RE: Not sure if daughter could have mito/metabolic disorder

[Guest guest]

I think the genetic test might find out whether she has mito disorder. You know why and then you should know how to take care of her. ph YuHong Kong-----Original Message-----From: deblparker2002 Sent: Saturday, December 20, 2003 8:29 AMTo: Mito Subject: Not sure if daughter could have mito/metabolic disorderHi I really need to get some information and was hoping that someone on this board could help. My daughter is 20 months old. She was diagnosed with hypotonia and is not walking yet. She is able to roll, sit, crawl and kneel very well. She can stand if she is holding onto something.In our quest for a diagnosis, we did blood tests and her lactate and pyruvate came back slightly elevated. Her lactate was 2.3 (I believe the normal range goes to 2.0) and her pyruvate was .083 (I believe the normal range goes to .08. So, she is not too much over the normal range but the doctor seems to be very concerned and thinks it might be a mito/metabolic disorder. We retested her blood to make sure it wasn't a blood sample error and it came back slightly elevated the second time too.She has no other symptoms. She doesn't have any seizures or any signs of brain abnormalities. She babbles non stop and has about 15 words. She doesn't have any muscle weakness in her eyes/face/hands. She has excellent fine motor skills. She has no feeding or respiratory problems. The only muscle weakness seems to be in her trunk.The doctor wants to do an EMG. However, aren't there other tests she would need to do to diagnose mito/metabolic problems? I know there is the muscle biopsy. Are there other tests?Please let me know if you think the blood tests results and her hypotonia could mean mito/metabolic disorders? What is the difference between the two?I'm trying to learn as much about this as possible and would appreciate any replies. Thank you.Please contact mito-owner with any problems or questions.

[Guest guest]

Deb gave you some good information. I would like to add our

experience. All of Wyatt's blood work always came back normal or on

the high side of normal. The doctors finally decided to wait until

he was ill and then do blood tests. That is when the blood work

come back high. That is what lead us to mito. We had a skin biopsy

done that stated he had Complex I. We will be having a muscle

biopsy done in January to confirm the diagnosis. Good Luck and I

hope you find the answers you are looking for.

Geri-Anne and Wyatt, Complex I

> Hi

>

> I really need to get some information and was hoping that someone

on

> this board could help. My daughter is 20 months old. She was

> diagnosed with hypotonia and is not walking yet. She is able to

> roll, sit, crawl and kneel very well. She can stand if she is

> holding onto something.

>

> In our quest for a diagnosis, we did blood tests and her lactate

and

> pyruvate came back slightly elevated. Her lactate was 2.3 (I

believe

> the normal range goes to 2.0) and her pyruvate was .083 (I believe

> the normal range goes to .08. So, she is not too much over the

> normal range but the doctor seems to be very concerned and thinks

it

> might be a mito/metabolic disorder. We retested her blood to make

> sure it wasn't a blood sample error and it came back slightly

> elevated the second time too.

>

> She has no other symptoms. She doesn't have any seizures or any

> signs of brain abnormalities. She babbles non stop and has about

15

> words. She doesn't have any muscle weakness in her

eyes/face/hands.

> She has excellent fine motor skills. She has no feeding or

> respiratory problems. The only muscle weakness seems to be in her

> trunk.

>

> The doctor wants to do an EMG. However, aren't there other tests

she

> would need to do to diagnose mito/metabolic problems? I know

there

> is the muscle biopsy. Are there other tests?

>

> Please let me know if you think the blood tests results and her

> hypotonia could mean mito/metabolic disorders? What is the

> difference between the two?

>

> I'm trying to learn as much about this as possible and would

> appreciate any replies. Thank you.

[Guest guest]

Deb gave you some good information. I would like to add our

experience. All of Wyatt's blood work always came back normal or on

the high side of normal. The doctors finally decided to wait until

he was ill and then do blood tests. That is when the blood work

come back high. That is what lead us to mito. We had a skin biopsy

done that stated he had Complex I. We will be having a muscle

biopsy done in January to confirm the diagnosis. Good Luck and I

hope you find the answers you are looking for.

Geri-Anne and Wyatt, Complex I

> Hi

>

> I really need to get some information and was hoping that someone

on

> this board could help. My daughter is 20 months old. She was

> diagnosed with hypotonia and is not walking yet. She is able to

> roll, sit, crawl and kneel very well. She can stand if she is

> holding onto something.

>

> In our quest for a diagnosis, we did blood tests and her lactate

and

> pyruvate came back slightly elevated. Her lactate was 2.3 (I

believe

> the normal range goes to 2.0) and her pyruvate was .083 (I believe

> the normal range goes to .08. So, she is not too much over the

> normal range but the doctor seems to be very concerned and thinks

it

> might be a mito/metabolic disorder. We retested her blood to make

> sure it wasn't a blood sample error and it came back slightly

> elevated the second time too.

>

> She has no other symptoms. She doesn't have any seizures or any

> signs of brain abnormalities. She babbles non stop and has about

15

> words. She doesn't have any muscle weakness in her

eyes/face/hands.

> She has excellent fine motor skills. She has no feeding or

> respiratory problems. The only muscle weakness seems to be in her

> trunk.

>

> The doctor wants to do an EMG. However, aren't there other tests

she

> would need to do to diagnose mito/metabolic problems? I know

there

> is the muscle biopsy. Are there other tests?

>

> Please let me know if you think the blood tests results and her

> hypotonia could mean mito/metabolic disorders? What is the

> difference between the two?

>

> I'm trying to learn as much about this as possible and would

> appreciate any replies. Thank you.

[Guest guest]

Deb gave you some good information. I would like to add our

experience. All of Wyatt's blood work always came back normal or on

the high side of normal. The doctors finally decided to wait until

he was ill and then do blood tests. That is when the blood work

come back high. That is what lead us to mito. We had a skin biopsy

done that stated he had Complex I. We will be having a muscle

biopsy done in January to confirm the diagnosis. Good Luck and I

hope you find the answers you are looking for.

Geri-Anne and Wyatt, Complex I

> Hi

>

> I really need to get some information and was hoping that someone

on

> this board could help. My daughter is 20 months old. She was

> diagnosed with hypotonia and is not walking yet. She is able to

> roll, sit, crawl and kneel very well. She can stand if she is

> holding onto something.

>

> In our quest for a diagnosis, we did blood tests and her lactate

and

> pyruvate came back slightly elevated. Her lactate was 2.3 (I

believe

> the normal range goes to 2.0) and her pyruvate was .083 (I believe

> the normal range goes to .08. So, she is not too much over the

> normal range but the doctor seems to be very concerned and thinks

it

> might be a mito/metabolic disorder. We retested her blood to make

> sure it wasn't a blood sample error and it came back slightly

> elevated the second time too.

>

> She has no other symptoms. She doesn't have any seizures or any

> signs of brain abnormalities. She babbles non stop and has about

15

> words. She doesn't have any muscle weakness in her

eyes/face/hands.

> She has excellent fine motor skills. She has no feeding or

> respiratory problems. The only muscle weakness seems to be in her

> trunk.

>

> The doctor wants to do an EMG. However, aren't there other tests

she

> would need to do to diagnose mito/metabolic problems? I know

there

> is the muscle biopsy. Are there other tests?

>

> Please let me know if you think the blood tests results and her

> hypotonia could mean mito/metabolic disorders? What is the

> difference between the two?

>

> I'm trying to learn as much about this as possible and would

> appreciate any replies. Thank you.