Do you feel Rare diseases get mainstreamed?

I don't fit in.. even when i'm with others disabled, i don't fit in....
I need wheelchair accessible housing.. not because i'm in a wheelchair, but to allow that safety zone around me so i can have involuntary tremor, and not hurt sometime, or get hurt myself. more importantly, so i can navigate my living environment, and feel it is safe and friendly to me...

i can't just be associated with the national federation for the blind, i'm hearing impaired as well...

everyone has a diagnosis, but not mine..

the first thing my doctor did, which is why hes still my doctor, he didn't take the diagnosis to literally.. you can't, its a rare disease... its not a perfect model whatever the title....

if you need wheelchair housing, your supposed to be in a wheelchair, well thanks,, i'm glad i'm not, though at its worse, i do need one, even walking is difficult..

how do you tell someone,,, you can't do something cause it will cause tremor, you pay a price, if you don't have tremor right then?

i say i go parkinsons, they say, oh, i know what that is, but if i say paraxysmal dystonia dyskinesia, all i get is blank stares...

other advocates tell me just keep helping us, your helping yourself,, and i agree for the most part, but sometimes i say, hey!!!!! you got what we were after, but i didn't cause i'm to different... did i get used?

and thats what i mean by streamlining.. they treat you as a square peg that goes in a sqaure hole, but that isn't what you are...

i do advocacy work at the state house.. and alot of the work is helpful to many people, including myself, but i constantly see how,, it doesn't fit people with rare diseases as nicely as they think it does... like my need to go to a speciality clinic in new york city. they were determined this condition could be diagnosed and treated right here in vermont... and the answer ended up being haldol. wow!!! thank goodness i got out of state...

and then the worse,, medicaid decided, that was to specializied a medical center and it was mandatory i go to mass. general in boston for treatment... there kind, understanding, but fully admit, that isn't where i should be for specialist, not there specialty.. but i have no choice,,, i have, no choice, vermont says, there special enough, the reality is, there a good buy for medicaid by contract for specialty services of diseases that can't be treated in state...

do you feel streamlined? sort of like,, twenty children in a class, and if five fail, thats okay, the majority passed... acceptable losses..

By tje
Posted April 6, 2009 at 9:39 pm
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I'm going to read more on this. I have just "skimmed" over this b/c I am so tired. What is the definite diagnosis? I have Epilepsy on top of the ovarian cancer (Primary Peritoneal Carcinoma) and have tremors that keep me from doing lots of things. Let me know the exact thing to look up and I'll get back with ya.
Jan

By Tevsmom
Posted April 7, 2009 at 12:34 pm
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I know how you feel about being limited as to where you can be treated. I am going through the same thing. My specialist is in Michigan, I am allowed 1 visit with him and all other tests and dr visits have to be where I live. My pcp is wonderful, but most of the drs around my area have no idea of what my dx is or how to treat it and so on. I don't fit any dx good enough, am told by many drs I have a rare disease, but they are unsure of what it is, because I don't fit into any one category. I'm the square peg being put into the round hole. If only the medicaid or insurance companies didn't have all the power, we all could be served better and go to the drs we really need to be seeing. Take care.

By djwaz184
Posted April 8, 2009 at 11:18 am
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My dx - primary peritoneal carcinoma PPC. It is considered rare. The type of cancer is psammocarcinoma - which is even more rare, especially given my age, even more rare. BUT the oncologist says it's treated like ovarian - made me feel like I didn't fit in. The information out there seems to indicate that fighting ovarian is hard and difficult with not much success. The information on PPC is extremely limited and what is out there, doesn't fit either.

The insurance company said that since there was no defined treatment, that my chemotherapy wouldn't be covered. Well, it's rare, so they have not had the opportunity to establish any protocols. Again, I did "fit". After letters and medical record transfers, the insurance company paid.

After only 6 treatments, I'm in remission. The doctors are baffled. My body didn't "fit" into the reactions that most have with chemo and my dx.

I don't fit profiles, I don't fit - period. Seems I've never fit any mold all my life. Oddly enough, I've always taken the path less explored and come out smelling like roses. I wish it were the case for many more. I am LUCKY!! I know, and in feeling lucky, I feel guilty because I've managed so well.

