her hugs and thinking of our own " what ifs " .......

Thank you for sharing, and please don't stay off the list. It seems you have

much to share.

ruth

[Guest guest]

Lou,

Thanks for sharing your family's story---it warmed my heart to read such an

emotionally honest account of your lives,

and Complex I-II

[Guest guest]

Lou,

Thanks for sharing your family's story---it warmed my heart to read such an

emotionally honest account of your lives,

and Complex I-II

[Guest guest]

Lou,

Thanks for sharing your family's story---it warmed my heart to read such an

emotionally honest account of your lives,

and Complex I-II

[Guest guest]

Lou,

Thank you for sharing such a beautiful story. It brought back many memories

with my middle daughter. She is 22 and just recently married. Although not

diagnosed as a child with mito(although now is suspected), much of her life

was a roller coaster ride and one we now look back on as a wonderful learning

process and thank God for the experience. Keep posting. Love and hugs to

your family, Kathy J.

[Guest guest]

Lou,

Thank you for sharing such a beautiful story. It brought back many memories

with my middle daughter. She is 22 and just recently married. Although not

diagnosed as a child with mito(although now is suspected), much of her life

was a roller coaster ride and one we now look back on as a wonderful learning

process and thank God for the experience. Keep posting. Love and hugs to

your family, Kathy J.

[Guest guest]

Lou,

Thank you for sharing such a beautiful story. It brought back many memories

with my middle daughter. She is 22 and just recently married. Although not

diagnosed as a child with mito(although now is suspected), much of her life

was a roller coaster ride and one we now look back on as a wonderful learning

process and thank God for the experience. Keep posting. Love and hugs to

your family, Kathy J.

[Guest guest]

Lou Micheaels wrote:

> Thank you for letting me share our story. I know it is long and may

> irritate some of you. If it does, I am sorry. I don't know how to

> share 14 years in any less space. If this is not an appropriate use

> of this list a apologize. I promise I won't do it again!

Lou,

Thank you so much for sharing your story and sharing your lives with

us. It is indeed a beautiful story and is exactly what is appropriate

for this list. Thank you again.

Your story is wonderful and says so much about life, and how it goes

on.... it is very refreshing to read. And please do post again.

Jeannine, mom to

Dalton, Genny and Caitlin

Complex IV

[Guest guest]

Lou

Your tribute to and your story of her life is so incredibly touching

to me. I appreciate your honesty which while encompassing reality and

it's often times darkness, also managed to give much hope. I'm glad you

shared it.

How true about the lessons of receiving being so difficult. Our society

idolizes silent courage and stoicism . While these are undoubtedly worth

cultivating, I sometimes feel we forget that there is also a grace in

asking for help, allowing others to see our tears and accepting the gifts

of others. I know I find this very hard to do. This past spring, however,

when my son was hospitalized for close to 5 months, I had no choice but to

accept help. I can not tell you how blessed our family has been through

that experience. While I believe strongly in doing for others, I now know

that there are gifts and lessons in accepting help from others as well.

Anne, mom to:

Brittany, 12

Zachary, 7, G tube, J tube, CVL for TPN/lipids, adrenal insufficient

Abby, 6 ,

, 28 months, G tube, J tube, CVL for TPN/lipids, GH deficient

Mitochondrial encephalomyopathy - complex 1 & 4 OxPhos defect

[Guest guest]

's Story Lou,

Welcome! I'm very happy you got the courage up to post. I appreciate your

positive and refreshing story and look forward to reading more about you and

your family.

Do you still live in Arizona? I live just outside of Phoenix. You mentioned

Phoenix Children's Hospital and the doctors you've seen, I would really like to

hear more about which doctors follow .

Thanks for sharing 's story!

Lipps

11, Mackenzie 7 and Savannah 3 (Complex I Encephalomyopathy)

's Story

This is my first post on this list, although I have been reading it for quite

some time. I think that of all the lists I have tried, this one is most

dedicated to informing and supporting.

I hesitate to tell our story because I don't want to bore anyone. I have

however, been very interested in the stories of others so I will take the chance

that someone might be interested in ours. I'm not nearly as poetic as Kennedy's

dad - but maybe those of you that are just starting out on this journey will see

yet another path that has been traveled.

Reading all of your stories just brought back memories at first. It was

easier to keep my distance. But now I am ready to risk just a little. I keep

thinking - gee -- I should tell them to try this -- or -- I know how that feels.

Even harder to admit is the fact that I hope that writing this is not too

painful. I am one of those moms that has learned how to 'handle' 's

illness. At least on the outside, it seldom affects my day to day life. Let's

just say that I have learned to 'manage' it.

Miraculously, turned 14 on September 3rd . . . an age we thought we

would never see. We hardly knew what to do when 12 came and went and she was

still alive. You see, we had 'prepared' ourselves for her death. And as

horrible as it may sound to you, we didn't know how to handle it when it didn't

happen. It's not like we had a cut-off date or anything...we just figured that

we wouldn't be dealing with puberty and acne. It may sound cold, but we are the

pragmatic type, and after years of testing and degeneration, we decided to focus

on her quality of life. That is the gift that a diagnosis gave us. We finally

quit trying to fix her. Now please don't get me wrong - by my definition,

fixing is very different than responsible and loving parenting - fixing assumes

that she is broken - and fixing assumes that we are done once the fixing is

done. We have learned over time that isn't broken - she is perfect just

the way she is - and that we don't want to fix her. This has not happened

quickly or without heartache.

Some background:

was born a beautiful child with 9/9 Apgars - perfect as can be. With a

very busy two year old brother, Jeff, I was so thankful that she amused herself

so well. I guess I really had this parenting thing down - wasn't I a good

mom-such a quiet baby!!! Well, weeks in the hospital and eventual kidney

surgery at 18 months progressed to speech delay by two and developmental delay

by two and half. The first few times we went back to the developmental

psychologist for 6 month 're-checks' her progress was amazing. The special

pre-school and all the time spent dragging her brother along to speech, OT, and

PT were paying off. We even decided to have another baby. Three days before

Greg was born we made our trip downtown for testing...no gain this time...a one

year loss. Not a huge surprise - I'm a teacher. . .I know child development -

but shattering just the same.

At age 5, a two week stay at Phoenix Children's Hospital's Psychiatric Unit

turned into 13 weeks - partly due to an allergic reaction to Tegretol. It's

funny, when you are a parent of such a demanding child, you just do it...you

don't really recognize what it has done to your life, or the lives of your

family members. As difficult as the separation was (parents are not allowed to

spend the night), it was good for our family. The nurses at the hospital were

exhausted after an 8 hour shift with her. Her autistic traits and hyperactivity

had become so prevalent that she seldom slept, and required constant

supervision. We received counseling, attended a parent group, and by the time

she came home we had started the long, bumpy road toward behavior management

with psychiatric medications. We thought we knew what was wrong and had a

handle on how to 'manage' it.

At age 8 , I came home from a long day of teaching just before Christmas (on

my birthday) to a very lethargic child. I knew right away that this wasn't just

a cold or the flu. Within an hour she was hospitalized and receiving IV fluids.

This began 2 years of hospitalizations and testing that took us to:

a.. Barrow's Neurological Institute (great neurologist, but a negative

(frozen) muscle biopsy result),

b.. UCSD Medical Center (wonderful staff, but a week from hell, with no

psychiatric meds., no sleep, and tons of horrid tests with numerous

'abnormalities' but no answers)

c.. and finally to The Emory Clinic in Atlanta at age 10.

All the intermittent problems she had previously encountered became magnified

and constant. All of a sudden she was in a wheel chair and fed by a g-tube.

There was never one acute moment where she nearly died, she was just slowly

slipping away from us. We thought our hearts would break and we would run out

of tears.

As you probably assume, Emory is where we got our answer - sort of. She has

an OXPHOS disease - Complex I and Complex I + III; elevated organic acids, &

amino acids along with a myriad of other complicated abnormalities. She does

not have an mtDNA deletion or duplication, nor were they able to pinpoint the

mtDNA point mutation. We don't know if I am a carrier or if she has a

spontaneous mutation. Our two boys are symptom free.

Our test results from Dr. Krawiecki and Dr. Shoffner listed numerous yearly

tests to monitor the disease. However, along with her doctors, we made a

conscious decision not to put through any more tests unless she showed a

symptom that might be treatable. Our life as we knew it (living and breathing

doctors & hospitals), was radically changed.

I'd quit my job the summer after got sick. I started trying to get to

know our boys again (then 6 and 12). We went on an incredible Make-a-Wish trip

to Disney World. That trip was life-changing for us, and I recommend such an

experience to all of you. It is awkward at first, but easy to arrange. We saw

the way others see her . . . she glowed and every part of her radiated

her love for all that is Disney. She was truly a princess for a week. Our boys

felt valued and appreciated too - after all- this isn't easy for them either.

Staying at Give Kids the World was great because everyone there was in the same

boat - it was comforting. Learning to receive is much harder than learning to

give - but it is an important lesson for all of us.

In the last four years has thrived. She no longer uses her wheel chair

unless she needs to travel a long distance (like trekking around Disneyland or

the zoo). She eats normally (prefers chocolate cake and Cheetos to salad and

green beans). She still has her Mickey button. We use it for fluids when she is

sick - keeps her out of the hospital for dehydration; medications; and

occasional feedings. I think all children that have to take yucky medications

should come with one! We were scared to death for her to get it (it seemed so

radical) and now we can't imagine life without it. She has actually grown and

some of her hyperactivity has lessened. After 6 years of inclusion in a regular

class with a 1:1 aide she is in a special ed. class and loving it. Last weekend

we had a birthday party with 15 of her special ed. friends ( and her teacher of

course). She was so thrilled. It is also nice to get to know some of the

other special ed. parents.

We have no illusions. still has a terrible disease. Whenever she is

sick or stressed we see radical regression. We know there is no pot of gold at

the end of the rainbow - but we are enjoying the rainbow. We firmly believe

that our decision not to perform unnecessary tests has made a huge difference in

her stress level. We can't pinpoint exactly why she has done so well, but we

know that fatigue and stress - both illness related and life related are

significant factors for her. CoQ10 did not benefit her when we tried it.

