Re: Saw Dobyns today - Have Some Renewed Hope!

[Guest guest]

That is so great!

What is LGS?

Traci

Penny Rubalcaba wrote:

We finally got to meet with Dr. Dobyns today. Marz has unilateral

polymicrogyria (not pachygyria as the neuro diagnosed) with heterotopia in one

lateral ventricle. Dobyns gave us the full text version of this document

http://brain.oxfordjournals.org/cgi/content/abstract/128/12/2811 and explained

this best describes what she has. There are some other issues like a smaller

than normal cerebellum and partial agenesis of the corpus collosum and possible

malformation of the hippocampus.

Sounds like a lot wrong but, and this is a huge but, he said that the brain

malformations did not explain the severity of her mental retardation or other

issues. It's more likely the seizures and meds making things worse for her. So

he will be recommending her neuro try something different (Felbamate) and

possibly other treatments (VNS) to help control her Lennox Gastaut. Certainly no

guarantees, LGS is not an easy thing, but its something we can try to fight. It

gave us renewed hope that fighting the LGS is well worth every effort we can

make.

I know many of you have asked about Marz because she is an older child (14) and

I always warn; we don't know how much of her issues are due to the malformation

and how much are due to LGS. I hear some of you describe much worse diagnosis

yet your kids are doing amazing things and I have wondered why is Marz is not

doing at least as well. Dobyns pretty much let us know that the malformations

don't explain the level of her impairment and it's the LGS and meds making

things worse, for us, it's an answer.

And the really big news is that Dobyns gave my husband's 2 adult children a less

than 1% risk factor of them having an affected child. He thinks it's genetic,

but a very rare kind. In fact he said he's never seen malformations quite like

what she has.

I was further elated when he said he was going to consult with Dr. Guerinni

about her case. Guerinni also happens to be probably the worlds greatest LGS

expert so, wow, even more potential for help in our LGS battle.

We went into his office really not expecting much(real point in going was to be

able to put his adult children's minds at ease) but we came away with some hope,

the potential for some small improvement, but at this point, thats huge. I'm now

another Dobyn's groupie.

Penny - Step mom to nela -14 - with Unilateral PNH–PMG (we now have an

acronym for it)

[Guest guest]

Sorry, didn't explain that too well, LGS is Lennox Gastaut Syndrome, an

extremely severe General seizure disorder that involves slow spike and wave

pattern, mutlitple seizure types that is very (if not impossible) to control.

EEG's usually show continuous or near continuous epileptiform activity. More

details at link below

http://www.emedicine.com/neuro/topic186.htm

Traci Montgomery wrote:

That is so great!

What is LGS?

Traci

Penny Rubalcaba wrote:

We finally got to meet with Dr. Dobyns today. Marz has unilateral polymicrogyria

(not pachygyria as the neuro diagnosed) with heterotopia in one lateral

ventricle. Dobyns gave us the full text version of this document

http://brain.oxfordjournals.org/cgi/content/abstract/128/12/2811 and explained

this best describes what she has. There are some other issues like a smaller

than normal cerebellum and partial agenesis of the corpus collosum and possible

malformation of the hippocampus.

Sounds like a lot wrong but, and this is a huge but, he said that the brain

malformations did not explain the severity of her mental retardation or other

issues. It's more likely the seizures and meds making things worse for her. So

he will be recommending her neuro try something different (Felbamate) and

possibly other treatments (VNS) to help control her Lennox Gastaut. Certainly no

guarantees, LGS is not an easy thing, but its something we can try to fight. It

gave us renewed hope that fighting the LGS is well worth every effort we can

make.

I know many of you have asked about Marz because she is an older child (14) and

I always warn; we don't know how much of her issues are due to the malformation

and how much are due to LGS. I hear some of you describe much worse diagnosis

yet your kids are doing amazing things and I have wondered why is Marz is not

doing at least as well. Dobyns pretty much let us know that the malformations

don't explain the level of her impairment and it's the LGS and meds making

things worse, for us, it's an answer.

And the really big news is that Dobyns gave my husband's 2 adult children a less

than 1% risk factor of them having an affected child. He thinks it's genetic,

but a very rare kind. In fact he said he's never seen malformations quite like

what she has.

I was further elated when he said he was going to consult with Dr. Guerinni

about her case. Guerinni also happens to be probably the worlds greatest LGS

expert so, wow, even more potential for help in our LGS battle.

We went into his office really not expecting much(real point in going was to be

able to put his adult children's minds at ease) but we came away with some hope,

the potential for some small improvement, but at this point, thats huge. I'm now

another Dobyn's groupie.

Penny - Step mom to nela -14 - with Unilateral PNH–PMG (we now have an

acronym for it)

[Guest guest]

Penny,

My son, , also has unilateral PMG which was diagnosed by Dr. Dobyns. We

did a consult with Dr. Guerrini as well. He diagnosed my son with CSWS rather

than LGS which was his diagnosis at the time. We followed his treatment plan and

has done very well since then. We were lucky to have a neuro that was

willing to listen to us and other doctors. Dobyns and Guerrini are the best. I

can't say enough about how great those two doctors are. I'm glad that you are in

contact with both of them.

