Need your thoughts, please

[Guest guest]

Hi all,

I'm in the last few weeks of the 12 week timeline that Shoffner gave us for analyzing Asher's muscle and skin biopsy, as well as blood, urine and CSF labs and I'm getting quite nervous. I hope I don't sound too bizarre when I saw what I'm afraid of is one of the "non-specific" diagnoses. I'm also afraid of the more serious mito dx but Shoffner said he was fairly confident that Asher did not have the types of mito that end up in death. And, I'm trying to believe him in that as well.

For those of you who've had the muscle/skin biopsies, have any of you ended up with a 'wastebasket' dx such as "non-specific congenital myopathy"? Are there other diagnosis that you've ended up with that didn't seem to capture what was going on with your child? Given Asher's severe intestinal dysmotility requiring a g-tube, his muscle weakness, hyporeflexes, hyperflexibility, fatigue, and fluctuating development, I'm strongly suspecting either a mitochondrial myopathy or some other metabolic disorder. If you have received the "non-specific congenital myopathy" dx, have you pursued any other avenues of dx or treatment? Is there anything more I can do to find out what's going on with my son if I get such an unhelpful diagnosis?

Trying not to be too anxious as we wait for results.

Anne R

[Guest guest]

My daughter has a nonspecific mito. Dr. Cohen is running some further testing to verify a F. O. D. but as far as a specific mito, he said we will probably never have one. I guess her mitochondria are all mutated, and they are all on the low side of normal as far as yield. I guess it is frustrating not being able to say exactly what is wrong with her, and that you have to explain it. But, at least we know something. I never would want to go back a year ago and have no idea at all what was destroying her body. Even with the nonspecific her medications are custom to her needs, and they work great. We do not know what the future holds, because she is the first one of her type, but does any of us really know what will happen to us 10 years from now 5 years or even tomorrow. Be strong, even with a nonspecific diagnosis you are better than nothing. Best of luck to you.

[Guest guest]

What exactly is nuro vascular dystrophy and what are the symptoms? Darla: mommy to Asenath, Zipporrah, and the gang Re: Need your thoughts, please Anne, I fully understand your anxiety!We went through 4 different Mito diagnosis of like symptoms before we are at where we are at of the MIDS diagnosis with Mito myopathy. It is very frustrating unnerving and scary while you wait, and I don't want to be the bearer of bad news but for us the journey still continues as we were just diagnosed with the NVD, as well Nuro Vascular Dystrophy in all three of the kids. You have to just rest in the love you have for that precious child, and hang on to the bar while on the roller coaster. It will be a ride for sure! We are on year 13, and things are still as exciting as ever! Try to find some level of peace while you wait! Don't let fear rob you! You have plenty of time for the fear, fright and frustration, I refer to them as the "f" words of this disease, that comes with this disease. "F" words are bad things, and not worth your time to listen to or say, so stay away from them!!!!!!Hugs for you and with you as you wait,big hugs to you, OWhen the door of happiness closes, another opens, but often times we spend so much time looking at the closed door, we don't see the open door. Look for the open doors!HUGS! O and crew - Kira,, and Krisalynn Mitochondrial Myopathy-MIDS Maternally Inherited Dysautonomia- NVD ( Nuro Vascular Dystrophy) and dad EnriqueVisit our web page: WWW. caringbridge.org/ca/mitooggoHelp support my sister in her new business at : Come and see what's NEW! http://www.youravon.com/elleenmiller Your AVON representative (Sign in passcode: ElleensAVON if you are signing in for the first time :-)Please contact mito-owner with any problems or questions. Get more from the Web. FREE MSN Explorer download : http://explorer.msn.com

[Guest guest]