By luvwolvez
Posted April 8, 2009 at 12:25 pm
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Your whatever they call these thoughts ,dropped out of the sky, at the exact moment for me. I have 2 Primary Immunodeficiencies IgG (CVI) a name I hate. what is common about a rare disease it makes it sound easy. Managable! And I have Selective IgA which makes getting IVIG very difficult. And as you say these diseases can not yet be pinned down to one set of protocols.Things have SO changed since I was diagnosed 6 years ago but as the disease eats me up My immunologist lives in the past she never changes. What they taught back when, is what must be true today.
Thank God, and I mean God! I have wonderful MD's that walk around her. I hunt down what is being done they check it out and work around her. But I am tired of being the doctor, the teacher. Having doctors in the emergency room look at me like a deer that has just been struck by high beam lights.
Primary what? uh...............
Everywhere I go,people look and I can see the look in their eyes. Why is she here with all those bottles hanging from her poll she looks so healthy. Why is she allowed to live here in Senior housing she is not handicapped. She looks so well. They don't see the days and weeks when I am in so much pain etc. that I never leave the house.
But I don't want this to sound like I feel sorry for myself. I am more frustrated. Get the word out. Get us a Poster Lady and Man. What you see is not what they are feeling. should be the heading. It's a shell game,They never know how it might change or what they might find out this month.
AND THERE OUGHT TO BE MORE THAN ONE IMMUNOLOGIST IN THIS STATE OF SOME OF THE FINEST UNIVERSITY'S THAT EVEN KNOW WHAT I AM TALKING ABOUT WHEN I CALL TO SEE IF THEY WILL TREAT ME.
Sorry I just get so angry about that numb headed doctor.
I am going to put the front page of this wonderful site on the bulletin board at the infusion center I know there are 11 people with P.I.'s that get infused there.
maybe Rare Disease's information is our job to disseminate.
God Bless you
Louise

By princessde42
Posted April 9, 2009 at 8:04 am
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I have struggled with having a Archnoid Cyct(which is a tumor on my brain cell) for 2 years now. Yes, there is a name for it but no neurologist who know how to treat this. So I know how it feels to have your mind and body falling apart and to receive no treatment. I suffer migraine headaches almost daily, it's hard to get up in the mornings due to the pain in my feet, hands, and back. I lived on narcotics for the first year because that is all the doctors knew what to do. Finally got sick of popping pills and learned that the mind has a lot of control of your body and deal with the pain. I live in Florida and have walked out of many dx appts. because they didn't have a clue what to say to me. I'm an advocate for the children with AC because at my age I have decided to live with it. However, I do fight for the children. It is not a disease that is medically studied..imagine that..therefore it is not know how to treat...I wish all of you the best and send prayers out to all....

By shortstuff
Posted May 12, 2009 at 12:16 pm
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hey princess,
I have tsc which also has caused a tumor in my brain..I have been getting like throbbing sensations lately that dont last long.(weird huh) its benign tg. I guess when things go thru that I have a way to pay for treatment I will be goin to the cleve clinic unless there are specialists here idk about. Would there be anyone in ohio that might know of one or two?
btw what does ac stand for?

By artgarden
Posted May 17, 2009 at 10:55 pm
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I am sorry for your furustration. I just found out I have a very rare tumor that I am having trouble finding information on. I also have large sholders if you need to bitch a little . I will listen. Never give up hope. You are your best advocate. My parents treat drs. like they know it all and you just do what they say. I am trying to teach them, the Drs. work for you . If one is not a good fit keep looking. I hope you can find someone that does not make you feel like a guinua pig. I just try to find joy where I can, and pray a lot. I will pray for you if you want me to. Keep going.

By djmtard
Posted May 18, 2009 at 8:55 am
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YES!!! I feel like that alot! I have Central Pontine Myelinosis and because it was caused by Dr error I have all my Dr's on edge. You can read about my disease in "My Story". We are all lumped into one group. Although some of us have the same "type" of symtoms. Mine is MS like. So rare that they dont even have a prognosis for me!! Good luck to you. You are in my prayers!

By Ieva
Posted May 18, 2009 at 1:22 pm
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It took me a great deal of efforts to get my state diagnosed. Now I know, I have Cowden's disease, but I still has no code in disease classificator. And prior it my problems were explained, for example, as unfulfilled sexual lust and evil eye of some women dropped by my dad (who actually still is sexually attractive). My mother demanded me that I should become christian and undergo exorcism, because that was suggestion. I denied, because I had no interest in none of the local business projects called Christian denominations. Luckily, for her own peace of mind, she has forgoten evil eyes after positive PTEN mutation test. Now I am wondering (literally) from one doctor to another trying to organize my healthcare, since nobody (except me) knows anything about my disease and I hardly now anything about local healthcare....But after all it is my own body and I would hate to become fully dependant on my relatives....

By luvwolvez
Posted November 3, 2009 at 9:37 pm
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GOOD FOR YOU! You are doing a wonderful thing alking each day in such pain. God Bless you. We need to moblize get a poster that says something about rare diseases. Get someone famous to feel sorry for us. And get MD's to be willing to learn. I give out literature from NIH all the time I don't think the MD's read it but It is sitting there and someone will read it. I don't know how to ask to be a friend but I would like to support you and pray for you.Louise

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