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Author Topic:   Is anyone familiar with Hereditary Angioedema ?
Lexxigramer
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posted December 10, 2016 02:32 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
Yes, I have an extraordinary long list of ills I am afflicted with.
http://www.linda-goodman.com/ubb/Forum3/HTML/003511.html

However;
as with yesterday; for several hours;
going to the doctor and then the ER;
with an attack of Hereditary Angioedema; as I do a few times a year, and have the attacks approximately every two weeks. Usually not so bad that I feel the need to go to a doctor and ER.
It is always bed bound disabling pain but not always screaming agony.

quote:
Hereditary Angioedema
(HAE) is a very rare and potentially life-threatening genetic condition that occurs in about 1 in 10,000 to 1 in 50,000 people. HAE symptoms include episodes of edema (swelling) in various body parts including the hands, feet, face and airway.
In addition, patients often have bouts of excruciating abdominal pain, nausea and vomiting that is caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can lead to death by asphyxiation.

quote:
Skin
Swelling involving the feet and hands is uncomfortable, can be extremely painful, and often prevents patients from being able to participate in normal daily activities.

Abdomen
Gastrointestinal attacks are characterized by excruciating abdominal pain, nausea, vomiting, and diarrhea caused by swelling in the intestinal wall. These symptoms are distinguishing features of Hereditary Angioedema (HAE) because abdominal pain is rarely seen in other types of angioedema.
Hypovolemia (an abnormal decrease in blood volume) can occur from a combination of fluid loss, plasma extravasation, and vasodilation, and can progress into hypovolemic shock.


And here why they diagnosed gallbladder attack as they always misdiagnosed for decades. I am so tired of going to the ER when they are idiots.
quote:

Historically, approximately one third of patients with undiagnosed Hereditary Angioedema (HAE) have unnecessary surgery during abdominal attacks because the symptoms mimic a surgical emergency.

because the symptoms mimic surgical emergency
Hence yet another order to have surgery.
Add in that surgery itself will worsen the HAE attacks and or cause them.
Note:
The type I have is so rare that:
quote:
HAE with Normal C1 Inhibition
Several investigators have noted a familial (and therefore inherited) angioedema in patients with normal levels of C1-inhibitor. Now found under the designation of “HAE with Normal C1 Inhibitor”, this form of angioedema is yet to be fully understood.

note:
this form of angioedema is yet to be fully understood.

So more problems and misdiagnosis and improper and or lack of treatments prevail.
My abdomen can swell up to 22 inches larger within seconds!
The pain is horrific to say the least.

If anyone is familiar with
Hereditary Angioedema
Please let me know how you handle it and so forth.

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mirage29
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posted December 10, 2016 02:41 PM     Click Here to See the Profile for mirage29     Edit/Delete Message   Reply w/Quote
{{{ }}}

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Lexxigramer
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posted December 10, 2016 04:07 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
Thank you mirage29.
I found a cite that lists this very rare disease!
Orphanet http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100054

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mirage29
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posted December 10, 2016 04:24 PM     Click Here to See the Profile for mirage29     Edit/Delete Message   Reply w/Quote
Soooo Cool to find those sites.

Why don't you contact each one and tell them that you have this diagnosis?

Maybe you'll get some advocacy persons involved in your own case if you reach out to them?

Could give you power of validation, and maybe treatment options as well, to get the kind of extra help you need.

A bonus for them is that you have an extensive medical background (tests and measurements). It would ADD to their own research if you did!

They are coming out with genetic medicines now, where they can actually 'correct' offensive DNA. Maybe they would invite you to participate in some non-harming studies?

Cool ~gurl!!!

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mirage29
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posted December 10, 2016 04:29 PM     Click Here to See the Profile for mirage29     Edit/Delete Message   Reply w/Quote
Include these people too! Contact them?

quote:
from your other thread topic above:

Hence my problem. No one is treating it correctly despite a formal diagnosis of HAE clearly in my medical records!
http://www.haea.org/what-is-hae/
http://www.haea.org/what-is-hae/symptoms/


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Lexxigramer
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posted December 10, 2016 09:36 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
Yes;
I have contacted them and other related groups many times.
If I lived in the
UK or California. or even Virginia;
I might be able to get help.
The problem with type 3 HAE is that no tests can prove it.:
Other types, 1 and 2; do have tests of the missing C1 inhibiter.
I have type 3.
quote:
HAE with Normal C1 Inhibition
Several investigators have noted a familial (and therefore inherited) angioedema in patients with normal levels of C1-inhibitor. Now found under the designation of “HAE with Normal C1 Inhibitor”, this form of angioedema is yet to be fully understood.


