Re: a n ew problem

[Guest guest]

Hey Deb :-)

In our case, Chance's wetting episodes have always seemed to be related

to seizures, so definatly something worth checking out. It might

well give you some clues about the regression too....we suspect that Chance's

regression and fluctuating skills are related to the seizures too.

Please keep us posted....just so sorry you all are having to watch this.

I know when Chance had his severe regression last year it was the most

heart wrenching, panic situation I had ever been in.

One last thought......the only thing that pulled Chance out of his last

year was starting him on CoQ10. It was a slow recovery, but after

almost 2 months of him being lost to us, he did come back slowly but surely.

Not all kids are going to respond so dramatically, but after having the

docs tell me that there was nothing more they could do, that this just

"somtimes happens", and that they were sorry, I felt like we didn't have

anything to lose to give the CoQ a try and see what happens. This

was all pre-mito dx (started the CoQ January 1 and saw Cohen the end of

February). I thought for sure Dr. C would think I was crazy when

I told him the results we had seen, and while he said it was definatly

dramatic, he had seen this kind of response before.

Oh, another one.......I suspect that there is a possibility that some

of Chance's issues, especially when he was regressing so badly, were Lactic

Acid related (his was elevated when we made it to Cleveland and this was

after he had regained alot of ground from where he had been), so maybe

ask about getting the Lactic Acid checked and see if there are any clues

there to whats going on.

Hope this helps hun. I know the pain that comes with watching

things go downhill quickly in an area where there doesn't seem to be much

anyone can do. I am here if ya need to talk.

BIG hugs,

Kass

VisibleWorship@... wrote:

hey there

our son continues to regress...in fact, my husband and I think that

within a

month, it is possible that we wont be able to understand anything

he says

anymore and since he is loosing fine motor and cognative skills,

I don't know

if signing will work...but then there is a new symptom/problem

for the last four days, has urinated on himself...he is embarrassed

about it and doesn't tell me right away...in fact, I am not sure

he notices

until later...he can't tell me why it happened or why he didn't

make it to

the potty...I can't only remember him having a few accidents in

the last few

years, but never close together...

I guess I am going to call the neuro tomorrow, but don't know what

he will

say, he has given up hope on finding out what is wrong...I j ust

feel

helpless b/c I don't know what to do and the doc doesn't know what

to do and

b/c the blood work hasn't shown anything significant, but

I feel we have to

do something...I have never mentioned to our neuro my slight suspection

of

drop siezures and mytonic seizures while sleeping, but I plan to

ask for an

EEG, which I think will help...anyway, anyone know about the urine

thing? I

am guessing it is just anohter muscle loss...

deb

[Guest guest]

HI Deb, Brigitte doesn't have seizures but isn't able to control her kidneys at all and bowels are getting worse. The doc. said it was a part of losing control of her nerves and muscles. Today has been a real challenge cause she had a biopsy monday and isn't doing to well. They also put botox in her legs so i'm wondering if that might be more her problem today. Well didn't mean to go on but just having a ruff day and needed to vent. Sorry it was on you. Hpoe to hear from you soon. mom to Brigitte

