Test Results

[Guest guest]

No, I am not low carb!!!! I am going to do the test again, per her request.

I'm just wondering if there is anything to worry about if I am not eating low

carb and I still have ketones.

TIA,

Re: Test Results

hi

> 3. Ketones

>

> were in my urine. She wants me to take another test to double

check. What does this mean? Does it mean I could be at risk for

diabetes? I of course don't remember what exactly I ate the day of

the test...

>

Do you follow a reduced carb way of eating? If most of the calories

in your diet come from protein, fat, and veggies, then you will be

producing ketones as a by product of burning your body fat - which is

great!

Jo

[Guest guest]

>

>4. Homocysteine in blood is high

>

>I found the following site:

><http://familydoctor.org/handouts/249.html>http://familydoctor.org/handouts/249\

..html

>

>

>she says I should take folic acid--I've been meaning to eat more leafy

>dark greens, so I guess this is a good excuse to start. Or is this

>indicator for heart disease B.S?

Doctors are always thrilled to see low cholesterol numbers, but it isn't

necessarily a good thing. Low cholesterol plus low iron might indicate

malabsorption/gut problems (how were your calcium levels?), and it's a

classic thing with gluten intolerance. I don't think homocysteine is BS --

there really does seem to be a correlation with heart disease. But again,

it might mean malabsorption too, or other gut disorders. A lot of your B

vitamins are produced by bacteria in your gut -- a lot of times when people

finally go on a good diet they find their urine starts turning yellow for

the first time, because of the B vites being produced!

Heidi S

[Guest guest]

,

You can nail down your iron and folate issues in one fell swoop with more

liver! Also, lentils (which sprout marvelously) are loaded with folate.

Same for mung beans.

Mike

[Guest guest]

-

I wouldn't worry about the ketones unless you're eating sugar (and/or

starch) and still finding ketones. However, if you are at some kind of

risk for diabetes (which I'd guess is quite unlikely) the answer would just

be to reduce your carbs and eliminate your refined starches and sugars, so

it's not something to worry unduly about anyway.

Your total cholesterol seems alarmingly low to me. Perhaps some people

really should be that low, but I think it's highly unlikely you're one of

them. I agree with Heidi that your TC combined with your low iron is

suggestive of malabsorption, though I'm sure you won't be surprised to

learn that my recommendation is that you buy the latest edition of

_Breaking The Vicious Cycle_ and read it immediately, whereas Heidi's

recommendations would likely be somewhat different. <g>

Nor, I'm sure, will you be surprised to learn that my folate recommendation

is raw bison or lamb liver rather than leafy greens. For example, 100g of

raw spinach has 194mcg of folate, but 100g of cooked and drained fresh

spinach has 146mcg and 100g of cooked and drained frozen spinach has

108mcg, and you have to cook your spinach.

100g of raw beef liver, by comparison, has 248mcg of folate, and 100g of

raw lamb liver has 230mcg. The USDA database has no data on bison liver,

but I expect it's in the same range, maybe even higher. (If you actually

do decide to give raw liver a shot, I can give you a pile of tips on how to

ease the process now that I've become the world's premiere expert in eating

raw liver without any difficulty or discomfort at all.)

Now, ordinarily I'd say there's absolutely nothing wrong with eating dark

leafy greens (provided they're properly prepared to neutralize

antinutrients) particularly if they're accompanied by lots of cream and/or

butter. I love creamed spinach, for example. But if you do have

absorption problems, tons of leafy greens might not be the right thing for

you right now. Then again, you might not have absorption problems, but my

attitude would be better safe than sorry and why not experiment with trying

to improve the gut situation.

I trust this obscures. <g>

-

[Guest guest]

Thanks, Mike, for the suggestions.

Why oh why does it always come back to liver????

Still trying to eat more of it,

Re: Test Results

,

You can nail down your iron and folate issues in one fell swoop with more

liver! Also, lentils (which sprout marvelously) are loaded with folate.

Same for mung beans.

