Monday, February 29, 2016



What is a Rare Disease? According to Wikipedia, just for an easy and quick definition, a rare disease is defined as the following:
A rare disease, also referred to as an orphan disease, which is any disease that affects a small percentage of the population.
There is no single, widely accepted definition for rare diseases. Some definitions rely solely on the number of people living with a disease, and other definitions include other factors, such as the existence of adequate treatments or the severity of the disease.

(The words in different colors are LINKS that take you elsewhere, but I have it set so a NEW window opens so you won't lose this post!)
In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically "any disease or condition that affects fewer than 200,000 people in the United States,"[2] or about 1 in 1,500 people. This definition is essentially like that of the Orphan Drug Act of 1983, a federal law that was written to encourage research into rare diseases and possible cures.

**MORE INFORMATION YOU NEED TO KNOW - (and this is ONLY to help because I could be completely wrong in telling you how this works because the last time I read this was a few years ago, so I could be wrong so please double-check this!) AS LONG AS YOU HAVE WORKED FOR THE LAST 10 YEARS, YOU CAN APPLY FOR SOCIAL SECURITY. STIFF PERSON SYNDROME, ALONG WITH 119 OTHER DISEASES, AND THERE COULD BE "MORE" THAN 119 OTHER DISEASES RIGHT NOW ARE CALLED "FAST-TRACKED ILLNESSES". What that means is you do NOT have to wait the usual amount of time that is normally required to get Social Security. Of course you need an attorney to get you through the ropes of SS, but you should start receiving benefits ASAP! There is NO waiting period! Excellent, huh! FINALLY, THE GOVERNMENT HAS REALIZED THERE ARE DISEASES OUT THERE THAT CANNOT WAIT TO BE TREATED, AND THOSE SPECIFIC DISEASES ARE ON THE FIRST PAGE OF THE SOCIAL SECURITY PAPERWORK!
MY STORY: To read my story with Stiff Person Syndrome, go to the TAB up above that says, "About Me" and click on it! You can read all about me and what this disease does, and how "I" and my family lives with it, and how we have lived with it, and I have not yet added how we are going to live with it into the future. 
I just went to NORD and looked up Stiff Person Syndrome, and since the FIST TIME I looked it up there, they have added MORE illnesses that go along with it, and I have about DIED! I have that skin disease they talk about where your skin turns into white spots (you lose the melatonin in your skin) and it is VERY embarrassing! People look at you strangely and I had one Dentist who would NOT leave me alone about it! I wish I knew THEN what I know NOW! It is called Vitiligo and IS a part of SPS! I just about DIED when I saw that because if you only KNEW the NUMBER of Dermatologists we went to trying to find out WHAT this was! Here it is in black and white! WOW!!! Plus my fatigue - I am not making enough red blood cells and it's called Anemia. I need shots of Vitamin B-12 because I cannot absorb B-12 from my stomach! WOW! That explains why I have been coming up as Anemic on my blood tests! 
This goes to show you you NEED to read up about your rare diseases more often than what I have done! HERE ALL THOSE ANSWERS WERE! AMAZING!!!
Well, for the FUTURE, you know those those Tiny Houses? Yep! We want about a 500 to 550sq ft tiny house! Something SMALL! It would be EASY on me! It will force us to live with the BARE minimum so if either of us were to go, there is not much to get rid of! It would just make MY life so much EASIER!!! We would LOVE it! Required: Permanent Foundation. I know many people are building on trailers, but we want to hook into the city's sewer system! NO! We do NOT want a recyclable toilet! LOLOL!!!!! NO WAY!!!!!!!!! We want hot water showers for as LONG as they will last us!!! There are just some things we are NOT willing to give up! Besides, it hurts to much for me to ride as a passenger in a car/truck to pull a HOUSE behind us! I know here in Michigan we do not have ALL our bridges at 13'10", either. I've seen some bridges ONLY as tall at 11"! We would be majorly stuck!
I am just SO excited about living in a NEW house!!! We want KING size beds, the kind that recline, and the windows in the bedroom would be up high! No worries about privacy!

