genetics visit

[Guest guest]

In a message dated 10/4/2002 6:49:39 AM Eastern Standard Time,

jenny_cgf@... writes:

> : " The spectrum of Silver- syndrome; a clinical and molecular genetic

> study and new diagnostic criteria " .

,

It was unfortunate that she couldn't come, do you know what the

conclusion of this study said?

[Guest guest]

http://google.yahoo.com/bin/query?p=The+spectrum+of+Silver-+syndrome%

3b+a+clinical+and+molecular+genetic+study+and+new+diagnostic+criteria&hc=0&h

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At 11:32 AM 10/4/2002 +0100, you wrote:

>

> Sue Price was at the CGF convention in 1999 and 2001. She was due to come and

> talk last month but unfortunately was unable to. The study she did was

> entitled : " The spectrum of Silver- syndrome; a clinical and molecular

> genetic study and new diagnostic criteria " . S M Price, R Stanhope, M A

> Preece, R C Trembath.

> I believe they are now doing some follow up on this also.

>

> (CGF and Georgia's Mum)

>

>

>

>

[Guest guest]

http://google.yahoo.com/bin/query?p=The+spectrum+of+Silver-+syndrome%

3b+a+clinical+and+molecular+genetic+study+and+new+diagnostic+criteria&hc=0&h

s=0&ac=

http://www.geneclinics.org/query?dz=rss

At 11:32 AM 10/4/2002 +0100, you wrote:

>

> Sue Price was at the CGF convention in 1999 and 2001. She was due to come and

> talk last month but unfortunately was unable to. The study she did was

> entitled : " The spectrum of Silver- syndrome; a clinical and molecular

> genetic study and new diagnostic criteria " . S M Price, R Stanhope, M A

> Preece, R C Trembath.

> I believe they are now doing some follow up on this also.

>

> (CGF and Georgia's Mum)

>

>

>

>

[Guest guest]

Betty,

I just wanted to say that I feel like you are an incredibly brave and heroic

person. If I were in your shoes, I can't imagine that I would handle near as

well as you have. I'm sorry that I have no advice concerning routine tests and

all but I do just wanted to let you know how much I admire you. I know that

for yourself, you have days you probably feel anything but brave. That is normal

but you have far more strength inside than you think! You are an inspiration

for many of us!

Hugs,

[Guest guest]

Hi all

Well my husband & I have just come from the genetecist and I have to say I

always seem to have more questions than there are answers. As most of you are

aware I have been diagnosed with VEDS. They did this testing after the sudden

death of our 13 year old son due to aortic rupture. They did DNA testing on him

and found the identical mutation. It doesn't sit very well with me but I am

starting to be a little more accepting of it. We found out that any relatives

ie. my parents should have blood work done.......of course there is always a

catch because the genetecist stated that there could be problems with life

insurance if they find the test to be positive. My parents are both 74 and

retired and have next to no money and they already think I am rocking the boat

by asking them to be tested, so I am fearing that they will not want to do this.

Some of you know the story surrounding our son's death but for those who don't a

very brief summary is.......on May 24th of last year he was taken to the ER with

severe chest pain & jaw pain. He was at the driving range with his Dad & brother

when he started complaing. (he had the previous day done some hard phsyical work

using a seldgehammer to tear down an old treehouse). Anyway at the ER there was

an EKG, heart tracings, chest xray, bloodwork & a urine test done. The only test

that showed something was the urine test which we were to repeat later that

week. His pain went away and he was sent home. We did the urine test on the

following Thursday and the family doc called on the Friday saying he needs to

see him so I wanted to come in that day but the receptionist didn't have any

appointments so we made it for Monday.......he never made it. On that Friday

night he complained of a severe headache and died in my arms a few minutes

later. So now we are left with questions.......yes we have a diagnosis but today

the genetecist thought that his pain from 6 days before his death was the tear

in his aorta starting however the ER doc said after his death that if it started

to tear it would have continued right away. Who is right...How come they can't

get their shit together??? So now my husband & I are left thinking ........could

this have been prevented. Why the hell aren't these docotrs educated about this

dreaded syndrome??? I realize now that my health care is going to be left up to

me. I asked the genetecist about seeing a vascular doc, about regular testing

i.e. echo, CT, MRI. He replied certainly you can do that if you want. Basically

he has done his part and now I have to look after myself. Are there any

suggestions out there from VEDS people about tests to have on a regular basis??

I do not have any medical issues at the moment. And for those who know about my

recent MRI the genetecist didn't see anything that would indicate a relation

between that &VEDS, however my trust level isn't to high at the moment with the

medical field.

Thanks for listening to my complaining but right now I have a real bitch on for

the world it seems, but as always I can come here & complain.