Mike

[Guest guest]

>though I'm sure you won't be surprised to

>learn that my recommendation is that you buy the latest edition of

>_Breaking The Vicious Cycle_ and read it immediately, whereas Heidi's

>recommendations would likely be somewhat different. <g>

But I'd agree that either approach would work, since BTVC doesn't allow

grains either. There are about 6 no or low-grain diets popular now,

so pick your theology (dietology?) and then avoid grains ... <G>

Heidi S

[Guest guest]

,

<< re - Iron is low -- her solution is to take a multi with extra iron. I say,

no way. Always thought iron supp. destroyed what little vit. E there was. I

guess I need to eat more red meat...ho hum.>>>

---- I find this vit. E comment interesting, never heard this one before... I

have a problem with low serum ferritin AND low blood iron, which doesn't' seem

to go away no matter how much iron I take in whatever formula [bTW, my

haemoglobin somehow manages to remain normal throughout] ... don't know what it

does to my vit. E levels but whenever I succumb and take iron supps. [at the

suggestion of a new specialist] I get really bad bouts of candidiasis, which no

doctor so far has been able to explain!

<<< re - Homocysteine in blood is high - I found the following site:

http://familydoctor.org/handouts/249.html she says I should take folic

acid--I've been meaning to eat more leafy dark greens, so I guess this is a good

excuse to start. Or is this indicator for heart disease B.S? >>

--- I had high homocysteine levels too but at the same time had severe B12

deficiency... took supps for that and B levels are very normal now... they

won't repeat the test as my folate levels are now normal and the two ARE

connected....

have you had your various Vit B levels checked?... that should give you a better

overall picture...

Dedy

[Guest guest]

Ian

Thats ok, I still love ya even if you feel like a fraud. <ggg>

Keep your chin up. I know you must feel really confused.

Elaine

[Guest guest]

Michele

I think you maybe onto to something about the internal temperature thing and the ability to lose weight. I have an exercise tape, Okay, it sounds bizarre, but it's a grea tape. It's called "Fat Free Yoga". In it, the instructor talks about "heating" up on the inside and offers exercises to do thus that. He says the heat is key to burning up anything we eat. Also, the exercises work on our endocrine system and on cravings for food.

I have also found that pilates exercises and the five Tibetans (you can look this up on the Internet) also create heat. I think it maybe worthwhile to look into this.

a

[Guest guest]

Hello ,

good to hear that you received a definite result on your gene

testing - we, my daughter & myself, are still waiting to

hear. the bloods were taken in December `04.

I can imagine how you must have been feeling about your result but

what a relief to know any future girls in your family will not carry

the infertility aspect. It has been with mixed feelings that my

daughter, aged 18, decided to go ahead & hopefully find out what type

she is. If it shows she could be at risk of POF she would like to

start her family earlier rather than later. it seems I probably had

POF as after was born we were never able to have more

children despite several attempts to get my ovaries to `do their

thing`. Of course back then there was no knowledge of the possible

link with my BPES. I was actually 28 when I conceived so maybe very

blessed to have her at all!!!

Anyway, thankyou for sharing - it gives us hope that they will be

able to tell us definitely what type we are too.

God Bless

Maree

--- In blepharophimosis , " katigraw " <katigraw@y...>

wrote:

> Hi Everyone,

>

> I have not written for awhile but thought I would share what

> happened to me today. Earlier this year I went to a genetic

> counsellor here in Canada and they arranged to have my blood sent

to

> Belgium for testing.

> I was told there was only about a 70% chance that they could tell

me

> whether I was Type One or Type two. Well luckily enough they were

> able to tell me.

> It is with mixed emotions that I found out that I am Type Two (no

> infertility problems). I have been married for almost 20 years and

> only have one child, a 16 year old son with BPES. I have never

been

> on birth control and we have been through everything trying to have

> another child including IVF. When I found out that there was a

> chance our problems were caused by the BPES I was so excited

> thinking, finally a reason for it. In the back of my mind I was

> hoping to find out that I was Type One so there would be a reason

> for the infertility but I was wrong, so I am back to square one

> wondering, why?

> On the other hand I could not be happier because if my son ever has

> a daughter with BPES at least I feel better knowing that she will

> not have the infertility issues to deal with, as they said if I am

> Type Two then so is my son and that it cannot change as it is

passed

> on through the generations.

> Anyway just thought I would share that as I have not heard from too

> many people with results from the testing in Belgium.

> Take care,

>

[Guest guest]

Thank you very much for sharing your news.

