Annette...dystonia....neurotransmitters info..

[Guest guest]

Hi Annette,

I am so sorry that she has had to suffer and I feel your

frustration. Our neuro at Mayo says the only way to test for this

disorder reliably is a lumbar puncture for spinal fluid---there is

only one lab (can't remember which one) that actually does the

testing. Cole has had 2 LP's in the past and no one has ever tested

for this. The neuro says this class of disorders is a newer

discovery than mito, so many (like mito) are unaware and uninformed.

She told us a story of an 18 year old that she diagnosed---very

severely affected. The mother called her after being treatment had

been initiated for a few months crying---tears of joy--her daughter

had only ever had 4 words in her vocab---it had increased to 35 words

in a few months---she gained these skill at 18 years old!

Mayo has only diagnosed 4 cases thus far, but they sound really

excited about the progress in those treated. She did say it is very

treatable in most cases.

Kris

> > Thanks for your feedback. Maybe they do have a neurotransmitter

> > disorder. The other things they say point to it are

hyperactivity,

> > don't sleep, and completely insane when in crisis.

> >

> > The boys have had these episodes since they day they got sick

(over

> a

> > year ago). They have called them dystonia and oculargyric crisis

> but

> > have never given us a med to help control them. The neuro did

talk

> > about putting them on parkinson drugs if they get a positive

> > diagnosis. I am frustrated because it seems like we get a

> different

> > diagnosis every 3 months.

> >

> > The boys have had occasional nystagmus like . I feel

really

> > bad after reading Heidi's post because Zack actually had an

episode

> > that lasted 3 days. Nobody ever knows what to do so it did not

> even

> > dawn on me to take him to the hospital.

> >

> > Thanks again,

> >

> > Kris

> > > >

> > > > Please contact mito-owner with any problems

or

> > > questions.

> > > >

> > > >

> > > >

[Guest guest]

Hi Kris,

I'm in Canada... and I'm not sure if they could even do a spinal tap/ lumbar puncture on my daughter at this stage of the game... she has had spinal fusion from top to bottom... its about 4 yrs now... so I would assume her spine is completely fused... no entry for access to spinal fluid... unless they could get it from her tailbone?... would that even be possible?... what disorders are you talking about... is it called "neurotransmitters"... or is there another official title... I would like to ask my neuro about it... she is pretty up to date on these things and willing to look anywhere for the answers... she has been great for referrals to other specialist too... she referred us to a neurosurgeon who did the deep brain stimulator implant... because she felt we had nothing to loose... of course this neurosurgeon was a complete and total ***... oh but that's another story...LOL

For me that is the most frustrating of the whole thing... if we actually found out that all of this could have been prevented by diet modification or some 50 cent drug... I will scream... and maybe sue a few doctors... LOL...

Thank you for the understanding... its so frustrating knowing your child is getting worse and not having any answers to why or where its going...

Annettepnkntwins wrote:

Hi Annette,I am so sorry that she has had to suffer and I feel your frustration. Our neuro at Mayo says the only way to test for this disorder reliably is a lumbar puncture for spinal fluid---there is only one lab (can't remember which one) that actually does the testing. Cole has had 2 LP's in the past and no one has ever tested for this. The neuro says this class of disorders is a newer discovery than mito, so many (like mito) are unaware and uninformed. She told us a story of an 18 year old that she diagnosed---very severely affected. The mother called her after being treatment had been initiated for a few months crying---tears of joy--her daughter had only ever had 4 words in her vocab---it had increased to 35 words in a few months---she gained these skill at 18 years old!Mayo has

only diagnosed 4 cases thus far, but they sound really excited about the progress in those treated. She did say it is very treatable in most cases.Kris> > Thanks for your feedback. Maybe they do have a neurotransmitter > > disorder. The other things they say point to it are hyperactivity, > > don't sleep, and completely insane when in crisis.> > > > The boys have had these episodes since they day they got sick (over > a > > year ago). They have

called them dystonia and oculargyric crisis > but > > have never given us a med to help control them. The neuro did talk > > about putting them on parkinson drugs if they get a positive > > diagnosis. I am frustrated because it seems like we get a > different > > diagnosis every 3 months. > > > > The boys have had occasional nystagmus like . I feel really > > bad after reading Heidi's post because Zack actually had an episode > > that lasted 3 days. Nobody ever knows what to do so it did not > even > > dawn on me to take him to the hospital.> > > > Thanks again,> > > > Kris> > > > > > > > Please contact mito-owner with any problems or > > > questions. > > > > > > > > > > > >

[Guest guest]

--Hi Annette

The group of disorders is called Pediatric Neurotransmitter Disease

or PND. The one that has dystonia is called DRD or dopamine

responsive dystonia. There is a little info on the web. I think

Baylor in Texas (?) does the labs. 's neuro had heard about

it from a conference and had her tested because of the dystonia. He

still thinks that the dystonia is some kind of neurotransmitter

problem because it's completely blocked by the klonopin. She has no

sedation from it either, even though we keep her phenobarb level high

and she's on a whopping dose of klonopin too. After a seizure once

she got 1 1/2 mg of ativan and she was still awake. (she was about

20lbs at the time).