It has taken four years to get to the point where I am willing to do a minimum

of doctor-related inquiry again (we have, of course, kept up her well-child care

and treated all illnesses). We asked our neurologist to check with the doctors

at Emory to see if there is any new information or testing to do after 4

years---there isn't. We are going to do some blood work, and she has either

seen or will soon see her endocrinologist, gastroenterologist, psychiatrist and

neurologist. I am still doctor wary - not because of trust, they are wonderful,

but because of stress and burn-out. I fear becoming trapped in the doctor web

again.

I wonder how some of you came to the decision to be tested yourselves.

is our only daughter, so there is no heredity issue - yet at times I would like

to know if I have it - and my boys may develop it...at other times I can't

imagine why I do want to know about something that I can do nothing about. I

wonder if I would be causing future insurance problems if I do get tested and it

is positive. Some days I don't think about it all, and others I think about it

a lot. I would like to put this issue to rest.

My husband and I no longer have the constant, desperate feelings that we once

had. We have our days when we are sad - milestones like her 13th birthday, and

the day her peers started junior high are hard. Her friends from when she was

young baby-sit her now. As strange as that is, it is wonderful because she just

thinks her friend is coming over to play. Her mental retardation is a blessing

in many ways because she doesn't understand that she is sick - her needs are

simple and she is happy most of the time. She makes us laugh and shake our

heads at the same time. She can be the most difficult and most precious child

all in the same minute. We can't imagine life without her - she has made our

family special and unique.

Thank you for letting me share our story. I know it is long and may irritate

some of you. If it does, I am sorry. I don't know how to share 14 years in any

less space. If this is not an appropriate use of this list a apologize. I

promise I won't do it again!

Lou

wife to for 20 years, mom to ,14 (complex I and I+III) Jeff,16 (got

his license and freedom yesterday - it was easier to send him to kindergarten

than off in a car!) and Greg,10

Please feel free to e-mail me directly or through the list.

marilou@...

[Guest guest]

's Story Lou,

Welcome! I'm very happy you got the courage up to post. I appreciate your

positive and refreshing story and look forward to reading more about you and

your family.

Do you still live in Arizona? I live just outside of Phoenix. You mentioned

Phoenix Children's Hospital and the doctors you've seen, I would really like to

hear more about which doctors follow .

Thanks for sharing 's story!

Lipps

11, Mackenzie 7 and Savannah 3 (Complex I Encephalomyopathy)

's Story

This is my first post on this list, although I have been reading it for quite

some time. I think that of all the lists I have tried, this one is most

dedicated to informing and supporting.

I hesitate to tell our story because I don't want to bore anyone. I have

however, been very interested in the stories of others so I will take the chance

that someone might be interested in ours. I'm not nearly as poetic as Kennedy's

dad - but maybe those of you that are just starting out on this journey will see

yet another path that has been traveled.

Reading all of your stories just brought back memories at first. It was

easier to keep my distance. But now I am ready to risk just a little. I keep

thinking - gee -- I should tell them to try this -- or -- I know how that feels.

Even harder to admit is the fact that I hope that writing this is not too

painful. I am one of those moms that has learned how to 'handle' 's

illness. At least on the outside, it seldom affects my day to day life. Let's

just say that I have learned to 'manage' it.

Miraculously, turned 14 on September 3rd . . . an age we thought we

would never see. We hardly knew what to do when 12 came and went and she was

still alive. You see, we had 'prepared' ourselves for her death. And as

horrible as it may sound to you, we didn't know how to handle it when it didn't

happen. It's not like we had a cut-off date or anything...we just figured that

we wouldn't be dealing with puberty and acne. It may sound cold, but we are the

pragmatic type, and after years of testing and degeneration, we decided to focus

on her quality of life. That is the gift that a diagnosis gave us. We finally

quit trying to fix her. Now please don't get me wrong - by my definition,

fixing is very different than responsible and loving parenting - fixing assumes

that she is broken - and fixing assumes that we are done once the fixing is

done. We have learned over time that isn't broken - she is perfect just

the way she is - and that we don't want to fix her. This has not happened

quickly or without heartache.

Some background:

was born a beautiful child with 9/9 Apgars - perfect as can be. With a

very busy two year old brother, Jeff, I was so thankful that she amused herself

so well. I guess I really had this parenting thing down - wasn't I a good

mom-such a quiet baby!!! Well, weeks in the hospital and eventual kidney

surgery at 18 months progressed to speech delay by two and developmental delay

by two and half. The first few times we went back to the developmental

psychologist for 6 month 're-checks' her progress was amazing. The special

pre-school and all the time spent dragging her brother along to speech, OT, and

PT were paying off. We even decided to have another baby. Three days before

Greg was born we made our trip downtown for testing...no gain this time...a one

year loss. Not a huge surprise - I'm a teacher. . .I know child development -

but shattering just the same.

At age 5, a two week stay at Phoenix Children's Hospital's Psychiatric Unit

turned into 13 weeks - partly due to an allergic reaction to Tegretol. It's

funny, when you are a parent of such a demanding child, you just do it...you

don't really recognize what it has done to your life, or the lives of your

family members. As difficult as the separation was (parents are not allowed to

spend the night), it was good for our family. The nurses at the hospital were

exhausted after an 8 hour shift with her. Her autistic traits and hyperactivity

had become so prevalent that she seldom slept, and required constant

supervision. We received counseling, attended a parent group, and by the time

she came home we had started the long, bumpy road toward behavior management

with psychiatric medications. We thought we knew what was wrong and had a

handle on how to 'manage' it.

At age 8 , I came home from a long day of teaching just before Christmas (on

my birthday) to a very lethargic child. I knew right away that this wasn't just

a cold or the flu. Within an hour she was hospitalized and receiving IV fluids.

This began 2 years of hospitalizations and testing that took us to:

a.. Barrow's Neurological Institute (great neurologist, but a negative

(frozen) muscle biopsy result),

b.. UCSD Medical Center (wonderful staff, but a week from hell, with no

psychiatric meds., no sleep, and tons of horrid tests with numerous

'abnormalities' but no answers)

c.. and finally to The Emory Clinic in Atlanta at age 10.

All the intermittent problems she had previously encountered became magnified

and constant. All of a sudden she was in a wheel chair and fed by a g-tube.

There was never one acute moment where she nearly died, she was just slowly

slipping away from us. We thought our hearts would break and we would run out

of tears.

As you probably assume, Emory is where we got our answer - sort of. She has

an OXPHOS disease - Complex I and Complex I + III; elevated organic acids, &

amino acids along with a myriad of other complicated abnormalities. She does

not have an mtDNA deletion or duplication, nor were they able to pinpoint the

mtDNA point mutation. We don't know if I am a carrier or if she has a

spontaneous mutation. Our two boys are symptom free.

Our test results from Dr. Krawiecki and Dr. Shoffner listed numerous yearly

tests to monitor the disease. However, along with her doctors, we made a

conscious decision not to put through any more tests unless she showed a

symptom that might be treatable. Our life as we knew it (living and breathing

doctors & hospitals), was radically changed.

I'd quit my job the summer after got sick. I started trying to get to

know our boys again (then 6 and 12). We went on an incredible Make-a-Wish trip

to Disney World. That trip was life-changing for us, and I recommend such an

experience to all of you. It is awkward at first, but easy to arrange. We saw

the way others see her . . . she glowed and every part of her radiated

her love for all that is Disney. She was truly a princess for a week. Our boys

felt valued and appreciated too - after all- this isn't easy for them either.

Staying at Give Kids the World was great because everyone there was in the same

boat - it was comforting. Learning to receive is much harder than learning to

give - but it is an important lesson for all of us.

In the last four years has thrived. She no longer uses her wheel chair

unless she needs to travel a long distance (like trekking around Disneyland or

the zoo). She eats normally (prefers chocolate cake and Cheetos to salad and

green beans). She still has her Mickey button. We use it for fluids when she is

sick - keeps her out of the hospital for dehydration; medications; and

occasional feedings. I think all children that have to take yucky medications

should come with one! We were scared to death for her to get it (it seemed so

radical) and now we can't imagine life without it. She has actually grown and

some of her hyperactivity has lessened. After 6 years of inclusion in a regular

class with a 1:1 aide she is in a special ed. class and loving it. Last weekend

we had a birthday party with 15 of her special ed. friends ( and her teacher of

course). She was so thrilled. It is also nice to get to know some of the

other special ed. parents.

We have no illusions. still has a terrible disease. Whenever she is

sick or stressed we see radical regression. We know there is no pot of gold at

the end of the rainbow - but we are enjoying the rainbow. We firmly believe

that our decision not to perform unnecessary tests has made a huge difference in

her stress level. We can't pinpoint exactly why she has done so well, but we

know that fatigue and stress - both illness related and life related are

significant factors for her. CoQ10 did not benefit her when we tried it.

It has taken four years to get to the point where I am willing to do a minimum

of doctor-related inquiry again (we have, of course, kept up her well-child care

and treated all illnesses). We asked our neurologist to check with the doctors

at Emory to see if there is any new information or testing to do after 4

years---there isn't. We are going to do some blood work, and she has either

seen or will soon see her endocrinologist, gastroenterologist, psychiatrist and

neurologist. I am still doctor wary - not because of trust, they are wonderful,

but because of stress and burn-out. I fear becoming trapped in the doctor web

again.

I wonder how some of you came to the decision to be tested yourselves.

is our only daughter, so there is no heredity issue - yet at times I would like

to know if I have it - and my boys may develop it...at other times I can't

imagine why I do want to know about something that I can do nothing about. I

wonder if I would be causing future insurance problems if I do get tested and it

is positive. Some days I don't think about it all, and others I think about it

a lot. I would like to put this issue to rest.