So here I am in rare disease limbo.

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mirage29
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posted December 10, 2016 10:13 PM     Click Here to See the Profile for mirage29     Edit/Delete Message   Reply w/Quote
How about--
Getting a voucher, and moving out to Virginia?

Patch Adams has a group out there too...?
It was called, Gesundheit?

Maybe they have referrals. Certainly, they are well-connected medically and internationally?

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Lexxigramer
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posted December 10, 2016 10:19 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
quote:
In HAE type III, infusion of C1-INH has proven to be ineffective.

quote:
For prophylaxis, attenuated androgens are currently the initial mode of treatment. Therapy should be minimized, balancing disease severity with minimizing adverse effects. The drug most commonly used is danazol, but all attenuated androgens are useful in treatment.

Yes, decdes ago this treatment worked well enough.
However doctors do not like using it because it causes side effects such as virilization in females.
I do not care, as I was/am already virilized due to inter sexuality since birth.
A beard etc. does not bother me.
Yet no current doctor I have gone to will prescribe it; and my old doctor has died.
quote:
C1-INH concentrates have become available for prophylaxis and treatment of acute attacks.
Not effective for my HAE type 3.
I will keep trying to find help.
Someone has got to be able to help.
Here are other possible treatments;
if i can get them.I do not know whether they treat HAE type 3.http://www.haea.org/list-fda-approved-treatments/

HAE type 3 is very difficult to get tested for and treatment for it.

quote:
Diagnosis

Up to now the clinical diagnosis of "hereditary angioedema with normal C1 inhibitor" has required that patients have the above-mentioned clinical symptoms, one or more family members also affected with these symptoms, the exclusion of familial and hereditary chronic urticaria with urticaria-associated angioedema, and normal C1-INH activity and protein in plasma. The diagnosis "hereditary angioedema with coagulation factor XII gene mutation" (HAE-FXII) requires the corresponding demonstration of the mutation. Until now there is no further laboratory test which could confirm the diagnosis "HAE type III".

The question whether there are sporadic, non-familial cases cannot be answered satisfyingly today. Sporadic cases of HAE-FXII with no mutations in the FXII gene in the close relatives have not been reported until now. To identify sporadic cases of HAE-unknown is not possible at present since there are no laboratory tests available to confirm the diagnosis of this subtype of HAE III


quote:
patients with HAE type III did not respond to corticosteroids and antihistamines.

That upsets me terribly because idiots at the ER and doctors in general, keep giving me the corticosteroids and antihistamines by injection and as the facts state;
these are totally ineffective for treating HAE type3.
My HAE type 3 WAS BEING MANAGED for over a decade!
Then my doctors retired and or died.
The following is what I need and is almost a cure!
But none of the doctors since 1986 will bother to do the following effective treatment for me.
quote:
One woman with HAE-FXII received danazol (200 mg), an attenuated androgen, daily for 12 years . While on treatment, she was symptom free. During these 12 years, she discontinued danazol twice. Each cessation of treatment was followed by a series of severe abdominal attacks, tongue swellings, and skin swellings, and each time the patient resumed treatment. To date, the patient has had no side effects from danazol treatment. A second patient who received danazol (100 mg) daily for 6 years for severe HAE symptoms was also free of symptoms during treatment. The dose was subsequently tapered and discontinued; during the 2 years between discontinuation and the present, no HAE symptoms were observed.
Other studies have also shown an improvement in symptoms in patients with HAE type III during treatment with danazol.

I am going to try and get my new doctor to listen to me and try the treatment that worked for me for a decade or so.
This is so frustrating.

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Lexxigramer
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posted December 10, 2016 10:20 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
quote:
Originally posted by mirage29:
How about--
Getting a voucher, and moving out to Virginia?

Patch Adams has a group out there too...?
It was called, Gesundheit?

Maybe they have referrals. Certainly, they are well-connected medically and internationally?


I will look into that, but I doubt that it is possible.

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mirage29
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posted December 10, 2016 10:33 PM     Click Here to See the Profile for mirage29     Edit/Delete Message   Reply w/Quote
If you're eligible in that state for disability, then I believe you can get a voucher.... It would be to enable you to get treatment you need. I think the govt is amenable to that.