Re: a n ew problem

Hey Deb :-) In our case, Chance's wetting episodes have always seemed to be related to seizures, so definatly something worth checking out. It might well give you some clues about the regression too....we suspect that Chance's regression and fluctuating skills are related to the seizures too. Please keep us posted....just so sorry you all are having to watch this. I know when Chance had his severe regression last year it was the most heart wrenching, panic situation I had ever been in. One last thought......the only thing that pulled Chance out of his last year was starting him on CoQ10. It was a slow recovery, but after almost 2 months of him being lost to us, he did come back slowly but surely. Not all kids are going to respond so dramatically, but after having the docs tell me that there was nothing more they could do, that this just "somtimes happens", and that they were sorry, I felt like we didn't have anything to lose to give the CoQ a try and see what happens. This was all pre-mito dx (started the CoQ January 1 and saw Cohen the end of February). I thought for sure Dr. C would think I was crazy when I told him the results we had seen, and while he said it was definatly dramatic, he had seen this kind of response before. Oh, another one.......I suspect that there is a possibility that some of Chance's issues, especially when he was regressing so badly, were Lactic Acid related (his was elevated when we made it to Cleveland and this was after he had regained alot of ground from where he had been), so maybe ask about getting the Lactic Acid checked and see if there are any clues there to whats going on. Hope this helps hun. I know the pain that comes with watching things go downhill quickly in an area where there doesn't seem to be much anyone can do. I am here if ya need to talk. BIG hugs, Kass VisibleWorship@... wrote: hey there our son continues to regress...in fact, my husband and I think that within a month, it is possible that we wont be able to understand anything he says anymore and since he is loosing fine motor and cognative skills, I don't know if signing will work...but then there is a new symptom/problem for the last four days, has urinated on himself...he is embarrassed about it and doesn't tell me right away...in fact, I am not sure he notices until later...he can't tell me why it happened or why he didn't make it to the potty...I can't only remember him having a few accidents in the last few years, but never close together... I guess I am going to call the neuro tomorrow, but don't know what he will say, he has given up hope on finding out what is wrong...I j ust feel helpless b/c I don't know what to do and the doc doesn't know what to do and b/c the blood work hasn't shown anything significant, but I feel we have to do something...I have never mentioned to our neuro my slight suspection of drop siezures and mytonic seizures while sleeping, but I plan to ask for an EEG, which I think will help...anyway, anyone know about the urine thing? I am guessing it is just anohter muscle loss... deb Please contact mito-owner with any problems or questions.

[Guest guest]

Brigitte doesn't have seizures but isn't able to control her kidneys at all and bowels are getting worse. The doc. said it was a part of losing control of her nerves and muscles. Today has been a real challenge cause she had a biopsy monday and isn't doing to well. They also put botox in her legs so i'm wondering if that might be more her problem today. Well didn't mean to go on but just having a ruff day and needed to vent. Sorry it was on you. Hpoe to hear from you soon. mom to Brigitte

no prob on the venting...I talked to the doc last night and he is going to do a first morning urine and decide whether should see an endocronologist, a urologist or a nephrologist...so I guess we will figure it out...

deb

[Guest guest]

In our case, Chance's wetting episodes have always seemed to be related to seizures, so definatly something worth checking out. It might well give you some clues about the regression too....we suspect that Chance's regression and fluctuating skills are related to the seizures too. Please keep us posted....just so sorry you all are having to watch this. I know when Chance had his severe regression last year it was the most heart wrenching, panic situation I had ever been in.

I a m going to reply to your email in three pieces...hope no one minds...I talked to the neuro last night...he once again said that in Memphis, we are not likely to get a dx...he suggested Little Rock, but thta is going to be as difficult as getting to Shoffner since it is a state deal...of course, logistically it is a little better...anyway, we are having an EEG thursday morning and also a first-morning urine to help them figure out where he needs to go for that problem...I think he is having myotonic seizures only at night, so would they still show up? Or do we need a sleep study?

deb

[Guest guest]

One last thought......the only thing that pulled Chance out of his last year was starting him on CoQ10. It was a slow recovery, but after almost 2 months of him being lost to us, he did come back slowly but surely. Not all kids are going to respond so dramatically, but after having the docs tell me that there was nothing more they could do, that this just "somtimes happens", and that they were sorry, I felt like we didn't have anything to lose to give the CoQ a try and see what happens. This was all pre-mito dx (started the CoQ January 1 and saw Cohen the end of February). I thought for sure Dr. C would think I was crazy when I told him the results we had seen, and while he said it was definatly dramatic, he had seen this kind of response before.