My husband and I no longer have the constant, desperate feelings that we once

had. We have our days when we are sad - milestones like her 13th birthday, and

the day her peers started junior high are hard. Her friends from when she was

young baby-sit her now. As strange as that is, it is wonderful because she just

thinks her friend is coming over to play. Her mental retardation is a blessing

in many ways because she doesn't understand that she is sick - her needs are

simple and she is happy most of the time. She makes us laugh and shake our

heads at the same time. She can be the most difficult and most precious child

all in the same minute. We can't imagine life without her - she has made our

family special and unique.

Thank you for letting me share our story. I know it is long and may irritate

some of you. If it does, I am sorry. I don't know how to share 14 years in any

less space. If this is not an appropriate use of this list a apologize. I

promise I won't do it again!

Lou

wife to for 20 years, mom to ,14 (complex I and I+III) Jeff,16 (got

his license and freedom yesterday - it was easier to send him to kindergarten

than off in a car!) and Greg,10

Please feel free to e-mail me directly or through the list.

marilou@...

[Guest guest]

's Story Lou,

Welcome! I'm very happy you got the courage up to post. I appreciate your

positive and refreshing story and look forward to reading more about you and

your family.

Do you still live in Arizona? I live just outside of Phoenix. You mentioned

Phoenix Children's Hospital and the doctors you've seen, I would really like to

hear more about which doctors follow .

Thanks for sharing 's story!

Lipps

11, Mackenzie 7 and Savannah 3 (Complex I Encephalomyopathy)

's Story

This is my first post on this list, although I have been reading it for quite

some time. I think that of all the lists I have tried, this one is most

dedicated to informing and supporting.

I hesitate to tell our story because I don't want to bore anyone. I have

however, been very interested in the stories of others so I will take the chance

that someone might be interested in ours. I'm not nearly as poetic as Kennedy's

dad - but maybe those of you that are just starting out on this journey will see

yet another path that has been traveled.

Reading all of your stories just brought back memories at first. It was

easier to keep my distance. But now I am ready to risk just a little. I keep

thinking - gee -- I should tell them to try this -- or -- I know how that feels.

Even harder to admit is the fact that I hope that writing this is not too

painful. I am one of those moms that has learned how to 'handle' 's

illness. At least on the outside, it seldom affects my day to day life. Let's

just say that I have learned to 'manage' it.

Miraculously, turned 14 on September 3rd . . . an age we thought we

would never see. We hardly knew what to do when 12 came and went and she was

still alive. You see, we had 'prepared' ourselves for her death. And as

horrible as it may sound to you, we didn't know how to handle it when it didn't

happen. It's not like we had a cut-off date or anything...we just figured that

we wouldn't be dealing with puberty and acne. It may sound cold, but we are the

pragmatic type, and after years of testing and degeneration, we decided to focus

on her quality of life. That is the gift that a diagnosis gave us. We finally

quit trying to fix her. Now please don't get me wrong - by my definition,

fixing is very different than responsible and loving parenting - fixing assumes

that she is broken - and fixing assumes that we are done once the fixing is

done. We have learned over time that isn't broken - she is perfect just

the way she is - and that we don't want to fix her. This has not happened

quickly or without heartache.

Some background:

was born a beautiful child with 9/9 Apgars - perfect as can be. With a

very busy two year old brother, Jeff, I was so thankful that she amused herself

so well. I guess I really had this parenting thing down - wasn't I a good

mom-such a quiet baby!!! Well, weeks in the hospital and eventual kidney

surgery at 18 months progressed to speech delay by two and developmental delay

by two and half. The first few times we went back to the developmental

psychologist for 6 month 're-checks' her progress was amazing. The special

pre-school and all the time spent dragging her brother along to speech, OT, and

PT were paying off. We even decided to have another baby. Three days before

Greg was born we made our trip downtown for testing...no gain this time...a one

year loss. Not a huge surprise - I'm a teacher. . .I know child development -

but shattering just the same.

At age 5, a two week stay at Phoenix Children's Hospital's Psychiatric Unit

turned into 13 weeks - partly due to an allergic reaction to Tegretol. It's

funny, when you are a parent of such a demanding child, you just do it...you

don't really recognize what it has done to your life, or the lives of your

family members. As difficult as the separation was (parents are not allowed to

spend the night), it was good for our family. The nurses at the hospital were

exhausted after an 8 hour shift with her. Her autistic traits and hyperactivity

had become so prevalent that she seldom slept, and required constant

supervision. We received counseling, attended a parent group, and by the time

she came home we had started the long, bumpy road toward behavior management

with psychiatric medications. We thought we knew what was wrong and had a

handle on how to 'manage' it.

At age 8 , I came home from a long day of teaching just before Christmas (on

my birthday) to a very lethargic child. I knew right away that this wasn't just

a cold or the flu. Within an hour she was hospitalized and receiving IV fluids.

This began 2 years of hospitalizations and testing that took us to:

a.. Barrow's Neurological Institute (great neurologist, but a negative

(frozen) muscle biopsy result),

b.. UCSD Medical Center (wonderful staff, but a week from hell, with no

psychiatric meds., no sleep, and tons of horrid tests with numerous

'abnormalities' but no answers)

c.. and finally to The Emory Clinic in Atlanta at age 10.

All the intermittent problems she had previously encountered became magnified

and constant. All of a sudden she was in a wheel chair and fed by a g-tube.

There was never one acute moment where she nearly died, she was just slowly

slipping away from us. We thought our hearts would break and we would run out

of tears.

As you probably assume, Emory is where we got our answer - sort of. She has

an OXPHOS disease - Complex I and Complex I + III; elevated organic acids, &

amino acids along with a myriad of other complicated abnormalities. She does

not have an mtDNA deletion or duplication, nor were they able to pinpoint the

mtDNA point mutation. We don't know if I am a carrier or if she has a

spontaneous mutation. Our two boys are symptom free.

Our test results from Dr. Krawiecki and Dr. Shoffner listed numerous yearly

tests to monitor the disease. However, along with her doctors, we made a

conscious decision not to put through any more tests unless she showed a

symptom that might be treatable. Our life as we knew it (living and breathing

doctors & hospitals), was radically changed.

I'd quit my job the summer after got sick. I started trying to get to

know our boys again (then 6 and 12). We went on an incredible Make-a-Wish trip

to Disney World. That trip was life-changing for us, and I recommend such an

experience to all of you. It is awkward at first, but easy to arrange. We saw

the way others see her . . . she glowed and every part of her radiated

her love for all that is Disney. She was truly a princess for a week. Our boys

felt valued and appreciated too - after all- this isn't easy for them either.

Staying at Give Kids the World was great because everyone there was in the same

boat - it was comforting. Learning to receive is much harder than learning to

give - but it is an important lesson for all of us.

In the last four years has thrived. She no longer uses her wheel chair

unless she needs to travel a long distance (like trekking around Disneyland or

the zoo). She eats normally (prefers chocolate cake and Cheetos to salad and

green beans). She still has her Mickey button. We use it for fluids when she is

sick - keeps her out of the hospital for dehydration; medications; and

occasional feedings. I think all children that have to take yucky medications

should come with one! We were scared to death for her to get it (it seemed so

radical) and now we can't imagine life without it. She has actually grown and

some of her hyperactivity has lessened. After 6 years of inclusion in a regular

class with a 1:1 aide she is in a special ed. class and loving it. Last weekend

we had a birthday party with 15 of her special ed. friends ( and her teacher of

course). She was so thrilled. It is also nice to get to know some of the

other special ed. parents.

We have no illusions. still has a terrible disease. Whenever she is

sick or stressed we see radical regression. We know there is no pot of gold at

the end of the rainbow - but we are enjoying the rainbow. We firmly believe

that our decision not to perform unnecessary tests has made a huge difference in

her stress level. We can't pinpoint exactly why she has done so well, but we

know that fatigue and stress - both illness related and life related are

significant factors for her. CoQ10 did not benefit her when we tried it.

It has taken four years to get to the point where I am willing to do a minimum

of doctor-related inquiry again (we have, of course, kept up her well-child care

and treated all illnesses). We asked our neurologist to check with the doctors

at Emory to see if there is any new information or testing to do after 4

years---there isn't. We are going to do some blood work, and she has either

seen or will soon see her endocrinologist, gastroenterologist, psychiatrist and

neurologist. I am still doctor wary - not because of trust, they are wonderful,

but because of stress and burn-out. I fear becoming trapped in the doctor web

again.

I wonder how some of you came to the decision to be tested yourselves.

is our only daughter, so there is no heredity issue - yet at times I would like

to know if I have it - and my boys may develop it...at other times I can't

imagine why I do want to know about something that I can do nothing about. I

wonder if I would be causing future insurance problems if I do get tested and it

is positive. Some days I don't think about it all, and others I think about it

a lot. I would like to put this issue to rest.

My husband and I no longer have the constant, desperate feelings that we once

had. We have our days when we are sad - milestones like her 13th birthday, and

the day her peers started junior high are hard. Her friends from when she was

young baby-sit her now. As strange as that is, it is wonderful because she just

thinks her friend is coming over to play. Her mental retardation is a blessing

in many ways because she doesn't understand that she is sick - her needs are

simple and she is happy most of the time. She makes us laugh and shake our

heads at the same time. She can be the most difficult and most precious child

all in the same minute. We can't imagine life without her - she has made our

family special and unique.

Thank you for letting me share our story. I know it is long and may irritate

some of you. If it does, I am sorry. I don't know how to share 14 years in any

less space. If this is not an appropriate use of this list a apologize. I

promise I won't do it again!

Lou

wife to for 20 years, mom to ,14 (complex I and I+III) Jeff,16 (got

his license and freedom yesterday - it was easier to send him to kindergarten

than off in a car!) and Greg,10

Please feel free to e-mail me directly or through the list.

marilou@...

[Guest guest]

Lou,

I was really touched by your post. My son has not yet been diagnosed

with anything, but your story really hits home a lot of the frustrations

and fears that I am feeling right now. I am glad you decided to emerge

with that story.