-Steve

Penny Rubalcaba wrote:

We finally got to meet with Dr. Dobyns today. Marz has unilateral polymicrogyria

(not pachygyria as the neuro diagnosed) with heterotopia in one lateral

ventricle. Dobyns gave us the full text version of this document

http://brain.oxfordjournals.org/cgi/content/abstract/128/12/2811 and explained

this best describes what she has. There are some other issues like a smaller

than normal cerebellum and partial agenesis of the corpus collosum and possible

malformation of the hippocampus.

Sounds like a lot wrong but, and this is a huge but, he said that the brain

malformations did not explain the severity of her mental retardation or other

issues. It's more likely the seizures and meds making things worse for her. So

he will be recommending her neuro try something different (Felbamate) and

possibly other treatments (VNS) to help control her Lennox Gastaut. Certainly

no guarantees, LGS is not an easy thing, but its something we can try to fight.

It gave us renewed hope that fighting the LGS is well worth every effort we can

make.

I know many of you have asked about Marz because she is an older child (14)

and I always warn; we don't know how much of her issues are due to the

malformation and how much are due to LGS. I hear some of you describe much

worse diagnosis yet your kids are doing amazing things and I have wondered why

is Marz is not doing at least as well. Dobyns pretty much let us know that the

malformations don't explain the level of her impairment and it's the LGS and

meds making things worse, for us, it's an answer.

And the really big news is that Dobyns gave my husband's 2 adult children a

less than 1% risk factor of them having an affected child. He thinks it's

genetic, but a very rare kind. In fact he said he's never seen malformations

quite like what she has.

I was further elated when he said he was going to consult with Dr. Guerinni

about her case. Guerinni also happens to be probably the worlds greatest LGS

expert so, wow, even more potential for help in our LGS battle.

We went into his office really not expecting much(real point in going was to

be able to put his adult children's minds at ease) but we came away with some

hope, the potential for some small improvement, but at this point, thats huge.

I'm now another Dobyn's groupie.

Penny - Step mom to nela -14 - with Unilateral PNH–PMG (we now have an

acronym for it)

[Guest guest]

Steve,

I'm so glad to hear that Guerrini was able to give you even more insight and a

plan of action. We hope for the same when Dobyns sends Marz's info to him. I'm

not too hopeful that the diagnosis of LGS will change simply because the slow

spike and wave is continuous or near continuous even while she is awake

according to her EEG. But we are still very hopeful that Guerrini will give us

some answers. If not....it's like said (I know I'm not quoting this

correctly but something like this) " the best you can do has to be enough " and

these guys are the best.

Penny Step Mom to nela - 14 Unilateral PNH-PMG

Steve Barr wrote:

Penny,

My son, , also has unilateral PMG which was diagnosed by Dr. Dobyns. We

did a consult with Dr. Guerrini as well. He diagnosed my son with CSWS rather

than LGS which was his diagnosis at the time. We followed his treatment plan and

has done very well since then. We were lucky to have a neuro that was

willing to listen to us and other doctors. Dobyns and Guerrini are the best. I

can't say enough about how great those two doctors are. I'm glad that you are in

contact with both of them.

-Steve

Penny Rubalcaba wrote: We finally got to meet with Dr.

Dobyns today. Marz has unilateral polymicrogyria (not pachygyria as the neuro

diagnosed) with heterotopia in one lateral ventricle. Dobyns gave us the full

text version of this document

http://brain.oxfordjournals.org/cgi/content/abstract/128/12/2811 and explained

this best describes what she has. There are some other issues like a smaller

than normal cerebellum and partial agenesis of the corpus collosum and possible

malformation of the hippocampus.

Sounds like a lot wrong but, and this is a huge but, he said that the brain

malformations did not explain the severity of her mental retardation or other

issues. It's more likely the seizures and meds making things worse for her. So

he will be recommending her neuro try something different (Felbamate) and

possibly other treatments (VNS) to help control her Lennox Gastaut. Certainly no

guarantees, LGS is not an easy thing, but its something we can try to fight. It

gave us renewed hope that fighting the LGS is well worth every effort we can

make.

I know many of you have asked about Marz because she is an older child (14) and

I always warn; we don't know how much of her issues are due to the malformation

and how much are due to LGS. I hear some of you describe much worse diagnosis

yet your kids are doing amazing things and I have wondered why is Marz is not

doing at least as well. Dobyns pretty much let us know that the malformations

don't explain the level of her impairment and it's the LGS and meds making

things worse, for us, it's an answer.

And the really big news is that Dobyns gave my husband's 2 adult children a less

than 1% risk factor of them having an affected child. He thinks it's genetic,

but a very rare kind. In fact he said he's never seen malformations quite like

what she has.

I was further elated when he said he was going to consult with Dr. Guerinni

about her case. Guerinni also happens to be probably the worlds greatest LGS

expert so, wow, even more potential for help in our LGS battle.

We went into his office really not expecting much(real point in going was to be

able to put his adult children's minds at ease) but we came away with some hope,

the potential for some small improvement, but at this point, thats huge. I'm now

another Dobyn's groupie.

