Introduction

[Guest guest]

Just thought that I would introduce myself. I'm a 28-year-old female. I have a variety of medical problems, which have never had an explanation. I was recently diagnosed with Ehlers-Danlos Syndrome for hypermobility. (There is no diagnostic test, so there's no clear diagnosis.)

Recently (on Tuesday night), a friend of mine was told that her son's diagnosis of EDS was a mis-diagnosis and the doctor is fairly certain that she and her son have some form of mitochondrial cytopathy.

That led me to do a bunch of net research over the past week. It's kind of strange how much things match with my current medical problems. I've always felt that no one could be unlucky enough to have medical problems that I do without there being some basis. (I have sleep issues, gastrointestinal disorders -- IBS and a severe hyatial hernia, major pain issues, metabolism issues, etc.)

My family also show various other phenotypes. My sister has severe adult-onset epilepsy and extreme nerve damage in her arm and other areas too. Two of her sons also have some other medical issues, which the doctors have never been able to pinpoint.

I'm going to be talking with my geneticist and genetic counselor this week about the research I've done. Thankfully, I live right near Stanford University and have access to some good doctors. Although, I haven't found anyone who is working on this at Stanford yet.

Sue Anne

sreed1234@...

[Guest guest]

Sue Anne

Welcome to the group. I think you will find it helpful and supportive.

I found it interesting that you have been diagnosed with Ehlers-Danlos. My younger son (27 tomorrow) has that diagnosis as well as mito. Several of the rest of us probably have it but with less manifestation. He can dislocate most joints and pull his skin out from his face for several inches. He is popular at parties. He is also a carrier for Thallesimia. I am 60 with mito. My mother, sister (on the list), probably our two brothers, my younger son and probably the older on and my niece have it.

laurie

Reply-To:

Date: Sat, 6 Jul 2002 13:58:03 -0700

To: < >

Subject: Introduction

Just thought that I would introduce myself. I'm a 28-year-old female. I have a variety of medical problems, which have never had an explanation. I was recently diagnosed with Ehlers-Danlos Syndrome for hypermobility. (There is no diagnostic test, so there's no clear diagnosis.)

Recently (on Tuesday night), a friend of mine was told that her son's diagnosis of EDS was a mis-diagnosis and the doctor is fairly certain that she and her son have some form of mitochondrial cytopathy.

That led me to do a bunch of net research over the past week. It's kind of strange how much things match with my current medical problems. I've always felt that no one could be unlucky enough to have medical problems that I do without there being some basis. (I have sleep issues, gastrointestinal disorders -- IBS and a severe hyatial hernia, major pain issues, metabolism issues, etc.)

My family also show various other phenotypes. My sister has severe adult-onset epilepsy and extreme nerve damage in her arm and other areas too. Two of her sons also have some other medical issues, which the doctors have never been able to pinpoint.

I'm going to be talking with my geneticist and genetic counselor this week about the research I've done. Thankfully, I live right near Stanford University and have access to some good doctors. Although, I haven't found anyone who is working on this at Stanford yet.

Sue Anne

sreed1234@...

[Guest guest]

Hi Sue,

Welcome to Mitoldies This is a great group of people, they have

taught me a lot, and have a lot of answers. Feel free to ask any

questions you may have, or share information you have learned I

hope that soon you will be able to find an answer for your medical

problems. I am 21, have a definite diagnosis of Carnitine Deficiency,

and the doctors are looking into a type of Mitochondrial Myopathy

right now. It is believed I have " infant onset " .

Welcome again!

Nikki

> Just thought that I would introduce myself. I'm a 28-year-old

female. I have a variety of medical problems, which have never had an

explanation. I was recently diagnosed with Ehlers-Danlos Syndrome for

hypermobility. (There is no diagnostic test, so there's no clear

diagnosis.)

>

> Recently (on Tuesday night), a friend of mine was told that her

son's diagnosis of EDS was a mis-diagnosis and the doctor is fairly

certain that she and her son have some form of mitochondrial

cytopathy.