Best,

(mom to , age 2.5, nystagmus, optic atrophy (?),

developmental delay, ataxia, hypotonia, autistic behavior)

Lou Micheaels wrote:

> This is my first post on this list, although I have been reading it

> for quite some time. I think that of all the lists I have tried, this

> one is most dedicated to informing and supporting.

>

> I hesitate to tell our story because I don't want to bore anyone. I

> have however, been very interested in the stories of others so I will

> take the chance that someone might be interested in ours. I'm not

> nearly as poetic as Kennedy's dad - but maybe those of you that are

> just starting out on this journey will see yet another path that has

> been traveled.

>

> Reading all of your stories just brought back memories at first. It

> was easier to keep my distance. But now I am ready to risk just a

> little. I keep thinking - gee -- I should tell them to try this -- or

> -- I know how that feels. Even harder to admit is the fact that I

> hope that writing this is not too painful. I am one of those moms

> that has learned how to 'handle' 's illness. At least on the

> outside, it seldom affects my day to day life. Let's just say that I

> have learned to 'manage' it.

>

> Miraculously, turned 14 on September 3rd . . . an age we

> thought we would never see. We hardly knew what to do when 12 came

> and went and she was still alive. You see, we had 'prepared'

> ourselves for her death. And as horrible as it may sound to you, we

> didn't know how to handle it when it didn't happen. It's not like we

> had a cut-off date or anything...we just figured that we wouldn't be

> dealing with puberty and acne. It may sound cold, but we are the

> pragmatic type, and after years of testing and degeneration, we

> decided to focus on her quality of life. That is the gift that a

> diagnosis gave us. We finally quit trying to fix her. Now please

> don't get me wrong - by my definition, fixing is very different than

> responsible and loving parenting - fixing assumes that she is broken -

> and fixing assumes that we are done once the fixing is done. We have

> learned over time that isn't broken - she is perfect just the

> way she is - and that we don't want to fix her. This has not happened

> quickly or without heartache.

>

> Some background:

> was born a beautiful child with 9/9 Apgars - perfect as can

> be. With a very busy two year old brother, Jeff, I was so thankful

> that she amused herself so well. I guess I really had this parenting

> thing down - wasn't I a good mom-such a quiet baby!!! Well, weeks in

> the hospital and eventual kidney surgery at 18 months progressed to

> speech delay by two and developmental delay by two and half. The

> first few times we went back to the developmental psychologist for 6

> month 're-checks' her progress was amazing. The special pre-school

> and all the time spent dragging her brother along to speech, OT, and

> PT were paying off. We even decided to have another baby. Three days

> before Greg was born we made our trip downtown for testing...no gain

> this time...a one year loss. Not a huge surprise - I'm a teacher. .

> .I know child development - but shattering just the same.

>

> At age 5, a two week stay at Phoenix Children's Hospital's Psychiatric

> Unit turned into 13 weeks - partly due to an allergic reaction to

> Tegretol. It's funny, when you are a parent of such a demanding

> child, you just do it...you don't really recognize what it has done to

> your life, or the lives of your family members. As difficult as the

> separation was (parents are not allowed to spend the night), it was

> good for our family. The nurses at the hospital were exhausted after

> an 8 hour shift with her. Her autistic traits and hyperactivity had

> become so prevalent that she seldom slept, and required constant

> supervision. We received counseling, attended a parent group, and by

> the time she came home we had started the long, bumpy road toward

> behavior management with psychiatric medications. We thought we knew

> what was wrong and had a handle on how to 'manage' it.

>

> At age 8 , I came home from a long day of teaching just before

> Christmas (on my birthday) to a very lethargic child. I knew right

> away that this wasn't just a cold or the flu. Within an hour she was

> hospitalized and receiving IV fluids. This began 2 years of

> hospitalizations and testing that took us to:

>

> * Barrow's Neurological Institute (great neurologist, but a

> negative (frozen) muscle biopsy result),

> * UCSD Medical Center (wonderful staff, but a week from hell, with

> no psychiatric meds., no sleep, and tons of horrid tests with

> numerous 'abnormalities' but no answers)

> * and finally to The Emory Clinic in Atlanta at age 10.

>

>

> All the intermittent problems she had previously encountered became

> magnified and constant. All of a sudden she was in a wheel chair and

> fed by a g-tube. There was never one acute moment where she nearly

> died, she was just slowly slipping away from us. We thought our

> hearts would break and we would run out of tears.

>

> As you probably assume, Emory is where we got our answer - sort of.

> She has an OXPHOS disease - Complex I and Complex I + III; elevated

> organic acids, & amino acids along with a myriad of other complicated

> abnormalities. She does not have an mtDNA deletion or duplication,

> nor were they able to pinpoint the mtDNA point mutation. We don't

> know if I am a carrier or if she has a spontaneous mutation. Our two

> boys are symptom free.

>

> Our test results from Dr. Krawiecki and Dr. Shoffner listed numerous

> yearly tests to monitor the disease. However, along with her doctors,

> we made a conscious decision not to put through any more tests

> unless she showed a symptom that might be treatable. Our life as we

> knew it (living and breathing doctors & hospitals), was radically

> changed.

>

> I'd quit my job the summer after got sick. I started trying to

> get to know our boys again (then 6 and 12). We went on an incredible

> Make-a-Wish trip to Disney World. That trip was life-changing for us,

> and I recommend such an experience to all of you. It is awkward at

> first, but easy to arrange. We saw the way others see her . .

> . she glowed and every part of her radiated her love for all that is

> Disney. She was truly a princess for a week. Our boys felt valued

> and appreciated too - after all- this isn't easy for them either.

> Staying at Give Kids the World was great because everyone there was in

> the same boat - it was comforting. Learning to receive is much harder

> than learning to give - but it is an important lesson for all of us.

>

> In the last four years has thrived. She no longer uses her

> wheel chair unless she needs to travel a long distance (like trekking

> around Disneyland or the zoo). She eats normally (prefers chocolate

> cake and Cheetos to salad and green beans). She still has her Mickey

> button. We use it for fluids when she is sick - keeps her out of the

> hospital for dehydration; medications; and occasional feedings. I

> think all children that have to take yucky medications should come

> with one! We were scared to death for her to get it (it seemed so

> radical) and now we can't imagine life without it. She has actually

> grown and some of her hyperactivity has lessened. After 6 years of

> inclusion in a regular class with a 1:1 aide she is in a special ed.

> class and loving it. Last weekend we had a birthday party with 15 of

> her special ed. friends ( and her teacher of course). She was so

> thrilled. It is also nice to get to know some of the other special

> ed. parents.

>

> We have no illusions. still has a terrible disease. Whenever

> she is sick or stressed we see radical regression. We know there is

> no pot of gold at the end of the rainbow - but we are enjoying the

> rainbow. We firmly believe that our decision not to perform

> unnecessary tests has made a huge difference in her stress level. We

> can't pinpoint exactly why she has done so well, but we know that

> fatigue and stress - both illness related and life related are

> significant factors for her. CoQ10 did not benefit her when we tried

> it.

>

> It has taken four years to get to the point where I am willing to do a

> minimum of doctor-related inquiry again (we have, of course, kept up

> her well-child care and treated all illnesses). We asked our

> neurologist to check with the doctors at Emory to see if there is any

> new information or testing to do after 4 years---there isn't. We are

> going to do some blood work, and she has either seen or will soon see

> her endocrinologist, gastroenterologist, psychiatrist and

> neurologist. I am still doctor wary - not because of trust, they are

> wonderful, but because of stress and burn-out. I fear becoming

> trapped in the doctor web again.

>

> I wonder how some of you came to the decision to be tested

> yourselves. is our only daughter, so there is no heredity

> issue - yet at times I would like to know if I have it - and my boys

> may develop it...at other times I can't imagine why I do want to know

> about something that I can do nothing about. I wonder if I would be

> causing future insurance problems if I do get tested and it is

> positive. Some days I don't think about it all, and others I think

> about it a lot. I would like to put this issue to rest.

>

> My husband and I no longer have the constant, desperate feelings that

> we once had. We have our days when we are sad - milestones like her

> 13th birthday, and the day her peers started junior high are hard.

> Her friends from when she was young baby-sit her now. As strange as

> that is, it is wonderful because she just thinks her friend is coming

> over to play. Her mental retardation is a blessing in many ways

> because she doesn't understand that she is sick - her needs are simple

> and she is happy most of the time. She makes us laugh and shake our

> heads at the same time. She can be the most difficult and most

> precious child all in the same minute. We can't imagine life without

> her - she has made our family special and unique.

>

> Thank you for letting me share our story. I know it is long and may

> irritate some of you. If it does, I am sorry. I don't know how to

> share 14 years in any less space. If this is not an appropriate use

> of this list a apologize. I promise I won't do it again!

>

> Lou

> wife to for 20 years, mom to ,14 (complex I and I+III)

> Jeff,16 (got his license and freedom yesterday - it was easier to send

> him to kindergarten than off in a car!) and Greg,10

> Please feel free to e-mail me directly or through the list.

> marilou@...

>

>

[Guest guest]

In a message dated 09/21/1999 5:52:33 PM Eastern Daylight Time,

marilou@... writes:

> Thank you for letting me share our story. I know it is long and may

> irritate some of you. If it does, I am sorry. I don't know how to share

14

> years in any less space. If this is not an appropriate use of this list a

> apologize. I promise I won't do it again!

Lou,

I'm so thankful that you DID decide to share your beautiful story! I look

forward to your future posts and again, thank you!

, Mommy to - Complex I

[Guest guest]

Thank you for your story Lou and you need not apologise for your

story. I gives others a chance to learn of your struggles and see the

positive side of mito disorders. It is the wisdom you have passed on

that will help to reassure parents.

Linna w/ CPEO

Lou Micheaels wrote:

>

> This is my first post on this list, although I have been reading it

> for quite some time. I think that of all the lists I have tried, this

> one is most dedicated to informing and supporting.

>

> I hesitate to tell our story because I don't want to bore anyone. I

> have however, been very interested in the stories of others so I will

> take the chance that someone might be interested in ours. I'm not

> nearly as poetic as Kennedy's dad - but maybe those of you that are

> just starting out on this journey will see yet another path that has

> been traveled.