If you qualify for housing where you are, they would voucher-transfer it??? (I'm hazy on the details, but I had looked into that for myself a few years ago.)

Wishing you the best on finding that out.
Have a great weekend.

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Lexxigramer
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posted December 10, 2016 10:40 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
Thank you muchly mirage29

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mirage29
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posted December 13, 2016 08:35 PM     Click Here to See the Profile for mirage29     Edit/Delete Message   Reply w/Quote
There's a new medical field where they take a faulty gene (and whatever the DNA problem is), and are able to 'correct' it. They inject it back into the body, and somehow it replicates and the problem can resolve.

I know that sounds really sci-fi? They are making medical advances we are only getting glimpses of.

You are an excellent excellent researcher.

Just for dreaming big and out of the box... Look for where these types of research is being done, and what kind of genetic research would be close to those cells you are talking about. I wonder if this would fall under stem cells?


I saw an article they did on 60-minutes TV program where a doctor (in nation of Columbia) was working on gene therapy.

(Please note that I'm calling all this 'gene' therapy, or DNA or Stem cells... and that might NOT be what it's actually called, okay? But I think you know my drift? ...)


Look up Patch Adams things, and track what he's up to.

Did you ever watch the Patch Adams movie?
-- It might interest you.

http://en.wikipedia.org/wiki/Patch_Adams

His "hospital" is in WEST VIRGINIA, Lexxi!!
(Not Virginia, as I first mentioned.)

Check it out...
http://www.patchadams.org/

Patch Adams...
'Full Movie' (Robin Williams plays Patch).
{grainy} [1:35:48] http://www.youtube.com/watch?v=ZWhUHVNOSkc

This is a random video I found of him being interviewed...

(Wants the world to be Loving, and wanted to end Capitalism in medicine.. --)

Wants to start a Love Revolution....

(topic) Single Clip Interview of Patch Adams, 2011 [12:16] http://www.youtube.com/watch?v=FgKvGNsDZv4
http://www.astro.com/astro-databank/Adams,_Patch

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Lexxigramer
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posted December 13, 2016 09:25 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
Thank you muchly mirage29
I LOVED THE PATCH ADAMS MOVIE!
Will look at all your links ASAP.
Very exhausted since Thursday, 5 days of going to doctors and hospital and ER and more doctor/hospital tomorrow.
So bear with me.
Today Pain Management wanted me to have some procedures on/in my spinal nerves and so forth;
that could leave me paralyzed or kill me.
I refuse.
Ugh.
Nighty night!

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mirage29
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posted December 14, 2016 04:01 PM     Click Here to See the Profile for mirage29     Edit/Delete Message   Reply w/Quote
quote:
Originally posted by Lexxigramer:
Today Pain Management wanted me to have some procedures on/in my spinal nerves and so forth;
that could leave me paralyzed or kill me.
I refuse.

Wha??? Are you freakin' Kidding ME??? omg~~ *jawdrop*

Yeah girlfriend! Good for you!!!

Please, take your time responding...
It's okay to take a break when you need to!

Thinking of you...

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Lexxigramer
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posted December 14, 2016 05:13 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
quote:
Originally posted by mirage29:
Wha??? Are you freakin' Kidding ME??? omg~~ *jawdrop*

Yeah girlfriend! Good for you!!!

Please, take your time responding...
It's okay to take a break when you need to!

Thinking of you...


Yeppers.
Just like the jerk just this past Friday who gave me orders to see the surgeon to have emergency gallbladder surgery, when nothing was wrong with it;
he was just another jerk who was clueless about HAE III and this:
quote:
Historically, approximately one third of patients with undiagnosed Hereditary Angioedema (HAE) have unnecessary surgery during abdominal attacks because the symptoms mimic a surgical emergency.

Hence if I were not aware that I have HAE III; I would have had like
a dozen or more totally unnecessary dangerous abdominal surgeries by now!
Today I saw the ENT specialist.
Finally a sweet and well informed doctor!

Will tell you the rest of the hopefully good things and tests and another neurologist appointment for getting cat scans and MRIs and so forth; and all other/considered things and ordered after I rest.
There is still hope for me!
Thank you for caring! <3<3<3
Bye for now;
must rest, exhausted.


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mirage29
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posted December 15, 2016 11:11 PM     Click Here to See the Profile for mirage29     Edit/Delete Message   Reply w/Quote
Just words to mull and consider...