Would the doctor be willing to give at least a muscle relaxant to

make it easier to do care? If he won't respond to her discomfort

could he at least help you change her diapers or keep her hands

clean? It's terrible that the doctors don't realize discomfort

unless the patient says " excuse me, could I please have some pain

medication " .

As far as the spinal tap, who knows, there may be a way to do it,

maybe the neurosurgeon would have an answer? I think I remember

reading that some PND's don't have treatments but it's worth a try if

it could potentially help.

Good luck

Heidi, 's Mom

- In Mito , Netty wrote:

> Hi Kris,

> I'm in Canada... and I'm not sure if they could even do a spinal

tap/ lumbar puncture on my daughter at this stage of the game... she

has had spinal fusion from top to bottom... its about 4 yrs now... so

I would assume her spine is completely fused... no entry for access

to spinal fluid... unless they could get it from her tailbone?...

would that even be possible?... what disorders are you talking

about... is it called " neurotransmitters " ... or is there another

official title... I would like to ask my neuro about it... she is

pretty up to date on these things and willing to look anywhere for

the answers... she has been great for referrals to other specialist

too... she referred us to a neurosurgeon who did the deep brain

stimulator implant... because she felt we had nothing to loose... of

course this neurosurgeon was a complete and total ***... oh but

that's another story...LOL

> For me that is the most frustrating of the whole thing... if we

actually found out that all of this could have been prevented by diet

modification or some 50 cent drug... I will scream... and maybe sue a

few doctors... LOL...

> Thank you for the understanding... its so frustrating knowing your

child is getting worse and not having any answers to why or where its

going...

> Annette

>

> pnkntwins wrote:

>

> Hi Annette,

>

> I am so sorry that she has had to suffer and I feel your

> frustration. Our neuro at Mayo says the only way to test for this

> disorder reliably is a lumbar puncture for spinal fluid---there is

> only one lab (can't remember which one) that actually does the

> testing. Cole has had 2 LP's in the past and no one has ever

tested

> for this. The neuro says this class of disorders is a newer

> discovery than mito, so many (like mito) are unaware and

uninformed.

> She told us a story of an 18 year old that she diagnosed---very

> severely affected. The mother called her after being treatment had

> been initiated for a few months crying---tears of joy--her daughter

> had only ever had 4 words in her vocab---it had increased to 35

words

> in a few months---she gained these skill at 18 years old!

>

> Mayo has only diagnosed 4 cases thus far, but they sound really

> excited about the progress in those treated. She did say it is

very

> treatable in most cases.

>

> Kris

>

>

>

>

> > > Thanks for your feedback. Maybe they do have a

neurotransmitter

> > > disorder. The other things they say point to it are

> hyperactivity,

> > > don't sleep, and completely insane when in crisis.

> > >

> > > The boys have had these episodes since they day they got sick

> (over

> > a

> > > year ago). They have called them dystonia and oculargyric

crisis

> > but

> > > have never given us a med to help control them. The neuro did

> talk

> > > about putting them on parkinson drugs if they get a positive

> > > diagnosis. I am frustrated because it seems like we get a

> > different

> > > diagnosis every 3 months.

> > >

> > > The boys have had occasional nystagmus like . I feel

> really

> > > bad after reading Heidi's post because Zack actually had an

> episode

> > > that lasted 3 days. Nobody ever knows what to do so it did not

> > even

> > > dawn on me to take him to the hospital.

> > >

> > > Thanks again,

> > >

> > > Kris

> > > > >

> > > > > Please contact mito-owner with any problems

> or

> > > > questions.

> > > > >

> > > > >

> > > > >

[Guest guest]

Hi Heidi,

Kai's on L-dopa which hasn't helped her dystonia at all... its only helped with her sleeping because she has restless leg movement... so there goes that one eh?... LOL...

