I Have a Rare Disease

Personal Stories, Advice, and Support 48 People

    The doctors have diagnosed me with Spino

    Cerebellar Ataxia type 14. This means nothing. I don't trust the diagnosis. You see, I am 45 and have seen too many doctors for me to even remember or count. This last diagnosis was completed through a blood genetic test, the results contained a VUS or a variable of unknown...
    NMDewey NMDewey
    46-50, M
    1 Response Aug 24, 2015

    March 21, 2015 The dream I had last night was

    far too accurate a metaphor for my life than I'm comfortable dealing with. It was long and drawn out, with many different twists and turns, but the theme was the same throughout: autoimmune disease is always going to try to get the upper hand, but it cannot win. A preteen boy...
    ncbarr ncbarr
    31-35, F
    Mar 21, 2015

    I have bruises and needle marks all over my

    body. Everyday for 24 days I've had an injection in my stomach of blood thinners, I've had numerous blood tests, sometimes twice a day, and I've had numerous IV's and IV attempts. Luckily, I'm finally moving around enough that we don't have to worry about blood clots so I can...
    ncbarr ncbarr
    31-35, F
    Mar 8, 2015

    So I have a very specific problem

    that I can't go a day without thinking about. I have this disorder called episodic ataxia type 2, and if you haven't heard of it (which is likely) lemme tell you it's hell. I won't go on to describe the condition since it's the most inexplicable thing Ive ever had to describe...
    theskyisarainbow theskyisarainbow
    16-17, M
    Dec 11, 2014

    I Have Pseudo Bulbar Affect

    I laugh, cry, and talk in gibberish for no apparent reason.  I am not feeling the emotions that I am displaying at the time.  This is also called "emotional incontinence."  I also have trouble walking during this time.  It looks like somebody with Parkinsons.  One doctor...
    melissar521 melissar521
    41-45
    Aug 16, 2011

    It's hard to get used to having to choose

    between all the little things you do in a day that you take for granted. This morning I walked to the shower (behind the wheelchair) and stood for much of it, but because of that it took me longer to recover. I ate breakfast and put moisturizer on my legs and arms too. But I...
    ncbarr ncbarr
    31-35, F
    Mar 8, 2015

    I'M 1 In A Million

    So as I was growing up about the age of 3 my legs seemed bent inwards a bit and my parents were confused so they brought me to a doctor and the doctors kept saying there's nothing wrong with me but my parents knew the were soemegthing rong. I kept going to these different doctors...
    Cameygirl2122 Cameygirl2122
    16-17, F
    1 Response Jun 21, 2013

    I'm an Adult with Langerhans Cell Hystiocytosis.

    Even having this disease is rare. Being an Adult with it, and especially an adult who doesn't have the Pulmonary Type is more unusual. It makes it harder to find information about, and to find Doctors. I have actually been turned down by more than a few Specialists. I have to go...
    jinxybird jinxybird
    41-45
    Mar 8, 2014

    Hi, I'm 37 years old

    and was diagnosed with a very rare disrases. It is a real life changer, but after four years of doctors at least I have som answers. Unfortunatlely there is nothing that can be done. The journey ahead will be hard and life altering changes will occur, im scared.
    Jenholand Jenholand
    36-40, F
    Nov 21, 2015

    Genzyme Donates Over $100,000 To Support Patient Communities Working To Expand Awareness Of Rare Diseases Around The World

    Genzyme, a Sanofi company, today announced the recipients of the Genzyme Patient Advocacy Leadership (PAL) Awards. This global grant program supports outreach programs by non-profit organizations that work on behalf of patients living with lysosomal storage disorders (LSDs), a...
    RareDisease121 RareDisease121
    26-30
    1 Response Oct 5, 2012

    I Have Congenital Mirror Movements

    Congenital Mirror Movements (or CMM) is a disorder in which a certain protein isn't being made in the body, or not enough of it is being made. The body's nervous system crosses over from the left to the right (as in, the nerves that move signals to the left hands or left feet...
    Zumester3rd Zumester3rd
    13-15
    Feb 16, 2013

    Living With Cryoglobulinemia And Autoimmunie Diseases

    I have Cryoglobulinemia Vasculitis. I was diagnosed in 2010 although I believe I have been living with it for many years. I have had both kidney and heart failure and numerous blood transfusions due to severe anemia. This is a life threatening disease without a treatment or a...
    Mar 9, 2012

