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I have a rare condition. Anyone else have it or heard of it? PIOG

Posted by on Jan. 17, 2013 at 4:29 PM
  • 24 Replies

Yes I posted the same thing in 2 different groups but deleted it. No one was answering and I assume it is because of the big words and the lack of drama. I am going to try to look up the meanings to the words I think people may not know and provide links.

I was diagnosed with febrile seizures as a baby but then they said I had something called Dravet Syndrome when I got to be around 3 or 4. As time progressed and I got older they discovered that it wasn't Dravet Syndrome. It seemed to fall on the Spectrum of Progressive Myoclonic Epilepsy (like Dravet Syndrome) although it does not fit into the mold of just one disorder. I can walk, talk and I have had all my motor skills (except sometimes I studder and forget what I am going to say. My hand-eye coordination kind of sucks as well). I have myoclonic seizures that include not just a twitch or two but loss of use of that body part for anywhere from 3-20 minutes due to violent spasms and twitches. I also have at least one tonic-clonic seizure a month. It could me more or less. Most of the time its more.   I have been to at least 15 different doctors throughout my life and I have been on almost all the drugs they have out there. You name it, I have been on it and it probably doesn't work for me anymore. I had a seizure on Tuesday that landed me in the hospital and I was told that it is only going to get worse from here on in (I already knew that, but thanks for raining on my parade, doc).  Most people with a PME disorder don't live very long. I think there is one condidtion where people don't even live into their 20's. Unless they have something like "Baltic Myoclonus" (I think that might not be the name of it so that is what the quotes are for) which I have been told I do not have, although what ever I have is more closely related to that than anything else.  In recent years I have been noticing my problems have been getting worse. I went from being the little girl that skipped 3 grades because she was so smart to the woman who can barely form a sentence sometimes. I know what I want to say but I can't get the words out. It is interfering with work and life. My neurologist wants to change my meds (again). This time upping the dose on one and changing the other one completely. Not because of the problem with speech but because I have been having more frequent seizures of both types. It is becoming very hard to function in society with this disorder. I will walk down the street and fall because my legs began to twitch.  

I didn't add this before but as of now I am homebound until my neurologist tells me otherwise. No work, no driving, no nothing. I can't do anything. I can play with my dogs and go on the internet (but I can't watch videos)

The condition I have is very rare and I doubt anyone here has it or has even heard of it. But I see no harm in asking if anyone knows anyone with any of the PME disorders. 

by on Jan. 17, 2013 at 4:29 PM
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Replies (1-10):
Mrs.Kubalabuku
by Bronze Member on Jan. 17, 2013 at 4:30 PM

Never heard of it.  I wish you luck that they find something to help you someday.

I have thrombophilia.  Have you heard of that?

AliKatAK47
by on Jan. 17, 2013 at 4:32 PM

Weird enough,Yes. I learned about it in school as a reason not to take Hormonal BC.  I don't know exactly what it is but it has to do with blood clots, right? 

Quoting Mrs.Kubalabuku:

Never heard of it.  I wish you luck that they find something to help you someday.

I have thrombophilia.  Have you heard of that?


KedrynsMommie
by Member on Jan. 17, 2013 at 4:34 PM
Never heard of it, however i feel like i should do some research so i can monitor ds. Exdh and his dad have seizures (different triggers) and ds has been having a few, random mild ones so far..including febrile.


I wish you luck momma! Btw as far as rare conditions, ds (who is 2) has gastroparesis (not caused by diabetes)
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AliKatAK47
by on Jan. 17, 2013 at 4:38 PM

What kind of seizures does your son have (other than febrile)? Grand Mal (Tonic-Clonic) or another type. How old is he? 

Quoting KedrynsMommie:

Never heard of it, however i feel like i should do some research so i can monitor ds. Exdh and his dad have seizures (different triggers) and ds has been having a few, random mild ones so far..including febrile.