Penny - Step mom to nela -14 - with Unilateral PNH–PMG (we now have an

acronym for it)

[Guest guest]

Penny,

I don't want to get you too hopeful, but our neurologist was sure my had

LGS and he would show me spike and wave complexes in the EEG that he said were

classic LGS. I was not convinced because the clinical seizures were not typical

LGS. One way to differentiate the two clinically is if tonic seizures are

present. Tonic seizures are common in LGS but rare in CSWS. never had

tonic only seizures. It wasn't until our doctor agreed to try Guerrini's

treatment and saw the improvement it had on that he finally would accept

that it wasn't LGS. Every time we see him now he tells me how I taught him

something.

What kind of seizures does she have? When did they start? What drugs have you

tried?

-Steve

Penny Rubalcaba wrote:

Steve,

I'm so glad to hear that Guerrini was able to give you even more insight and

a plan of action. We hope for the same when Dobyns sends Marz's info to him.

I'm not too hopeful that the diagnosis of LGS will change simply because the

slow spike and wave is continuous or near continuous even while she is awake

according to her EEG. But we are still very hopeful that Guerrini will give us

some answers. If not....it's like said (I know I'm not quoting this

correctly but something like this) " the best you can do has to be enough " and

these guys are the best.

Penny Step Mom to nela - 14 Unilateral PNH-PMG

Steve Barr wrote:

Penny,

My son, , also has unilateral PMG which was diagnosed by Dr. Dobyns. We

did a consult with Dr. Guerrini as well. He diagnosed my son with CSWS rather

than LGS which was his diagnosis at the time. We followed his treatment plan and

has done very well since then. We were lucky to have a neuro that was

willing to listen to us and other doctors. Dobyns and Guerrini are the best. I

can't say enough about how great those two doctors are. I'm glad that you are in

contact with both of them.

-Steve

Penny Rubalcaba wrote: We finally got to meet with Dr.

Dobyns today. Marz has unilateral polymicrogyria (not pachygyria as the neuro

diagnosed) with heterotopia in one lateral ventricle. Dobyns gave us the full

text version of this document

http://brain.oxfordjournals.org/cgi/content/abstract/128/12/2811 and explained

this best describes what she has. There are some other issues like a smaller

than normal cerebellum and partial agenesis of the corpus collosum and possible

malformation of the hippocampus.

Sounds like a lot wrong but, and this is a huge but, he said that the brain

malformations did not explain the severity of her mental retardation or other

issues. It's more likely the seizures and meds making things worse for her. So

he will be recommending her neuro try something different (Felbamate) and

possibly other treatments (VNS) to help control her Lennox Gastaut. Certainly no

guarantees, LGS is not an easy thing, but its something we can try to fight. It

gave us renewed hope that fighting the LGS is well worth every effort we can

make.

I know many of you have asked about Marz because she is an older child (14) and

I always warn; we don't know how much of her issues are due to the malformation

and how much are due to LGS. I hear some of you describe much worse diagnosis

yet your kids are doing amazing things and I have wondered why is Marz is not

doing at least as well. Dobyns pretty much let us know that the malformations

don't explain the level of her impairment and it's the LGS and meds making

things worse, for us, it's an answer.

And the really big news is that Dobyns gave my husband's 2 adult children a

less than 1% risk factor of them having an affected child. He thinks it's

genetic, but a very rare kind. In fact he said he's never seen malformations

quite like what she has.

I was further elated when he said he was going to consult with Dr. Guerinni

about her case. Guerinni also happens to be probably the worlds greatest LGS

expert so, wow, even more potential for help in our LGS battle.

We went into his office really not expecting much(real point in going was to be

able to put his adult children's minds at ease) but we came away with some hope,

the potential for some small improvement, but at this point, thats huge. I'm now

another Dobyn's groupie.

Penny - Step mom to nela -14 - with Unilateral PNH–PMG (we now have an

acronym for it)

[Guest guest]

Steve,

Marz started with IS at 6 months and was later dx with West Syndrome.

Unfortunately Marz does have Tonic (drop) seizures, particularly when she wakes

up and during sleep. She also has myoclonic, absence and gelastic (laughing)

seizures. The Tonics have gotten better over the years, but were really bad at

one point. My husband told me that soon after she was first dx with LGS she

started having sound seizures (would drop at any loud or sudden noises). Those

have gone away and the tonics are much less frequent now, thankfully.

There are times were it seems like she is constantly going in and out of

absence seizures all day long for weeks at a time, then it clears up and she's

more alert. Her ataxia can also be really bad at times and almost non existent

other times (unfortunately the bad days out number the good). We don't

understand why this happens but I've always chalked it up to the LGS.

As far as drugs, well the list would be smaller if you asked " what hasn't she

tried " . To my husband's knowledge she has never been given felbamate as Dobyns

has suggested. She did the ACTH thing as a baby (worked only while taking it).

She's currently on Depekote, Lamictal and being weaned from Klonopin because her

doctor wanted to try Zonegran.

We would be surprised if this isn't LGS only because she has seen so many

different neuros over the years and she seems to be a classic case. But I have

big hope that Guerinni can help, or at least give us the best plan of action.

