RE: Re: puberty = symptoms---MITO TESTING

[Guest guest]

Hello Kim,

The doc who diagnosed my sister back in 1996 also suggested not to get the kids

tested unless they showed symptoms also. My nephew was 5 at the time and my son

was 3. I was diagnosed in 1997.

The reason is that they may be denied life insurance in the future even though

there are people who are in their 80's & 90's who have it (my grandmother for

one who died at age 91).

We had my son tested back in 2002 just before his 10th birthday to have

supporting paperwork for his school for those times especially in December and

January where he got so sick that he just slept for 3-4 days and would only wake

up for about 2.

If I would have thought of it sooner--I would just have started him on the qgel

and carnitine by myself. While you need a prescription for the carnitor, I

probably could have gotten that from the doctor with no problem.

You do not need a prescription for Qgel, other CoQ10, or OTC carnitine, or the

vitamin C, Riboflvin that the doc prescribed for me and for my son.

My brother-in-law put it " its not like you are giving them mega doses of illegal

drugs, these are vitamins " .

So, if you have a doctor who will help with prescribing what vitamins to take

and if they are helping there probably is no need for testing.

Janet Sample

Re: puberty = symptoms

My second daughter, who was developmentally delayed with autistic

tendancies as a child, is showing more problems. She's on grade

level now, so most people don't even know she had a rough start as a

child. She did have to have one of her heal tendons stretched by

putting her leg/foot in a series of casts last fall, and has

atypical asthma.

Now that she's reached puberty, she's having more problems. She

left competitive gymnastics two years ago. She's been dancing

almost daily since then, so has continued to be active. A couple

weeks ago, she decided to join a competitive cheerleading team.

She's doing ok except for the tumbling runs. They do a tumbling run

every couple minutes for about an hour. She's near collapse by the

end of it. She can't handle heat either. I'm going to have to talk

to her coach about it.

I'm afraid she'll be the next one to be tested. Our pcp feels the

kids shouldn't be tested unless they're symptomatic. What do others

feel about that approach? She's the 2nd of 4 kids.

Kim

> Caitlyn,

> Welcome to the group. I am a and am 28. I started

having

> symptoms when I was in my early teens and was diagnosed at age

18. You

> are right about the heat taking a toll on the body. I know you

want to

> enjoy being outside, just remember to pace yourself. You have

found a

> great group of people here.

> Smiles,

> a

>

> On Wed, 29 Jun 2005 14:34:43 -0000 " dolphins8124 "

> writes:

> I am a new member. Just joined this group a couple of days ago and

> thought I should introduce myself. My name is Caitlin. I am 22

years

> old and from central PA. I have not officially been diagnosed with

a

> mito disorder but one is suspected.

> I have had cyclic vomiting syndrome since I was 4 and was

diagnosed

> with that when I was 8. There is a Dr in California, Dr. Boles who

> believes that cyclic vomiting syndrome (CVS) is mitochondrial

related.

> He has a study going on and I met the criteria for the first phase

of

> the study. There are three phases of the study and they are either

on

> the second or third, I can't remember. I had my COQ10 level

checked and

> it was below normal thus leading us to suspect even more that I

have a

> mito disorder.

> I have always needed a lot of sleep. Even as a baby I slept a lot.

I am

> tired pretty much all of the time. Heat makes me even more tired.

I try

> to stay cool in the summer because I know if I do have mito that

> extreme temperatures are pretty bad but it is hard because I love

going

> out in the summer. I've written a lot so I will go for now.

> Caitlin

>

>

[Guest guest]

Just a note on our experience with early diagnosis as relates to life

insurance. My son was diagnosed at age 9 after having symptoms from an early

age. He was denied life insurance as a teenager when his grandmother wanted

to take out a policy for all her grandchildren. However, once he was an

adult and employed full-time, he was able to get some additional life

insurance through work with no medical questions. That may not be true for

everyone, but was for him. He also had some life insurance we had taken out

when he was born, before there was any question of health. As an adult,

Instead of focusing on life insurance, he has chosen to handle future

financial planning other ways. There are alternatives.

In his case, the benefits of early diagnosis far outweighed any disadvantage

on life insurance. Because we had a firm diagnosis, his doctors took him out

of PE---which was causing constant serious illness and progression. He also

had treatment with cofactors available including rx Carnitor, and that also

made a huge difference for him, not only in getting through Jr high, high

school and college, but also made it possible for him to work full-time as

an adult and lead a normal life (with restrictions). These things are far

more important to him than life insurance.

