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

[Guest guest]

Hi there

welcome to the group...I think the general rule in mito medicine is if the child has three or more organ systems involved...which does include muscles and nerves...does she have any other health problems besides hypotonia. Most doctors wouldn't get that upset about this...there must be something else...

My sons labs were always normal but he was dxed by muscle bx...they can do a skin bx and do an assay...which might tell you something but wont give you the clearer info muscle will, and if you get a negative it doesn't mean she doens't have mito.

welcome...hope you find the answers you are looking for...

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 4 with Aspergers Syndrome and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.comhttp://health.groups.yahoo.com/group/NurturingHeavensKids/

[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]

Dear Concerned mom,

I believe your 20 month old daughter could have mito. I hope she does not, but I would let the doctors do all the tests possible. With so few symptoms, you are very lucky to have found a doctor to consider mito and willing to test for it, since most doctors have no clue. For more information, you can visit my daughter's website. Meanwhile, my daughter Samya had very borderlind developmental delays. In fact, she sat up, stood uyp, walked etc. and crawled. She walked late and that was the first real sign something was wrong, since walking late did not happen in our family. She spoke pretty well, had slight hypotonia (never anything real obvious),never had a seizure, or respiratory problems. She had a very serious form of mito and died at age 8 in only 2 months. She looke perfectly healthy and her diagnosis was missed by many doctors, even specialists along the way. Like many mito kids, the diagnosis is missed because they seem so well with only slight delays and then suddenly they quickly lose skills and deterioration can happen rapidly. So far, the only symptom that seems real concerning to me is the blood elevations. My daughter never even had any acidosis in blood, even on her deathbed. There is no sense, rhyme or reason as to why some children have some symptoms, and not others. My advice is pursue this and I hope you can rule out mito. I wish to God along the path, I had run into One doctor that thought like yours. Good luck in your search. Love,

Suhad Haddad, Mom to Samya (Died 12-10-02 of Leigh's Synd.) & Leanna with same disease.

Samya's Memorial Site: www.Samya.org

Email: Suhad1970@...

Alt Email: Suhad@...

AiM Chat: Suhad1970

-- Not sure if daughter could have mito/metabolic disorder

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.Please contact mito-owner with any problems or questions.

[Guest guest]

Dear Concerned mom,

I believe your 20 month old daughter could have mito. I hope she does not, but I would let the doctors do all the tests possible. With so few symptoms, you are very lucky to have found a doctor to consider mito and willing to test for it, since most doctors have no clue. For more information, you can visit my daughter's website. Meanwhile, my daughter Samya had very borderlind developmental delays. In fact, she sat up, stood uyp, walked etc. and crawled. She walked late and that was the first real sign something was wrong, since walking late did not happen in our family. She spoke pretty well, had slight hypotonia (never anything real obvious),never had a seizure, or respiratory problems. She had a very serious form of mito and died at age 8 in only 2 months. She looke perfectly healthy and her diagnosis was missed by many doctors, even specialists along the way. Like many mito kids, the diagnosis is missed because they seem so well with only slight delays and then suddenly they quickly lose skills and deterioration can happen rapidly. So far, the only symptom that seems real concerning to me is the blood elevations. My daughter never even had any acidosis in blood, even on her deathbed. There is no sense, rhyme or reason as to why some children have some symptoms, and not others. My advice is pursue this and I hope you can rule out mito. I wish to God along the path, I had run into One doctor that thought like yours. Good luck in your search. Love,

Suhad Haddad, Mom to Samya (Died 12-10-02 of Leigh's Synd.) & Leanna with same disease.

Samya's Memorial Site: www.Samya.org

Email: Suhad1970@...

Alt Email: Suhad@...

AiM Chat: Suhad1970

-- Not sure if daughter could have mito/metabolic disorder

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.Please contact mito-owner with any problems or questions.

[Guest guest]

Dear Concerned mom,

I believe your 20 month old daughter could have mito. I hope she does not, but I would let the doctors do all the tests possible. With so few symptoms, you are very lucky to have found a doctor to consider mito and willing to test for it, since most doctors have no clue. For more information, you can visit my daughter's website. Meanwhile, my daughter Samya had very borderlind developmental delays. In fact, she sat up, stood uyp, walked etc. and crawled. She walked late and that was the first real sign something was wrong, since walking late did not happen in our family. She spoke pretty well, had slight hypotonia (never anything real obvious),never had a seizure, or respiratory problems. She had a very serious form of mito and died at age 8 in only 2 months. She looke perfectly healthy and her diagnosis was missed by many doctors, even specialists along the way. Like many mito kids, the diagnosis is missed because they seem so well with only slight delays and then suddenly they quickly lose skills and deterioration can happen rapidly. So far, the only symptom that seems real concerning to me is the blood elevations. My daughter never even had any acidosis in blood, even on her deathbed. There is no sense, rhyme or reason as to why some children have some symptoms, and not others. My advice is pursue this and I hope you can rule out mito. I wish to God along the path, I had run into One doctor that thought like yours. Good luck in your search. Love,

Suhad Haddad, Mom to Samya (Died 12-10-02 of Leigh's Synd.) & Leanna with same disease.

Samya's Memorial Site: www.Samya.org

Email: Suhad1970@...

Alt Email: Suhad@...

AiM Chat: Suhad1970

-- Not sure if daughter could have mito/metabolic disorder

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.Please contact mito-owner with any problems or questions.

[Guest guest]

There is a list of tests for Mito on the UMDF website at <http:umdf.org/>.

You will finds lots of information and stuff to print out and take to your

doctors there.

Jean

deblparker2002 wrote:

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.

Please contact mito-owner with any problems or questions.

[Guest guest]

There is a list of tests for Mito on the UMDF website at <http:umdf.org/>.

You will finds lots of information and stuff to print out and take to your

doctors there.

Jean

deblparker2002 wrote:

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.

Please contact mito-owner with any problems or questions.