Beth

--- In blepharophimosis , " katigraw " <katigraw@y...>

wrote:

> Hi Everyone,

>

> I have not written for awhile but thought I would share what

> happened to me today. Earlier this year I went to a genetic

> counsellor here in Canada and they arranged to have my blood sent

to

> Belgium for testing.

> I was told there was only about a 70% chance that they could tell

me

> whether I was Type One or Type two. Well luckily enough they were

> able to tell me.

> It is with mixed emotions that I found out that I am Type Two (no

> infertility problems). I have been married for almost 20 years and

> only have one child, a 16 year old son with BPES. I have never

been

> on birth control and we have been through everything trying to have

> another child including IVF. When I found out that there was a

> chance our problems were caused by the BPES I was so excited

> thinking, finally a reason for it. In the back of my mind I was

> hoping to find out that I was Type One so there would be a reason

> for the infertility but I was wrong, so I am back to square one

> wondering, why?

> On the other hand I could not be happier because if my son ever has

> a daughter with BPES at least I feel better knowing that she will

> not have the infertility issues to deal with, as they said if I am

> Type Two then so is my son and that it cannot change as it is

passed

> on through the generations.

> Anyway just thought I would share that as I have not heard from too

> many people with results from the testing in Belgium.

> Take care,

>

[Guest guest]

How long did it take for your results to come in ? Was it covered by your insurance ( although Canada I am sure is different than the US) Would love to have my daughter tested. Let me know . Hugs to all...Sharon katigraw <katigraw@...> wrote:

Hi Everyone,I have not written for awhile but thought I would share what happened to me today. Earlier this year I went to a genetic counsellor here in Canada and they arranged to have my blood sent to Belgium for testing.I was told there was only about a 70% chance that they could tell me whether I was Type One or Type two. Well luckily enough they were able to tell me.It is with mixed emotions that I found out that I am Type Two (no infertility problems). I have been married for almost 20 years and only have one child, a 16 year old son with BPES. I have never been on birth control and we have been through everything trying to have another child including IVF. When I found out that there was a chance our problems were caused by the BPES I was so excited thinking, finally a reason for

it. In the back of my mind I was hoping to find out that I was Type One so there would be a reason for the infertility but I was wrong, so I am back to square one wondering, why? On the other hand I could not be happier because if my son ever has a daughter with BPES at least I feel better knowing that she will not have the infertility issues to deal with, as they said if I am Type Two then so is my son and that it cannot change as it is passed on through the generations.Anyway just thought I would share that as I have not heard from too many people with results from the testing in Belgium.Take care,<a href="http://www.TickerFactory.com/"><img border="0" src="http://www.TickerFactory.com/ezt/d/1;14;11/st/20050609/k/3901/preg.png"></a>__________________________________________________

[Guest guest]

Hi

I completely understand your search for a reason and your somewhat dissapointment. I was frantically looking for one too. My first pregnancy was spontaneous, then 12 months after I had my daughter we decided to have another baby. We tried for 12 months with no luck, then I had three miscarriages 6 months apart. They say that miscarriage is your body's way of telling you that something was wrong with the baby.. but three times. I was out of my mind. Then I discovered that there was a connection with BLEPH but the doctors kept saying if that was the case you couldnt have any children and you already have one.

Anyway, I have since then been blessed with a son who is almost 1. He has severe Bleph but very healthy in every other way.

I just wanted to share with you that I understand your frustration and your need to find a reason.

I wish you luck and you will be in my prayers.

Take Care

Karolin

katigraw <katigraw@...> wrote: Hi Everyone,I have not written for awhile but thought I would share what happened to me today. Earlier this year I went to a genetic counsellor here in Canada and they arranged to have my blood sent to Belgium for testing.I was told there was only about a 70% chance that they could tell me whether I was Type One or Type two. Well luckily enough they were able to tell me.It is with mixed emotions that I found out that I am Type Two (no infertility problems). I have been married for almost 20 years and only have one child, a 16 year old son with BPES. I have never been on birth control and we have been through everything trying to have another child including IVF. When I found out that there was a chance our problems were caused by the BPES I was so excited thinking, finally a reason for

it. In the back of my mind I was hoping to find out that I was Type One so there would be a reason for the infertility but I was wrong, so I am back to square one wondering, why? On the other hand I could not be happier because if my son ever has a daughter with BPES at least I feel better knowing that she will not have the infertility issues to deal with, as they said if I am Type Two then so is my son and that it cannot change as it is passed on through the generations.Anyway just thought I would share that as I have not heard from too many people with results from the testing in Belgium.Take care,Send instant messages to your online friends http://au.messenger.