(topic) You: The Woman with the Broom (excerpt from the book "No Enemies Within," by Dawna Markova) [3:55] http://www.youtube.com/watch?v=pi6rQUNws3U

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Lexxigramer
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posted February 16, 2017 02:25 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
This states it very well.

I SUFFER FROM THIS 2 TO 3 TIMES A MONTH.
No doctors in my area know about it or how to treat it. They try to get a surgeon to cut me open when I go to the ER and they give me meds that I cannot take (refusing to tell me what they are putting in the IV, and later when I do find out, the damage from adverse reactions has already happened) and it makes things agonizingly far worse. It is a nightmare going to ignorant doctors who will not listen.

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Randall
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posted February 17, 2017 02:20 PM     Click Here to See the Profile for Randall     Edit/Delete Message   Reply w/Quote

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Lexxigramer
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posted February 17, 2017 05:32 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
Thank you Randall
Coming out of the 2nd. attack this month;
on top of my other continuous ills.
Sigh.....
These things hold too much sway over my quality of life and definitely almost totally puts a kibosh on my having a spontaneous social life.
I have met several folks online who wanted to meet me and visit me. I had to of course refuse. A few actually decided I was an enemy because they each took it as extreme personal rejections.
Some even said they did not mind visiting me when I was bed bound or living betwixt toilet and bedroom. In my mind I was like seriously? I am feeling like I am dying and I am vomiting and crapping myself, and drooling etc., and you want to have happy chit chat, small talk and so forth? Seriously?
Even my son has disowned me because I did not travel some 24 hours round trip (for medical reasons I cannot fly, or travel very long, let along afford it financially)) to attend his wedding. He said pretty much that he wanted me there even if I had to be there in a hospital bed wheeled in. Well his wife and he left me totally off the wedding invitations and listed his stepmother, my evil first ex's wife, as HIS mother, not me.
People can be so selfish and not understanding when it comes to ills. They do not usually see one when things are at their worse and do not understand how one can be in severe agony from literally hour to hour.
I just get so damn exhausted and deeply discouraged and other people not understanding just makes it all feel like a worse hell.
OK rant over.

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Randall
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posted February 18, 2017 09:38 AM     Click Here to See the Profile for Randall     Edit/Delete Message   Reply w/Quote
Agreed. Very insensitive of them.

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mirage29
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posted February 18, 2017 06:57 PM     Click Here to See the Profile for mirage29     Edit/Delete Message   Reply w/Quote
Hi Lexx ... I read your latest.
What your son did to cross you off that wedding list? (I'm sooo sorry that happened.)
Can't believe he wouldn't fork up the funds to make sure you were there-- even by remote video telecast?!
Maybe he didn't know he could do that, too.

Hope your current attack abates sooner than later.

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Lexxigramer
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posted February 18, 2017 10:43 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
quote:
Originally posted by mirage29:
Hi Lexx ... I read your latest.
What your son did to cross you off that wedding list? (I'm sooo sorry that happened.)
Can't believe he wouldn't fork up the funds to make sure you were there-- even by remote video telecast?!
Maybe he didn't know he could do that, too.

Hope your current attack abates sooner than later.


He did offer to fly me out but I could not even if it were paid for.
Also my condition often varies radically usually from hour to hour, so even if I could have gotten there;
the trip would have more than likely landed me in the hospital. Then the nightmare of the return trip. Simply not something I could do.
In fact I was vomiting, in torsion spasms partly blind, bed bound and more and in agony the day and actual moment of his wedding and for 2 days afterwards quite ill. Remote Video may not have been a viable option almost 2 decades ago. His wife looks down her rich girl Catholic/Jewish princess nose at me. Oh well, I am happy for him and wish him well and continued good fortune. His former Heroin addict father turned him away from me too. What can you do? That is just how it is.
If folks cannot understand, be they family or friends; then bye bye folks. I think part of it is he is in big I mean seriously big denial about my health issues and I know he ignores his own even though he had a heart attack at age 16 and other ills. As he gets older he may have to wake up and realize that there may be things that he may have inherited from me, and needs to know it is all real, if not for me, for himself and his child.
Please do not quote me on this post.
I might edit out the personal family information.
Please sewe my reply to Randall below as it answers ore of your post.

