Re: Help! Suspected mitochondrial disorder

[Guest guest]

, It's still possible Liam has a mitochondrial disorder. There are

quite a few on the list who have the dx even without conclusive test

results. Was the muscle biopsy fresh or frozen? I have heard of kids

having negative results with frozen, but positive with fresh.

My son is 4 and quite a lot like your son. Very small, very delayed

(nonverbal, nonmobile, cognitively very slow). He weighs 29 pounds. He

does have some other issues though--very severe reflux (we are getting the

Nissen fundoplication early in the New Year). And, he has eye problems. No

lactic acidosis. Some minor physical anomalies.

Sorry for the jumbled email. I'm in a rush!

Lori and (4 1/2, complex I and IV)

Help! Suspected mitochondrial disorder

> Hi I just found this group and hoped someone here might be able to

> help. My son is 3 years old and has an undiagnosed disorder. He began

> having myoclonic seizures at 5 months and was put on zonegran, which

> has kept them under control, around 8 months. He has had metabolic

> testing done, including a muscle mito test - all normal. He has had 3

> brain MRI scans - normal results. He was born with undescended

> testes - they were still in the abdomen and were underdeveloped. He

> is extremely delayed - cannot crawl, walk, or talk. He did babble as

> a 5 month old but that is the only part that regressed. I am unsure

> of whether it is from the seizures, from the zonegran, or from both.

> He now squeals quite a bit, so we're hoping that might develop into

> some other baby type sounds. He didn't start using his hands until he

> was 13 months old. He has oral motor problems and sensory issues. He

> does continue to make very slow progress. He sits up well and is even

> using the potty. We got him in a clinical study at the NIH in

> land and even their tests (which included fragile x and Rett

> syndrome) came up negative. He is also quite small for his age (25

> lbs and 34 inches (though he was 9 lb 4 oz when born). They suspect

> mitochondrial disorder of some kind.

>

> Does anybody have kids with mito disorder that are like my son? I was

> first told mitochondrial disorders are fatal, but since found out

> that is not true. Besides the above, Liam doesn't have other things

> I've seen described for most known mitochondrial disorders - no

> lactic acidosis, no eye problems, hearing problems, intestinal

> problems, or heart problems.

>

> Thanks in advance,

>

>

>

>

>

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

>

>

[Guest guest]

, It's still possible Liam has a mitochondrial disorder. There are

quite a few on the list who have the dx even without conclusive test

results. Was the muscle biopsy fresh or frozen? I have heard of kids

having negative results with frozen, but positive with fresh.

My son is 4 and quite a lot like your son. Very small, very delayed

(nonverbal, nonmobile, cognitively very slow). He weighs 29 pounds. He

does have some other issues though--very severe reflux (we are getting the

Nissen fundoplication early in the New Year). And, he has eye problems. No

lactic acidosis. Some minor physical anomalies.

Sorry for the jumbled email. I'm in a rush!

Lori and (4 1/2, complex I and IV)

Help! Suspected mitochondrial disorder

> Hi I just found this group and hoped someone here might be able to

> help. My son is 3 years old and has an undiagnosed disorder. He began

> having myoclonic seizures at 5 months and was put on zonegran, which

> has kept them under control, around 8 months. He has had metabolic

> testing done, including a muscle mito test - all normal. He has had 3

> brain MRI scans - normal results. He was born with undescended

> testes - they were still in the abdomen and were underdeveloped. He

> is extremely delayed - cannot crawl, walk, or talk. He did babble as

> a 5 month old but that is the only part that regressed. I am unsure

> of whether it is from the seizures, from the zonegran, or from both.

> He now squeals quite a bit, so we're hoping that might develop into

> some other baby type sounds. He didn't start using his hands until he

> was 13 months old. He has oral motor problems and sensory issues. He

> does continue to make very slow progress. He sits up well and is even

> using the potty. We got him in a clinical study at the NIH in

> land and even their tests (which included fragile x and Rett

> syndrome) came up negative. He is also quite small for his age (25

> lbs and 34 inches (though he was 9 lb 4 oz when born). They suspect

> mitochondrial disorder of some kind.