    I'm reluctant to talk about this,

    but I have Episodic Ataxia Type 2. It's an extremely rare migraine-type condition and very VERY hard to describe, but it's ruining my life. I get an episode almost every day. The condition had kept from doing the things I want to do. I'm even afraid to leave the house at all...
    theskyisarainbow theskyisarainbow
    16-17, M
    1 Response Feb 22, 2014

    Living With Cryoglobulinemia And Autoimmunie Diseases

    I have Cryoglobulinemia Vasculitis. I was diagnosed in 2010 although I believe I have been living with it for many years. I have had both kidney and heart failure and numerous blood transfusions due to severe anemia. This is a life threatening disease without a treatment or a...
    Mar 9, 2012

    Ever since I was 11, I struggled with

    depression, self hate, and a desire to disappear. It started on my butt, and because of it I couldn't walk for 4 days. I was almost expelled from school. I thought when my dad busted it for me, that that was that. But it spread to my armpits, groin, and underneath my breast. I...
    Kokoluvsu777 Kokoluvsu777
    18-21, F
    Nov 12, 2015

    Living With Cryoglobulinemia And Autoimmunie Diseases

    I have Cryoglobulinemia Vasculitis. I was diagnosed in 2010 although I believe I have been living with it for many years. I have had both kidney and heart failure and numerous blood transfusions due to severe anemia. This is a life threatening disease without a treatment or a...
    Mar 9, 2012

    Today started with a visit from the neurologist.

    He asked how I was feeling and what I was able to accomplish. He had obviously already read what the nurses wrote though, since he asked about my bowels (I had a not-so-fun time last night). He adjusted the medication again. I got to ask the questions that I had written down...
    ncbarr ncbarr
    31-35, F
    1 Response Mar 5, 2015

    Hyperlipoproteinemia

    My mum has a disease called 'Hyperlipoproteinemia' and is in and out of hospital most weeks. The professionals just dont seem to be doing anything about it. Was just interested to see if anyone else has the same condition and can offer any advice. Thanks.
    k8eccles k8eccles
    22-25
    Jun 2, 2011

    Satoyoshi Syndrome

    If you have read any of the literature on Satoyoshi "syndrome" you know that it is beyond rare with around 50 diagnoses worldwide since 1967.  As my title suggests, it took me 20 years to get an answer to what was happening to me.  When I was 5, I started Kindergarten...
    amwshorter amwshorter
    26-30, F
    2 Responses Mar 5, 2010

    March 9, 2015 The next person

    that tells me to be positive is going to get punched in the throat. Don't tell me how to deal with this if you've never been through it. I'm being very positive about my long-term recovery, but I'm somewhat realistic about what's going on right now. I can feel whatever I want...
    ncbarr ncbarr
    31-35, F
    Mar 11, 2015

    March 16, 2015 Today was my fourth day home.

    I had told myself and my family that I wanted three days to sleep and relax and just recover, and then I'd start working on getting stronger. So today I did just that. I started my day off with a bath, which actually takes far more effort than a healthy person can imagine...
    ncbarr ncbarr
    31-35, F
    Mar 16, 2015

    Do my eyes droop? Yes

    and no. Lately I haven't like many pictures of myself because I didn't think I looked very alive. Every now and again when I had my concrete leg days I'd take a picture of myself in bed. Usually I'd delete it because I looked so bad, but the common theme was more my jaw looked...
    ncbarr ncbarr
    31-35, F
    Mar 7, 2015

    Condrodysplasia Punctata

    My son has a very rare mild form of the condition Condrodysplasia Punctata! Anyone out there who also has this? Would be nice to talk to someone about it!
    Hend1 Hend1
    36-40
    1 Response Jun 25, 2013

    It's called transverse myelitis

    and it happened June 2011 and my husband left me because of it :(
    morgank204670 morgank204670
    26-30, F
    1 Response Feb 22, 2014

    I Think It Is A Rare Form Of Epilepsy? Any Ideas Very Welcome

    my adopted teenage girls are birth sisters with the same parents. they both have the same disorder which has yet to be diagnosed. So far they have had: MRI - head and back CAT - head Muscle biopsy Lumbar puncture Numerous blood tests EEG - both fitted for a weekend and the sleep...
    beaconbabe beaconbabe
    56-60, F
    Jul 25, 2013

    its with me daily has been

    since I was born - I am different because of it - no one can see it or notice it- its my invisible disease. I look healthy active happy and generally I am .It reminds me daily to be kind to all - I will have a shorter life because of it and my mind is ready and prepared. Rare...
    blonde10 blonde10
    36-40, F
    1 Response Feb 28, 2015
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