Penny

Steve Barr wrote:

Penny,

I don't want to get you too hopeful, but our neurologist was sure my had

LGS and he would show me spike and wave complexes in the EEG that he said were

classic LGS. I was not convinced because the clinical seizures were not typical

LGS. One way to differentiate the two clinically is if tonic seizures are

present. Tonic seizures are common in LGS but rare in CSWS. never had

tonic only seizures. It wasn't until our doctor agreed to try Guerrini's

treatment and saw the improvement it had on that he finally would accept

that it wasn't LGS. Every time we see him now he tells me how I taught him

something.

What kind of seizures does she have? When did they start? What drugs have you

tried?

-Steve

Penny Rubalcaba wrote: Steve,

I'm so glad to hear that Guerrini was able to give you even more insight and a

plan of action. We hope for the same when Dobyns sends Marz's info to him. I'm

not too hopeful that the diagnosis of LGS will change simply because the slow

spike and wave is continuous or near continuous even while she is awake

according to her EEG. But we are still very hopeful that Guerrini will give us

some answers. If not....it's like said (I know I'm not quoting this

correctly but something like this) " the best you can do has to be enough " and

these guys are the best.

Penny Step Mom to nela - 14 Unilateral PNH-PMG

Steve Barr wrote:

Penny,

My son, , also has unilateral PMG which was diagnosed by Dr. Dobyns. We

did a consult with Dr. Guerrini as well. He diagnosed my son with CSWS rather

than LGS which was his diagnosis at the time. We followed his treatment plan and

has done very well since then. We were lucky to have a neuro that was

willing to listen to us and other doctors. Dobyns and Guerrini are the best. I

can't say enough about how great those two doctors are. I'm glad that you are in

contact with both of them.

-Steve

Penny Rubalcaba wrote: We finally got to meet with Dr.

Dobyns today. Marz has unilateral polymicrogyria (not pachygyria as the neuro

diagnosed) with heterotopia in one lateral ventricle. Dobyns gave us the full

text version of this document

http://brain.oxfordjournals.org/cgi/content/abstract/128/12/2811 and explained

this best describes what she has. There are some other issues like a smaller

than normal cerebellum and partial agenesis of the corpus collosum and possible

malformation of the hippocampus.

Sounds like a lot wrong but, and this is a huge but, he said that the brain

malformations did not explain the severity of her mental retardation or other

issues. It's more likely the seizures and meds making things worse for her. So

he will be recommending her neuro try something different (Felbamate) and

possibly other treatments (VNS) to help control her Lennox Gastaut. Certainly no

guarantees, LGS is not an easy thing, but its something we can try to fight. It

gave us renewed hope that fighting the LGS is well worth every effort we can

make.

I know many of you have asked about Marz because she is an older child (14) and

I always warn; we don't know how much of her issues are due to the malformation

and how much are due to LGS. I hear some of you describe much worse diagnosis

yet your kids are doing amazing things and I have wondered why is Marz is not

doing at least as well. Dobyns pretty much let us know that the malformations

don't explain the level of her impairment and it's the LGS and meds making

things worse, for us, it's an answer.

And the really big news is that Dobyns gave my husband's 2 adult children a less

than 1% risk factor of them having an affected child. He thinks it's genetic,

but a very rare kind. In fact he said he's never seen malformations quite like

what she has.

I was further elated when he said he was going to consult with Dr. Guerinni

about her case. Guerinni also happens to be probably the worlds greatest LGS

expert so, wow, even more potential for help in our LGS battle.

We went into his office really not expecting much(real point in going was to be

able to put his adult children's minds at ease) but we came away with some hope,

the potential for some small improvement, but at this point, thats huge. I'm now

another Dobyn's groupie.

Penny - Step mom to nela -14 - with Unilateral PNH–PMG (we now have an

acronym for it)

[Guest guest]

Steve,

One other weird thing I forgot to mention and you'll appreciate this since

has unilateral PMG. According to Marz's eeg the seizures seem to be

originating from the side of her brain that is not affected by the PMG or

Heterotopia. Even Dobyns thought that was strange and chalked it up to the

years of seizures and meds taking their toll.

Penny

Steve Barr wrote:

Penny,

I don't want to get you too hopeful, but our neurologist was sure my had

LGS and he would show me spike and wave complexes in the EEG that he said were

classic LGS. I was not convinced because the clinical seizures were not typical

LGS. One way to differentiate the two clinically is if tonic seizures are

present. Tonic seizures are common in LGS but rare in CSWS. never had

tonic only seizures. It wasn't until our doctor agreed to try Guerrini's

treatment and saw the improvement it had on that he finally would accept

that it wasn't LGS. Every time we see him now he tells me how I taught him

something.

What kind of seizures does she have? When did they start? What drugs have you

tried?

-Steve

Penny Rubalcaba wrote: Steve,

I'm so glad to hear that Guerrini was able to give you even more insight and a

plan of action. We hope for the same when Dobyns sends Marz's info to him. I'm

not too hopeful that the diagnosis of LGS will change simply because the slow

spike and wave is continuous or near continuous even while she is awake

according to her EEG. But we are still very hopeful that Guerrini will give us

some answers. If not....it's like said (I know I'm not quoting this

correctly but something like this) " the best you can do has to be enough " and

these guys are the best.

