might be leaving list?????

[Guest guest]

What is Angelmans and what is syndrome?

My family in Canada (the line) named all their wierd problems the

syndrome many years ago-it was kind of a family joke. When I told

the doctor that he was surprized and thought I meant a real diagnosis which

I didn't even know there was a REAL syndrome. I've never been able

to know what the real thing is. S.

Re: might be leaving list?????

>

>

>,

>

>My 3 yr old daughter was tested for Angelman's twice; once by our

geneticist

>and again by Dr. Shoffner when we went to Atlanta last December. Both

times

>the tests were negative. Our geneticist and myself, thought Savannah match

>the symptoms of Angelman's and I'm assuming Dr. Shoffner as well, since he

>repeated the test. Dr. Shoffner diagnosed her with Complex I

>encephalomyopathy last April. She was also tested for Syndrome

and

>Ataxia Telangiectasia.

>

>What symptoms of Angelman's do you think sound like ? Hang in there,

I

>know how difficult it is waiting for an answer! Let me know how the

testing

>goes.

>

> Lipps, mom to 3

>, Mackenzie and Savannah (complex I encephalomyopathy)

>

>> The geneticist printed

>> out a list of things they haven't ruled out for me to take a look at.

>> Some of the things didn't sound like at all, but then I came

>> across Angelman's.......

>>

>> I was crying as I was reading, because it sounded sooooooooo much like

>> . I called the Dr's office and spoke with our genetic counsellor,

>> she agreed with me and they are going to run some more tests. If anyone

>> has any experience with Angelman's, please email me. I'll be around on

>> this list 'til we hear something.

>

>

>

>---------------------------

[Guest guest]

What is Angelmans and what is syndrome?

My family in Canada (the line) named all their wierd problems the

syndrome many years ago-it was kind of a family joke. When I told

the doctor that he was surprized and thought I meant a real diagnosis which

I didn't even know there was a REAL syndrome. I've never been able

to know what the real thing is. S.

Re: might be leaving list?????

>

>

>,

>

>My 3 yr old daughter was tested for Angelman's twice; once by our

geneticist

>and again by Dr. Shoffner when we went to Atlanta last December. Both

times

>the tests were negative. Our geneticist and myself, thought Savannah match

>the symptoms of Angelman's and I'm assuming Dr. Shoffner as well, since he

>repeated the test. Dr. Shoffner diagnosed her with Complex I

>encephalomyopathy last April. She was also tested for Syndrome

and

>Ataxia Telangiectasia.

>

>What symptoms of Angelman's do you think sound like ? Hang in there,

I

>know how difficult it is waiting for an answer! Let me know how the

testing

>goes.

>

> Lipps, mom to 3

>, Mackenzie and Savannah (complex I encephalomyopathy)

>

>> The geneticist printed

>> out a list of things they haven't ruled out for me to take a look at.

>> Some of the things didn't sound like at all, but then I came

>> across Angelman's.......

>>

>> I was crying as I was reading, because it sounded sooooooooo much like

>> . I called the Dr's office and spoke with our genetic counsellor,

>> she agreed with me and they are going to run some more tests. If anyone

>> has any experience with Angelman's, please email me. I'll be around on

>> this list 'til we hear something.

>

>

>

>---------------------------

[Guest guest]

, I'm not going to look into it further cause I don't think we have

that, I was just saying it's funny how so many symptoms fit so many people

and so many disorders have some symptoms in common.

Thank you tho. S.

Re: might be leaving list?????

>

>

>,

>

>I do understand what you are saying about Syndrome

>helping to explain your own symptoms. Unfortunately I don't

>know all that much about it, as it was only really suspected

>for about 24 hours! We did do the test, but weren't

>surprised when it came back negative. I'm sure there are

>some sites on the web you could check out!

>

> , Mom to Adelaine and Baby ?

>

>--

>The 's

>Ann Arbor, MI

>j-cooper@...