>

> That led me to do a bunch of net research over the past week. It's

kind of strange how much things match with my current medical

problems. I've always felt that no one could be unlucky enough to

have medical problems that I do without there being some basis. (I

have sleep issues, gastrointestinal disorders -- IBS and a severe

hyatial hernia, major pain issues, metabolism issues, etc.)

>

> My family also show various other phenotypes. My sister has severe

adult-onset epilepsy and extreme nerve damage in her arm and other

areas too. Two of her sons also have some other medical issues, which

the doctors have never been able to pinpoint.

>

> I'm going to be talking with my geneticist and genetic counselor

this week about the research I've done. Thankfully, I live right near

Stanford University and have access to some good doctors. Although, I

haven't found anyone who is working on this at Stanford yet.

>

> Sue Anne

> sreed1234@y...

[Guest guest]

Sue,

Best of luck in your quest to find a diagnisis. It can be very long

and trying as you will learn by reading others stories.

It's nice to meet you!

Di Pietro

(21yo MM, suspected MELAS)

> Just thought that I would introduce myself. I'm a 28-year-old

female. I have a variety of medical problems, which have never had an

explanation. I was recently diagnosed with Ehlers-Danlos Syndrome for

hypermobility. (There is no diagnostic test, so there's no clear

diagnosis.)

>

> Recently (on Tuesday night), a friend of mine was told that her

son's diagnosis of EDS was a mis-diagnosis and the doctor is fairly

certain that she and her son have some form of mitochondrial

cytopathy.

>

> That led me to do a bunch of net research over the past week. It's

kind of strange how much things match with my current medical

problems. I've always felt that no one could be unlucky enough to

have medical problems that I do without there being some basis. (I

have sleep issues, gastrointestinal disorders -- IBS and a severe

hyatial hernia, major pain issues, metabolism issues, etc.)

>

> My family also show various other phenotypes. My sister has severe

adult-onset epilepsy and extreme nerve damage in her arm and other

areas too. Two of her sons also have some other medical issues, which

the doctors have never been able to pinpoint.

>

> I'm going to be talking with my geneticist and genetic counselor

this week about the research I've done. Thankfully, I live right near

Stanford University and have access to some good doctors. Although, I

haven't found anyone who is working on this at Stanford yet.

>

> Sue Anne

> sreed1234@y...

[Guest guest]

Sue Anne,

Welcome to Mitoldies! I am Laurie's younger sister . I have a complex I

& II functional defect in the OXPHOS chain. My 12 year old daughter is also

affected. She is thought to maybe have a

mild form of EDS too.

> Sue Anne wrote:

>

> Just thought that I would introduce myself. I'm a 28-year-old female. I have a

variety of medical problems, which have never had an explanation. I was recently

diagnosed with Ehlers-Danlos Syndrome

> for hypermobility. (There is no diagnostic test, so there's no clear

diagnosis.)

>

> Recently (on Tuesday night), a friend of mine was told that her son's

diagnosis of EDS was a mis-diagnosis and the doctor is fairly certain that she

and her son have some form of mitochondrial

> cytopathy.

>

> That led me to do a bunch of net research over the past week. It's kind of

strange how much things match with my current medical problems. I've always felt

that no one could be unlucky enough to

> have medical problems that I do without there being some basis. (I have sleep

issues, gastrointestinal disorders -- IBS and a severe hyatial hernia, major

pain issues, metabolism issues, etc.)

>

> My family also show various other phenotypes. My sister has severe adult-onset

epilepsy and extreme nerve damage in her arm and other areas too. Two of her

sons also have some other medical issues,

> which the doctors have never been able to pinpoint.

>

> I'm going to be talking with my geneticist and genetic counselor this week

about the research I've done. Thankfully, I live right near Stanford University

and have access to some good doctors.

> Although, I haven't found anyone who is working on this at Stanford yet.

>

> Sue Anne

> sreed1234@...

>

>

[Guest guest]

Sue Ann,

Welcome to Mitoldies. This is a great group. Full of a lot of caring people with a wealth of knowledge. It is a great support system.! I am a 25 year old with a diagnosis of Mitochondrial Cythopathy- COX Deficiency. I'm sorry you have to be here, but this is group is full of support. I think you are headed in the right direction of thinking mitochondrial disease.