Penny Step Mom to nela - 14 Unilateral PNH-PMG

Steve Barr wrote:

Penny,

My son, , also has unilateral PMG which was diagnosed by Dr. Dobyns. We

did a consult with Dr. Guerrini as well. He diagnosed my son with CSWS rather

than LGS which was his diagnosis at the time. We followed his treatment plan and

has done very well since then. We were lucky to have a neuro that was

willing to listen to us and other doctors. Dobyns and Guerrini are the best. I

can't say enough about how great those two doctors are. I'm glad that you are in

contact with both of them.

-Steve

Penny Rubalcaba wrote: We finally got to meet with Dr.

Dobyns today. Marz has unilateral polymicrogyria (not pachygyria as the neuro

diagnosed) with heterotopia in one lateral ventricle. Dobyns gave us the full

text version of this document

http://brain.oxfordjournals.org/cgi/content/abstract/128/12/2811 and explained

this best describes what she has. There are some other issues like a smaller

than normal cerebellum and partial agenesis of the corpus collosum and possible

malformation of the hippocampus.

Sounds like a lot wrong but, and this is a huge but, he said that the brain

malformations did not explain the severity of her mental retardation or other

issues. It's more likely the seizures and meds making things worse for her. So

he will be recommending her neuro try something different (Felbamate) and

possibly other treatments (VNS) to help control her Lennox Gastaut. Certainly no

guarantees, LGS is not an easy thing, but its something we can try to fight. It

gave us renewed hope that fighting the LGS is well worth every effort we can

make.

I know many of you have asked about Marz because she is an older child (14) and

I always warn; we don't know how much of her issues are due to the malformation

and how much are due to LGS. I hear some of you describe much worse diagnosis

yet your kids are doing amazing things and I have wondered why is Marz is not

doing at least as well. Dobyns pretty much let us know that the malformations

don't explain the level of her impairment and it's the LGS and meds making

things worse, for us, it's an answer.

And the really big news is that Dobyns gave my husband's 2 adult children a less

than 1% risk factor of them having an affected child. He thinks it's genetic,

but a very rare kind. In fact he said he's never seen malformations quite like

what she has.

I was further elated when he said he was going to consult with Dr. Guerinni

about her case. Guerinni also happens to be probably the worlds greatest LGS

expert so, wow, even more potential for help in our LGS battle.

We went into his office really not expecting much(real point in going was to be

able to put his adult children's minds at ease) but we came away with some hope,

the potential for some small improvement, but at this point, thats huge. I'm now

another Dobyn's groupie.

Penny - Step mom to nela -14 - with Unilateral PNH–PMG (we now have an

acronym for it)

[Guest guest]

Penny,

Tonics are the type of seizure where the entire body becomes stiff. Atonic are

drop seizures. IS and West syndrome are considered precursors to LGS. 's

seizures didn't start until he was almost 5. It will be interesting to read what

Guerrini thinks. Hopefully he can help.

-Steve

Penny Rubalcaba wrote:

Steve,

Marz started with IS at 6 months and was later dx with West Syndrome.

Unfortunately Marz does have Tonic (drop) seizures, particularly when she wakes

up and during sleep. She also has myoclonic, absence and gelastic (laughing)

seizures. The Tonics have gotten better over the years, but were really bad at

one point. My husband told me that soon after she was first dx with LGS she

started having sound seizures (would drop at any loud or sudden noises). Those

have gone away and the tonics are much less frequent now, thankfully.

There are times were it seems like she is constantly going in and out of

absence seizures all day long for weeks at a time, then it clears up and she's

more alert. Her ataxia can also be really bad at times and almost non existent

other times (unfortunately the bad days out number the good). We don't

understand why this happens but I've always chalked it up to the LGS.

As far as drugs, well the list would be smaller if you asked " what hasn't she

tried " . To my husband's knowledge she has never been given felbamate as Dobyns

has suggested. She did the ACTH thing as a baby (worked only while taking it).

She's currently on Depekote, Lamictal and being weaned from Klonopin because her

doctor wanted to try Zonegran.

We would be surprised if this isn't LGS only because she has seen so many

different neuros over the years and she seems to be a classic case. But I have

big hope that Guerinni can help, or at least give us the best plan of action.

Penny

Steve Barr wrote:

Penny,

I don't want to get you too hopeful, but our neurologist was sure my had

LGS and he would show me spike and wave complexes in the EEG that he said were

classic LGS. I was not convinced because the clinical seizures were not typical

LGS. One way to differentiate the two clinically is if tonic seizures are

present. Tonic seizures are common in LGS but rare in CSWS. never had

tonic only seizures. It wasn't until our doctor agreed to try Guerrini's

treatment and saw the improvement it had on that he finally would accept

that it wasn't LGS. Every time we see him now he tells me how I taught him

something.

What kind of seizures does she have? When did they start? What drugs have you

tried?

-Steve

Penny Rubalcaba wrote: Steve,

I'm so glad to hear that Guerrini was able to give you even more insight and a

plan of action. We hope for the same when Dobyns sends Marz's info to him. I'm

not too hopeful that the diagnosis of LGS will change simply because the slow

spike and wave is continuous or near continuous even while she is awake

according to her EEG. But we are still very hopeful that Guerrini will give us

some answers. If not....it's like said (I know I'm not quoting this

correctly but something like this) " the best you can do has to be enough " and

these guys are the best.

