Inheritance

[Guest guest]

Do you really think that it runs in families because we are genetically

wired with this disorder? Or could it be that it runs in families because

we share certain factors like diet, exercise level and environment.

My 3 sons, my mother, two sisters in law, my mother in law and my husband

all have the same thing going on.

We have all lived in the same state except for one sister in law.

I have three brothers are who are currently being tested.

Scary...

I'm not so sure that this was here at birth so much as it is

something that was " handed-down " or learned, or just years of toxicity or

lack

of something vital that has just finally manifested itself.

chriss in Greeley.

[Guest guest]

My sister and I are the first ones in my family 'that i know of',and recently my

two neices and my daughter.I believe it's all connected.They give gov grant's to

study how many ants it takes to make a lb of bear poop( " truth " ),this would be a

study worth spending the money on.

Shirl

Re: inheritance

Do you really think that it runs in families because we are genetically

wired with this disorder? Or could it be that it runs in families because

we share certain factors like diet, exercise level and environment.

My 3 sons, my mother, two sisters in law, my mother in law and my husband

all have the same thing going on.

We have all lived in the same state except for one sister in law.

I have three brothers are who are currently being tested.

Scary...

I'm not so sure that this was here at birth so much as it is

something that was " handed-down " or learned, or just years of toxicity or

lack

of something vital that has just finally manifested itself.

chriss in Greeley.

[Guest guest]

With the increase in auto-immune diseases (last week Parada magazine)

you would suspect that most of this is environment. But it does seem

that we could have an inhertant ability towards speciffic weaknesses

that are just waiting to erupt.

As in my daughters case I see it was what she was eating, what she

took out of her diet, being on a restrictive diet, under a lot of

stress (trying to get into college), working too many hours, and some

members of our family have endo problems. So it was just lying ready

to surface.

We can pinpoint the exact time this all took place as well as her

trip to Mexico right after graduation where she picked up some kind

of bug, which caused her immue system to have to really fight.

This was just too much all at once for her system and she became very

ill. The body recovers but the problem is it never recovers

completely until you change and repair all the damage.

As for so many families and why it's increasing world wide, we all

work harder, play harder and our stress levels are very high. Think

back to when mom's only stayed home and dad's worked 9-5. Not

anymore, we all work 10 hour days or more, we all try and achieve

more. We eat on the run and our environment is polluted with less

nutrients in our soil. WE really have done this to ourselves, we have

slowly destroyed ourselves and it shows up in all these different

kinds of diseases and variations of them.

The only thing you can do is change your life, change your diet and

work on getting better, no one drug, vitamin can do it all---and you

have to be willing to except this and try to change.

Our daughter eats a very large variation of foods now, she is taking

less classes, she stopped interning, she is sleeping more, she is

taking in many supplements and vitamins. She is learning to deal with

an illness and not allowing it to take over her life.

She has learned to slow down most of all.

I see today's illness as not one but a multiple of many. tina

-- In hypothyroidism , Aprilcupcake@a... wrote:

> Do you really think that it runs in families because we are

genetically

> wired with this disorder? Or could it be that it runs in families

because

> we share certain factors like diet, exercise level and environment.

> My 3 sons, my mother, two sisters in law, my mother in law and my

husband

> all have the same thing going on.

> We have all lived in the same state except for one sister in law.

> I have three brothers are who are currently being tested.

> Scary...

> I'm not so sure that this was here at birth so much as it is

> something that was " handed-down " or learned, or just years of

toxicity or

> lack

> of something vital that has just finally manifested itself.

> chriss in Greeley.

>

>

>

[Guest guest]

Ron,

Perhaps you are referring to direct 'parent-child inheritance'. CMT is genetic,

that is clear now. However, HOW the gene is mutated in not only the family DNA

or the individual DNA is referred to as " inheritance " . In some situations, for

example, recessive inheritance, CMT may totally skip generations. Other times

CMT can appear sporadically, and still other times, CMT can appear 'absent' in

family, where the symptoms were so slight or even completely absent, but CMT can

still be there (asymptomatic). A so called 'spontaneous mutation' can actually

be CMT appearing with pronounced symptoms where none existed before (or were

'seen' before, although their are a very small percentage of persons who do have

a bonafide spontanous mutation, but these are still *rare*.)

As I have stated before, the CMT gene has been proved by researchers to have

existed as far as 7 million years ago and goes as far back into human evolution

as when humankind evolved from gorilla. 7 million years of a CMT gene, mutating,

reproducing, and being present in DNA is alot of 'family history' that most of

us, myself included - until I was working on my own research, are unaware of.

Despite your severity, I hope you can awake each day with a peaceful and

grateful heart knowing how special you are. In my experience, my attitude goes

along way into full acceptance - of everything in my life.

~ Gretchen

[Guest guest]

Umm no, for sure no one in my family has it but me, if they did have it they

would also have the defect that I do indeed have, in addition it would be in

all my cells and not just a small amount of them. In my case I am sure it was a

mutation after conception.

Re: inheritance

Ron,

Perhaps you are referring to direct 'parent-child inheritance'. CMT is

genetic, that is clear now. However, HOW the gene is mutated in not only the

family DNA or the individual DNA is referred to as " inheritance " . In some

situations, for example, recessive inheritance, CMT may totally skip

generations. Other times CMT can appear sporadically, and still other times, CMT

can appear 'absent' in family, where the symptoms were so slight or even

completely absent, but CMT can still be there (asymptomatic). A so called

'spontaneous mutation' can actually be CMT appearing with pronounced symptoms

where none existed before (or were 'seen' before, although their are a very

small percentage of persons who do have a bonafide spontanous mutation, but

these are still *rare*.)