[Guest guest]

Dear ,

Thank you so much for sharing your test results and

experience with us. I still have lots of research to

do, obviously, because I didn't know you could only

pass on the type you have. Does that mean that all

males are type 2 and can only pass type 2? (Wondering

for my son.)

Blessing to you and your family,

April

--- katigraw <katigraw@...> wrote:

> Hi Everyone,

>

> I have not written for awhile but thought I would

> share what

> happened to me today. Earlier this year I went to a

> genetic

> counsellor here in Canada and they arranged to have

> my blood sent to

> Belgium for testing.

> I was told there was only about a 70% chance that

> they could tell me

> whether I was Type One or Type two. Well luckily

> enough they were

> able to tell me.

> It is with mixed emotions that I found out that I am

> Type Two (no

> infertility problems). I have been married for

> almost 20 years and

> only have one child, a 16 year old son with BPES. I

> have never been

> on birth control and we have been through everything

> trying to have

> another child including IVF. When I found out that

> there was a

> chance our problems were caused by the BPES I was so

> excited

> thinking, finally a reason for it. In the back of

> my mind I was

> hoping to find out that I was Type One so there

> would be a reason

> for the infertility but I was wrong, so I am back to

> square one

> wondering, why?

> On the other hand I could not be happier because if

> my son ever has

> a daughter with BPES at least I feel better knowing

> that she will

> not have the infertility issues to deal with, as

> they said if I am

> Type Two then so is my son and that it cannot change

> as it is passed

> on through the generations.

> Anyway just thought I would share that as I have not

> heard from too

> many people with results from the testing in

> Belgium.

> Take care,

>

>

>

>

__________________________________________________

[Guest guest]

,

Thank-you for sharing. We live in Canada too, and sent blood work to

Belgium this summer for our daughter. I hope we are as successful in

getting answers as you have been. How long did it take you from when

you first sent in to when you received your results? We have learned

not to expect anything too quickly, however I have heard that this

particular group is quite good at getting results a little faster.

Trish

blepharophimosis test results

Hi Everyone,

I have not written for awhile but thought I would share what

happened to me today. Earlier this year I went to a genetic

counsellor here in Canada and they arranged to have my blood sent to

Belgium for testing.

I was told there was only about a 70% chance that they could tell me

whether I was Type One or Type two. Well luckily enough they were

able to tell me.

It is with mixed emotions that I found out that I am Type Two (no

infertility problems). I have been married for almost 20 years and

only have one child, a 16 year old son with BPES. I have never been

on birth control and we have been through everything trying to have

another child including IVF. When I found out that there was a

chance our problems were caused by the BPES I was so excited

thinking, finally a reason for it. In the back of my mind I was

hoping to find out that I was Type One so there would be a reason

for the infertility but I was wrong, so I am back to square one

wondering, why?

On the other hand I could not be happier because if my son ever has

a daughter with BPES at least I feel better knowing that she will

not have the infertility issues to deal with, as they said if I am

Type Two then so is my son and that it cannot change as it is passed

on through the generations.

Anyway just thought I would share that as I have not heard from too

many people with results from the testing in Belgium.

Take care,

[Guest guest]

I too feel like I have so much to still learn....Its annoying that you just can;t get all the info from a dr ??? Can someone pass along the info on where the testing is done...Has anyone in the states gone through testing ? april Eisele <aprileisele@...> wrote:

