RE: Mito inheritance questions for folks with adult onset of the disease

[Guest guest]

My kids have a diagnosis of metabolic disorder, NOS. I

have no diagnosis. Our primary physician is med/peds

and is writing scripts for me and my son (17) for

Carnitor and is supporting the cocktail. It's helping.

I started having symptoms in my early 20s (with what I

called the sugar shakes). My older child started with

migraine at ten. My younger child was a 22 week

preemie but never outgrew many of the things she

should have. She started with migraine at four.

My mom has a sister who has had symptoms of dementia

for several years. I'm going to be 42 this year and

she'll be 51. Her symptoms started at about 46. They

had an infant sister die at about two days of age. She

is said to have never eaten. Depression runs in the

family. My mom is fairly healthy at 68 but has

recently had some heart issues. Her mother is still

alive. Her mother's mother died in her mid 20s (?TB)

and had two sons who died as toddlers (???). Twin of

sister with dementia has had some odd cardiac problems

for about ten years. Almost all females were very

skinny (clothes falling off skinny) until about 40. I

started gaining in late 20s to early 30s. No symptoms

in family really jump out at you but I gotta wonder.

My dad and his father both had orthostatic hypotension

as do I and my son. My daughter has temp control

issues and splotchy skin so I'm betting she'll have it

too--along with other autonomic issues.

Mom to the two best kids in the world!

http://www.caringbridge.org/visit/thomasandkatie

__________________________________________________

[Guest guest]

Kathleen my kids had dizzy spells and painful legs when they were growing up.

Now in early twenties they are showing signs but not yet diagnosed. As to

myself, some weird things happened throughout my life eg vagueness, deafness

from age 11 in one ear, palpitations and ptosis started early twenties, muscle

fatigue, major trouble breastfeeding, miscarriages, and losing babies in utero,

a seizure and coma in early thirties, uterine prolapse and early menopause at

35, and since then further hearing loss, temporomandibular dysfunction,

depression & anxiety, and five years ago at 50 a major heart attack from a

combination of high cholesterol, pushing my body to perform at work, and

anxiety, and since then lots of muscle spasm, tiredness diabetes. Now I come to

think of it I sound like a real basket case - but I am still around and look

normal, can walk ok and was only recently diagnosed (accidentally) and realised

there was probably a reason for all the funny things that have happened. I don't

know how old you are but the very fact that there is an adult mito list is

encouraging. Lots of the people here have worse things that have happened to

them and have learnt how to manage symptoms. While I am afraid for my children,

at least they have gotten through their babyhood (now in early twenties are

adults too) and have future advances in medical science on their side. I am now

also thinking about my daughter, of child-bearing age, whether/when/how to

advise her about not having her own, should she be diagnosed. (Wonder what

others think about that...) pamela

From: kafeeninacup

To:

Sent: Tuesday, February 07, 2006 2:59 PM

Subject: Mito inheritance questions for folks with adult onset of

the disease

Dear Folks-

How many of the folks here with adult onset mito have children with mito

symptoms too?

How old were your kids when their symptoms started?

Is there anyone else here with no other family involvement?

I'm the only person in my family with any the major symptoms, though my mom

has a

hypothyroid condition and her brother died of ALS at 50. Our family was in a

study at UCLA

which determined that his ALS was not the type that has a familial pattern.

Thanks,

Kathleen

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.

Personal attacks are not permitted on the list and anyone who sends one is

automatically moderated or removed depending on the severity of the attack.

[Guest guest]

Our situation is a bit different in that my daughters are adopted siblings (same

birth mother)....but, their birthmother became truly symptomatic as a young

adult. She had soft signs as a child and teen but true clinical signs as an

adult (Note: she is NOT formally diagnosed but the medical history " fits " the

picture). Our older daughter had soft signs through early childhood and became

definitely symptomatic with the onset of puberty. Our youngest daughter became

symptomatic (SIDS type event) at 9 weeks. They are now 20 and 16. Both girls

say they will adopt children because they do not want to risk passing the

disease on to another generation, especially since they fully understand what it

has been like living with their symptoms, medical equipment, etc.

kafeeninacup kdrobins@...> wrote: Dear Folks-

How many of the folks here with adult onset mito have children with mito

symptoms too?