>

> Reading all of your stories just brought back memories at first. It

> was easier to keep my distance. But now I am ready to risk just a

> little. I keep thinking - gee -- I should tell them to try this -- or

> -- I know how that feels. Even harder to admit is the fact that I

> hope that writing this is not too painful. I am one of those moms

> that has learned how to 'handle' 's illness. At least on the

> outside, it seldom affects my day to day life. Let's just say that I

> have learned to 'manage' it.

>

> Miraculously, turned 14 on September 3rd . . . an age we

> thought we would never see. We hardly knew what to do when 12 came

> and went and she was still alive. You see, we had 'prepared'

> ourselves for her death. And as horrible as it may sound to you, we

> didn't know how to handle it when it didn't happen. It's not like we

> had a cut-off date or anything...we just figured that we wouldn't be

> dealing with puberty and acne. It may sound cold, but we are the

> pragmatic type, and after years of testing and degeneration, we

> decided to focus on her quality of life. That is the gift that a

> diagnosis gave us. We finally quit trying to fix her. Now please

> don't get me wrong - by my definition, fixing is very different than

> responsible and loving parenting - fixing assumes that she is broken -

> and fixing assumes that we are done once the fixing is done. We have

> learned over time that isn't broken - she is perfect just the

> way she is - and that we don't want to fix her. This has not happened

> quickly or without heartache.

>

> Some background:

> was born a beautiful child with 9/9 Apgars - perfect as can be.

> With a very busy two year old brother, Jeff, I was so thankful that

> she amused herself so well. I guess I really had this parenting thing

> down - wasn't I a good mom-such a quiet baby!!! Well, weeks in the

> hospital and eventual kidney surgery at 18 months progressed to speech

> delay by two and developmental delay by two and half. The first few

> times we went back to the developmental psychologist for 6 month

> 're-checks' her progress was amazing. The special pre-school and all

> the time spent dragging her brother along to speech, OT, and PT were

> paying off. We even decided to have another baby. Three days before

> Greg was born we made our trip downtown for testing...no gain this

> time...a one year loss. Not a huge surprise - I'm a teacher. . .I

> know child development - but shattering just the same.

>

> At age 5, a two week stay at Phoenix Children's Hospital's Psychiatric

> Unit turned into 13 weeks - partly due to an allergic reaction to

> Tegretol. It's funny, when you are a parent of such a demanding

> child, you just do it...you don't really recognize what it has done to

> your life, or the lives of your family members. As difficult as the

> separation was (parents are not allowed to spend the night), it was

> good for our family. The nurses at the hospital were exhausted after

> an 8 hour shift with her. Her autistic traits and hyperactivity had

> become so prevalent that she seldom slept, and required constant

> supervision. We received counseling, attended a parent group, and by

> the time she came home we had started the long, bumpy road toward

> behavior management with psychiatric medications. We thought we knew

> what was wrong and had a handle on how to 'manage' it.

>

> At age 8 , I came home from a long day of teaching just before

> Christmas (on my birthday) to a very lethargic child. I knew right

> away that this wasn't just a cold or the flu. Within an hour she was

> hospitalized and receiving IV fluids. This began 2 years of

> hospitalizations and testing that took us to:

>

> * Barrow's Neurological Institute (great neurologist, but a

> negative (frozen) muscle biopsy result),

> * UCSD Medical Center (wonderful staff, but a week from hell, with

> no psychiatric meds., no sleep, and tons of horrid tests with

> numerous 'abnormalities' but no answers)

> * and finally to The Emory Clinic in Atlanta at age 10.

>

> All the intermittent problems she had previously encountered became

> magnified and constant. All of a sudden she was in a wheel chair and

> fed by a g-tube. There was never one acute moment where she nearly

> died, she was just slowly slipping away from us. We thought our

> hearts would break and we would run out of tears.

>

> As you probably assume, Emory is where we got our answer - sort of.

> She has an OXPHOS disease - Complex I and Complex I + III; elevated

> organic acids, & amino acids along with a myriad of other complicated

> abnormalities. She does not have an mtDNA deletion or duplication,

> nor were they able to pinpoint the mtDNA point mutation. We don't

> know if I am a carrier or if she has a spontaneous mutation. Our two

> boys are symptom free.

>

> Our test results from Dr. Krawiecki and Dr. Shoffner listed numerous

> yearly tests to monitor the disease. However, along with her doctors,

> we made a conscious decision not to put through any more tests

> unless she showed a symptom that might be treatable. Our life as we

> knew it (living and breathing doctors & hospitals), was radically

> changed.

>

> I'd quit my job the summer after got sick. I started trying to

> get to know our boys again (then 6 and 12). We went on an incredible

> Make-a-Wish trip to Disney World. That trip was life-changing for us,

> and I recommend such an experience to all of you. It is awkward at

> first, but easy to arrange. We saw the way others see her . .

> . she glowed and every part of her radiated her love for all that is

> Disney. She was truly a princess for a week. Our boys felt valued

> and appreciated too - after all- this isn't easy for them either.

> Staying at Give Kids the World was great because everyone there was

> in the same boat - it was comforting. Learning to receive is much

> harder than learning to give - but it is an important lesson for all

> of us.

>

> In the last four years has thrived. She no longer uses her

> wheel chair unless she needs to travel a long distance (like trekking

> around Disneyland or the zoo). She eats normally (prefers chocolate

> cake and Cheetos to salad and green beans). She still has her Mickey

> button. We use it for fluids when she is sick - keeps her out of the

> hospital for dehydration; medications; and occasional feedings. I

> think all children that have to take yucky medications should come

> with one! We were scared to death for her to get it (it seemed so

> radical) and now we can't imagine life without it. She has actually

> grown and some of her hyperactivity has lessened. After 6 years of

> inclusion in a regular class with a 1:1 aide she is in a special ed.

> class and loving it. Last weekend we had a birthday party with 15 of

> her special ed. friends ( and her teacher of course). She was so

> thrilled. It is also nice to get to know some of the other special

> ed. parents.

>

> We have no illusions. still has a terrible disease. Whenever

> she is sick or stressed we see radical regression. We know there is

> no pot of gold at the end of the rainbow - but we are enjoying the

> rainbow. We firmly believe that our decision not to perform

> unnecessary tests has made a huge difference in her stress level. We

> can't pinpoint exactly why she has done so well, but we know that

> fatigue and stress - both illness related and life related are

> significant factors for her. CoQ10 did not benefit her when we tried

> it.

>

> It has taken four years to get to the point where I am willing to do a

> minimum of doctor-related inquiry again (we have, of course, kept up

> her well-child care and treated all illnesses). We asked our

> neurologist to check with the doctors at Emory to see if there is any

> new information or testing to do after 4 years---there isn't. We are

> going to do some blood work, and she has either seen or will soon see

> her endocrinologist, gastroenterologist, psychiatrist and neurologist.

> I am still doctor wary - not because of trust, they are wonderful,

> but because of stress and burn-out. I fear becoming trapped in the

> doctor web again.

>

> I wonder how some of you came to the decision to be tested yourselves.

> is our only daughter, so there is no heredity issue - yet at

> times I would like to know if I have it - and my boys may develop

> it...at other times I can't imagine why I do want to know about

> something that I can do nothing about. I wonder if I would be causing

> future insurance problems if I do get tested and it is positive. Some

> days I don't think about it all, and others I think about it a lot. I

> would like to put this issue to rest.

>

> My husband and I no longer have the constant, desperate feelings that

> we once had. We have our days when we are sad - milestones like her

> 13th birthday, and the day her peers started junior high are hard.

> Her friends from when she was young baby-sit her now. As strange as

> that is, it is wonderful because she just thinks her friend is coming

> over to play. Her mental retardation is a blessing in many ways

> because she doesn't understand that she is sick - her needs are simple

> and she is happy most of the time. She makes us laugh and shake our

> heads at the same time. She can be the most difficult and most

> precious child all in the same minute. We can't imagine life without

> her - she has made our family special and unique.

>

> Thank you for letting me share our story. I know it is long and may

> irritate some of you. If it does, I am sorry. I don't know how to

> share 14 years in any less space. If this is not an appropriate use

> of this list a apologize. I promise I won't do it again!

>

> Lou

> wife to for 20 years, mom to ,14 (complex I and I+III)

> Jeff,16 (got his license and freedom yesterday - it was easier to send

> him to kindergarten than off in a car!) and Greg,10

> Please feel free to e-mail me directly or through the list.

> marilou@...

[Guest guest]

<<You see, we had 'prepared' ourselves for her death>>

- Lou, mom to

We prepared for 's death before she was even born, we knew something was

wrong in my 7th month, an MRi showed a lot of brain damage and we were told, I

was keeping the baby alive. Ha - is here, alive and has the most adorable

little face - blond hair, blue eyes, wide smile. Every day I look at her face

and see the most beautiful little angel. 's story gives me hope, thanks

for sharing it. I'm new on the mito journey - still waiting for an appointment

for a diagnosis. Thanks for sharing. I look forward to the responses you'll

get about your fears of being tested yourself.

Amy (mom to (21mos), possible mito,possible seizures, global

developmental delay, microcepaly, GI reflux and GI delay in emptying, CVI, ?

Hearing, and the best smile and giggle)

's Story

This is my first post on this list, although I have been reading it for

quite some time. I think that of all the lists I have tried, this one is most

dedicated to informing and supporting.

I hesitate to tell our story because I don't want to bore anyone. I have

however, been very interested in the stories of others so I will take the chance

that someone might be interested in ours. I'm not nearly as poetic as Kennedy's

dad - but maybe those of you that are just starting out on this journey will see

yet another path that has been traveled.

Reading all of your stories just brought back memories at first. It was

easier to keep my distance. But now I am ready to risk just a little. I keep

thinking - gee -- I should tell them to try this -- or -- I know how that feels.

Even harder to admit is the fact that I hope that writing this is not too

painful. I am one of those moms that has learned how to 'handle' 's

illness. At least on the outside, it seldom affects my day to day life. Let's

just say that I have learned to 'manage' it.