I wish you luck momma! Btw as far as rare conditions, ds (who is 2) has gastroparesis (not caused by diabetes)


Mrs.Kubalabuku
by Bronze Member on Jan. 17, 2013 at 4:38 PM

Yeah, my blood clots super fast.  When I'm pregnant I have to take blood thinners.  Most of the time I find it oddly useful.  Like, if I cut myself in the kitchen, I barely bleed!  The danger is as I get older I could have more stroke risks and such.


Quoting AliKatAK47:

Weird enough,Yes. I learned about it in school as a reason not to take Hormonal BC.  I don't know exactly what it is but it has to do with blood clots, right? 

Quoting Mrs.Kubalabuku:

Never heard of it.  I wish you luck that they find something to help you someday.

I have thrombophilia.  Have you heard of that?




AliKatAK47
by on Jan. 17, 2013 at 4:40 PM

Do they tell you to take asprin or something?  I am not sure but I think asprin is a blood thinner. 

Quoting Mrs.Kubalabuku:

Yeah, my blood clots super fast.  When I'm pregnant I have to take blood thinners.  Most of the time I find it oddly useful.  Like, if I cut myself in the kitchen, I barely bleed!  The danger is as I get older I could have more stroke risks and such.


Quoting AliKatAK47:

Weird enough,Yes. I learned about it in school as a reason not to take Hormonal BC.  I don't know exactly what it is but it has to do with blood clots, right? 

Quoting Mrs.Kubalabuku:

Never heard of it.  I wish you luck that they find something to help you someday.

I have thrombophilia.  Have you heard of that?





Mrs.Kubalabuku
by Bronze Member on Jan. 17, 2013 at 4:47 PM

Depends.  They measure my homocystien (sp?) levels to determine if I need one.  When I'm not pregnant, it is mostly a wait and see approach, b/c I'm overall healthy.  When I am pregnant, it could be baby aspirin up to warfarin.  Just depends on how bad off I get.  It doesn't affect my day to day too much, though I have trouble absorbing certain vitamins like folic acid and B vitamins.  So if I'm not watching to make sure I get enough I can get worn out.

For now, the docs just say it'll be more of a concern when I start to get older, and they monitor it.  I am allowing them to do tests and research on me, as some women with it haven't been able to carry a baby to term and I've had 2 so far.  I want to donate my body to science, but DH is against the idea.  lol


Quoting AliKatAK47:

Do they tell you to take asprin or something?  I am not sure but I think asprin is a blood thinner. 

Quoting Mrs.Kubalabuku:

Yeah, my blood clots super fast.  When I'm pregnant I have to take blood thinners.  Most of the time I find it oddly useful.  Like, if I cut myself in the kitchen, I barely bleed!  The danger is as I get older I could have more stroke risks and such.


Quoting AliKatAK47:

Weird enough,Yes. I learned about it in school as a reason not to take Hormonal BC.  I don't know exactly what it is but it has to do with blood clots, right? 

Quoting Mrs.Kubalabuku:

Never heard of it.  I wish you luck that they find something to help you someday.

I have thrombophilia.  Have you heard of that?







the.lilangel
by New Member on Jan. 17, 2013 at 4:48 PM

I have heard of it but don't know much about it. I came across it while doing some research a while ago when we thought my husband was having seizures. I didn't understand a lot of what I read lol.

TruthSeeker.
by Milami on Jan. 17, 2013 at 4:56 PM

 I'm sorry to hear you suffer with this disorder. Do you have trouble taking care of your children? Is it genetic? Do you worry about passing it to them?

KedrynsMommie
by Member on Jan. 17, 2013 at 4:58 PM
He is 2 1/2 mostly absence.. but after he started having febrile seizures (2 in the last 7-8 months) hes been having tonic clonic.. only a couple though.. his seizures are spread out enough that the neuro couldn't find anything :/


Quoting AliKatAK47:

What kind of seizures does your son have (other than febrile)? Grand Mal (Tonic-Clonic) or another type. How old is he? 

Quoting KedrynsMommie:

Never heard of it, however i feel like i should do some research so i can monitor ds. Exdh and his dad have seizures (different triggers) and ds has been having a few, random mild ones so far..including febrile.





I wish you luck momma! Btw as far as rare conditions, ds (who is 2) has gastroparesis (not caused by diabetes)



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