How old were your kids when their symptoms started?

Is there anyone else here with no other family involvement?

I'm the only person in my family with any the major symptoms, though my mom has

a

hypothyroid condition and her brother died of ALS at 50. Our family was in a

study at UCLA

which determined that his ALS was not the type that has a familial pattern.

Thanks,

Kathleen

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.

Personal attacks are not permitted on the list and anyone who sends one is

automatically moderated or removed depending on the severity of the attack.

[Guest guest]

Kathleen

We have three generations of diagnosed mito. My mother was diagnosed

by symptoms and family history, but not until age 70 with a fairly

sudden onset (lots of symptoms developed within several months). My

sister and I have been diagnosed by muscle biopsy and our two brothers

have some symptoms, but are not diagnosed. One of my sons what

affected as a child, but doing better now (he knows he might get worse

over time) and the other has some suttle signs. They are both in their

30s. My sister's daughter had a negative biopsy, but she is

symptomatic and has been diagnosed by symptoms and family history. Our

transmission seems to be that of the mitochondrial DNA, but a genetic

work-up on me did not find the specific defect. My son't know of the

possiblity that they might be able to pass it on, but the likelihood

is that they can't. I feel the decision is now in their hands. The

symptoms vary from one person to another which is common.

laurie

> How many of the folks here with adult onset mito have children with mito

> symptoms too?

>

> How old were your kids when their symptoms started?

>

> Is there anyone else here with no other family involvement?

>

> I¹m the only person in my family with any the major symptoms, though my mom

> has a hypothyroid condition and her brother died of ALS at 50. Our family

> was in a study at UCLA which determined that his ALS was not the type that

> has a familial pattern.

>

> Thanks,

> Kathleen

>

>

>

[Guest guest]

Kathleen,

This will be long. :-)

Myself and my eight kids ages 27, 25, 21, 19, 16, 11, 9 and 6 are all in the

" highly suspected Mito " category.

There are similarities and differences but the quality of all our lives has

been greatly impacted. Here is a sample of us.

One daughter, now 25, had constipation and reflux issues as an infant/child.

She was diagnosed ADHD-Mood Disorder-Mild LD as a child. She went on to have

a severe bout with Mono at about age 16 and her symptoms have increased and

health has continued to decline. She had bouts of what looked like ataxia

and spent a week in the hospital unable to walk when she was in her late

teens (docs didn't know why but suggested stress/psychosomatic). She dealt

with pain and fatigue initially diagnosed with fibromyalgia/chronic

fatigue/lyme/arthritis/MS/psychosomatic.

At age 21 (several days after this birthday) and just about a week after

seeing Cohen she suffered severe metabolic strokes that left her with

paralysis and in a power chair. She developed seizures at this time as

well. She had several more strokes and has complete paralysis from navel

down, has lost bladder and bowel function, has respiratory compromise,

hypermobility, arm weakness, deals with debilitating fatigue and migraines

and neuropathy. Seizures are under control from multiple meds. She also has

opthalmoplegia and delayed gastric empty. She is amazing and awesome and has

continued to fight and live as normal a quality of life as she possibly can.

My 9 year old son was born with moderate hypotonia, reflux/vomiting and

constipation. He had pertussis and rsv his first year of life.

He has gone on to be diagnosed with delayed gastric empty, continued

moderate hypotonia and has had episodes of what are thought to be SLE. He

deals with muscle weakness/fatigue and mental fatigue. He has asthma like

symptoms and is on daily ensure plus as he doesn't eat enough on his own to

be nutritionally sound. He has sleep apnea and is on bi-pap nights and

afternoons. He has an enlarged left ventricle of his heart. He attends half

days of school and uses an Alpha Smart as he is unable to write much due to

fatigue. He uses a convaid for distance. He always has a smile on his face

and his smile is contagious.

went through a frozen muscle biopsy and metabolic labs at age 5. His

biopsy showed increased subsarcolemnal mitochondria suggestive of a

mitochondrial myopathy. Testing on complexes fell within normal range.