Dear ,Thank you so much for sharing your test results andexperience with us. I still have lots of research todo, obviously, because I didn't know you could onlypass on the type you have. Does that mean that allmales are type 2 and can only pass type 2? (Wonderingfor my son.) Blessing to you and your family,April--- katigraw <katigraw@...> wrote:> Hi Everyone,> > I have not written for awhile but thought I would> share what > happened to me today. Earlier this year I went to a> genetic > counsellor here in Canada and they arranged to have> my blood sent to > Belgium for testing.> I was told there was only about a 70% chance that> they could tell me > whether I was Type One or Type two. Well

luckily> enough they were > able to tell me.> It is with mixed emotions that I found out that I am> Type Two (no > infertility problems). I have been married for> almost 20 years and > only have one child, a 16 year old son with BPES. I> have never been > on birth control and we have been through everything> trying to have > another child including IVF. When I found out that> there was a > chance our problems were caused by the BPES I was so> excited > thinking, finally a reason for it. In the back of> my mind I was > hoping to find out that I was Type One so there> would be a reason > for the infertility but I was wrong, so I am back to> square one > wondering, why? > On the other hand I could not be happier because if> my son ever has > a daughter with BPES at least I feel better

knowing> that she will > not have the infertility issues to deal with, as> they said if I am > Type Two then so is my son and that it cannot change> as it is passed > on through the generations.> Anyway just thought I would share that as I have not> heard from too > many people with results from the testing in> Belgium.> Take care,> > > > __________________________________________________

[Guest guest]

From what I have understood, males can be type 1 or 2 but their

ferility is unaffected by their type.

Females can be type 1 and still conceive (before onset of POF), also

can be type 2 and have fertility problems (just like anyone can,

unrelated to BPES. It is confusing. Also, sometimes the genetic

testing is inconclusive and you can be tested but still not know if

you are type 1 or 2.

>

> > Hi Everyone,

> >

> > I have not written for awhile but thought I would

> > share what

> > happened to me today. Earlier this year I went to a

> > genetic

> > counsellor here in Canada and they arranged to have

> > my blood sent to

> > Belgium for testing.

> > I was told there was only about a 70% chance that

> > they could tell me

> > whether I was Type One or Type two. Well luckily

> > enough they were

> > able to tell me.

> > It is with mixed emotions that I found out that I am

> > Type Two (no

> > infertility problems). I have been married for

> > almost 20 years and

> > only have one child, a 16 year old son with BPES. I

> > have never been

> > on birth control and we have been through everything

> > trying to have

> > another child including IVF. When I found out that

> > there was a

> > chance our problems were caused by the BPES I was so

> > excited

> > thinking, finally a reason for it. In the back of

> > my mind I was

> > hoping to find out that I was Type One so there

> > would be a reason

> > for the infertility but I was wrong, so I am back to

> > square one

> > wondering, why?

> > On the other hand I could not be happier because if

> > my son ever has

> > a daughter with BPES at least I feel better knowing

> > that she will

> > not have the infertility issues to deal with, as

> > they said if I am

> > Type Two then so is my son and that it cannot change

> > as it is passed

> > on through the generations.

> > Anyway just thought I would share that as I have not

> > heard from too

> > many people with results from the testing in

> > Belgium.

> > Take care,

> >

> >

> >

> >

>

>

> __________________________________________________

>

[Guest guest]

From what I have understood, males can be type 1 or 2 but their

ferility is unaffected by their type.

Females can be type 1 and still conceive (before onset of POF), also

can be type 2 and have fertility problems (just like anyone can,

unrelated to BPES. It is confusing. Also, sometimes the genetic

testing is inconclusive and you can be tested but still not know if

you are type 1 or 2.

>

> > Hi Everyone,

> >

> > I have not written for awhile but thought I would

> > share what

> > happened to me today. Earlier this year I went to a

> > genetic

> > counsellor here in Canada and they arranged to have

> > my blood sent to

> > Belgium for testing.

> > I was told there was only about a 70% chance that

> > they could tell me

> > whether I was Type One or Type two. Well luckily

> > enough they were

> > able to tell me.

> > It is with mixed emotions that I found out that I am

> > Type Two (no

> > infertility problems). I have been married for

> > almost 20 years and

> > only have one child, a 16 year old son with BPES. I

> > have never been

> > on birth control and we have been through everything

> > trying to have

> > another child including IVF. When I found out that

> > there was a

> > chance our problems were caused by the BPES I was so

> > excited

> > thinking, finally a reason for it. In the back of

> > my mind I was

> > hoping to find out that I was Type One so there

> > would be a reason

> > for the infertility but I was wrong, so I am back to

> > square one

> > wondering, why?