Penny Step Mom to nela - 14 Unilateral PNH-PMG

Steve Barr wrote:

Penny,

My son, , also has unilateral PMG which was diagnosed by Dr. Dobyns. We

did a consult with Dr. Guerrini as well. He diagnosed my son with CSWS rather

than LGS which was his diagnosis at the time. We followed his treatment plan and

has done very well since then. We were lucky to have a neuro that was

willing to listen to us and other doctors. Dobyns and Guerrini are the best. I

can't say enough about how great those two doctors are. I'm glad that you are in

contact with both of them.

-Steve

Penny Rubalcaba wrote: We finally got to meet with Dr.

Dobyns today. Marz has unilateral polymicrogyria (not pachygyria as the neuro

diagnosed) with heterotopia in one lateral ventricle. Dobyns gave us the full

text version of this document

http://brain.oxfordjournals.org/cgi/content/abstract/128/12/2811 and explained

this best describes what she has. There are some other issues like a smaller

than normal cerebellum and partial agenesis of the corpus collosum and possible

malformation of the hippocampus.

Sounds like a lot wrong but, and this is a huge but, he said that the brain

malformations did not explain the severity of her mental retardation or other

issues. It's more likely the seizures and meds making things worse for her. So

he will be recommending her neuro try something different (Felbamate) and

possibly other treatments (VNS) to help control her Lennox Gastaut. Certainly no

guarantees, LGS is not an easy thing, but its something we can try to fight. It

gave us renewed hope that fighting the LGS is well worth every effort we can

make.

I know many of you have asked about Marz because she is an older child (14) and

I always warn; we don't know how much of her issues are due to the malformation

and how much are due to LGS. I hear some of you describe much worse diagnosis

yet your kids are doing amazing things and I have wondered why is Marz is not

doing at least as well. Dobyns pretty much let us know that the malformations

don't explain the level of her impairment and it's the LGS and meds making

things worse, for us, it's an answer.

And the really big news is that Dobyns gave my husband's 2 adult children a

less than 1% risk factor of them having an affected child. He thinks it's

genetic, but a very rare kind. In fact he said he's never seen malformations

quite like what she has.

I was further elated when he said he was going to consult with Dr. Guerinni

about her case. Guerinni also happens to be probably the worlds greatest LGS

expert so, wow, even more potential for help in our LGS battle.

We went into his office really not expecting much(real point in going was to be

able to put his adult children's minds at ease) but we came away with some hope,

the potential for some small improvement, but at this point, thats huge. I'm now

another Dobyn's groupie.

Penny - Step mom to nela -14 - with Unilateral PNH–PMG (we now have an

acronym for it)

[Guest guest]

That is odd. I'll have to tell my son's neuro about that.

Penny Rubalcaba wrote:

Steve,

One other weird thing I forgot to mention and you'll appreciate this since

has unilateral PMG. According to Marz's eeg the seizures seem to be

originating from the side of her brain that is not affected by the PMG or

Heterotopia. Even Dobyns thought that was strange and chalked it up to the

years of seizures and meds taking their toll.

Penny

Steve Barr wrote:

Penny,

I don't want to get you too hopeful, but our neurologist was sure my had

LGS and he would show me spike and wave complexes in the EEG that he said were

classic LGS. I was not convinced because the clinical seizures were not typical

LGS. One way to differentiate the two clinically is if tonic seizures are

present. Tonic seizures are common in LGS but rare in CSWS. never had

tonic only seizures. It wasn't until our doctor agreed to try Guerrini's

treatment and saw the improvement it had on that he finally would accept

that it wasn't LGS. Every time we see him now he tells me how I taught him

something.

What kind of seizures does she have? When did they start? What drugs have you

tried?

-Steve

Penny Rubalcaba wrote: Steve,

I'm so glad to hear that Guerrini was able to give you even more insight and a

plan of action. We hope for the same when Dobyns sends Marz's info to him. I'm

not too hopeful that the diagnosis of LGS will change simply because the slow

spike and wave is continuous or near continuous even while she is awake

according to her EEG. But we are still very hopeful that Guerrini will give us

some answers. If not....it's like said (I know I'm not quoting this

correctly but something like this) " the best you can do has to be enough " and

these guys are the best.

Penny Step Mom to nela - 14 Unilateral PNH-PMG

Steve Barr wrote:

Penny,

My son, , also has unilateral PMG which was diagnosed by Dr. Dobyns. We

did a consult with Dr. Guerrini as well. He diagnosed my son with CSWS rather

than LGS which was his diagnosis at the time. We followed his treatment plan and

has done very well since then. We were lucky to have a neuro that was

willing to listen to us and other doctors. Dobyns and Guerrini are the best. I

can't say enough about how great those two doctors are. I'm glad that you are in

contact with both of them.

-Steve

Penny Rubalcaba wrote: We finally got to meet with Dr.

Dobyns today. Marz has unilateral polymicrogyria (not pachygyria as the neuro

diagnosed) with heterotopia in one lateral ventricle. Dobyns gave us the full

text version of this document

http://brain.oxfordjournals.org/cgi/content/abstract/128/12/2811 and explained

this best describes what she has. There are some other issues like a smaller

than normal cerebellum and partial agenesis of the corpus collosum and possible

malformation of the hippocampus.