I wouldn't know where to start with this, but am fairly open to it...I have discussed this a little bit with our neuro and I think he wants to wait to see if we can get a dx first...would it mask the symptoms?

also, tomorrow, we go to a new pediatrician, who's office specializes in chronically ill and complex children...so I am hoping they have something new to reveal...also my neuro mentioned the possibility of Adrenoleukodystrophy but feels something would have shown up on the MRI but thinks it could still happen...is that somehow related to Mito? seems like I saw some mito info mentioning ALD...

deb

[Guest guest]

Oh, another one.......I suspect that there is a possibility that some of Chance's issues, especially when he was regressing so badly, were Lactic Acid related (his was elevated when we made it to Cleveland and this was after he had regained alot of ground from where he had been), so maybe ask about getting the Lactic Acid checked and see if there are any clues there to whats going on. Hope this helps hun. I know the pain that comes with watching things go downhill quickly in an area where there doesn't seem to be much anyone can do. I am here if ya need to talk.

we have had th e LD test...and then the lactic/pyruvate...LD was elevated the first time we did it and the others were normal, however were NOT done after a fast like reccommended...

it is horribly hard to watch it all...it is especially difficult after the weekend of being with him all the t ime...we just notice more and have more time to think about it...he has not quite reached the part where he is super frustrated or noticed he can't do things he could, but I know that is coming anyday...I dread it...he can have an explosive temper (never hurts himself or others) bu t just has a hard time controlling himself...

deb

[Guest guest]

Hi Deb :-)

I think your doc is sadly right about needing to get somewhere else

to get this dx. I sure wish I had some ideas on how to get you there!!!

Good to hear they are doing the EEG. A sleep deprived short EEG

is far from the "gold standard" for catching seizures, but there are plenty

of people that get results from these and its less traumatic for the kids

than one thats longer. They do attempt to get the kids to sleep during

part of test, so there is a chance that it might show up if he is able

to sleep long enough for the movements to start. If nothing gets

caught on this one, and you still feel like he is seizing, there are a

couple of other options for later on down the road. One would be

a 24 hour EEG, where you all would go into the hospital and they would

monitor him for 24 hours....this is going to be more likely to catch something

than the shorter one for obvious reasons. The other is a new things

called a Digitrace. With the Digitrace you go in and they hook up

all the leads, but then your able to go home and they can wear them for

2-3 days, making the liklihood of getting something even greater.

Sadly EEG's are not 100%, and as our epileptologist said from the start,

you could chase an abnormal EEG till the cows come home and might never

get one that shows the seizures (and this is the case sometimes even when

there are very obvious seizures happening). So much depends on where

in the brain the seizure is happening, and being able to have them hooked

up at just the right time.

Will be thinking about you guys tomorrow and hope maybe there are some

answers to be had.

BIG hugs,

Kass

VisibleWorship@... wrote:

I

a m going to reply to your email in three pieces...hope no one minds...I

talked to the neuro last night...he once again said that in Memphis, we

are not likely to get a dx...he suggested Little Rock, but thta is going

to be as difficult as getting to Shoffner since it is a state deal...of

course, logistically it is a little better...anyway, we are having an EEG

thursday morning and also a first-morning urine to help them figure out

where he needs to go for that problem...I think he is having myotonic seizures

only at night, so would they still show up? Or do we need a sleep

study?

deb

[Guest guest]

Hi Again :-)

VisibleWorship@... wrote:

In

a message dated 2/12/02 12:08:33 PM Central Standard Time, kass@...

writes:

One

last thought......the only thing that pulled Chance out of his last year

was starting him on CoQ10. It was a slow recovery, but after almost

2 months of him being lost to us, he did come back slowly but surely.

Not all kids are going to respond so dramatically, but after having the

docs tell me that there was nothing more they could do, that this just

"somtimes happens", and that they were sorry, I felt like we didn't have

anything to lose to give the CoQ a try and see what happens. This

was all pre-mito dx (started the CoQ January 1 and saw Cohen the end of

February). I thought for sure Dr. C would think I was crazy when

I told him the results we had seen, and while he said it was definatly

dramatic, he had seen this kind of response before.