What exactly is nuro vascular dystrophy and what are the symptoms? Darla: mommy to Asenath, Zipporrah, and the gang Re: Need your thoughts, please Anne, I fully understand your anxiety!We went through 4 different Mito diagnosis of like symptoms before we are at where we are at of the MIDS diagnosis with Mito myopathy. It is very frustrating unnerving and scary while you wait, and I don't want to be the bearer of bad news but for us the journey still continues as we were just diagnosed with the NVD, as well Nuro Vascular Dystrophy in all three of the kids. You have to just rest in the love you have for that precious child, and hang on to the bar while on the roller coaster. It will be a ride for sure! We are on year 13, and things are still as exciting as ever! Try to find some level of peace while you wait! Don't let fear rob you! You have plenty of time for the fear, fright and frustration, I refer to them as the "f" words of this disease, that comes with this disease. "F" words are bad things, and not worth your time to listen to or say, so stay away from them!!!!!!Hugs for you and with you as you wait,big hugs to you, OWhen the door of happiness closes, another opens, but often times we spend so much time looking at the closed door, we don't see the open door. Look for the open doors!HUGS! O and crew - Kira,, and Krisalynn Mitochondrial Myopathy-MIDS Maternally Inherited Dysautonomia- NVD ( Nuro Vascular Dystrophy) and dad EnriqueVisit our web page: WWW. caringbridge.org/ca/mitooggoHelp support my sister in her new business at : Come and see what's NEW! http://www.youravon.com/elleenmiller Your AVON representative (Sign in passcode: ElleensAVON if you are signing in for the first time :-)Please contact mito-owner with any problems or questions. Get more from the Web. FREE MSN Explorer download : http://explorer.msn.com

[Guest guest]

Hello,

We did do the Dr.Shoffner route and unfortunately we did get the 'non-specific'

diagnosis. When we were told we were extremely conflicted. What did that

dx tell us? Well, we were told that as few as 5% ever come back with a specific

form of Mito-I believe that if I had known that ahead of time we would not

have put my daughter through all of that. But, here we are. We tell people

she has mitochondrial disease-we leave off the non-specific part. We were

told that down the road a year or 2 or more they'll be able to test further

into the mitochondria cells. Right now we know there's something wrong but

it doesn't have a 'specific' name. We have moved past that now. The issues

of day to day care are more important than a label. This leaves us room

for anything; good or bad. The name is just a name-the treatment is what

we concentrate on now. But if you do receive that non-specific diagnosis-know

you're not alone. Feel as bad as you want but then hold your child a little

tighter and remember...today is a gift.

Mom to Nikki non-specific Mito/CVS/GERD

AReckling@... wrote:

Hi all,

I'm in the last few weeks of the 12 week timeline that Shoffner gave us

for analyzing Asher's muscle and skin biopsy, as well as blood, urine and

CSF labs and I'm getting quite nervous. I hope I don't sound too bizarre

when I saw what I'm afraid of is one of the "non-specific" diagnoses. I'm

also afraid of the more serious mito dx but Shoffner said he was fairly confident

that Asher did not have the types of mito that end up in death. And, I'm

trying to believe him in that as well.

For those of you who've had the muscle/skin biopsies, have any of you ended

up with a 'wastebasket' dx such as "non-specific congenital myopathy"? Are

there other diagnosis that you've ended up with that didn't seem to capture

what was going on with your child? Given Asher's severe intestinal dysmotility

requiring a g-tube, his muscle weakness, hyporeflexes, hyperflexibility,

fatigue, and fluctuating development, I'm strongly suspecting either a mitochondrial

myopathy or some other metabolic disorder. If you have received the "non-specific

congenital myopathy" dx, have you pursued any other avenues of dx or treatment?

Is there anything more I can do to find out what's going on with my son if

I get such an unhelpful diagnosis?

Trying not to be too anxious as we wait for results.

Anne R

Please contact mito-owner with any problems or questions.

