Re: New-have been lurking & have lots of ?s

[Guest guest]

Dear Kim,

I read your story about Madison, and my heart started to beat

immensely as I continued. I have 2 girls, Samya and Leanna. Samya died at age 8

in Deceber 2002 from Mito.

Leanna also has mito

and is almost 7 years old. I don’t want to go into details right now

about my girls as I know you have so much on your plate. I do not always

respond to post, unless they really hit me hard, or I see a story where I want

to speak out in the hope that I might help. My girls’ story is on Samya’s

website at www.samya.org. When you have

time, please read it (the long one) not because I want to scare you, but

because your daughter sound so similar to Samya. Mind you, Samya went

undiagnosed all her life until she was in her last week of life in the ICU.

Samya also had no testing pointing to mito

and looked so damn normal, but had a lot of delays. The only test that

indicated mito

was a blood DNA test and a muscle biopsy they did while she was dying. I do

know however, that sometimes even a blood DNA can come back normal, and only a

muscle biopsy will show. I do understand your dilemma, because a muscle biopsy

will be the only way to be sure, but the procedure may also cause harm. I do

not envy your decision. It is tough. With Samya., we had no indication of mito at the time they performed

the biopsy so we did not even have to worry about the harm it might cause. However,

looking bach, I do not think the biopsy hurt her at that point, she was already

dying and beyond help. Howeve, with mito, any use

of anesthetic or sedation must be carefuylly planned with consult from a mito specialist, because the

harm can be terrible. I will tell you that Samya was sedated for a brain MRI they

year before, got very sick and I believe her downhill deteriorated was triggered

at that point and a year later, she died. At the time, they were trying to diagnose

her, but we never heard of or were even told that mito was being considered so we did not know that

this might be harmful. Now, we know with Leanna and luckily got a diagnosis from

a simple blood DNA test, and never had to do a muscle biopsy.

I am not a doctor, but in all honesty Madiso

sounds so similar to Samya, I got a lump in my throat. I have not found ot heard

of many kids that seemed so similar to Samya yet. However, please don’t panic,

because this disease is so complicated that may not mean anything anyways. In fact,

they could have totally different forms of the disease, which could mean Madison’s outcome and

prognosis would be much better.

I do know from our geneticist that now we

know enough about mito that, in most cases, children

with mito can undergo sedation without harm as long

as it is done with the mito

in mind. For example, they know which tyoes of drugs to not use, they know to IV

throughout so there is no fasting etc. IF you do decide to do the biopsy, just be

very diligent with the choice of drugs, and keep in mind that if you are pretty

sure she has mito,

what does a confirmed diagnosis change ? Will it help her? These are important to

consider. I also know how hard it is to live for 8 years with a child that has problems

but not know why? Please feel free to e-mail me, even privately if you like for

anything. I want to help in any way I can other parents to keep them from suffering

what I did for so long without answers. If you read Samya’s story, you will

understand what I mean by similar.

Good

luck and God bless,

Suhad Haddad -- Mom to Samya (Died 12-10-02 of Leigh's Synd.) &

Leanna with same disease.

Samya's Memorial Site: www.Samya.org

Email:

Suhad1970@...

Alt Email:

Suhad@...

AiM Chat: Suhad1970

From: mkbarrow2

Sent: Wednesday, March 10, 2004

4:54 PM

To: Mito

Subject: New-have been lurking & have lots

of ?s

Hi~my name is Kim and my 5 yr old Madison

is being " watched " for

mito. This is how it all started:I had lots of vomiting

throughout

her pg. She slept ALL the time as an infant,

delayed milestones but

not enough for the drs to be concerned when she

was an infant. Her

head size was very lg and was checked for fluid

and it all came back

fine. Her head still grew lots and is still

very lg. 2yrs-she had 3

seizures in a 5 mo. time frame. All eegs

normal so I was told to

call when she has another. She was not

talking like others so at age

3 I had her developmentally tested. She was

delayed in all areas w/

hypotonia. Started therapy and we are still

in therapy. Started

seeing a genetics at 3 1/2 due to

birthmarks,delays,etc. At age 4

the genetic wanted another eeg b/c she saw some

tremoring. The eeg

came back moderately abnormal but the nuero said

it is not an

epileptic reading. She has spikes but are

not all the way through

the reading. So that was last May. We

had another eeg in Sept and

it read the same way. Madi complains about

her legs hurting and she

fatigues easily. The genetic dr started labs

for mito.