Miraculously, turned 14 on September 3rd . . . an age we thought we

would never see. We hardly knew what to do when 12 came and went and she was

still alive. You see, we had 'prepared' ourselves for her death. And as

horrible as it may sound to you, we didn't know how to handle it when it didn't

happen. It's not like we had a cut-off date or anything...we just figured that

we wouldn't be dealing with puberty and acne. It may sound cold, but we are the

pragmatic type, and after years of testing and degeneration, we decided to focus

on her quality of life. That is the gift that a diagnosis gave us. We finally

quit trying to fix her. Now please don't get me wrong - by my definition,

fixing is very different than responsible and loving parenting - fixing assumes

that she is broken - and fixing assumes that we are done once the fixing is

done. We have learned over time that isn't broken - she is perfect just

the way she is - and that we don't want to fix her. This has not happened

quickly or without heartache.

Some background:

was born a beautiful child with 9/9 Apgars - perfect as can be. With

a very busy two year old brother, Jeff, I was so thankful that she amused

herself so well. I guess I really had this parenting thing down - wasn't I a

good mom-such a quiet baby!!! Well, weeks in the hospital and eventual kidney

surgery at 18 months progressed to speech delay by two and developmental delay

by two and half. The first few times we went back to the developmental

psychologist for 6 month 're-checks' her progress was amazing. The special

pre-school and all the time spent dragging her brother along to speech, OT, and

PT were paying off. We even decided to have another baby. Three days before

Greg was born we made our trip downtown for testing...no gain this time...a one

year loss. Not a huge surprise - I'm a teacher. . .I know child development -

but shattering just the same.

At age 5, a two week stay at Phoenix Children's Hospital's Psychiatric Unit

turned into 13 weeks - partly due to an allergic reaction to Tegretol. It's

funny, when you are a parent of such a demanding child, you just do it...you

don't really recognize what it has done to your life, or the lives of your

family members. As difficult as the separation was (parents are not allowed to

spend the night), it was good for our family. The nurses at the hospital were

exhausted after an 8 hour shift with her. Her autistic traits and hyperactivity

had become so prevalent that she seldom slept, and required constant

supervision. We received counseling, attended a parent group, and by the time

she came home we had started the long, bumpy road toward behavior management

with psychiatric medications. We thought we knew what was wrong and had a

handle on how to 'manage' it.

At age 8 , I came home from a long day of teaching just before Christmas (on

my birthday) to a very lethargic child. I knew right away that this wasn't just

a cold or the flu. Within an hour she was hospitalized and receiving IV fluids.

This began 2 years of hospitalizations and testing that took us to:

a.. Barrow's Neurological Institute (great neurologist, but a negative

(frozen) muscle biopsy result),

b.. UCSD Medical Center (wonderful staff, but a week from hell, with no

psychiatric meds., no sleep, and tons of horrid tests with numerous

'abnormalities' but no answers)

c.. and finally to The Emory Clinic in Atlanta at age 10.

All the intermittent problems she had previously encountered became

magnified and constant. All of a sudden she was in a wheel chair and fed by a

g-tube. There was never one acute moment where she nearly died, she was just

slowly slipping away from us. We thought our hearts would break and we would

run out of tears.

As you probably assume, Emory is where we got our answer - sort of. She has

an OXPHOS disease - Complex I and Complex I + III; elevated organic acids, &

amino acids along with a myriad of other complicated abnormalities. She does

not have an mtDNA deletion or duplication, nor were they able to pinpoint the

mtDNA point mutation. We don't know if I am a carrier or if she has a

spontaneous mutation. Our two boys are symptom free.

Our test results from Dr. Krawiecki and Dr. Shoffner listed numerous yearly

tests to monitor the disease. However, along with her doctors, we made a

conscious decision not to put through any more tests unless she showed a

symptom that might be treatable. Our life as we knew it (living and breathing

doctors & hospitals), was radically changed.

I'd quit my job the summer after got sick. I started trying to get

to know our boys again (then 6 and 12). We went on an incredible Make-a-Wish

trip to Disney World. That trip was life-changing for us, and I recommend such

an experience to all of you. It is awkward at first, but easy to arrange. We

saw the way others see her . . . she glowed and every part of her

radiated her love for all that is Disney. She was truly a princess for a week.

Our boys felt valued and appreciated too - after all- this isn't easy for them

either. Staying at Give Kids the World was great because everyone there was in

the same boat - it was comforting. Learning to receive is much harder than

learning to give - but it is an important lesson for all of us.

In the last four years has thrived. She no longer uses her wheel

chair unless she needs to travel a long distance (like trekking around

Disneyland or the zoo). She eats normally (prefers chocolate cake and Cheetos

to salad and green beans). She still has her Mickey button. We use it for

fluids when she is sick - keeps her out of the hospital for dehydration;

medications; and occasional feedings. I think all children that have to take

yucky medications should come with one! We were scared to death for her to get

it (it seemed so radical) and now we can't imagine life without it. She has

actually grown and some of her hyperactivity has lessened. After 6 years of

inclusion in a regular class with a 1:1 aide she is in a special ed. class and

loving it. Last weekend we had a birthday party with 15 of her special ed.

friends ( and her teacher of course). She was so thrilled. It is also nice to

get to know some of the other special ed. parents.

We have no illusions. still has a terrible disease. Whenever she is

sick or stressed we see radical regression. We know there is no pot of gold at

the end of the rainbow - but we are enjoying the rainbow. We firmly believe

that our decision not to perform unnecessary tests has made a huge difference in

her stress level. We can't pinpoint exactly why she has done so well, but we

know that fatigue and stress - both illness related and life related are

significant factors for her. CoQ10 did not benefit her when we tried it.

It has taken four years to get to the point where I am willing to do a

minimum of doctor-related inquiry again (we have, of course, kept up her

well-child care and treated all illnesses). We asked our neurologist to check

with the doctors at Emory to see if there is any new information or testing to

do after 4 years---there isn't. We are going to do some blood work, and she has

either seen or will soon see her endocrinologist, gastroenterologist,

psychiatrist and neurologist. I am still doctor wary - not because of trust,

they are wonderful, but because of stress and burn-out. I fear becoming trapped

in the doctor web again.

I wonder how some of you came to the decision to be tested yourselves.

is our only daughter, so there is no heredity issue - yet at times I

would like to know if I have it - and my boys may develop it...at other times I

can't imagine why I do want to know about something that I can do nothing about.

I wonder if I would be causing future insurance problems if I do get tested and

it is positive. Some days I don't think about it all, and others I think about

it a lot. I would like to put this issue to rest.

My husband and I no longer have the constant, desperate feelings that we

once had. We have our days when we are sad - milestones like her 13th birthday,

and the day her peers started junior high are hard. Her friends from when she

was young baby-sit her now. As strange as that is, it is wonderful because she

just thinks her friend is coming over to play. Her mental retardation is a

blessing in many ways because she doesn't understand that she is sick - her

needs are simple and she is happy most of the time. She makes us laugh and

shake our heads at the same time. She can be the most difficult and most

precious child all in the same minute. We can't imagine life without her - she

has made our family special and unique.

Thank you for letting me share our story. I know it is long and may

irritate some of you. If it does, I am sorry. I don't know how to share 14

years in any less space. If this is not an appropriate use of this list a

apologize. I promise I won't do it again!

Lou

wife to for 20 years, mom to ,14 (complex I and I+III) Jeff,16

(got his license and freedom yesterday - it was easier to send him to

kindergarten than off in a car!) and Greg,10

Please feel free to e-mail me directly or through the list.

marilou@...

[Guest guest]

's Story Lou -

Thanks so much for sharing 's story. I don't know how to explain the

feelings when reading these stories - it heals us to to read them because a

little more of the " alone-ness " melts away, but we grieve all over again as if

we are right there in the room with you. A lot of what you said stings

especially because we have been down the same road of running back and forth

from ICU and appointments only to get disappointment after disappointment. A

few months ago Kennedy had an especially bad episode where her fever went from

nothing to 103 in no time, she started seizing, bit herself before I could get

the block in.......we had been in ICU so many times before that we knew the

drill. You go in, they do MRIs, spinals, CATs, all kinds of blood work, and

then come back and say that she just had a virus which caused fevers which

caused seizures and they don't know why they are so bad and yadda yadda yadda.

Of course, the obligatory two week stay with all kids of inconveniences and

guilty feelings about the other kids. This time we just decided to handle it

ourselves. It was a particular moment in time when Ann and I just looked at

each other and said we wanted her to be at home with her family. If we lost

her, then she would be with Jesus and my Dad and Ann's Mom and no more damned

needles and ventilators and hurting and pain for her. At that point, we would

have hated to lose her but would have rejoiced that her suffering was done, and

all we had to do was wait for our time and then we could finally get to know the

real Kennedy, albeit not on this earth.

So anyway, we have all the meds that ICU has (great to be surrounded by

neighbors who are pharmacists and physicians that I grew up with). I spend

three days in the floor of the living room with her. Our power bill for

hardware must have been 300 bucks but she pulled right out and was back to her

norm a solid week before she ever would have recovered in ICU. So I know

EXACTLY how you feel, only you have traveled much more of the journey than we

have. You've got a lot of guts, and I hope we can follow in your path. Please

kiss for me and tell her that she has a house full of little girls down

in Dixie who think she is just a real sport model. Thanks for the story, and

you hang in there, girl.

Hairston

Kennedy's Dad

Mito Complex III deficiency, vent, g-tube

's Story

This is my first post on this list, although I have been reading it for quite

some time. I think that of all the lists I have tried, this one is most

dedicated to informing and supporting.

I hesitate to tell our story because I don't want to bore anyone. I have

however, been very interested in the stories of others so I will take the chance

that someone might be interested in ours. I'm not nearly as poetic as Kennedy's

dad - but maybe those of you that are just starting out on this journey will see

yet another path that has been traveled.

Reading all of your stories just brought back memories at first. It was

easier to keep my distance. But now I am ready to risk just a little. I keep

thinking - gee -- I should tell them to try this -- or -- I know how that feels.