> > On the other hand I could not be happier because if

> > my son ever has

> > a daughter with BPES at least I feel better knowing

> > that she will

> > not have the infertility issues to deal with, as

> > they said if I am

> > Type Two then so is my son and that it cannot change

> > as it is passed

> > on through the generations.

> > Anyway just thought I would share that as I have not

> > heard from too

> > many people with results from the testing in

> > Belgium.

> > Take care,

> >

> >

> >

> >

>

>

> __________________________________________________

>

[Guest guest]

Hi there,

If anyone has any info about males and type 1 or 2, we would love to know more about it! Our son Ethan is the only one in either side of the family with bleph. We did not know that whatever type he is, would be passed to his children, meaning that if he was type and had a girl then they would automatically be type 2 and be faced woth POF! In that case it would be worth getting him tested just to have the knowledge to pass onto the next generation! Please let us know:)

leanne and family NZ

-- blepharophimosis Re: test results

From what I have understood, males can be type 1 or 2 but their

ferility is unaffected by their type.

Females can be type 1 and still conceive (before onset of POF), also

can be type 2 and have fertility problems (just like anyone can,

unrelated to BPES. It is confusing. Also, sometimes the genetic

testing is inconclusive and you can be tested but still not know if

you are type 1 or 2.

>

> > Hi Everyone,

> >

> > I have not written for awhile but thought I would

> > share what

> > happened to me today. Earlier this year I went to a

> > genetic

> > counsellor here in Canada and they arranged to have

> > my blood sent to

> > Belgium for testing.

> > I was told there was only about a 70% chance that

> > they could tell me

> > whether I was Type One or Type two. Well luckily

> > enough they were

> > able to tell me.

> > It is with mixed emotions that I found out that I am

> > Type Two (no

> > infertility problems). I have been married for

> > almost 20 years and

> > only have one child, a 16 year old son with BPES. I

> > have never been

> > on birth control and we have been through everything

> > trying to have

> > another child including IVF. When I found out that

> > there was a

> > chance our problems were caused by the BPES I was so

> > excited

> > thinking, finally a reason for it. In the back of

> > my mind I was

> > hoping to find out that I was Type One so there

> > would be a reason

> > for the infertility but I was wrong, so I am back to

> > square one

> > wondering, why?

> > On the other hand I could not be happier because if

> > my son ever has

> > a daughter with BPES at least I feel better knowing

> > that she will

> > not have the infertility issues to deal with, as

> > they said if I am

> > Type Two then so is my son and that it cannot change

> > as it is passed

> > on through the generations.

> > Anyway just thought I would share that as I have not

> > heard from too

> > many people with results from the testing in

> > Belgium.

> > Take care,

> >

> >

> >

> >

>

>

> __________________________________________________

>

[Guest guest]

costellos wrote:

> Hi there,

>

> If anyone has any info about males and type 1 or 2, we would love to know

> more about it! Our son Ethan is the only one in either side of the family

> with bleph. We did not know that whatever type he is, would be passed to his

> children, meaning that if he was type and had a girl then they would

> automatically be type 2 and be faced woth POF! In that case it would be

> worth getting him tested just to have the knowledge to pass onto the next

> generation! Please let us know:)

According to one source I've read (Oley & Baraitser, 1988), researchers

(Zlotogora, et al, 1983) " found there was a deviation from the expected

sex ratio among children of affected fathers in both types. In type I,

most of the children were males and most male offspring were affected,

whereas in type II, most of the children were females and most of the

female offspring were affected. "

If you want the full references of those journal articles (which I'm too

lazy to type in tonight, but have posted previously) let me know.

Rob W.

[Guest guest]

I don't really get what you just wrote, so you are saying that this

article quoted that TYPE 1 is more common in males, and usually their

daughters are not affected by BPES, and TYPE 2 more common in females

and usually their sons are not affected by BPES????

I'd be really interested to see these articles.

My grandpa has BPES(first case), he passed it to his son, (my dad)

his daughter (my aunt) doesn't have it, my dad passed it to me(his

daughter), his son (my brother) doesn't have it, and now my daughter

has it. I don't know if we are TYPE 1 or 2. I could be TYPE 2 but

managed to have a daughter anyway.... by the time these little ones

are grown, technology will have advanced so greatly!