Smiles,

a

> Just thought that I would introduce myself. I'm a 28-year-old female. I have a variety of medical problems, which have never had an explanation. I was recently diagnosed with Ehlers-Danlos Syndrome for hypermobility. (There is no diagnostic test, so there's no clear diagnosis.) > > Recently (on Tuesday night), a friend of mine was told that her son's diagnosis of EDS was a mis-diagnosis and the doctor is fairly certain that she and her son have some form of mitochondrial cytopathy. > > That led me to do a bunch of net research over the past week. It's kind of strange how much things match with my current medical problems. I've always felt that no one could be unlucky enough to have medical problems that I do without there being some basis. (I have sleep issues, gastrointestinal disorders -- IBS and a severe hyatial hernia, major pain issues, metabolism issues, etc.) > > My family also show various other phenotypes. My sister has severe adult-onset epilepsy and extreme nerve damage in her arm and other areas too. Two of her sons also have some other medical issues, which the doctors have never been able to pinpoint. > > I'm going to be talking with my geneticist and genetic counselor this week about the research I've done. Thankfully, I live right near Stanford University and have access to some good doctors. Although, I haven't found anyone who is working on this at Stanford yet. > > Sue Anne > sreed1234@y...

[Guest guest]

Oops your right about the Marfans......crap....My kids have been examined for just about every disease there is so I get them mixed up sometimes...

I know there is a test for ED...a punch biopsy though because Neal had it done and all they put on his skin was Emla cream. You should have heard him scream!!!

Carol

IntroductionJust thought that I would introduce myself. I'm a 28-year-old female. I have a variety of medical problems, which have never had an explanation. I was recently diagnosed with Ehlers-Danlos Syndrome for hypermobility. (There is no diagnostic test, so there's no clear diagnosis.) Recently (on Tuesday night), a friend of mine was told that her son's diagnosis of EDS was a mis-diagnosis and the doctor is fairly certain that she and her son have some form of mitochondrial cytopathy. That led me to do a bunch of net research over the past week. It's kind of strange how much things match with my current medical problems. I've always felt that no one could be unlucky enough to have medical problems that I do without there being some basis. (I have sleep issues, gastrointestinal disorders -- IBS and a severe hyatial hernia, major pain issues, metabolism issues, etc.) My family also show various other phenotypes. My sister has severe adult-onset epilepsy and extreme nerve damage in her arm and other areas too. Two of her sons also have some other medical issues, which the doctors have never been able to pinpoint. I'm going to be talking with my geneticist and genetic counselor this week about the research I've done. Thankfully, I live right near Stanford University and have access to some good doctors. Although, I haven't found anyone who is working on this at Stanford yet. Sue Anne sreed1234@... Medical advice, information, opinions, data and statements contained herein are not necessarily those of the list moderators. The author of this e mail is entirely responsible for its content. List members are reminded of their responsibility to evaluate the content of the postings and consult with their physicians regarding changes in their own treatment.

[Guest guest]

Welcome to the list

I am having email problems with my computer so am catching emails every once in a while.

Of particular interest to me was the fact that you said your sister has adult onset epilepsy. My mother died when she was 48 back in 1988. She was diagnosed back when she was 35 for epilepsy and was taking medication. I cannot remember what it was. Anyway, she had a major seizure and went into a coma before she died. Before that she would just black out and fall and then wake up a few minutes later. She was 5 ft, 105 lbs.

I have had the blackouts 4 times in my life that I can remember. A special CAT scan showed evidence of seizures. I am heavier-130 lbs. I have diabetes and could not for a while feel the top half of my foot.

My sister had a siezure--the kind you normally think of with the body shaking in 1994 when she was 31. She went into a coma for 4 days. The doctors could not find anything wrong. The same thing happened in 1996 but she had moved to a different city and her doctor was very persistant to look for a reason. She was put on anti epilepsy medication but had 10 hrs of seizures they could not control and she went into a two week coma. She eventually recovered but died a couple of months later.