Sounds like a lot wrong but, and this is a huge but, he said that the brain

malformations did not explain the severity of her mental retardation or other

issues. It's more likely the seizures and meds making things worse for her. So

he will be recommending her neuro try something different (Felbamate) and

possibly other treatments (VNS) to help control her Lennox Gastaut. Certainly no

guarantees, LGS is not an easy thing, but its something we can try to fight. It

gave us renewed hope that fighting the LGS is well worth every effort we can

make.

I know many of you have asked about Marz because she is an older child (14) and

I always warn; we don't know how much of her issues are due to the malformation

and how much are due to LGS. I hear some of you describe much worse diagnosis

yet your kids are doing amazing things and I have wondered why is Marz is not

doing at least as well. Dobyns pretty much let us know that the malformations

don't explain the level of her impairment and it's the LGS and meds making

things worse, for us, it's an answer.

And the really big news is that Dobyns gave my husband's 2 adult children a

less than 1% risk factor of them having an affected child. He thinks it's

genetic, but a very rare kind. In fact he said he's never seen malformations

quite like what she has.

I was further elated when he said he was going to consult with Dr. Guerinni

about her case. Guerinni also happens to be probably the worlds greatest LGS

expert so, wow, even more potential for help in our LGS battle.

We went into his office really not expecting much(real point in going was to be

able to put his adult children's minds at ease) but we came away with some hope,

the potential for some small improvement, but at this point, thats huge. I'm now

another Dobyn's groupie.

Penny - Step mom to nela -14 - with Unilateral PNH–PMG (we now have an

acronym for it)

[Guest guest]

Steve,

what is/was Guerrini's treatment given to ? I have not had a precise dx

for Chloe's epilepsy but at times it continuous.(in and out of complex seizures

for maybe 3 or 4 days) She is currently on Lamotrigine and Topirimate. She has

diffuse bilateral pmg

Dom

Re: Saw Dobyns today - Have Some Renewed Hope!

Penny,

I don't want to get you too hopeful, but our neurologist was sure my

had LGS and he would show me spike and wave complexes in the EEG that he said

were classic LGS. I was not convinced because the clinical seizures were not

typical LGS. One way to differentiate the two clinically is if tonic seizures

are present. Tonic seizures are common in LGS but rare in CSWS. never had

tonic only seizures. It wasn't until our doctor agreed to try Guerrini's

treatment and saw the improvement it had on that he finally would accept

that it wasn't LGS. Every time we see him now he tells me how I taught him

something.

What kind of seizures does she have? When did they start? What drugs have you

tried?

-Steve

Penny Rubalcaba wrote: Steve,

I'm so glad to hear that Guerrini was able to give you even more insight and a

plan of action. We hope for the same when Dobyns sends Marz's info to him. I'm

not too hopeful that the diagnosis of LGS will change simply because the slow

spike and wave is continuous or near continuous even while she is awake

according to her EEG. But we are still very hopeful that Guerrini will give us

some answers. If not....it's like said (I know I'm not quoting this

correctly but something like this) " the best you can do has to be enough " and

these guys are the best.

Penny Step Mom to nela - 14 Unilateral PNH-PMG

Steve Barr wrote:

Penny,

My son, , also has unilateral PMG which was diagnosed by Dr. Dobyns. We

did a consult with Dr. Guerrini as well. He diagnosed my son with CSWS rather

than LGS which was his diagnosis at the time. We followed his treatment plan and

has done very well since then. We were lucky to have a neuro that was

willing to listen to us and other doctors. Dobyns and Guerrini are the best. I

can't say enough about how great those two doctors are. I'm glad that you are in

contact with both of them.

-Steve

Penny Rubalcaba wrote: We finally got to meet with Dr.

Dobyns today. Marz has unilateral polymicrogyria (not pachygyria as the neuro

diagnosed) with heterotopia in one lateral ventricle. Dobyns gave us the full

text version of this document

http://brain.oxfordjournals.org/cgi/content/abstract/128/12/2811 and explained

this best describes what she has. There are some other issues like a smaller

than normal cerebellum and partial agenesis of the corpus collosum and possible

malformation of the hippocampus.

Sounds like a lot wrong but, and this is a huge but, he said that the brain

malformations did not explain the severity of her mental retardation or other

issues. It's more likely the seizures and meds making things worse for her. So

he will be recommending her neuro try something different (Felbamate) and

possibly other treatments (VNS) to help control her Lennox Gastaut. Certainly no

guarantees, LGS is not an easy thing, but its something we can try to fight. It

gave us renewed hope that fighting the LGS is well worth every effort we can

make.

I know many of you have asked about Marz because she is an older child (14)

and I always warn; we don't know how much of her issues are due to the

malformation and how much are due to LGS. I hear some of you describe much worse

diagnosis yet your kids are doing amazing things and I have wondered why is Marz

is not doing at least as well. Dobyns pretty much let us know that the

malformations don't explain the level of her impairment and it's the LGS and

meds making things worse, for us, it's an answer.

And the really big news is that Dobyns gave my husband's 2 adult children a

less than 1% risk factor of them having an affected child. He thinks it's

genetic, but a very rare kind. In fact he said he's never seen malformations

quite like what she has.