Even harder to admit is the fact that I hope that writing this is not too

painful. I am one of those moms that has learned how to 'handle' 's

illness. At least on the outside, it seldom affects my day to day life. Let's

just say that I have learned to 'manage' it.

Miraculously, turned 14 on September 3rd . . . an age we thought we

would never see. We hardly knew what to do when 12 came and went and she was

still alive. You see, we had 'prepared' ourselves for her death. And as

horrible as it may sound to you, we didn't know how to handle it when it didn't

happen. It's not like we had a cut-off date or anything...we just figured that

we wouldn't be dealing with puberty and acne. It may sound cold, but we are the

pragmatic type, and after years of testing and degeneration, we decided to focus

on her quality of life. That is the gift that a diagnosis gave us. We finally

quit trying to fix her. Now please don't get me wrong - by my definition,

fixing is very different than responsible and loving parenting - fixing assumes

that she is broken - and fixing assumes that we are done once the fixing is

done. We have learned over time that isn't broken - she is perfect just

the way she is - and that we don't want to fix her. This has not happened

quickly or without heartache.

Some background:

was born a beautiful child with 9/9 Apgars - perfect as can be. With a

very busy two year old brother, Jeff, I was so thankful that she amused herself

so well. I guess I really had this parenting thing down - wasn't I a good

mom-such a quiet baby!!! Well, weeks in the hospital and eventual kidney

surgery at 18 months progressed to speech delay by two and developmental delay

by two and half. The first few times we went back to the developmental

psychologist for 6 month 're-checks' her progress was amazing. The special

pre-school and all the time spent dragging her brother along to speech, OT, and

PT were paying off. We even decided to have another baby. Three days before

Greg was born we made our trip downtown for testing...no gain this time...a one

year loss. Not a huge surprise - I'm a teacher. . .I know child development -

but shattering just the same.

At age 5, a two week stay at Phoenix Children's Hospital's Psychiatric Unit

turned into 13 weeks - partly due to an allergic reaction to Tegretol. It's

funny, when you are a parent of such a demanding child, you just do it...you

don't really recognize what it has done to your life, or the lives of your

family members. As difficult as the separation was (parents are not allowed to

spend the night), it was good for our family. The nurses at the hospital were

exhausted after an 8 hour shift with her. Her autistic traits and hyperactivity

had become so prevalent that she seldom slept, and required constant

supervision. We received counseling, attended a parent group, and by the time

she came home we had started the long, bumpy road toward behavior management

with psychiatric medications. We thought we knew what was wrong and had a

handle on how to 'manage' it.

At age 8 , I came home from a long day of teaching just before Christmas (on

my birthday) to a very lethargic child. I knew right away that this wasn't just

a cold or the flu. Within an hour she was hospitalized and receiving IV fluids.

This began 2 years of hospitalizations and testing that took us to:

a.. Barrow's Neurological Institute (great neurologist, but a negative

(frozen) muscle biopsy result),

b.. UCSD Medical Center (wonderful staff, but a week from hell, with no

psychiatric meds., no sleep, and tons of horrid tests with numerous

'abnormalities' but no answers)

c.. and finally to The Emory Clinic in Atlanta at age 10.

All the intermittent problems she had previously encountered became magnified

and constant. All of a sudden she was in a wheel chair and fed by a g-tube.

There was never one acute moment where she nearly died, she was just slowly

slipping away from us. We thought our hearts would break and we would run out

of tears.

As you probably assume, Emory is where we got our answer - sort of. She has

an OXPHOS disease - Complex I and Complex I + III; elevated organic acids, &

amino acids along with a myriad of other complicated abnormalities. She does

not have an mtDNA deletion or duplication, nor were they able to pinpoint the

mtDNA point mutation. We don't know if I am a carrier or if she has a

spontaneous mutation. Our two boys are symptom free.

Our test results from Dr. Krawiecki and Dr. Shoffner listed numerous yearly

tests to monitor the disease. However, along with her doctors, we made a

conscious decision not to put through any more tests unless she showed a

symptom that might be treatable. Our life as we knew it (living and breathing

doctors & hospitals), was radically changed.

I'd quit my job the summer after got sick. I started trying to get to

know our boys again (then 6 and 12). We went on an incredible Make-a-Wish trip

to Disney World. That trip was life-changing for us, and I recommend such an

experience to all of you. It is awkward at first, but easy to arrange. We saw

the way others see her . . . she glowed and every part of her radiated

her love for all that is Disney. She was truly a princess for a week. Our boys

felt valued and appreciated too - after all- this isn't easy for them either.

Staying at Give Kids the World was great because everyone there was in the same

boat - it was comforting. Learning to receive is much harder than learning to

give - but it is an important lesson for all of us.

In the last four years has thrived. She no longer uses her wheel chair

unless she needs to travel a long distance (like trekking around Disneyland or

the zoo). She eats normally (prefers chocolate cake and Cheetos to salad and

green beans). She still has her Mickey button. We use it for fluids when she is

sick - keeps her out of the hospital for dehydration; medications; and

occasional feedings. I think all children that have to take yucky medications

should come with one! We were scared to death for her to get it (it seemed so

radical) and now we can't imagine life without it. She has actually grown and

some of her hyperactivity has lessened. After 6 years of inclusion in a regular

class with a 1:1 aide she is in a special ed. class and loving it. Last weekend

we had a birthday party with 15 of her special ed. friends ( and her teacher of

course). She was so thrilled. It is also nice to get to know some of the

other special ed. parents.

We have no illusions. still has a terrible disease. Whenever she is

sick or stressed we see radical regression. We know there is no pot of gold at

the end of the rainbow - but we are enjoying the rainbow. We firmly believe

that our decision not to perform unnecessary tests has made a huge difference in

her stress level. We can't pinpoint exactly why she has done so well, but we

know that fatigue and stress - both illness related and life related are

significant factors for her. CoQ10 did not benefit her when we tried it.

It has taken four years to get to the point where I am willing to do a minimum

of doctor-related inquiry again (we have, of course, kept up her well-child care

and treated all illnesses). We asked our neurologist to check with the doctors

at Emory to see if there is any new information or testing to do after 4

years---there isn't. We are going to do some blood work, and she has either

seen or will soon see her endocrinologist, gastroenterologist, psychiatrist and

neurologist. I am still doctor wary - not because of trust, they are wonderful,

but because of stress and burn-out. I fear becoming trapped in the doctor web

again.

I wonder how some of you came to the decision to be tested yourselves.

is our only daughter, so there is no heredity issue - yet at times I would like

to know if I have it - and my boys may develop it...at other times I can't

imagine why I do want to know about something that I can do nothing about. I

wonder if I would be causing future insurance problems if I do get tested and it

is positive. Some days I don't think about it all, and others I think about it

a lot. I would like to put this issue to rest.

My husband and I no longer have the constant, desperate feelings that we once

had. We have our days when we are sad - milestones like her 13th birthday, and

the day her peers started junior high are hard. Her friends from when she was

young baby-sit her now. As strange as that is, it is wonderful because she just

thinks her friend is coming over to play. Her mental retardation is a blessing

in many ways because she doesn't understand that she is sick - her needs are

simple and she is happy most of the time. She makes us laugh and shake our

heads at the same time. She can be the most difficult and most precious child

all in the same minute. We can't imagine life without her - she has made our

family special and unique.

Thank you for letting me share our story. I know it is long and may irritate

some of you. If it does, I am sorry. I don't know how to share 14 years in any

less space. If this is not an appropriate use of this list a apologize. I

promise I won't do it again!

Lou

wife to for 20 years, mom to ,14 (complex I and I+III) Jeff,16 (got

his license and freedom yesterday - it was easier to send him to kindergarten

than off in a car!) and Greg,10

Please feel free to e-mail me directly or through the list.

marilou@...

[Guest guest]

's Story Lou -

Thanks so much for sharing 's story. I don't know how to explain the

feelings when reading these stories - it heals us to to read them because a

little more of the " alone-ness " melts away, but we grieve all over again as if

we are right there in the room with you. A lot of what you said stings

especially because we have been down the same road of running back and forth

from ICU and appointments only to get disappointment after disappointment. A

few months ago Kennedy had an especially bad episode where her fever went from

nothing to 103 in no time, she started seizing, bit herself before I could get

the block in.......we had been in ICU so many times before that we knew the

drill. You go in, they do MRIs, spinals, CATs, all kinds of blood work, and

then come back and say that she just had a virus which caused fevers which

caused seizures and they don't know why they are so bad and yadda yadda yadda.

Of course, the obligatory two week stay with all kids of inconveniences and

guilty feelings about the other kids. This time we just decided to handle it

ourselves. It was a particular moment in time when Ann and I just looked at

each other and said we wanted her to be at home with her family. If we lost

her, then she would be with Jesus and my Dad and Ann's Mom and no more damned

needles and ventilators and hurting and pain for her. At that point, we would

have hated to lose her but would have rejoiced that her suffering was done, and

all we had to do was wait for our time and then we could finally get to know the

real Kennedy, albeit not on this earth.

So anyway, we have all the meds that ICU has (great to be surrounded by

neighbors who are pharmacists and physicians that I grew up with). I spend

three days in the floor of the living room with her. Our power bill for

hardware must have been 300 bucks but she pulled right out and was back to her

norm a solid week before she ever would have recovered in ICU. So I know

EXACTLY how you feel, only you have traveled much more of the journey than we

have. You've got a lot of guts, and I hope we can follow in your path. Please

kiss for me and tell her that she has a house full of little girls down

in Dixie who think she is just a real sport model. Thanks for the story, and

you hang in there, girl.

Hairston

Kennedy's Dad

Mito Complex III deficiency, vent, g-tube

's Story

This is my first post on this list, although I have been reading it for quite

some time. I think that of all the lists I have tried, this one is most

dedicated to informing and supporting.