She was diagnosed with MELAS--Mitrochondrial, Encelphalytis, Lactic Acid, Stroke Like Events

She was diagnosed first with a blood test in late April but the results were not back in June when she went into the coma so they did a muscle biopsy and got the results. She was given an experimental drug DCA to lower lactic acid. She was also started on the vitamin cocktail.

I am wondering if your sisters epilepsy is really epilepsy or some form of melas. It doesn't really matter I guess. I am not sure but there is a list on the site of medications that people with mito should avoid.

Anyway, welcome to the group.

Janet Sample

Introduction

Just thought that I would introduce myself. I'm a 28-year-old female. I have a variety of medical problems, which have never had an explanation. I was recently diagnosed with Ehlers-Danlos Syndrome for hypermobility. (There is no diagnostic test, so there's no clear diagnosis.)

Recently (on Tuesday night), a friend of mine was told that her son's diagnosis of EDS was a mis-diagnosis and the doctor is fairly certain that she and her son have some form of mitochondrial cytopathy.

That led me to do a bunch of net research over the past week. It's kind of strange how much things match with my current medical problems. I've always felt that no one could be unlucky enough to have medical problems that I do without there being some basis. (I have sleep issues, gastrointestinal disorders -- IBS and a severe hyatial hernia, major pain issues, metabolism issues, etc.)

My family also show various other phenotypes. My sister has severe adult-onset epilepsy and extreme nerve damage in her arm and other areas too. Two of her sons also have some other medical issues, which the doctors have never been able to pinpoint.

I'm going to be talking with my geneticist and genetic counselor this week about the research I've done. Thankfully, I live right near Stanford University and have access to some good doctors. Although, I haven't found anyone who is working on this at Stanford yet.

Sue Anne

sreed1234@... Medical advice, information, opinions, data and statements contained herein are not necessarily those of the list moderators. The author of this e mail is entirely responsible for its content. List members are reminded of their responsibility to evaluate the content of the postings and consult with their physicians regarding changes in their own treatment.

[Guest guest]

Carol

My son's doctor talked about the biopsy, but the symptoms are so classic that he didn't feel it was necessary. The funny thing is that I knew about the loose joints, but didn't know about the loose skin until about a year ago. I guess this mom didn't routinely pull on her little one's skin.

laurie

Reply-To:

Date: Sun, 7 Jul 2002 17:40:18 -0400

To: < >

Subject: Re: Introduction

Oops your right about the Marfans......crap....My kids have been examined for just about every disease there is so I get them mixed up sometimes...

I know there is a test for ED...a punch biopsy though because Neal had it done and all they put on his skin was Emla cream. You should have heard him scream!!!

Carol

Introduction

Just thought that I would introduce myself. I'm a 28-year-old female. I have a variety of medical problems, which have never had an explanation. I was recently diagnosed with Ehlers-Danlos Syndrome for hypermobility. (There is no diagnostic test, so there's no clear diagnosis.)

Recently (on Tuesday night), a friend of mine was told that her son's diagnosis of EDS was a mis-diagnosis and the doctor is fairly certain that she and her son have some form of mitochondrial cytopathy.

That led me to do a bunch of net research over the past week. It's kind of strange how much things match with my current medical problems. I've always felt that no one could be unlucky enough to have medical problems that I do without there being some basis. (I have sleep issues, gastrointestinal disorders -- IBS and a severe hyatial hernia, major pain issues, metabolism issues, etc.)

My family also show various other phenotypes. My sister has severe adult-onset epilepsy and extreme nerve damage in her arm and other areas too. Two of her sons also have some other medical issues, which the doctors have never been able to pinpoint.

I'm going to be talking with my geneticist and genetic counselor this week about the research I've done. Thankfully, I live right near Stanford University and have access to some good doctors. Although, I haven't found anyone who is working on this at Stanford yet.

Sue Anne

sreed1234@...

Medical advice, information, opinions, data and statements contained herein are not necessarily those of the list moderators. The author of this e mail is entirely responsible for its content. List members are reminded of their responsibility to evaluate the content of the postings and consult with their physicians regarding changes in their own treatment.