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MELAS SYNDROME

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I am a 29 year female with suspected MELAS syndrome. I have a history of

seizures when I was younger and now on most days I have headaches, turning into

migraines every 7 to 10 days. I am also hypoglycemic and have sinus problems.

My mom had severe migraines and my grandmother had severe epilepsy.

I am waiting for the genetic test to come back, but my lactic acid came back

twice the norm, which tells me my genetic test is going to come back positive.

I am having a hard time finding information on what to expect in the future.

Can it get better, worse or stay the same? Does it affect life expectancy?

What other areas can it affect? Basically, what do I have to look forward to?

I would appreciate any information on this...I'm very scared and I want to know

what I am dealing with.

Thanks.

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Janine Gentile wrote:

> I am a 29 year female with suspected MELAS syndrome.

Janine welcome to the list. We already have several s on this list, it

will be great to have another Janine, (I spell it Jeannine).

> I have a history of seizures when I was younger and now on most days I have

headaches, turning into migraines every 7 to 10 days. I am also hypoglycemic

and have sinus problems. My mom had severe migraines and my grandmother had

severe epilepsy.

You sound very similar to my two girls. They are 11 and 17 and both had

seizures early on and later then settled into just migraine type headaches.

Both of them had severe migraines with stroke like episodes where they appeared

to lose skills and have other associated neurologic symptoms. They are also

pretty severely hypoglycemic and tend to spill ketones easily. My youngest is

the most severely affected and at one time was thought to have Melas, but then

later was diagnosed thru muscle biopsy, with Complex IV deficiency and has also

been presumed to have a melas/merf overlap type disease. But we

have no real genetic documentation of that, it is presumed from the symptoms.

> I am having a hard time finding information on what to expect in the future.

Can it get better, worse or stay the same? Does it affect life expectancy?

What other areas can it affect? Basically, what do I have to look forward to?

Our experience has been that it is a treatable disease. I have three children

that are affected in varying degrees of severity. All have responded quite well

to co enzyme q and vitamin therapy. Yes it can get worse, but it also can get

better when treated symptomatically. My youngest child has

stabilized and improved dramatically over the past couple of years, as she has

been treated aggressively and micro managed so to speak. Mitochondrial disease

can affect virtually any organ system, depending upon how many " sick "

mitochondria there are in that system. Management relies a lot on the use

of antioxidants to slow down the progression of the disease; vit C, E, Alpha

Lipoic Acid etc... Some people respond well to the mega doses of the B

vitamins. There are some types of mito disease that are thought to be more life

threatening than others, but on the whole it is supposed to be a treatable

disease.

My youngest child has responded quite well to IVIG and the use of steroids and

her headaches and stroke like episodes are at a minimum.

> I would appreciate any information on this...I'm very scared and I want to

know what I am dealing with.

I know that you will find this list a great source of information and support.

Welcome!

Jeannine, mom to

Dalton, 20 yrs, ADD, LD, Presumed Complex IV

Genny, 17 yrs, Severe Autonomic Dysfunction, Presumed Complex IV

Caitlin, 11 yrs, Severe Autonomic Dysfunction, CIDP, Complex IV

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janine.gentile@... wrote:

> I appreciate the information you gave me. It's good to see there is hope.

There is always hope!!!

> Everything I've seen on the web has shown varying degrees of severity.

This is very true, even my three children vary quite a bit in severity. Two

people can have the exact

same diagnosis, and still have very different manifestation of the disease.

Even two people in the same

family may be very different.

> However, I did read that retinal pigmentary degeneration is

> also a symptom, which I was diagnosed with back in March by my eye

> doctor...I certainly didn't link the two.

This is definitely linked to mitochondrial disease. Who is following you? You

definitely need to follow

up on this.

> I currently manage my hypoglycemia with a lot of the vitamins that seem to

> work with the MELAS.

We also use corn starch at night to help with the hypoglycemia. It helps

because it is a slowly

metabolized sugar and helps to get through the night, so that you aren't

depleting all your glycogen

stores every night. We also use frequent snacks and a diet high in complex

carbs. It makes all the

difference in energy too.

> I guess I'll just have to start up on the enzymes

> and antioxidants.

Have you read about the mito cocktail? Also you need to join the UMDF, the

United Mitochondrial Disease

Foundation. You can check out their web site at www.umdf.org for more

information. They have a patient

coordinator that can help you as well. There is also a newsletter that is full

of great information.

There was an article last year by Dr. Bruce Cohen that included the vitamins and

supplements that he

recommends in the mito cocktail. There is also another web site www.imdn.org

They have a web board and

chat room to meet other people. There is also a regularly scheduled chat at the

MGH mito chat room every

Sunday and Wednesday evening at 6 pm pacific time.

Good luck,

Jeannine

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Hi Janine,

I don't blame you for being scared about all of this. It is frightening as

there are a lot of unknowns. But I agree with Jeannine, there is always hope

and this disease is definitely treatable.

I have a 22 year old daughter with seizures, myoclonus, ataxia and nystagmus.

She has been diagnosed with MELAS. We have been told that she will have

episodes of illness and may very well fully recover from those. We have

found this to be the true. She is managed on the vitamin cocktail and

seizure medications and for the most part is doing great. She's a senior at

Temple University this year and she is determined not to let this disease get

in the way of her getting on with her life.