Thanks again

Betty

[Guest guest]

> Thanks for listening to my complaining but right now I have a real

bitch on for the world it seems, but as always I can come here &

complain.

I don't blame you a BIT, Betty! I feel the same way, and my problems

are MINUTE compared to yours! I don't have any advice for you, but I

think Sue Ginley may be able to help you, along with others. I have

Hypermobile EDS.

I just wanted to let you know that you're not alone, and that we hear

you, even if we can't help much; so whenever you need to vent, just

sign on and vent away!

You and your family are in my thoughts and prayers!

Love Lana

[Guest guest]

> Thanks for listening to my complaining but right now I have a real

bitch on for the world it seems, but as always I can come here &

complain.

I don't blame you a BIT, Betty! I feel the same way, and my problems

are MINUTE compared to yours! I don't have any advice for you, but I

think Sue Ginley may be able to help you, along with others. I have

Hypermobile EDS.

I just wanted to let you know that you're not alone, and that we hear

you, even if we can't help much; so whenever you need to vent, just

sign on and vent away!

You and your family are in my thoughts and prayers!

Love Lana

[Guest guest]

> Thanks for listening to my complaining but right now I have a real

bitch on for the world it seems, but as always I can come here &

complain.

I don't blame you a BIT, Betty! I feel the same way, and my problems

are MINUTE compared to yours! I don't have any advice for you, but I

think Sue Ginley may be able to help you, along with others. I have

Hypermobile EDS.

I just wanted to let you know that you're not alone, and that we hear

you, even if we can't help much; so whenever you need to vent, just

sign on and vent away!

You and your family are in my thoughts and prayers!

Love Lana

[Guest guest]

Hi Betty,

I am sorry that the visit didn't answer as much as you wanted.

In terms of insurance, and your parents, it might be better to not have them

tested but there are insurance companies that will insure them for term

policies where medical reports are not required. It's important to note

though that despite a diagnosis in them, to be that age and a vascular type

is rather unusual, so if there were no issues of a vascular nature before,

there may not be now - but in this age group many different things can

happen that are completely unrelated to EDS, so my question now is, are they

currently insured? The diagnosis of VEDS now can not change their

qualification for any current policies, but may influence a policy if they

were to be diagnosed today.

About your son, there is nothing concrete to know how this all happened.

It's possible that he had an aneurysm for some time and the opportunity for

the rupture happened at the time it did - the thing to know though is that

despite when it did happen, there is nothing you could have done to change

the occurrence, because biochemically it was going to happen anyway.

On the phone we discussed the fact that males often have occurrences before

females in terms of age, and I think this applies to your son. Lifestyle is

also important as is growth spurts. Betty, without a diagnosis of VEDS

before the rupture, there is no way anyone could have prevented this. It

simply isn't something that you check for regularly in the absence of family

history. Your VEDS may very well be a spontaneous mutation in your family

or it may not be the but the bottom line is that there is nothing anyone

could have done to know in advance, that this was going to happen. You

have given birth twice, in women with VEDS, this is a potentially

life-threatening situation where your uterus could have ruptured and you

could have bled to death - yet, you didn't. Your son picking up the

sledgehammer may have contributed to the rupture, but his weak vessels made

the environment right for this to happen to begin with. If it wasn't the

sledgehammer, it would have happened at some point, the weakness was already

there. It could have happened with no trauma at all, like in his sleep -

there's just no knowing and there is no way to ever determine this.

If this tear had been diagnosed though, the potential for life-saving

surgery may not have existed. If you look at Beth's husband on the list, he

made it to surgery but the surgeon described the artery as he was trying to

close it, like 'sewing two pieces of wet paper towel together' for every

suture he successfully placed, two fell apart. There was nothing to sew

together, the EDS affected tissue of the artery prevented this. In her son

however, he was far more fortunate - but by then, the VEDS diagnosis

was there and the surgeon had some opportunity to understand the situation.

When your son presented to the ER, the diagnosis and likely more

comprehensive tests were not ordered because it is not something that the ER

doctors consider in a child who presents with pain. If he were an adult,

they would have ordered a CT straight away but in someone who is young, they

automatically think muscular pain. It's just so unusual for a child to

present with an adult problem, so it's missed. It even happened in Beth's

son (I can describe what happened to a degree, I was with them in

the first ER when was diagnosed with muscle pain and almost released

until an x-ray showed what appeared to be at first glance, a partially

collapsed lung that was later determined to be an aneurysm that was about to

rupture, and did several hours later), he had a VEDS diagnosis, yet the

first hospital we were at denied the potential for anything serious - until

the geneticist became involved and explained it. Beth is an RN, yet she

still wasn't heard. She has since been heard though and now her two

children's charts are flagged and should they ever present to the ER with

symptoms that have no obvious reason, their care will be managed

differently - but again, it wasn't so in the beginning.