>http://www.mich.com/~jaj

>

>

>

>---------------------------

[Guest guest]

Hello everyone! Well, we MIGHT have some news soon...

had some more blood work done recently, and everything came back

normal. I think his plethora of docs are starting to move away from the

possible dx of some type of mito disease. They did a basic dna test when

we first started all of this, but it was normal. The geneticist printed

out a list of things they haven't ruled out for me to take a look at.

Some of the things didn't sound like at all, but then I came

across Angelman's.......

I was crying as I was reading, because it sounded sooooooooo much like

. I called the Dr's office and spoke with our genetic counsellor,

she agreed with me and they are going to run some more tests. If anyone

has any experience with Angelman's, please email me. I'll be around on

this list 'til we hear something.

Thanks,

[Guest guest]

,

There is an Angelman Support group, but I am not sure where I saw the link.

It is either on the Epilepsy Contact Data Base Site; The Epicentre or the

disAbilities links. Becuase my son has a seizure disorder I have visited them

all. Also check out the Epilepsy Foundation's Site because they have some

good links there also.

Laurel

[Guest guest]

,

There is an Angelman Support group, but I am not sure where I saw the link.

It is either on the Epilepsy Contact Data Base Site; The Epicentre or the

disAbilities links. Becuase my son has a seizure disorder I have visited them

all. Also check out the Epilepsy Foundation's Site because they have some

good links there also.

Laurel

[Guest guest]

,

I do understand what you are saying about Syndrome

helping to explain your own symptoms. Unfortunately I don't

know all that much about it, as it was only really suspected

for about 24 hours! We did do the test, but weren't

surprised when it came back negative. I'm sure there are

some sites on the web you could check out!

, Mom to Adelaine and Baby ?

--

The 's

Ann Arbor, MI

j-cooper@...

http://www.mich.com/~jaj

[Guest guest]

,

I do understand what you are saying about Syndrome

helping to explain your own symptoms. Unfortunately I don't

know all that much about it, as it was only really suspected

for about 24 hours! We did do the test, but weren't

surprised when it came back negative. I'm sure there are

some sites on the web you could check out!

, Mom to Adelaine and Baby ?

--

The 's

Ann Arbor, MI

j-cooper@...

http://www.mich.com/~jaj

[Guest guest]

,

I do understand what you are saying about Syndrome

helping to explain your own symptoms. Unfortunately I don't

know all that much about it, as it was only really suspected

for about 24 hours! We did do the test, but weren't

surprised when it came back negative. I'm sure there are

some sites on the web you could check out!

, Mom to Adelaine and Baby ?

--

The 's

Ann Arbor, MI

j-cooper@...

http://www.mich.com/~jaj

[Guest guest]

Kathy,

I just re-read your reply to my original post. In it you said that there

is a busy and active Angelman's list, where is it? I am having a really

hard time finding it, and started another one on onelist last night. No

one has subscribed yet, so if I can find the other, I'll hurry and

cancel mine.

Thanks a million.

Also, someone else had asked which of the symptoms sounded like .

Well, on the ASF site, the is a list that is broken down into 3 groups.

Everything in the 100% group applies, all but the microcephaly (he has

mAcro), and one other (I forget what all is listed) in the 80% group

applies, as well as various ones in the last group. We are just waiting

on some more test results.......

They are still checking out mito, also.....

[Guest guest]

Kathy,

I just re-read your reply to my original post. In it you said that there

is a busy and active Angelman's list, where is it? I am having a really

hard time finding it, and started another one on onelist last night. No

one has subscribed yet, so if I can find the other, I'll hurry and

cancel mine.

Thanks a million.

angelman-l@... is the list

from my sign on announcement:

BASIC INFORMATION

Management of this listserv is done via messages to the address

listserv@.... Relevant commands for general listserv management

To add yourself to the mailing list:

ADD angelman-l

(just put this in the text part of the message)

Also, someone else had asked which of the symptoms sounded like .

Well, on the ASF site, the is a list that is broken down into 3 groups.

Everything in the 100% group applies, all but the microcephaly (he has

mAcro), and one other (I forget what all is listed) in the 80% group

applies, as well as various ones in the last group. We are just waiting

on some more test results.......

They are still checking out mito, also.....

---------------------------