Beth

>

> > Hi there,

> >

> > If anyone has any info about males and type 1 or 2, we would love

to know

> > more about it! Our son Ethan is the only one in either side of

the family

> > with bleph. We did not know that whatever type he is, would be

passed to his

> > children, meaning that if he was type and had a girl then they

would

> > automatically be type 2 and be faced woth POF! In that case it

would be

> > worth getting him tested just to have the knowledge to pass onto

the next

> > generation! Please let us know:)

>

> According to one source I've read (Oley & Baraitser, 1988),

researchers

> (Zlotogora, et al, 1983) " found there was a deviation from the

expected

> sex ratio among children of affected fathers in both types. In type

I,

> most of the children were males and most male offspring were

affected,

> whereas in type II, most of the children were females and most of

the

> female offspring were affected. "

>

> If you want the full references of those journal articles (which

I'm too

> lazy to type in tonight, but have posted previously) let me know.

>

> Rob W.

[Guest guest]

Hi Rob,

Yes please send them on to us, would be interesting to find out more about this:)

Leanne NZ

-- blepharophimosis Re: test results

I don't really get what you just wrote, so you are saying that this

article quoted that TYPE 1 is more common in males, and usually their

daughters are not affected by BPES, and TYPE 2 more common in females

and usually their sons are not affected by BPES????

I'd be really interested to see these articles.

My grandpa has BPES(first case), he passed it to his son, (my dad)

his daughter (my aunt) doesn't have it, my dad passed it to me(his

daughter), his son (my brother) doesn't have it, and now my daughter

has it. I don't know if we are TYPE 1 or 2. I could be TYPE 2 but

managed to have a daughter anyway.... by the time these little ones

are grown, technology will have advanced so greatly!

Beth

>

> > Hi there,

> >

> > If anyone has any info about males and type 1 or 2, we would love

to know

> > more about it! Our son Ethan is the only one in either side of

the family

> > with bleph. We did not know that whatever type he is, would be

passed to his

> > children, meaning that if he was type and had a girl then they

would

> > automatically be type 2 and be faced woth POF! In that case it

would be

> > worth getting him tested just to have the knowledge to pass onto

the next

> > generation! Please let us know:)

>

> According to one source I've read (Oley & Baraitser, 1988),

researchers

> (Zlotogora, et al, 1983) "found there was a deviation from the

expected

> sex ratio among children of affected fathers in both types. In type

I,

> most of the children were males and most male offspring were

affected,

> whereas in type II, most of the children were females and most of

the

> female offspring were affected."

>

> If you want the full references of those journal articles (which

I'm too

> lazy to type in tonight, but have posted previously) let me know.

>

> Rob W.

[Guest guest]

Hi "groupies" lol

Many people wrote to me asking me to pass on my test results from the heart testing, which I got yesterday. Would have done it sooner but have been in the hospital with Dad all night with heart his failure. Another day of wondering which one of us will go first. Later today I go have lung tests at the hospital and tomorrow also...so the staff is getting to know me well there.

All these years (10) the doctors blamed it on fibro. Finally I told them fibro does not make your oxygen go down and make it so you can only stand for 10 seconds without your heart rate racing like you are in a race, so they started testing . It turns out the test only showed my heart itself and the veins on the outside of the heart. It did not show the arteries going into the heart and out of the heart, so I have to have another for that. These tests have taken 6 weeks each to schedule, so I have been flat in bed, making mom and I almost starve due to it...but today the Dr. scheduled an emergency lung test to see if I have lung clots. I have that on Friday. My gosh, I have to go to 4 different buildings that day for the lung tests. I can barely walk. I am using a walker. I wonder what they do to people who are sicker than me and can't get to all these tests! Anyway the arteries ON the heart are not blocked, but other arteries attached could be, but they found a dangerous arrhythmia, which could kill me at any moment. My heart rate jumps around from 60 to 180 then 90 then 204, bouncing around, and with walking 10 steps my heart rate goes to 145 and my blood pressure is LOW. Low blood pressure and high heart rate puts a person into shock, so that explains all the hours of semi consciousness/

unconsciousness I deal with each week. It has not explained my 86% oxygen saturation rate or my inability to stand or walk for more than a few minutes.