I was further elated when he said he was going to consult with Dr. Guerinni

about her case. Guerinni also happens to be probably the worlds greatest LGS

expert so, wow, even more potential for help in our LGS battle.

We went into his office really not expecting much(real point in going was to

be able to put his adult children's minds at ease) but we came away with some

hope, the potential for some small improvement, but at this point, thats huge.

I'm now another Dobyn's groupie.

Penny - Step mom to nela -14 - with Unilateral PNH-PMG (we now have an

acronym for it)

[Guest guest]

Here is what Dr. Guerrini wrote:

The fact that the continuous spike wave activity during sleep is the core of the

disorder is at the basis of the recommended attempts at abating them using anti

spike and wave drugs, such as benzodiazepines, ethosuximide and valproate.

Should these drugs, in various combinations, fail, the treatment of choice

implies the use of steroids/ACTH cycles that can be very effective. The

treatment strategy in this condition is comparable to that used in Landau

Kleffner syndrome, that, with it shares some common mechanisms. I suggest you

try to pursue this line and discuss with your physician the best way to carry

to the end of the active period of this epilepsy disorder, while getting

the smallest possible consequences from the continuous spike and wave activity

Chloe B wrote: Steve,

what is/was Guerrini's treatment given to ? I have not had a precise dx

for Chloe's epilepsy but at times it continuous.(in and out of complex seizures

for maybe 3 or 4 days) She is currently on Lamotrigine and Topirimate. She has

diffuse bilateral pmg

Dom

Re: Saw Dobyns today - Have Some Renewed Hope!

Penny,

I don't want to get you too hopeful, but our neurologist was sure my

had LGS and he would show me spike and wave complexes in the EEG that he said

were classic LGS. I was not convinced because the clinical seizures were not

typical LGS. One way to differentiate the two clinically is if tonic seizures

are present. Tonic seizures are common in LGS but rare in CSWS. never had

tonic only seizures. It wasn't until our doctor agreed to try Guerrini's

treatment and saw the improvement it had on that he finally would accept

that it wasn't LGS. Every time we see him now he tells me how I taught him

something.

What kind of seizures does she have? When did they start? What drugs have you

tried?

-Steve

Penny Rubalcaba wrote: Steve,

I'm so glad to hear that Guerrini was able to give you even more insight and a

plan of action. We hope for the same when Dobyns sends Marz's info to him. I'm

not too hopeful that the diagnosis of LGS will change simply because the slow

spike and wave is continuous or near continuous even while she is awake

according to her EEG. But we are still very hopeful that Guerrini will give us

some answers. If not....it's like said (I know I'm not quoting this

correctly but something like this) " the best you can do has to be enough " and

these guys are the best.

Penny Step Mom to nela - 14 Unilateral PNH-PMG

Steve Barr wrote:

Penny,

My son, , also has unilateral PMG which was diagnosed by Dr. Dobyns. We

did a consult with Dr. Guerrini as well. He diagnosed my son with CSWS rather

than LGS which was his diagnosis at the time. We followed his treatment plan and

has done very well since then. We were lucky to have a neuro that was

willing to listen to us and other doctors. Dobyns and Guerrini are the best. I

can't say enough about how great those two doctors are. I'm glad that you are in

contact with both of them.

-Steve

Penny Rubalcaba wrote: We finally got to meet with Dr.

Dobyns today. Marz has unilateral polymicrogyria (not pachygyria as the neuro

diagnosed) with heterotopia in one lateral ventricle. Dobyns gave us the full

text version of this document

http://brain.oxfordjournals.org/cgi/content/abstract/128/12/2811 and explained

this best describes what she has. There are some other issues like a smaller

than normal cerebellum and partial agenesis of the corpus collosum and possible

malformation of the hippocampus.

Sounds like a lot wrong but, and this is a huge but, he said that the brain

malformations did not explain the severity of her mental retardation or other

issues. It's more likely the seizures and meds making things worse for her. So

he will be recommending her neuro try something different (Felbamate) and

possibly other treatments (VNS) to help control her Lennox Gastaut. Certainly no

guarantees, LGS is not an easy thing, but its something we can try to fight. It

gave us renewed hope that fighting the LGS is well worth every effort we can

make.

I know many of you have asked about Marz because she is an older child (14) and

I always warn; we don't know how much of her issues are due to the malformation

and how much are due to LGS. I hear some of you describe much worse diagnosis

yet your kids are doing amazing things and I have wondered why is Marz is not

doing at least as well. Dobyns pretty much let us know that the malformations

don't explain the level of her impairment and it's the LGS and meds making

things worse, for us, it's an answer.

And the really big news is that Dobyns gave my husband's 2 adult children a

less than 1% risk factor of them having an affected child. He thinks it's

genetic, but a very rare kind. In fact he said he's never seen malformations

quite like what she has.

I was further elated when he said he was going to consult with Dr. Guerinni

about her case. Guerinni also happens to be probably the worlds greatest LGS

expert so, wow, even more potential for help in our LGS battle.

We went into his office really not expecting much(real point in going was to be

able to put his adult children's minds at ease) but we came away with some hope,

the potential for some small improvement, but at this point, thats huge. I'm now

another Dobyn's groupie.

Penny - Step mom to nela -14 - with Unilateral PNH-PMG (we now have an

acronym for it)