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Lexxigramer
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posted February 18, 2017 10:52 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
quote:
Originally posted by Randall:
Agreed. Very insensitive of them.
Definitely. I just take things moment by moment. This latest attack has been extra bad. I think its made worse from the adverse effects and damage from the crap they gave me in the ER without telling me what it was; which as I found out was 2 drugs that make the HAE worse and make attacks come more often, like up to months or more later, or permanently.
I talked to my neurologist about it and he said because of my huge list of ills, it would be too hard to sue for medical injury. All lawyers say pretty much the same. So yeah, side effects those drugs cause, I got it seems a few of them.....bad things, and hope they do not continue.
Spring is coming so maybe I can use my wheeled walker and get outside this year some.

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mirage29
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posted February 19, 2017 01:37 PM     Click Here to See the Profile for mirage29     Edit/Delete Message   Reply w/Quote
You are an incredibly capable, direct, and hands on person. A GOOD person.

This is like an impossible situation in that you HAVE an excellent mind and understanding (even medical amazing experience), and something 'should' have been done about it (practically and for really really REAL ~duh), but, no budging (by them) is available. And they KNOW, and don't DO.

If I were in your shoes, I would 'sense' that they KNOW you are Right. And that might be the only vindication you will have in this situation... that they 'recognize' that you ARE right.
... And that, for your own Peace of Mind, you may have to accept the Rightness (of you), and drop and Accept that (for now) that's the way things are going (it seems).
... But don't give up Hope. Sometimes things ARE happening in the backgrounds of our lives that is impossible for us to see.

Keep the faith that Possibilities are still stirring around that stew-kettle of Life.

As for your son, and the wife. *rollseyes*
(I'm sorry. I am human, and I can have my gentle-mild scarcastic moments TOO! LOL)

It is frustrating to be IN the position you are in, to BE understanding, and to HAVE this unfair situation! It's unfair. It's NOT fair.

And you Understand it all, wonderfully. You COPE the BEST you know how. You see things with a clear and very mature mind. ... Your son cannot---- because he doesn't have the perspective and understanding-knowledge that Life Experience will teach him AFTERwards-only, when he himself perchance has the Moment to reflect on his life.

And it's OKAY to do what others might view as just-complaining. It's NOT to be judged in that kind of way, ONE BIT!

You are a woman, a Loved Person here, who is going through something impossible and HARD, and you have THE RIGHT to be Heard.

I might be a total stranger to you.
You might even question why I would care.
BUT I DO. I DO Care about what's happening to you Lexx. I DO Feel how UNFAIR this all has been, that you are IN this position and situation, and you did NOTHING to DESERVE it!

Don't take your situation as being a punishment for something you did wrong. (I HATE it when people spiritualize-marginalize others by wagging their tongue and saying with a wrinkled nose--

*hrmmp* Weyallllll!, you must have done something 'wrong' and NOWWWW you are 'paying' for it. And!!! if it wasn't in this lifetime, then you're PAYING for SOME kind of past ~transgression???
SuchComplete freakin' Righteousbullcrappp!!!!!! LOL

That's from both the eastern AND western crap beliefBSsystems!!!!! *grin*

haha, I might sound like I'm ranting? No. Not at all. I feel gentle, and I feel sooo much innerPeace and Love, Lexxi!

AND.... Smiling, I DO see how you wrapped your post by including the wellness of how you are handling everything with such Grace.

Yes, a Walk in your chair... Out in the Beauty that is THERE for us to Behold... Coz it there are reminders, here and there, that Nature can provide us with nourishing for our soul and innersenses.

Have a Wonderful experience.

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Lexxigramer
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posted February 19, 2017 05:41 PM     Click Here to See the Profile for Lexxigramer     Edit/Delete Message   Reply w/Quote
Thank you for caring mirage29.
You said:
quote:

If I were in your shoes, I would 'sense' that they KNOW you are Right. And that might be the only vindication you will have in this situation... that they 'recognize' that you ARE right.
Oh they do know that I am right!
It drives them nutters!
quote:
accept the Rightness (of you), and drop and Accept that (for now) that's the way things are going (it seems).
I am my own best friend; the only person I totally trust and whose company I enjoy...and yes....I LOVE and LIKE ME!:
quote:
Don't take your situation as being a punishment for something you did wrong. (I HATE it when people spiritualize-marginalize others by wagging their tongue and saying with a wrinkled nose--
I do not believe that any of my misfortunes are some kind of punishment for any reason. It is as it is.
luck of the draw, random.

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