Re: A newcomer to the group!

[Guest guest]

Hi,

Just wanted to say that our kids sound a lot alike and I'm in that same waiting situation! We see Shoffner on Jan 15 and 16th for skin, muscle biopsy and CSF evals to try to find out what is going on with our almost 3 year old, Asher. We've been dealing with the low muscle tone since he was around 9 months old (it was there before but not something I really woke up to until he was 9 months old). No one called it cerebral palsy, though. Does your son have some spasticity with his muscles? Is that why they called it CP? I've heard that CP is another "wastebasket" diagnosis when it comes to low tone - sort of like "benign congenital hypotonia". My son has been dealing witht the failure to thrive issues for the last 3 months and in December we were ounces away from an ng tube or g tube. He will be weighed again Tuesday. We still don't know if he'll need some sort of tube feeding.

How is your son cognitively? Did you have to keep the ng tube in? How was your visit with Dr. Shoffner?

Anne R

[Guest guest]

Hi and Welcome. My son Wyatt was diagnosed with CP at 6 months.

Someone else had mentioned that it is a " wastebasket " or catch-all

when the doctors are unsure. I would agree. My son will turn 5

this February (WOW, I can't believe that!) and he was finally

diagnosed with Complex I Mito at age 4. The diagnosis was done thru

a skin biopsy. On the 19th of this month he will be having a

feeding tube put in, due to failure to gain weight and difficulties

with meds when he is ill. At that time we will also be having a

muscle biopsy done to confirm the diagnosis.

I'm glad you found us. If you have any questions just ask.

Geri-Anne and Wyatt, Complex I-

-- In Mito , " britlass31701 "

wrote:

> Hi everyone,

>

> Mitochondrial disorders is a big question mark for us at the

moment.

> My son Charlie is 3 years old, he was diagnosed with cerebal palsy

at

> 8 months old. He has very low muscle tone which seems to be

getting

> worse. November 2002 he was in the hospital for failing to thrive,

> his doctor informed me that Charlie had something else going on

> medically as well as the cerebal palsy and he would die when he

> reached 50 pounds in weight.

> December 2003 we were in the hospital for 2 weeks for

malnutrition.

> Charlie refused to eat, a g-tube was put in and lots of labs

done.

> We were then transfered to Atlanta, GA for a muscle and skin

biopsy.

> A spinal tap was also done and lots more blood work.

> He had a EEG and a MRI, the MRI showed deteriation of the grey

matter

> on both lobes and three other areas.

> We saw three neurologists, one said he was not concerned because

> hospital's have different MRI machines with different imaging.

> Needless to say I was frustrated because no one was answering my

> questions. I really think that the neurologist's don't know.

> This is such an emotional roller coaster, I'm a single mom with

> another son who has autism. We won't get the results from the

biopsy

> until Feb or March. Any advice or help would be appreciated!

[Guest guest]

Welcome to the group! You have come to a great place for support and advice. Hang in there waiting for the biopsy results! (My girls were also diagnosed by Dr. Schoffner) Good luck in your journey!

Kim - Mom to and Lindsey (2) Partial Complex I

A newcomer to the group!

Hi everyone,Mitochondrial disorders is a big question mark for us at the moment. My son Charlie is 3 years old, he was diagnosed with cerebal palsy at 8 months old. He has very low muscle tone which seems to be getting worse. November 2002 he was in the hospital for failing to thrive, his doctor informed me that Charlie had something else going on medically as well as the cerebal palsy and he would die when he reached 50 pounds in weight.December 2003 we were in the hospital for 2 weeks for malnutrition. Charlie refused to eat, a g-tube was put in and lots of labs done. We were then transfered to Atlanta, GA for a muscle and skin biopsy. A spinal tap was also done and lots more blood work.He had a EEG and a MRI, the MRI showed deteriation of the grey matter on both lobes and three other areas.We saw three neurologists, one said he was not concerned because hospital's have different MRI machines with different imaging. Needless to say I was frustrated because no one was answering my questions. I really think that the neurologist's don't know.This is such an emotional roller coaster, I'm a single mom with another son who has autism. We won't get the results from the biopsy until Feb or March. Any advice or help would be appreciated!Please contact mito-owner with any problems or questions.