Doctors really have minimal education with EDS because they do not know what

it is when they see it often times. Because it's a syndrome, it presents

with different symptoms - nothing set in stone. So, if there isn't a

pattern where there is a facilitated diagnosis, the call is harder to make.

Even within the same family it's difficult to make the call, because within

a family and despite the same genetically proven mutation, the symptoms may

not present in the same way, or intensity - you can see that in yourself and

your son. You are right in arming yourself with the knowledge and taking

care of your own healthcare needs - it's best to be involved and be the one

who understands, so that you can be a participant and not just a patient.

See your specialists and have the potentials documented and create a plan

for events that you might need addressed should you require urgent care.

Regularly, you should have an echocardiogram at least, but you might want to

have vascular ultrasounds, MRA's or CT's on a regular basis as well. If you

have no issues at the present time, then this is good news. However, it's

good to prevent issues then to work to get a hold of them when chaos strikes

if possible - and by establishing regular assessments and being familiar

with various services can help with a crisis does emerge.

Jill

[Guest guest]

Amen -------

Betty,

I just wanted to say that I feel like you are an incredibly brave and heroic

person. If I were in your shoes, I can't imagine that I would handle near as

well as you have. I'm sorry that I have no advice concerning routine tests and

all but I do just wanted to let you know how much I admire you. I know that

for yourself, you have days you probably feel anything but brave. That is

normal

but you have far more strength inside than you think! You are an inspiration

for many of us!

Hugs,

[Guest guest]

Good idea and MRA's do not hurt ---- ( tad noisier ---- but don't hurt ) lol- I

was so tired when they did mine, I slept thru it......... they transported me in

ambulance from one hospital to another and back again............ I still hate

that little dungeon feeling and did need an antivan of course- but as I said its

really not much different than an MRI......... except for the loudness

............

genetics visit

> Hi all

> Well my husband & I have just come from the genetecist and I have to say

I always seem to have more questions than there are answers. As most of you

are aware I have been diagnosed with VEDS. They did this testing after the

sudden death of our 13 year old son due to aortic rupture. They did DNA

testing on him and found the identical mutation. It doesn't sit very well

with me but I am starting to be a little more accepting of it. We found out

that any relatives ie. my parents should have blood work done.......of

course there is always a catch because the genetecist stated that there

could be problems with life insurance if they find the test to be positive.

My parents are both 74 and retired and have next to no money and they

already think I am rocking the boat by asking them to be tested, so I am

fearing that they will not want to do this. Some of you know the story

surrounding our son's death but for those who don't a very brief summary

is.......on May 24th of last year he was taken to the ER with severe chest

pain & jaw pain. He was at the driving range with his Dad & brother when he

started complaing. (he had the previous day done some hard phsyical work

using a seldgehammer to tear down an old treehouse). Anyway at the ER there

was an EKG, heart tracings, chest xray, bloodwork & a urine test done. The

only test that showed something was the urine test which we were to repeat

later that week. His pain went away and he was sent home. We did the urine

test on the following Thursday and the family doc called on the Friday

saying he needs to see him so I wanted to come in that day but the

receptionist didn't have any appointments so we made it for Monday.......he

never made it. On that Friday night he complained of a severe headache and

died in my arms a few minutes later. So now we are left with

questions.......yes we have a diagnosis but today the genetecist thought

that his pain from 6 days before his death was the tear in his aorta

starting however the ER doc said after his death that if it started to tear

it would have continued right away. Who is right...How come they can't get

their shit together??? So now my husband & I are left thinking ........could

this have been prevented. Why the hell aren't these docotrs educated about

this dreaded syndrome??? I realize now that my health care is going to be

left up to me. I asked the genetecist about seeing a vascular doc, about

regular testing i.e. echo, CT, MRI. He replied certainly you can do that if

you want. Basically he has done his part and now I have to look after

myself. Are there any suggestions out there from VEDS people about tests to

have on a regular basis?? I do not have any medical issues at the moment.

And for those who know about my recent MRI the genetecist didn't see

anything that would indicate a relation between that &VEDS, however my trust

level isn't to high at the moment with the medical field.

> Thanks for listening to my complaining but right now I have a real bitch

on for the world it seems, but as always I can come here & complain.