It is definitely more controversial to test a child with no symptoms. Most

doctors in my experience do not recommend this, and may even balk at testing

a child who is mildly symptomatic. It varies. Sometimes a geneticist will

offer screening to all family members once a genetic mutation has been

identified in the family. But this again is controversial. Genetic

counseling can be helpful in these cases to help all family members

understand the pros and cons.

I have friends with Huntington's in the family. The mother recently died of

this disorder after a long, long struggle, just as her mother did before

her. Her college-age daughter has chosen all along not to be tested. She

doesn't want to know if she will develop the disease later in life. For

older children, you definitely have to respect their wishes. Some people

want to know, others don't. It's a very personal decision.

Barbara

_____

From: [mailto: ] On Behalf

Of Janet Sample

Sent: Saturday, July 02, 2005 7:49 AM

To:

Subject: Re: Re: puberty = symptoms---MITO TESTING

Hello Kim,

The doc who diagnosed my sister back in 1996 also suggested not to get the

kids tested unless they showed symptoms also. My nephew was 5 at the time

and my son was 3. I was diagnosed in 1997.

The reason is that they may be denied life insurance in the future even

though there are people who are in their 80's & 90's who have it (my

grandmother for one who died at age 91).

We had my son tested back in 2002 just before his 10th birthday to have

supporting paperwork for his school for those times especially in December

and January where he got so sick that he just slept for 3-4 days and would

only wake up for about 2.

If I would have thought of it sooner--I would just have started him on the

qgel and carnitine by myself. While you need a prescription for the

carnitor, I probably could have gotten that from the doctor with no problem.

You do not need a prescription for Qgel, other CoQ10, or OTC carnitine, or

the vitamin C, Riboflvin that the doc prescribed for me and for my son.

My brother-in-law put it " its not like you are giving them mega doses of

illegal drugs, these are vitamins " .

So, if you have a doctor who will help with prescribing what vitamins to

take and if they are helping there probably is no need for testing.

Janet Sample

Re: puberty = symptoms

My second daughter, who was developmentally delayed with autistic

tendancies as a child, is showing more problems. She's on grade

level now, so most people don't even know she had a rough start as a

child. She did have to have one of her heal tendons stretched by

putting her leg/foot in a series of casts last fall, and has

atypical asthma.

Now that she's reached puberty, she's having more problems. She

left competitive gymnastics two years ago. She's been dancing

almost daily since then, so has continued to be active. A couple

weeks ago, she decided to join a competitive cheerleading team.

She's doing ok except for the tumbling runs. They do a tumbling run

every couple minutes for about an hour. She's near collapse by the

end of it. She can't handle heat either. I'm going to have to talk

to her coach about it.

I'm afraid she'll be the next one to be tested. Our pcp feels the

kids shouldn't be tested unless they're symptomatic. What do others

feel about that approach? She's the 2nd of 4 kids.

Kim

> Caitlyn,

> Welcome to the group. I am a and am 28. I started

having

> symptoms when I was in my early teens and was diagnosed at age

18. You

> are right about the heat taking a toll on the body. I know you

want to

> enjoy being outside, just remember to pace yourself. You have

found a

> great group of people here.

> Smiles,

> a

>

> On Wed, 29 Jun 2005 14:34:43 -0000 " dolphins8124 "

> writes:

> I am a new member. Just joined this group a couple of days ago and

> thought I should introduce myself. My name is Caitlin. I am 22

years

> old and from central PA. I have not officially been diagnosed with

a

> mito disorder but one is suspected.

> I have had cyclic vomiting syndrome since I was 4 and was

diagnosed

> with that when I was 8. There is a Dr in California, Dr. Boles who

> believes that cyclic vomiting syndrome (CVS) is mitochondrial

related.

> He has a study going on and I met the criteria for the first phase

of

> the study. There are three phases of the study and they are either

on

> the second or third, I can't remember. I had my COQ10 level

checked and

> it was below normal thus leading us to suspect even more that I

have a

> mito disorder.

> I have always needed a lot of sleep. Even as a baby I slept a lot.

I am

> tired pretty much all of the time. Heat makes me even more tired.

I try

> to stay cool in the summer because I know if I do have mito that

> extreme temperatures are pretty bad but it is hard because I love

going

> out in the summer. I've written a lot so I will go for now.

> Caitlin

>

>