[Guest guest]

Welcome to the group, I am sorry you have to deal with these horrible

problems. I am sorry that you have to deal with it alone. It is hard

enough for any couple! I agree with someone else, I've never heard any one

told that at a certain weight something will happen. You will find that

even the best mito docs usually will not make prognosis predictions. There

are just too many variables. We really just need to take it a day at a

time.

I'm glad you're here, there are so many that know specific things re:

specific problems, i.e. the g-tubes. I don't have experience in that area,

knock on wood. I have two boys, age 12 and 7 who both have mito. It is so

hard to deal with when both of your kids have problems. I hope we can

support you.

Cindy, mom to Seth and Ben (both mito)

A newcomer to the group!

Hi everyone,

Mitochondrial disorders is a big question mark for us at the moment.

My son Charlie is 3 years old, he was diagnosed with cerebal palsy at

8 months old. He has very low muscle tone which seems to be getting

worse. November 2002 he was in the hospital for failing to thrive,

his doctor informed me that Charlie had something else going on

medically as well as the cerebal palsy and he would die when he

reached 50 pounds in weight.

December 2003 we were in the hospital for 2 weeks for malnutrition.

Charlie refused to eat, a g-tube was put in and lots of labs done.

We were then transfered to Atlanta, GA for a muscle and skin biopsy.

A spinal tap was also done and lots more blood work.

He had a EEG and a MRI, the MRI showed deteriation of the grey matter

on both lobes and three other areas.

We saw three neurologists, one said he was not concerned because

hospital's have different MRI machines with different imaging.

Needless to say I was frustrated because no one was answering my

questions. I really think that the neurologist's don't know.

This is such an emotional roller coaster, I'm a single mom with

another son who has autism. We won't get the results from the biopsy

until Feb or March. Any advice or help would be appreciated!

[Guest guest]

Welcome to the group, I am sorry you have to deal with these horrible

problems. I am sorry that you have to deal with it alone. It is hard

enough for any couple! I agree with someone else, I've never heard any one

told that at a certain weight something will happen. You will find that

even the best mito docs usually will not make prognosis predictions. There

are just too many variables. We really just need to take it a day at a

time.

I'm glad you're here, there are so many that know specific things re:

specific problems, i.e. the g-tubes. I don't have experience in that area,

knock on wood. I have two boys, age 12 and 7 who both have mito. It is so

hard to deal with when both of your kids have problems. I hope we can

support you.

Cindy, mom to Seth and Ben (both mito)

A newcomer to the group!

Hi everyone,

Mitochondrial disorders is a big question mark for us at the moment.

My son Charlie is 3 years old, he was diagnosed with cerebal palsy at

8 months old. He has very low muscle tone which seems to be getting

worse. November 2002 he was in the hospital for failing to thrive,

his doctor informed me that Charlie had something else going on

medically as well as the cerebal palsy and he would die when he

reached 50 pounds in weight.

December 2003 we were in the hospital for 2 weeks for malnutrition.

Charlie refused to eat, a g-tube was put in and lots of labs done.

We were then transfered to Atlanta, GA for a muscle and skin biopsy.

A spinal tap was also done and lots more blood work.

He had a EEG and a MRI, the MRI showed deteriation of the grey matter

on both lobes and three other areas.

We saw three neurologists, one said he was not concerned because

hospital's have different MRI machines with different imaging.

Needless to say I was frustrated because no one was answering my

questions. I really think that the neurologist's don't know.

This is such an emotional roller coaster, I'm a single mom with

another son who has autism. We won't get the results from the biopsy

until Feb or March. Any advice or help would be appreciated!