All her

testing has been normal. Chromosome, DNA,

you name whatever blood,

urine test-we have had it done. The dr. is

suggesting the muscle

biopsy. I just do not know if we need to do

all that. To look at

Madison, she seems normal and alot of my friends do not

understand.

My fear is Madison

getting worse when we could be helping her. I

have been lurking for months and all of you are

very knowledgeable.

We went to the nuero Monday and he said maybe we

should do the test.

I asked about it being frozen or fresh biopsy and

he said it did not

matter. From what I read it needs to be

fresh-is that correct? I

also gave him an article about abnormal eeg

movements and mito

and he

had never heard of it. Any info would be

helpfull. Sorry for being

so long. Kim

Please

contact mito-owner with any problems or questions.

[Guest guest]

Kim, Welcome to the group. My son, Wyatt age 5, was not diagnosed

until he was 4. Like your daughter all of his blood work kept

coming back normal. It wasn't until he was sick and we ran blood

tests and urine tests did it show that his levels were elevated.

From there we had a skin biopsy done at Mayo. This past January we

had a muscle biopsy done to confirm the diagnosis. We are still

waiting for the results. If you are not ready to jump in and have a

muscle biopsy you may want to try the route we did. Wait until she

is sick and see what the tests say. I also wanted to let you know

that my son has an abnormal background activity on his EEG's and

does have seizures. If you have any other questions, just ask.

Someone in the group should be able to help.

Geri-Anne and Wyatt, Complex I

> Hi~my name is Kim and my 5 yr old Madison is being " watched " for

> mito. This is how it all started:I had lots of vomiting

throughout

> her pg. She slept ALL the time as an infant, delayed milestones

but

> not enough for the drs to be concerned when she was an infant.

Her

> head size was very lg and was checked for fluid and it all came

back

> fine. Her head still grew lots and is still very lg. 2yrs-she

had 3

> seizures in a 5 mo. time frame. All eegs normal so I was told to

> call when she has another. She was not talking like others so at

age

> 3 I had her developmentally tested. She was delayed in all areas

w/

> hypotonia. Started therapy and we are still in therapy. Started

> seeing a genetics at 3 1/2 due to birthmarks,delays,etc. At age 4

> the genetic wanted another eeg b/c she saw some tremoring. The

eeg

> came back moderately abnormal but the nuero said it is not an

> epileptic reading. She has spikes but are not all the way through

> the reading. So that was last May. We had another eeg in Sept

and

> it read the same way. Madi complains about her legs hurting and

she

> fatigues easily. The genetic dr started labs for mito. All her

> testing has been normal. Chromosome, DNA, you name whatever

blood,

> urine test-we have had it done. The dr. is suggesting the muscle

> biopsy. I just do not know if we need to do all that. To look at

> Madison, she seems normal and alot of my friends do not

understand.

> My fear is Madison getting worse when we could be helping her. I

> have been lurking for months and all of you are very

knowledgeable.

> We went to the nuero Monday and he said maybe we should do the

test.

> I asked about it being frozen or fresh biopsy and he said it did

not

> matter. From what I read it needs to be fresh-is that correct? I

> also gave him an article about abnormal eeg movements and mito and

he

> had never heard of it. Any info would be helpfull. Sorry for

being

> so long. Kim

[Guest guest]

Kim, Welcome to the group. My son, Wyatt age 5, was not diagnosed

until he was 4. Like your daughter all of his blood work kept

coming back normal. It wasn't until he was sick and we ran blood

tests and urine tests did it show that his levels were elevated.

From there we had a skin biopsy done at Mayo. This past January we

had a muscle biopsy done to confirm the diagnosis. We are still

waiting for the results. If you are not ready to jump in and have a

muscle biopsy you may want to try the route we did. Wait until she

is sick and see what the tests say. I also wanted to let you know

that my son has an abnormal background activity on his EEG's and

does have seizures. If you have any other questions, just ask.

Someone in the group should be able to help.

Geri-Anne and Wyatt, Complex I

> Hi~my name is Kim and my 5 yr old Madison is being " watched " for

> mito. This is how it all started:I had lots of vomiting

throughout

> her pg. She slept ALL the time as an infant, delayed milestones

but

> not enough for the drs to be concerned when she was an infant.