Organic acids showed a-ketogluterate (Citric Acid Cycle Cell Intermediates).

His lactate/pyruvate ratio was highly elevated. His alanine/lysine ratio

was also elevated and is amino acids suggested possible Fanconi Syndrome

which was ruled out.

My 19 year old son had issues with constipation and reflux at birth. He was

diagnosed PDD at age 3. It was never typical. He dealt with chronic ear

infections as a child. He was also diagnosed with hypotonia and delays in

fine and gross motor skills. He continues to be behind but the cocktail has

helped him tremendously.

My 11 year old had issues with constipation and reflux at birth. He went on

to be diagnosed failure to thrive. Endocrinologist had done every test he

could think of and couldn't figure out what was going on with him. Since

being put on the cocktail years back he is now in normal percentiles and

normal growth pattern. Yes!!! :-)

In retrospect there were signs in me from birth that slowly progressed and

increased as years passed. I'm now 48 and symptoms are increasing more

rapidly.

In extended family there are " signs " but nobody else who pursued a diagnosis

(and nobody else who wants to) Muscle from was sent for mtDNA

testing and a point mutation was not found. We were told there were various

polymorphisms not generally found in the population.

All docs involved have told us they have no doubt given the large spectrum

of symptoms that we are dealing with Mito. They all feel that further biopsy

is not necessary. Cohen saw four of my kids and me and told me that he has

no doubt and if this is not Mito he doesn't know what it is.

We have docs on board to treat us all. We are all on a cocktail. Other than

repeat metabolic labs and continuous follow-up with way too many doctors, we

have not pursued any further testing.we just keep dealing and living with

" highly suspected Mito " .

Thanks for reading.

Hugs,

Marie

_____

From: [mailto: ] On Behalf

Of pamelama33

Sent: Tuesday, February 07, 2006 4:45 AM

To:

Subject: Re: Mito inheritance questions for folks with adult onset

of the disease

Kathleen my kids had dizzy spells and painful legs when they were growing

up. Now in early twenties they are showing signs but not yet diagnosed.

As to myself, some weird things happened throughout my life eg vagueness,

deafness from age 11 in one ear, palpitations and ptosis started early

twenties, muscle fatigue, major trouble breastfeeding, miscarriages, and

losing babies in utero, a seizure and coma in early thirties, uterine

prolapse and early menopause at 35, and since then further hearing loss,

temporomandibular dysfunction, depression & anxiety, and five years ago at

50 a major heart attack from a combination of high cholesterol, pushing my

body to perform at work, and anxiety, and since then lots of muscle spasm,

tiredness diabetes. Now I come to think of it I sound like a real basket

case - but I am still around and look normal, can walk ok and was only

recently diagnosed (accidentally) and realised there was probably a reason

for all the funny things that have happened. I don't know how old you are

but the very fact that there is an adult mito list is encouraging. Lots of

the people here have worse things that have happened to them and have learnt

how to manage symptoms. While I am afraid for my children, at least they

have gotten through their babyhood (now in early twenties are adults too)

and have future advances in medical science on their side. I am now also

thinking about my daughter, of child-bearing age, whether/when/how to advise

her about not having her own, should she be diagnosed. (Wonder what others

think about that...) pamela

From: kafeeninacup

To:

Sent: Tuesday, February 07, 2006 2:59 PM

Subject: Mito inheritance questions for folks with adult onset

of the disease

Dear Folks-

How many of the folks here with adult onset mito have children with mito

symptoms too?

How old were your kids when their symptoms started?

Is there anyone else here with no other family involvement?

I'm the only person in my family with any the major symptoms, though my

mom has a

hypothyroid condition and her brother died of ALS at 50. Our family was in

a study at UCLA

which determined that his ALS was not the type that has a familial

pattern.

Thanks,

Kathleen

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.

Personal attacks are not permitted on the list and anyone who sends one is

automatically moderated or removed depending on the severity of the attack.