> Thanks again

> Betty

>

>

[Guest guest]

Good idea and MRA's do not hurt ---- ( tad noisier ---- but don't hurt ) lol- I

was so tired when they did mine, I slept thru it......... they transported me in

ambulance from one hospital to another and back again............ I still hate

that little dungeon feeling and did need an antivan of course- but as I said its

really not much different than an MRI......... except for the loudness

............

genetics visit

> Hi all

> Well my husband & I have just come from the genetecist and I have to say

I always seem to have more questions than there are answers. As most of you

are aware I have been diagnosed with VEDS. They did this testing after the

sudden death of our 13 year old son due to aortic rupture. They did DNA

testing on him and found the identical mutation. It doesn't sit very well

with me but I am starting to be a little more accepting of it. We found out

that any relatives ie. my parents should have blood work done.......of

course there is always a catch because the genetecist stated that there

could be problems with life insurance if they find the test to be positive.

My parents are both 74 and retired and have next to no money and they

already think I am rocking the boat by asking them to be tested, so I am

fearing that they will not want to do this. Some of you know the story

surrounding our son's death but for those who don't a very brief summary

is.......on May 24th of last year he was taken to the ER with severe chest

pain & jaw pain. He was at the driving range with his Dad & brother when he

started complaing. (he had the previous day done some hard phsyical work

using a seldgehammer to tear down an old treehouse). Anyway at the ER there

was an EKG, heart tracings, chest xray, bloodwork & a urine test done. The

only test that showed something was the urine test which we were to repeat

later that week. His pain went away and he was sent home. We did the urine

test on the following Thursday and the family doc called on the Friday

saying he needs to see him so I wanted to come in that day but the

receptionist didn't have any appointments so we made it for Monday.......he

never made it. On that Friday night he complained of a severe headache and

died in my arms a few minutes later. So now we are left with

questions.......yes we have a diagnosis but today the genetecist thought

that his pain from 6 days before his death was the tear in his aorta

starting however the ER doc said after his death that if it started to tear

it would have continued right away. Who is right...How come they can't get

their shit together??? So now my husband & I are left thinking ........could

this have been prevented. Why the hell aren't these docotrs educated about

this dreaded syndrome??? I realize now that my health care is going to be

left up to me. I asked the genetecist about seeing a vascular doc, about

regular testing i.e. echo, CT, MRI. He replied certainly you can do that if

you want. Basically he has done his part and now I have to look after

myself. Are there any suggestions out there from VEDS people about tests to

have on a regular basis?? I do not have any medical issues at the moment.

And for those who know about my recent MRI the genetecist didn't see

anything that would indicate a relation between that &VEDS, however my trust

level isn't to high at the moment with the medical field.

> Thanks for listening to my complaining but right now I have a real bitch

on for the world it seems, but as always I can come here & complain.

> Thanks again

> Betty

>

>

[Guest guest]

Betty --

I wish you could have gotten more answers from the geneticist, but I have found

that even from the " experts " there aren't many answers. The events surrounding

Danny's passing are so very tragic - but, at that time, no one knew about the

VEDS (including you and your husband) and so they didn't look.

And, unfortunately, your health care is going to be left up to you --- because

they do not know what to do. Yes, a vascular surgeon is definitely in order

and, maybe, even a cardiologist. At the very least, yearly CT's or MRI's and

probably echo's should be done for screening -- and if you have problems, every

6 months would be good. You will probably have to tell them this is what you

want and why. In one article on VEDS it states that " the value of preventative

screenings is not proven to be beneficial " ---- well, I say it's not unproven

either so I prefer to go on the cautious side and get all the screening I can.

I guess I will not " go " quietly!!!!!

On a whole I have found that geneticists (at least here in Maine) are much more

concerned about the family members. I asked mine if there was anything I should

not do and he said --- don't lift anything, get a sit down job (so I can gain

all kinds of weight I guess!!), and stay quiet - no activities at all. He

admitted he didn't know anything about VEDS other than an article he had read

before I came in -- needless to say I see no need to go back to him!! But I

have found another one who is better - she at least tries to find info for me.

As far as your MRI -- was it reviewed by a vascular surgeon also? I'm sure

everything is fine but I would bring the film when seeing a vascular doctor -

just for info purposes.

Unfortunately, with VEDS you have to become your own advocate. If you don't

trust what one doctor is telling you, find another one (I told one GI doc that

he " didn't meet my standards for medical care " !!!!!) It took me a long time to

be able to do this -- I always thought doctors just knew all the right things

and you just had to ask (what an illusion!!).

Betty, never worry about complaining here - we all go thru these frustrating

times and it surely does help to be able to vent!!.

Hope all is well with you and your family -- will talk again soon.

Love, Patti

genetics visit

Thanks for listening to my complaining but right now I have a real bitch on

for the world it seems, but as always I can come here & complain.

Thanks again

Betty