I've been trying to get them to give me something... we have another neuro appointment coming soon... I want them to give me something strong like Ativan... because that was one I first noticed she relaxed.. she was in hospital having seizures and they gave her a massive dose of ativan to stop a status seizure... she was relaxed for 3 days and she was soo happy... laughing and behaving like her old self... it was so great... the only thing is Kai tends to get really sleepy from any drugs... so its hard to get a good drug that doesn't knock her out... we've tried the klonopin and the rivitrol and the clomazapam or what it clobazam... oh gosh there are sooo many drugs and no reaction to them...

I will be asking our neuro about this one thou... just in case...

Thanks again,

Annette, mom to Akasha aka Kaiheidicoleman2002 wrote:

--Hi AnnetteThe group of disorders is called Pediatric Neurotransmitter Disease or PND. The one that has dystonia is called DRD or dopamine responsive dystonia. There is a little info on the web. I think Baylor in Texas (?) does the labs. 's neuro had heard about it from a conference and had her tested because of the dystonia. He still thinks that the dystonia is some kind of neurotransmitter problem because it's completely blocked by the klonopin. She has no sedation from it either, even though we keep her phenobarb level high and she's on a whopping dose of klonopin too. After a seizure once she got 1 1/2 mg of ativan and she was still awake. (she was about 20lbs at the time).Would the doctor be willing to give at least a muscle relaxant to make it easier to do care?

If he won't respond to her discomfort could he at least help you change her diapers or keep her hands clean? It's terrible that the doctors don't realize discomfort unless the patient says "excuse me, could I please have some pain medication".As far as the spinal tap, who knows, there may be a way to do it, maybe the neurosurgeon would have an answer? I think I remember reading that some PND's don't have treatments but it's worth a try if it could potentially help.Good luckHeidi, 's Mom- In Mito , Netty <akashasmum2003@y...> wrote:> Hi Kris,> I'm in Canada... and I'm not sure if they could even do a spinal tap/ lumbar puncture on my daughter at this stage of the game... she has had spinal fusion from top to bottom... its about 4 yrs now... so I would assume her spine is completely fused... no entry for access to spinal fluid... unless they could get it

from her tailbone?... would that even be possible?... what disorders are you talking about... is it called "neurotransmitters"... or is there another official title... I would like to ask my neuro about it... she is pretty up to date on these things and willing to look anywhere for the answers... she has been great for referrals to other specialist too... she referred us to a neurosurgeon who did the deep brain stimulator implant... because she felt we had nothing to loose... of course this neurosurgeon was a complete and total ***... oh but that's another story...LOL> For me that is the most frustrating of the whole thing... if we actually found out that all of this could have been prevented by diet modification or some 50 cent drug... I will scream... and maybe sue a few doctors... LOL... > Thank you for the understanding... its so frustrating knowing your child is getting worse and not having any answers to why or

where its going... > Annette> > pnkntwins <pnkntwins@y...> wrote:> > Hi Annette,> > I am so sorry that she has had to suffer and I feel your > frustration. Our neuro at Mayo says the only way to test for this > disorder reliably is a lumbar puncture for spinal fluid---there is > only one lab (can't remember which one) that actually does the > testing. Cole has had 2 LP's in the past and no one has ever tested > for this. The neuro says this class of disorders is a newer > discovery than mito, so many (like mito) are unaware and uninformed. > She told us a story of an 18 year old that she diagnosed---very > severely affected. The mother called her after being treatment had > been initiated for a few months crying---tears of joy--her daughter > had only ever had 4 words in her vocab---it had increased to 35 words

> in a few months---she gained these skill at 18 years old!> > Mayo has only diagnosed 4 cases thus far, but they sound really > excited about the progress in those treated. She did say it is very > treatable in most cases.> > Kris> > > > > > > Thanks for your feedback. Maybe they do have a neurotransmitter > > > disorder. The other things they say point to it are > hyperactivity, > > > don't sleep, and completely insane when in crisis.> > > > > > The boys have had these episodes since they day they got sick > (over > > a > > > year ago). They have called them dystonia and oculargyric crisis > > but > > > have never given us a med to help control them. The neuro did > talk > > > about putting them on parkinson drugs if they get a positive > > > diagnosis. I am frustrated because it seems like we get a > > different > > > diagnosis every 3 months. > > > > > > The boys have had occasional nystagmus like . I feel > really > > > bad

after reading Heidi's post because Zack actually had an > episode > > > that lasted 3 days. Nobody ever knows what to do so it did not > > even > > > dawn on me to take him to the hospital.> > > > > > Thanks again,> > > > > > Kris> > > > > > > > > > Please contact mito-owner with any problems > or > > > > questions. > > > > > > > > > > > > > > >