I wouldn't know where to

start with this, but am fairly open to it...I have discussed this a little

bit with our neuro and I think he wants to wait to see if we can get a

dx first...would it mask the symptoms?

This is hard to answer!! The hope would be that it would improve

symptoms, so in a sense I guess it could "mask" things to an extent.

We went ahead with the trial of the CoQ before seeing Cohen as much for

empirical evidence as anything else. In other words, if it helped,

we felt like that might point towards a higher liklihood of it being mito,

whereas if it did not, it would not rule it out by any stretch, but we

would just know that he wasn't going to be one of the ones helped by the

CoQ as much as some others. At the time, he had regressed so badly

I was willing to try anything and didn't even think about whether it making

things better might be an issue while we looked for answers....I can see

the logic in that though!!! In the end, it worked out fine for us

and Dr. C just took my word for what we had experienced. The only

other downside to starting the CoQ would be that you would have to take

him off it for a period of time before a muscle biopsy could be done because

there is a concern that it could alter the results. Ultimatly, it

made ALL the difference for Chance at that time and we got our kiddo back.

also,

tomorrow, we go to a new pediatrician, who's office specializes in chronically

ill and complex children...so I am hoping they have something new to reveal...also

my neuro mentioned the possibility of Adrenoleukodystrophy but feels something

would have shown up on the MRI but thinks it could still happen...is that

somehow related to Mito? seems like I saw some mito info mentioning

ALD...

I am pretty sure that with ADL you would have seen myelin issues on the

MRI. I could be wrong though, so don't quote me on that!! We

looked at the leukodystrophies in Madison at one point because she has

myelin issues (the assumptions was it was delayed myelin, but no one could

say for sure initially), but I don't remember whether there was a chance

of having them without the MRI changes typically seen. Myelin issues

can be seen with mito, although I am not sure whether there is a connection

to leukodystrophies and mito.

Hope the new ped is amazing!!!

BIG hugs,

Kass

[Guest guest]

Hi again :-)

VisibleWorship@... wrote:

we

have had th e LD test...and then the lactic/pyruvate...LD was elevated

the first time we did it and the others were normal, however were NOT done

after a fast like reccommended...

Might be something to try and get right now.....just to see what it says.

As I said, its just a suspicion on my part with Chance (we know his LA

is elevated, but its only a suspicion of mine that when he is having problems

it is even more so), and who the heck knows if I even have a clue!!

LOL

it is

horribly hard to watch it all...it is especially difficult after the weekend

of being with him all the t ime...we just notice more and have more time

to think about it...he has not quite reached the part where he is super

frustrated or noticed he can't do things he could, but I know that is coming

anyday...I dread it...he can have an explosive temper (never hurts himself

or others) bu t just has a hard time controlling himself...

{{{{{Deb}}}}} Prayers are being sent hun.

BIG hugs,

Kass

[Guest guest]

VisibleWorship@a... wrote:

I a m going to reply to your email in three pieces...hope no one

minds...I talked to the neuro last night...he once again said that in

Memphis,we are not likely to get a dx...he suggested Little Rock, but

thta is going to be as difficult as getting to Shoffner since it is a

state deal...

We live in Arkansas and use Arkansas Children's Hospital in Little

Rock for our specialty care. If you would like to contact me off

list, I would be happy to give you some input before you decide to

make the trip to Little Rock.

In my opinion, if your going to have to travel, you might as well go

someplace that is well known for mito evaluation, and Little Rock

certainly does not meet that criteria. I'm not sure it's worth the

effort to travel someplace, and then have them do a frozen biopsy. If

you have to travel, make it to someplace that has the capability to do

fresh biopsies, like Atlanta.

If you are just looking for supportive care, or other evaluation, then

there may be other options.

Jeannine