You've come to a good place to learn what different people are doing to

manage their mitochondrial disease, who the specialists in the field are,

what studies are happening, what medications you should avoid, etc.

Take good care of yourself and learn as much as you can to optimize your

health. You CAN manage this disease and have a full, and meaningful life.

Barbara

mom to Alison/22/melas

liver transplant due to depakote toxicity

In a message dated 8/28/99 1:16 Eastern Daylight Time,

Janine.Gentile@... writes:

> I am having a hard time finding information on what to expect in the

future.

> Can it get better, worse or stay the same? Does it affect life expectancy?

> What other areas can it affect? Basically, what do I have to look forward

to?

>

>

> I would appreciate any information on this...I'm very scared and I want to

> know what I am dealing with.

>

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Share on other sites

Hi Janine,

I don't blame you for being scared about all of this. It is frightening as

there are a lot of unknowns. But I agree with Jeannine, there is always hope

and this disease is definitely treatable.

I have a 22 year old daughter with seizures, myoclonus, ataxia and nystagmus.

She has been diagnosed with MELAS. We have been told that she will have

episodes of illness and may very well fully recover from those. We have

found this to be the true. She is managed on the vitamin cocktail and

seizure medications and for the most part is doing great. She's a senior at

Temple University this year and she is determined not to let this disease get

in the way of her getting on with her life.

You've come to a good place to learn what different people are doing to

manage their mitochondrial disease, who the specialists in the field are,

what studies are happening, what medications you should avoid, etc.

Take good care of yourself and learn as much as you can to optimize your

health. You CAN manage this disease and have a full, and meaningful life.

Barbara

mom to Alison/22/melas

liver transplant due to depakote toxicity

In a message dated 8/28/99 1:16 Eastern Daylight Time,

Janine.Gentile@... writes:

> I am having a hard time finding information on what to expect in the

future.

> Can it get better, worse or stay the same? Does it affect life expectancy?

> What other areas can it affect? Basically, what do I have to look forward

to?

>

>

> I would appreciate any information on this...I'm very scared and I want to

> know what I am dealing with.

>

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Share on other sites

Hi Janine,

I don't blame you for being scared about all of this. It is frightening as

there are a lot of unknowns. But I agree with Jeannine, there is always hope

and this disease is definitely treatable.

I have a 22 year old daughter with seizures, myoclonus, ataxia and nystagmus.

She has been diagnosed with MELAS. We have been told that she will have

episodes of illness and may very well fully recover from those. We have

found this to be the true. She is managed on the vitamin cocktail and

seizure medications and for the most part is doing great. She's a senior at

Temple University this year and she is determined not to let this disease get

in the way of her getting on with her life.

You've come to a good place to learn what different people are doing to

manage their mitochondrial disease, who the specialists in the field are,

what studies are happening, what medications you should avoid, etc.

Take good care of yourself and learn as much as you can to optimize your

health. You CAN manage this disease and have a full, and meaningful life.

Barbara

mom to Alison/22/melas

liver transplant due to depakote toxicity

In a message dated 8/28/99 1:16 Eastern Daylight Time,

Janine.Gentile@... writes:

> I am having a hard time finding information on what to expect in the

future.

> Can it get better, worse or stay the same? Does it affect life expectancy?

> What other areas can it affect? Basically, what do I have to look forward

to?

>

>

> I would appreciate any information on this...I'm very scared and I want to

> know what I am dealing with.

>

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Hi Janine,

My daughter, Pippa, who is 21 years old,was diagnosed with MELAS about 18

months ago.

She has been in and out of hospital many times, but with careful management

we are starting to get her life back in order.

Pippa suffers from 'tonic clonic' epilepsy (only started when she was 19

years old), muscle weakness, migraine and spells of disorientation and

confusion.

We have found that along with her prescribed medication we have had some

success with doses of Q10 coenzymes, a low steroid intake and various other

vitamins.

Unfortunately, Pippa has not ben able to continue with her University

studies, but we are gradually introducing more stimulating activities back

into her life.

Pippa is very reliant on plenty of sleep and a healthy diet to keep the

nasties away.

All is not gloom and doom and, as you have heard, all cases of MELAS present

somewhat differently.

Good luck, and keep in touch - I'm sure that there will be mutual benefit if

we keep talking to each other.

Don Beard (from Perth, Western Australia), father to Pippa.

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Hi Janine,

My daughter, Pippa, who is 21 years old,was diagnosed with MELAS about 18

months ago.

She has been in and out of hospital many times, but with careful management

we are starting to get her life back in order.

Pippa suffers from 'tonic clonic' epilepsy (only started when she was 19

years old), muscle weakness, migraine and spells of disorientation and

confusion.

We have found that along with her prescribed medication we have had some

success with doses of Q10 coenzymes, a low steroid intake and various other

vitamins.

Unfortunately, Pippa has not ben able to continue with her University

studies, but we are gradually introducing more stimulating activities back

into her life.

Pippa is very reliant on plenty of sleep and a healthy diet to keep the

nasties away.

All is not gloom and doom and, as you have heard, all cases of MELAS present

somewhat differently.

Good luck, and keep in touch - I'm sure that there will be mutual benefit if

we keep talking to each other.

Don Beard (from Perth, Western Australia), father to Pippa.

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