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]

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]

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,

O

When 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 Enrique

Visit our web page: WWW. caringbridge.org/ca/mitooggo

Help 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 :-)

[Guest guest]

Hi ,

I got a kick out of your last paragraph! Sorry to hear about the NVD.

Thinking about you and praying for you all,

Shirley, mom to and Jordan

> 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,

>

> O

>

> When 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 Enrique

> Visit our web page: WWW. caringbridge.org/ca/mitooggo

>

> Help 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.

>

>

>

>

[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]

Well said . We laugh that Leah's skin cells have traveled

more than we have as a family. I feel mitochondrial disease is her

diagnosis because it is such a large umbrella we don't go explaining to

people either that we don't have the "official" name for her mito.

We concentrate on what she needs now and what she offers to our family.

I'm sure if Leah had more issues I would want better answers; but for now

we accept what information we have and use that knowledge to educate us

further and those around us. Leah is a gift to us. We keep

unwrapping her many talents each year. And those unwrapping of layers

surprise us more than we realize when she accomplishes something.

Don't be focusing on what exactly your child may have. Focus on what

you know and how to be with your child now and if more information comes

along so be it. But many times the treatment won't change with the

diagnosis unless it's diet or your child starts having seizures and you

need meds for that. My only concern is for her brothers if it's something

they need to worry about when they marry and want to have children.

That part of the future I would like to know for them.

Nerenhausen

mom to Leah

Gianino wrote:

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.

Please contact mito-owner with any problems or questions.

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