I hesitate to tell our story because I don't want to bore anyone. I have

however, been very interested in the stories of others so I will take the chance

that someone might be interested in ours. I'm not nearly as poetic as Kennedy's

dad - but maybe those of you that are just starting out on this journey will see

yet another path that has been traveled.

Reading all of your stories just brought back memories at first. It was

easier to keep my distance. But now I am ready to risk just a little. I keep

thinking - gee -- I should tell them to try this -- or -- I know how that feels.

Even harder to admit is the fact that I hope that writing this is not too

painful. I am one of those moms that has learned how to 'handle' 's

illness. At least on the outside, it seldom affects my day to day life. Let's

just say that I have learned to 'manage' it.

Miraculously, turned 14 on September 3rd . . . an age we thought we

would never see. We hardly knew what to do when 12 came and went and she was

still alive. You see, we had 'prepared' ourselves for her death. And as

horrible as it may sound to you, we didn't know how to handle it when it didn't

happen. It's not like we had a cut-off date or anything...we just figured that

we wouldn't be dealing with puberty and acne. It may sound cold, but we are the

pragmatic type, and after years of testing and degeneration, we decided to focus

on her quality of life. That is the gift that a diagnosis gave us. We finally

quit trying to fix her. Now please don't get me wrong - by my definition,

fixing is very different than responsible and loving parenting - fixing assumes

that she is broken - and fixing assumes that we are done once the fixing is

done. We have learned over time that isn't broken - she is perfect just

the way she is - and that we don't want to fix her. This has not happened

quickly or without heartache.

Some background:

was born a beautiful child with 9/9 Apgars - perfect as can be. With a

very busy two year old brother, Jeff, I was so thankful that she amused herself

so well. I guess I really had this parenting thing down - wasn't I a good

mom-such a quiet baby!!! Well, weeks in the hospital and eventual kidney

surgery at 18 months progressed to speech delay by two and developmental delay

by two and half. The first few times we went back to the developmental

psychologist for 6 month 're-checks' her progress was amazing. The special

pre-school and all the time spent dragging her brother along to speech, OT, and

PT were paying off. We even decided to have another baby. Three days before

Greg was born we made our trip downtown for testing...no gain this time...a one

year loss. Not a huge surprise - I'm a teacher. . .I know child development -

but shattering just the same.

At age 5, a two week stay at Phoenix Children's Hospital's Psychiatric Unit

turned into 13 weeks - partly due to an allergic reaction to Tegretol. It's

funny, when you are a parent of such a demanding child, you just do it...you

don't really recognize what it has done to your life, or the lives of your

family members. As difficult as the separation was (parents are not allowed to

spend the night), it was good for our family. The nurses at the hospital were

exhausted after an 8 hour shift with her. Her autistic traits and hyperactivity

had become so prevalent that she seldom slept, and required constant

supervision. We received counseling, attended a parent group, and by the time

she came home we had started the long, bumpy road toward behavior management

with psychiatric medications. We thought we knew what was wrong and had a

handle on how to 'manage' it.

At age 8 , I came home from a long day of teaching just before Christmas (on

my birthday) to a very lethargic child. I knew right away that this wasn't just

a cold or the flu. Within an hour she was hospitalized and receiving IV fluids.

This began 2 years of hospitalizations and testing that took us to:

a.. Barrow's Neurological Institute (great neurologist, but a negative

(frozen) muscle biopsy result),

b.. UCSD Medical Center (wonderful staff, but a week from hell, with no

psychiatric meds., no sleep, and tons of horrid tests with numerous

'abnormalities' but no answers)

c.. and finally to The Emory Clinic in Atlanta at age 10.

All the intermittent problems she had previously encountered became magnified

and constant. All of a sudden she was in a wheel chair and fed by a g-tube.

There was never one acute moment where she nearly died, she was just slowly

slipping away from us. We thought our hearts would break and we would run out

of tears.

As you probably assume, Emory is where we got our answer - sort of. She has

an OXPHOS disease - Complex I and Complex I + III; elevated organic acids, &

amino acids along with a myriad of other complicated abnormalities. She does

not have an mtDNA deletion or duplication, nor were they able to pinpoint the

mtDNA point mutation. We don't know if I am a carrier or if she has a

spontaneous mutation. Our two boys are symptom free.

Our test results from Dr. Krawiecki and Dr. Shoffner listed numerous yearly

tests to monitor the disease. However, along with her doctors, we made a

conscious decision not to put through any more tests unless she showed a

symptom that might be treatable. Our life as we knew it (living and breathing

doctors & hospitals), was radically changed.

I'd quit my job the summer after got sick. I started trying to get to

know our boys again (then 6 and 12). We went on an incredible Make-a-Wish trip

to Disney World. That trip was life-changing for us, and I recommend such an

experience to all of you. It is awkward at first, but easy to arrange. We saw

the way others see her . . . she glowed and every part of her radiated

her love for all that is Disney. She was truly a princess for a week. Our boys

felt valued and appreciated too - after all- this isn't easy for them either.

Staying at Give Kids the World was great because everyone there was in the same

boat - it was comforting. Learning to receive is much harder than learning to

give - but it is an important lesson for all of us.

In the last four years has thrived. She no longer uses her wheel chair

unless she needs to travel a long distance (like trekking around Disneyland or

the zoo). She eats normally (prefers chocolate cake and Cheetos to salad and

green beans). She still has her Mickey button. We use it for fluids when she is

sick - keeps her out of the hospital for dehydration; medications; and

occasional feedings. I think all children that have to take yucky medications

should come with one! We were scared to death for her to get it (it seemed so

radical) and now we can't imagine life without it. She has actually grown and

some of her hyperactivity has lessened. After 6 years of inclusion in a regular

class with a 1:1 aide she is in a special ed. class and loving it. Last weekend

we had a birthday party with 15 of her special ed. friends ( and her teacher of

course). She was so thrilled. It is also nice to get to know some of the

other special ed. parents.

We have no illusions. still has a terrible disease. Whenever she is

sick or stressed we see radical regression. We know there is no pot of gold at

the end of the rainbow - but we are enjoying the rainbow. We firmly believe

that our decision not to perform unnecessary tests has made a huge difference in

her stress level. We can't pinpoint exactly why she has done so well, but we

know that fatigue and stress - both illness related and life related are

significant factors for her. CoQ10 did not benefit her when we tried it.

It has taken four years to get to the point where I am willing to do a minimum

of doctor-related inquiry again (we have, of course, kept up her well-child care

and treated all illnesses). We asked our neurologist to check with the doctors

at Emory to see if there is any new information or testing to do after 4

years---there isn't. We are going to do some blood work, and she has either

seen or will soon see her endocrinologist, gastroenterologist, psychiatrist and

neurologist. I am still doctor wary - not because of trust, they are wonderful,

but because of stress and burn-out. I fear becoming trapped in the doctor web

again.

I wonder how some of you came to the decision to be tested yourselves.

is our only daughter, so there is no heredity issue - yet at times I would like

to know if I have it - and my boys may develop it...at other times I can't

imagine why I do want to know about something that I can do nothing about. I

wonder if I would be causing future insurance problems if I do get tested and it

is positive. Some days I don't think about it all, and others I think about it

a lot. I would like to put this issue to rest.

My husband and I no longer have the constant, desperate feelings that we once

had. We have our days when we are sad - milestones like her 13th birthday, and

the day her peers started junior high are hard. Her friends from when she was

young baby-sit her now. As strange as that is, it is wonderful because she just

thinks her friend is coming over to play. Her mental retardation is a blessing

in many ways because she doesn't understand that she is sick - her needs are

simple and she is happy most of the time. She makes us laugh and shake our

heads at the same time. She can be the most difficult and most precious child

all in the same minute. We can't imagine life without her - she has made our

family special and unique.

Thank you for letting me share our story. I know it is long and may irritate

some of you. If it does, I am sorry. I don't know how to share 14 years in any

less space. If this is not an appropriate use of this list a apologize. I

promise I won't do it again!

Lou

wife to for 20 years, mom to ,14 (complex I and I+III) Jeff,16 (got

his license and freedom yesterday - it was easier to send him to kindergarten

than off in a car!) and Greg,10

Please feel free to e-mail me directly or through the list.

marilou@...

[Guest guest]

,

I truly appreciate your story and am so comforted by these words:

It was a particular moment in time when Ann and I just looked at each other

and said we wanted her to be at home with her family. If we lost her, then

she would be with Jesus and my Dad and Ann's Mom and no more damned needles

and ventilators and hurting and pain for her. At that point, we would have

hated to lose her but would have rejoiced that her suffering was done, and

all we had to do was wait for our time and then we could finally get to know

the real Kennedy, albeit not on this earth.

For so long we felt like we were on a holding pattern, waiting for to

die. It was almost as if that would be the signal for us to get on with out

lives. . .anything less than superhuman attention for her would be inhuman.

We really did have to get to a point where we decided that losing her was

O.K. if that meant that she could have a real quality of life and be home

with us. I do so much of her medical stuff now - things that we used to

hospitalize her for. I never wanted to be a nurse (still don't), but I'll

do just about anything to keep her out of the hospital. Lucky for me, it

isn't because we had poor care, but more because of what it does to all of

us in the family - especially . Whatever 's purpose in life -

she is surely fulfilling it each and every day. I really have come to

believe that a short life is not always a tragedy - it is just a different

path. Of course, is still alive and kicking - so one could say that

I have no idea what I am talking about - and they are probably right.

However, this thought process has at least allowed us to get on with life,

taken pressure off of , and provided the most balanced home experience

we can, under the circumstances, for our boys. Neglect is certainly not

part of our plan - just careful choices.

Try to take care of yourselves too...it is so easy to wake up one day

totally drained with nothing left to give. It seems like these feelings

come in stages and I think it is really important to pay attention to those

feelings and let someone else take over for a bit.

Thanks for your thoughts, and I am so glad she came out of the experience

with flying colors.

Please kiss for me and tell her that she has a house full of little

girls down in Dixie who think she is just a real sport model.

Consider it done!

ML

--

Lou

mom to ,14 Complex I and III; Jeff,16 and Greg,10 (no symptoms)