>

> Does anybody have kids with mito disorder that are like my son? I was

> first told mitochondrial disorders are fatal, but since found out

> that is not true. Besides the above, Liam doesn't have other things

> I've seen described for most known mitochondrial disorders - no

> lactic acidosis, no eye problems, hearing problems, intestinal

> problems, or heart problems.

>

> Thanks in advance,

>

>

>

>

>

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

>

>

[Guest guest]

, It's still possible Liam has a mitochondrial disorder. There are

quite a few on the list who have the dx even without conclusive test

results. Was the muscle biopsy fresh or frozen? I have heard of kids

having negative results with frozen, but positive with fresh.

My son is 4 and quite a lot like your son. Very small, very delayed

(nonverbal, nonmobile, cognitively very slow). He weighs 29 pounds. He

does have some other issues though--very severe reflux (we are getting the

Nissen fundoplication early in the New Year). And, he has eye problems. No

lactic acidosis. Some minor physical anomalies.

Sorry for the jumbled email. I'm in a rush!

Lori and (4 1/2, complex I and IV)

Help! Suspected mitochondrial disorder

> Hi I just found this group and hoped someone here might be able to

> help. My son is 3 years old and has an undiagnosed disorder. He began

> having myoclonic seizures at 5 months and was put on zonegran, which

> has kept them under control, around 8 months. He has had metabolic

> testing done, including a muscle mito test - all normal. He has had 3

> brain MRI scans - normal results. He was born with undescended

> testes - they were still in the abdomen and were underdeveloped. He

> is extremely delayed - cannot crawl, walk, or talk. He did babble as

> a 5 month old but that is the only part that regressed. I am unsure

> of whether it is from the seizures, from the zonegran, or from both.

> He now squeals quite a bit, so we're hoping that might develop into

> some other baby type sounds. He didn't start using his hands until he

> was 13 months old. He has oral motor problems and sensory issues. He

> does continue to make very slow progress. He sits up well and is even

> using the potty. We got him in a clinical study at the NIH in

> land and even their tests (which included fragile x and Rett

> syndrome) came up negative. He is also quite small for his age (25

> lbs and 34 inches (though he was 9 lb 4 oz when born). They suspect

> mitochondrial disorder of some kind.

>

> Does anybody have kids with mito disorder that are like my son? I was

> first told mitochondrial disorders are fatal, but since found out

> that is not true. Besides the above, Liam doesn't have other things

> I've seen described for most known mitochondrial disorders - no

> lactic acidosis, no eye problems, hearing problems, intestinal

> problems, or heart problems.

>

> Thanks in advance,

>

>

>

>

>

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

>

>

[Guest guest]

Dear ,

I don't know if I will be of much help. I want you to know that mitochondrial disease, even severe fatal forms, may not be typical. My daughte who died of mito at age 8 and a a half never ever had any acidosis, not even as she was dying in ICU, never had a seizure and all her problems were not severe. She developed really well, considering she had mito, just delayed with everything. No one ever knew anything was wrong with her by looking at her or talking to her. We did MRI too and that was normal, and all blood work was always normal. She went undiagnosed all her life until the last 2 weeks of it did mito even become a possibility. I cannot stress to you enough how atypical symptoms can be in different children. There are no picture perfect textbook children with mito. The only test that ever showed up was a blood mitochondrial DNA test. In fact, her brain MRI only showed mito after she was intubated and dying. Do investigate and don't let doctors say "Oh they don't look like they have mito?" My daughter was misdiagnosed because according to doctors, "she looke so good, we never could have suspected her of having such a fatal form like Leigh's" Well, they were wrong, she had a very bad form and died very quickly (In less than 2 months) She was born with an inguinal hernis, and had GI problems, etc. She had similar symtptoms as your child. For more info. you can visit my daughter's website. Good luck and don't ever give up on looking. Doctors don't know much about mito anyways to begin with. They are just learning from our children. I hope your child does not have mito.

