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]

Welcome to the group! I feel your frustration. Opinions on this list are

mixed re: Shoffner, but we liked him very much and got our son's

diagnosis through him. February or March are not so long away and you will

have your answer soon. Of course, it is not a cure, but at least you will

know which " camp " you belong in. Certainly, mito is also associated

strongly with autism and a mito diagnosis might explain both your son's

conditions. As far as the doctor's opinion that your son would die by the

time he reached 50 lbs. . . . . That's a new one! I have never heard such a

bold prediction! Take heart that many on this list were given dire

prognoses and their children continue to live.

God bless, Lori, mom to , complex I and IV

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]

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]

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, 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]

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

Thats a new one me! Its almost laughable that a doctor would say that? I think it was his somewhat subtle yet really ignorant way of saying he has a progressive disease that may not be treatable...so irresponsible. Anyway, yes 'atypical cerebral palsy' is one of the things that Mito docs agree needs a further look...something to evaluate for mito. I think you are right on to try to educate yourself about the disease.

As to the MRI, I dont' know why docs have such a hard time just telling you something is wrong...I mean it would be one thing for them to have those results and then him be a typical kid...then you might question it, but given his clinical picture, I dont' know why he would blame it on the machine. Did they say anything about white matter? Do you have a copy of the results? There is a group of diseases linked to mito called leukodystrophies but I know leuko-means white but I think they might have some gray matter diseases in there too. Thier website is www.ulf.org and there are some kids who have mito and leuko...the leuko docs thinks mito and L are very close together while you wont hear much about L from the mito docs. I tend to think my son had both altho it was never ruled in.

Also, one more intersting thing in your email...the fact that your other child has autism could be another mito marker. There is one mito doc in particular who has taken a special interest in the link between mito and autistic spectrum diseases and even coined a diagnosis called 'mito-pdd". I have noticed on the list that there might be one affected child...who has considerable health issues and a mito diagnosis and then they will have a sib with an austistic spectrum disorder. There is another list called mito-meta-autism on yahoo that you might be interested in.

welcome to the group...sorry you have a reason to be here but its a great group of moms and dads here!

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/