Her

> head size was very lg and was checked for fluid and it all came

back

> fine. Her head still grew lots and is still very lg. 2yrs-she

had 3

> seizures in a 5 mo. time frame. All eegs normal so I was told to

> call when she has another. She was not talking like others so at

age

> 3 I had her developmentally tested. She was delayed in all areas

w/

> hypotonia. Started therapy and we are still in therapy. Started

> seeing a genetics at 3 1/2 due to birthmarks,delays,etc. At age 4

> the genetic wanted another eeg b/c she saw some tremoring. The

eeg

> came back moderately abnormal but the nuero said it is not an

> epileptic reading. She has spikes but are not all the way through

> the reading. So that was last May. We had another eeg in Sept

and

> it read the same way. Madi complains about her legs hurting and

she

> fatigues easily. The genetic dr started labs for mito. All her

> testing has been normal. Chromosome, DNA, you name whatever

blood,

> urine test-we have had it done. The dr. is suggesting the muscle

> biopsy. I just do not know if we need to do all that. To look at

> Madison, she seems normal and alot of my friends do not

understand.

> My fear is Madison getting worse when we could be helping her. I

> have been lurking for months and all of you are very

knowledgeable.

> We went to the nuero Monday and he said maybe we should do the

test.

> I asked about it being frozen or fresh biopsy and he said it did

not

> matter. From what I read it needs to be fresh-is that correct? I

> also gave him an article about abnormal eeg movements and mito and

he

> had never heard of it. Any info would be helpfull. Sorry for

being

> so long. Kim

[Guest guest]

Kim,

It sounds to me like your gut is telling you someting, and that you should listen to that mother's instinct. i hate it when doctors poo-poo us and dismiss our concerns and fears. you have reason to be concerned and proceed with finding answers to those questions in your mind. if it comes to nothing, then you will have that peace of mind and Madi will have a small scar on her thigh. if you are right, then you will have a much better idea of how to give your daughter the best possible treatment you can. listen to your docs, but above all listen to your gut.

hope this helps

ruth

mom to Mitch (nearly 9) and Lexi (6 next week) both mito affected and MY TREASURES

[Guest guest]

Kim,

It sounds to me like your gut is telling you someting, and that you should listen to that mother's instinct. i hate it when doctors poo-poo us and dismiss our concerns and fears. you have reason to be concerned and proceed with finding answers to those questions in your mind. if it comes to nothing, then you will have that peace of mind and Madi will have a small scar on her thigh. if you are right, then you will have a much better idea of how to give your daughter the best possible treatment you can. listen to your docs, but above all listen to your gut.

hope this helps

ruth

mom to Mitch (nearly 9) and Lexi (6 next week) both mito affected and MY TREASURES

[Guest guest]

I know it is a tough decision to go through with surgery for your child. I also understand that every case is different, but here is our experience. (I will keep it very short, if you want the whole story just ask.) Our daughter Grace was a pretty sick baby. Most of her labs were abnormal, but not too bad (except for liver, really bad). Even before mito was suggested I remember asking her GI "do you think she will be O.K?" Her response was "I don't know." Eventually she was met up with Dr. Cohen at Cleveland Clinic and he recommended a muscle and liver biopsy. Although we were reluctant, she had already had two punch liver biopsies to show damage but nothing specific, we decided to go through it. When her biopsies came back, both were positive for mito (although no known type). She was started on the cocktail along with some other meds specific for her needs. Today she is a relatively normal toddler. She runs, tries to jump, laughs, and picks on her older siblings. She still cannot talk, but is learning to use sign. Best of all, her bloodwork is coming back completely normal. We at one time thought almost for sure that she would need a transplant at a young age, now it is pretty unlikely she will ever need one. I just recently asked Dr. Cohen the same question I asked her GI about a year ago. I got the response "I think she is going to be just fine." Of course she will always take a lot of medication, and have to be very careful of illnesses and making sure her diet is good. But she will most likely live a normal life. This is all because of fast acting and getting the diagnosis before it was too late. I truly believe that if we waited longer, I may not have had my Grace for much longer. I know this is tough, but use your instinct, mom knows best.