[Guest guest]

Hello,

We did do the Dr.Shoffner route and unfortunately we did get the 'non-specific'

diagnosis. When we were told we were extremely conflicted. What did that

dx tell us? Well, we were told that as few as 5% ever come back with a specific

form of Mito-I believe that if I had known that ahead of time we would not

have put my daughter through all of that. But, here we are. We tell people

she has mitochondrial disease-we leave off the non-specific part. We were

told that down the road a year or 2 or more they'll be able to test further

into the mitochondria cells. Right now we know there's something wrong but

it doesn't have a 'specific' name. We have moved past that now. The issues

of day to day care are more important than a label. This leaves us room

for anything; good or bad. The name is just a name-the treatment is what

we concentrate on now. But if you do receive that non-specific diagnosis-know

you're not alone. Feel as bad as you want but then hold your child a little

tighter and remember...today is a gift.

Mom to Nikki non-specific Mito/CVS/GERD

AReckling@... wrote:

Hi all,

I'm in the last few weeks of the 12 week timeline that Shoffner gave us

for analyzing Asher's muscle and skin biopsy, as well as blood, urine and

CSF labs and I'm getting quite nervous. I hope I don't sound too bizarre

when I saw what I'm afraid of is one of the "non-specific" diagnoses. I'm

also afraid of the more serious mito dx but Shoffner said he was fairly confident

that Asher did not have the types of mito that end up in death. And, I'm

trying to believe him in that as well.

For those of you who've had the muscle/skin biopsies, have any of you ended

up with a 'wastebasket' dx such as "non-specific congenital myopathy"? Are

there other diagnosis that you've ended up with that didn't seem to capture

what was going on with your child? Given Asher's severe intestinal dysmotility

requiring a g-tube, his muscle weakness, hyporeflexes, hyperflexibility,

fatigue, and fluctuating development, I'm strongly suspecting either a mitochondrial

myopathy or some other metabolic disorder. If you have received the "non-specific

congenital myopathy" dx, have you pursued any other avenues of dx or treatment?

Is there anything more I can do to find out what's going on with my son if

I get such an unhelpful diagnosis?

Trying not to be too anxious as we wait for results.

Anne R

Please contact mito-owner with any problems or questions.

[Guest guest]

Hello,

We did do the Dr.Shoffner route and unfortunately we did get the 'non-specific'

diagnosis. When we were told we were extremely conflicted. What did that

dx tell us? Well, we were told that as few as 5% ever come back with a specific

form of Mito-I believe that if I had known that ahead of time we would not

have put my daughter through all of that. But, here we are. We tell people

she has mitochondrial disease-we leave off the non-specific part. We were

told that down the road a year or 2 or more they'll be able to test further

into the mitochondria cells. Right now we know there's something wrong but

it doesn't have a 'specific' name. We have moved past that now. The issues

of day to day care are more important than a label. This leaves us room

for anything; good or bad. The name is just a name-the treatment is what

we concentrate on now. But if you do receive that non-specific diagnosis-know

you're not alone. Feel as bad as you want but then hold your child a little

tighter and remember...today is a gift.

Mom to Nikki non-specific Mito/CVS/GERD

AReckling@... wrote:

Hi all,

I'm in the last few weeks of the 12 week timeline that Shoffner gave us

for analyzing Asher's muscle and skin biopsy, as well as blood, urine and

CSF labs and I'm getting quite nervous. I hope I don't sound too bizarre

when I saw what I'm afraid of is one of the "non-specific" diagnoses. I'm

also afraid of the more serious mito dx but Shoffner said he was fairly confident

that Asher did not have the types of mito that end up in death. And, I'm

trying to believe him in that as well.

For those of you who've had the muscle/skin biopsies, have any of you ended

up with a 'wastebasket' dx such as "non-specific congenital myopathy"? Are

there other diagnosis that you've ended up with that didn't seem to capture

what was going on with your child? Given Asher's severe intestinal dysmotility

requiring a g-tube, his muscle weakness, hyporeflexes, hyperflexibility,

fatigue, and fluctuating development, I'm strongly suspecting either a mitochondrial

myopathy or some other metabolic disorder. If you have received the "non-specific

congenital myopathy" dx, have you pursued any other avenues of dx or treatment?

Is there anything more I can do to find out what's going on with my son if

I get such an unhelpful diagnosis?

Trying not to be too anxious as we wait for results.

Anne R

Please contact mito-owner with any problems or questions.