[Guest guest]

Kathleen

We have three generations of diagnosed mito. My mother was diagnosed

by symptoms and family history, but not until age 70 with a fairly

sudden onset (lots of symptoms developed within several months). My

sister and I have been diagnosed by muscle biopsy and our two brothers

have some symptoms, but are not diagnosed. One of my sons what

affected as a child, but doing better now (he knows he might get worse

over time) and the other has some suttle signs. They are both in their

30s. My sister's daughter had a negative biopsy, but she is

symptomatic and has been diagnosed by symptoms and family history. Our

transmission seems to be that of the mitochondrial DNA, but a genetic

work-up on me did not find the specific defect. My son't know of the

possiblity that they might be able to pass it on, but the likelihood

is that they can't. I feel the decision is now in their hands.

> How many of the folks here with adult onset mito have children with mito

> symptoms too?

>

> How old were your kids when their symptoms started?

>

> Is there anyone else here with no other family involvement?

>

> I¹m the only person in my family with any the major symptoms, though my mom

> has a hypothyroid condition and her brother died of ALS at 50. Our family

> was in a study at UCLA which determined that his ALS was not the type that

> has a familial pattern.

>

> Thanks,

> Kathleen

>

>

>

[Guest guest]

Pamela, Cin, Joanne, Laurie, Marie-

Thank you all for sharing your stories. My heart goes out to your family,

Marie. I guess I am somewhat of an oddity- my kids are fine, to the best of

my ability to discern, and while scary things are happening to me (I¹m 44),

they haven¹t happened to anyone else in my family.

I think I can handle anything if my kids are ok, and I hope by the time my

eight-year old is ready to think about becoming a parent, she¹ll have far

better information and treatment options to work with.

Kathleen

[Guest guest]

I have one child and she has been effected since birth.

Kathleen Robins wrote:

>How many of the folks here with adult onset mito have children with mito

>symptoms too?

>

>How old were your kids when their symptoms started?

>

>Is there anyone else here with no other family involvement?

>

>I¹m the only person in my family with any the major symptoms, though my mom

>has a hypothyroid condition and her brother died of ALS at 50. Our family

>was in a study at UCLA which determined that his ALS was not the type that

>has a familial pattern.

>

>Thanks,

>Kathleen

>

>

>

[Guest guest]

I mentioned my family a bit already, but to sum it up, I seem to be

the only mito'er in the family, although my paternal uncle got some

neuropathy at about age 80 (was completely fine before that).

Take care,

RH

>

> Dear Folks-

>

> How many of the folks here with adult onset mito have children with

mito symptoms too?

>

> How old were your kids when their symptoms started?

>

> Is there anyone else here with no other family involvement?

>

> I'm the only person in my family with any the major symptoms,

though my mom has a

> hypothyroid condition and her brother died of ALS at 50. Our family

was in a study at UCLA

> which determined that his ALS was not the type that has a familial

pattern.

>

> Thanks,

> Kathleen

>

[Guest guest]

Hi Kathleen,

I have 2 children ages 16 and 20 that both have mito I also have it and so

does my Mom. My son who is 20 is the most severely affected/ He also has severe

cyclic vomiting syndrome and POTS Dysautonomia all secondary to mito my daughter

has migraines and POTS/ Dysautonomia and I have POTS/ Dysautonomia. My son also

gets an IV once a month for hydration and he and I have pituatary lesions one

report states he has a pit. tumor.

Donna

---- dgregori dgregori@...> wrote:

> I have one child and she has been effected since birth.

>

>

>

> Kathleen Robins wrote:

>

> >How many of the folks here with adult onset mito have children with mito

> >symptoms too?

> >

> >How old were your kids when their symptoms started?

> >

> >Is there anyone else here with no other family involvement?

> >

> >I¹m the only person in my family with any the major symptoms, though my mom

> >has a hypothyroid condition and her brother died of ALS at 50. Our family

> >was in a study at UCLA which determined that his ALS was not the type that

> >has a familial pattern.

> >

> >Thanks,

> >Kathleen

> >

> >

> >