God bless,

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

-- Help! Suspected mitochondrial disorder

Hi I just found this group and hoped someone here might be able to help. My son is 3 years old and has an undiagnosed disorder. He began having myoclonic seizures at 5 months and was put on zonegran, which has kept them under control, around 8 months. He has had metabolic testing done, including a muscle mito test - all normal. He has had 3 brain MRI scans - normal results. He was born with undescended testes - they were still in the abdomen and were underdeveloped. He is extremely delayed - cannot crawl, walk, or talk. He did babble as a 5 month old but that is the only part that regressed. I am unsure of whether it is from the seizures, from the zonegran, or from both. He now squeals quite a bit, so we're hoping that might develop into some other baby type sounds. He didn't start using his hands until he was 13 months old. He has oral motor problems and sensory issues. He does continue to make very slow progress. He sits up well and is even using the potty. We got him in a clinical study at the NIH in land and even their tests (which included fragile x and Rett syndrome) came up negative. He is also quite small for his age (25 lbs and 34 inches (though he was 9 lb 4 oz when born). They suspect mitochondrial disorder of some kind. Does anybody have kids with mito disorder that are like my son? I was first told mitochondrial disorders are fatal, but since found out that is not true. Besides the above, Liam doesn't have other things I've seen described for most known mitochondrial disorders - no lactic acidosis, no eye problems, hearing problems, intestinal problems, or heart problems. Thanks in advance,Please contact mito-owner with any problems or questions.

[Guest guest]

Dear ,

I don't know if I will be of much help. I want you to know that mitochondrial disease, even severe fatal forms, may not be typical. My daughte who died of mito at age 8 and a a half never ever had any acidosis, not even as she was dying in ICU, never had a seizure and all her problems were not severe. She developed really well, considering she had mito, just delayed with everything. No one ever knew anything was wrong with her by looking at her or talking to her. We did MRI too and that was normal, and all blood work was always normal. She went undiagnosed all her life until the last 2 weeks of it did mito even become a possibility. I cannot stress to you enough how atypical symptoms can be in different children. There are no picture perfect textbook children with mito. The only test that ever showed up was a blood mitochondrial DNA test. In fact, her brain MRI only showed mito after she was intubated and dying. Do investigate and don't let doctors say "Oh they don't look like they have mito?" My daughter was misdiagnosed because according to doctors, "she looke so good, we never could have suspected her of having such a fatal form like Leigh's" Well, they were wrong, she had a very bad form and died very quickly (In less than 2 months) She was born with an inguinal hernis, and had GI problems, etc. She had similar symtptoms as your child. For more info. you can visit my daughter's website. Good luck and don't ever give up on looking. Doctors don't know much about mito anyways to begin with. They are just learning from our children. I hope your child does not have mito.

God bless,

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

-- Help! Suspected mitochondrial disorder

Hi I just found this group and hoped someone here might be able to help. My son is 3 years old and has an undiagnosed disorder. He began having myoclonic seizures at 5 months and was put on zonegran, which has kept them under control, around 8 months. He has had metabolic testing done, including a muscle mito test - all normal. He has had 3 brain MRI scans - normal results. He was born with undescended testes - they were still in the abdomen and were underdeveloped. He is extremely delayed - cannot crawl, walk, or talk. He did babble as a 5 month old but that is the only part that regressed. I am unsure of whether it is from the seizures, from the zonegran, or from both. He now squeals quite a bit, so we're hoping that might develop into some other baby type sounds. He didn't start using his hands until he was 13 months old. He has oral motor problems and sensory issues. He does continue to make very slow progress. He sits up well and is even using the potty. We got him in a clinical study at the NIH in land and even their tests (which included fragile x and Rett syndrome) came up negative. He is also quite small for his age (25 lbs and 34 inches (though he was 9 lb 4 oz when born). They suspect mitochondrial disorder of some kind. Does anybody have kids with mito disorder that are like my son? I was first told mitochondrial disorders are fatal, but since found out that is not true. Besides the above, Liam doesn't have other things I've seen described for most known mitochondrial disorders - no lactic acidosis, no eye problems, hearing problems, intestinal problems, or heart problems. Thanks in advance,Please contact mito-owner with any problems or questions.