As I have stated before, the CMT gene has been proved by researchers to have

existed as far as 7 million years ago and goes as far back into human evolution

as when humankind evolved from gorilla. 7 million years of a CMT gene, mutating,

reproducing, and being present in DNA is alot of 'family history' that most of

us, myself included - until I was working on my own research, are unaware of.

Despite your severity, I hope you can awake each day with a peaceful and

grateful heart knowing how special you are. In my experience, my attitude goes

along way into full acceptance - of everything in my life.

~ Gretchen

[Guest guest]

Ron,

My father had CMT and none of his brothers or sisters show any signs of it and

he has 2 sisters and 2 brothers. Both me and my sister have it and I have it

worse than she does and worse than my father did, He got it from his father who

was bed ridden when he died. So I'm sure someone in your family has it but

doesn't show any signs. Has anyone else in your family been tested for CMT if

not how can you say they don't have the defect? My father was about 58 when he

was diagnosed with CMT so he went 58 years without knowing he had it. Plus

Gretchen knows alot about CMT and does alot of research and deals with alot of

doctors who know about CMT.

Tommy

[Guest guest]

Hi

I decided to change the subject of this dialogue, because we are

talking more about inheritance, and I thought it would be easier for people to

pick up on this topic.

The explanation to all this (see posts below) lies in this link:

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene & part=bpes

Scroll to the section called: Risk to Family

Members — Autosomal Dominant Inheritance

This is the para:

·

If

a disease-causing FOXL2 mutation cannot be detected in the DNA of either parent, two possible

explanations are germline mosaicism in a parent or a de

novo mutation in the proband. The risk to the sibs of the proband depends on the probability of germline mosaicism in a parent of the proband and the spontaneous mutation rate of FOXL2.

·

Germline mosaicism has been observed in AD BPES and

demonstrated at the molecular level [beysen et al 2005]; its

incidence is unknown.

And this link below has an explanation of Germline mosaicism

http://www.hihg.org/modules/education/Design/Print.asp?CourseNum=2 & LessonNum=3

the above site is from the University of Miami … stop when

you reach section 3.2.1

I don’t know if it is relevant at all, but I know of three

families where this has happened.

In one case, one dad parented two children with different mothers.

His first wife had a child with BPES, as did his second wife. He did not have

BPES. In some cases, I am told, the BPES is so mild that it is barely noticeable.

But that man told me that he was tested and that no parents had BPES. From what

I understand, this suggests Germline Mosaicism, but of course, it could be the really

rare situation that Micah is referring to.

The best thing to do is to read both of those links … it

will give you a pretty good idea of the subject, and then you can discuss it

with a genetics counsellor.

If any medics are reading this (big wave J

) please do correct me, or elaborate on this.

Thanks

Shireen Mohandes

London, England

From: blepharophimosis

[mailto:blepharophimosis ] On Behalf Of Micah Truman

Sent: 16 December 2009 07:52

blepharophimosis

Subject: RE: blepharophimosis " Good doctors " List

Wow,

that really is unusual. So far as I was aware, the only two options of

becoming a BPES carrier are either genetic mutation, are receiving the gene

from a parent. Following this logic, this means that you had 2 kids

with genetic mutations resulting in BPES – that is statistically almost

impossible, I would guess. That must mean that there is another genetic

factor at play – I am sure some of the doctors studying the genetics of

BPES would be very interested in this.

In

any case, thanks for sharing this!

Best,

Micah

From: blepharophimosis

[mailto:blepharophimosis ] On Behalf Of PJC930@...

Sent: Tuesday, December 15, 2009 11:44 PM

blepharophimosis

Subject: Re: blepharophimosis " Good doctors " List

I know it

is. I did have some genetic testing on my son (He was my first

born) and they said it was just a freak thing to have and that it was not

likely to have another child with BPES. So we had 3 more kids that dont

have it. We decided to have 5th to try to have a girl for my 7 yr

old. My 5th and a girl was born with BPES. She didnt open her eyes

for 2 wks after she was born. My son opened his the 2nd day he was

born. The hospital were they both were born delivered 36,000

children between my son and my daughter. My son and daughter were

the only ones that had BPES. She now weres glasses at age 4 for her

stigmatisum in her eyes. My 11 son doesnt wear glasses at all. Me

and my husband researched back to our great grandparents and no one had

anything wrong. I did when I was a kid had one lazey eye. I

hope this info helps.- a

a J.

Crowley

Re: blepharophimosis " Good doctors " List

Hi-

I have 5 kids and 2 of them have BPES.One Girl 4yrs and One Boy 11 yrs.

The other 3 kids don't have BPES nor my husband and I . The best doctor

in the Boston , MA

Area

is Doctor Townsend

Mass Eye and Ear

175

Cambridge Street

Boston,

MA 02114

(617)723-3937

We live around 1 hr away.

When

my 1st son was born w/ BPES we were told he had BPES the 2nd day in the

hospital. I original went to Childrens Hospital to see Dr Rob. He

was getting ready to retire. Dr Townsend was reccommend to my Husband and

I. He is AMAZING!!! I had 3 more kids w/o BPES. My last child

that is a Girl is 4 yrs old and Dr. Townsend operated on her as well. I

hope this helps.- Have a Fun & Safe Holiday Season.

a

Crowley

Middleboro,

MA

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