At first the doc said I might not live a year because of the amount of damage my heart showed in 6 weeks between EKGs...and he said if there was a treatment, it would take 6 to 12 months to get the treatment, and in that amount of time my heart might be too damaged to get any surgery. So today, there is no surgery, no treatment, so I will not get that "feeling better than when I went in" surgery that I was hoping for. Now I am doubting if I can even be a wife. I wa hoping I would be eligible for an angioplasty which would make me feel bettre than I've felt in 10 years, but that just seems too good to be true. I don't get things that easily. So far, there is no treatment, so its back to bare survival. I would love to just go to the mall or go to the park! Well I'm sure I wore you out, I'm sorry. I wore myself out. Just wanted to thank you all again and I hope you will each be blessed 100x more than you blessed me.

BLESSINGS TO YOU ALL, Sheila W

[Guest guest]

{{{{Sheila}}}}

You are in my heart, my thoughts and prayers and I am sending you

love. I don't have much time to respond in full right now but I would

like to send you a seperate letter. Pls know that you are loved,

cherished and YOU WILL GET THROUGH ALL OF THIS WITH LOVE...we just

need to learn to soak it all in and believe we deserve it! I'm right

here with you in this........@-{-----

xoxox Dove

[Guest guest]

WOW! I am going through very similar symptoms my dear.. and many many

tests also.. It has gotten to the point that I can't get from my car

and through a Grocery store without my legs and hips just going numb,

and my hips don't or won't go any further.. Then my heart races as if

I just ran up and down the block..

I feel you.. and I also just had an MRI done, Also an Ultra sound on

my Aorta, Carotid artery and Femoral artery.. Waiting for results now..

This has really worried me to the point that I have gone on a very

strict diet, and other things as a process of elimination..

My thoughts and prayers are with you.. I do understand and feel you!

Thank you for sharing..as it is meant to be shared..

Much love to you..

~Karma

>

> Hi " groupies " lol

> Many people wrote to me asking me to pass on my test results from

the heart testing, which I got yesterday. Would have done it sooner

but have been in the hospital with Dad all night with heart his

failure. Another day of wondering which one of us will go first. Later

today I go have lung tests at the hospital and tomorrow also...so the

staff is getting to know me well there.

> All these years (10) the doctors blamed it on fibro. Finally I

told them fibro does not make your oxygen go down and make it so you

can only stand for 10 seconds without your heart rate racing like you

are in a race, so they started testing . It turns out the test only

showed my heart itself and the veins on the outside of the heart. It

did not show the arteries going into the heart and out of the heart,

so I have to have another for that. These tests have taken 6 weeks

each to schedule, so I have been flat in bed, making mom and I almost

starve due to it...but today the Dr. scheduled an emergency lung test

to see if I have lung clots. I have that on Friday. My gosh, I have to

go to 4 different buildings that day for the lung tests. I can barely

walk. I am using a walker. I wonder what they do to people who are

sicker than me and can't get to all these tests! Anyway the arteries

ON the heart are not blocked, but other arteries attached could be,

but they found a dangerous arrhythmia, which could kill me at any

moment. My heart rate jumps around from 60 to 180 then 90 then 204,

bouncing around, and with walking 10 steps my heart rate goes to 145

and my blood pressure is LOW. Low blood pressure and high heart rate

puts a person into shock, so that explains all the hours of semi

consciousness/

> unconsciousness I deal with each week. It has not explained my 86%

oxygen saturation rate or my inability to stand or walk for more than

a few minutes.

> At first the doc said I might not live a year because of the

amount of damage my heart showed in 6 weeks between EKGs...and he said

if there was a treatment, it would take 6 to 12 months to get the

treatment, and in that amount of time my heart might be too damaged to

get any surgery. So today, there is no surgery, no treatment, so I

will not get that " feeling better than when I went in " surgery that I

was hoping for. Now I am doubting if I can even be a wife. I wa

hoping I would be eligible for an angioplasty which would make me feel

bettre than I've felt in 10 years, but that just seems too good to be

true. I don't get things that easily. So far, there is no treatment,

so its back to bare survival. I would love to just go to the mall or

go to the park! Well I'm sure I wore you out, I'm sorry. I wore myself

out. Just wanted to thank you all again and I hope you will each be

blessed 100x more than you blessed me.

> BLESSINGS TO YOU ALL,

> Sheila W

>