Why do “I” get excited about celebrating Rare Disease Day? Because I happen to have a rare disease called Stiff Person Syndrome. Only 1 in 1 MILLION people worldwide get this disease, which tells you how rare it is. If you would like to learn more about this rare disease I live with EVERY day, then click on the Tab titled, "About Me". You will learn more than what you probably want to even know about me! LOL! (Time to update it! I just realized it's 5yrs old!) Quickly, I fight muscle spasms in EVERY muscle of my body, ALL day, EVERY day. It is a very painful disease, as muscle spasms are extremely painful. I am not able to work because of it, and my life drastically changed on August 16th, 2004. Yes, I will ALWAYS remember that date! That was the date I landed IN BED in the fetal position riddled with muscle spasms. I had NO CLUE what was happening. I had had muscle spasms similar to these, but not as hard, long or as painful as these turned out to be. These were also the first ones that made it difficult to breathe because each time my chest moved to inhale air, it set off MORE spasms! Thankfully, I have since found my diagnosis, which is NOT EASY to do. It took me about 2-1/2 years to find the correct one, but once found, fit like a GLOVE! That was the hardest part, finding out what was wrong. I'm so sorry to tell you this, but this part can take YEARS! You can have doctors telling you you are crazy! Hang in there! Keep searching to find out what's wrong. Your body would NOT be doing what it is doing if nothing were wrong, so keep on searching! The name of YOUR disease IS OUT THERE, YOU JUST HAVEN'T FOUND IT YET! 
If you ever want to talk about the frustration of finding out what is wrong, the BEST thing that helped me was to find online support groups. Some people in those groups may even help you and steer you to different groups to join, too! They can be some of the MOST HELPFUL people there are out there! I wish you the BEST in your struggle! 
My struggle: I had been treating with a Rheumatologist, and when I asked her if I could go to a Neurologist for another opinion, and which only made sense according to what I had been finding in the research I was doing, the diagnosis she had given me of Osteoarthritis AND Sarcoidosis did NOT seem to fit, in my and my husband's opinion. It did NOT. It was NOT Osteoarthritis NOR Sarcoidosis!
When I first asked her, the Rheumatologist to go see a Neurologist, she was LIVID at me! She was so angry she was yelling at me and telling me that the Neurologist would ONLY tell me the SAME diagnosis' that she had already done, BUT, since I was demanding she do so, she would write the referral for me. That tipped me off, and for YOUR benefit, if that ever happens to you, PLEASE let it tip you off, too. SHE wanted ME to go see HER CO-WORKER DOCTOR! Ah, NO! I could see that turning out to becoming a nightmare FULL of wrong diagnosis' even MORE! SHE suggested the doctor I should go see out of anger, but I could just see the two of them getting together to prove ME wrong, that my GUT FEELING about the diagnosis' she gave me were wrong. I just had those feelings you CANNOT IGNORE COMING FROM YOUR GUT, ALMOST LIKE SOMEONE WHISPERING INTO YOUR EAR SAYING, "PLEASE DON'T GO THERE!" So, I thought better of her suggestion. Instead, I told her "I" would choose the doctor and call her office after I had an appointment date so they could write up the Referral because I knew of a very well known Neurological Center out of a very large hospital with a wonderful reputation. THAT SCARED THE HECK OUT OF HER! (I could see her getting together with the doctor SHE wanted me to see and they would talk about me and come to a diagnosis, HER ORIGINAL DIAGNOSIS, and I would be NO FURTHER AHEAD!!! NO!!!!!!!!!!!!!! I COULD NOT LIVE WITH the thought of that.
If this EVER happens to you, you know that voice that has been going off inside your head that's been guiding you all along so far, or, call it your gut feeling, or your intuition, it's ALL the same thing! That is a warning between your head and your body trying to tell you that something is not right. There IS a Board of doctors, their own peers, who work in the same field, and your treating physician who is WRONG, who has been treating you the wrong way for YEARS is RESPONSIBLE FOR YOUR HEALTH, THEY would have to stand in front of them and plead their case and could possibly LOSE THEIR MEDICAL LICENSE! You can take it further if you have gone through something like I did. iT'S WRONG when doctors hold us back from being able to get the CORRECT treatment and had us on the WRONG medications, etc.!
In my case, the doctor was not right, just like I thought! I DID listen to that little voice that kept going off in my head telling me the doctors I HAD were SO WRONG, it was the medications that were SO WRONG! SCARY!! I was on medications I had no REASON to be on, etc., etc.! The Neurologist got me OFF the wrong medications and onto the correct medications, and finally I could at LEAST get a little more relief from the muscle spasms. That medication only lasts 4 hours, and it doesn't always work, but, what I was taking only lasted every 2 hours, IF that, plus all the other wrong medications that left my immune system at risk. I AM trepedacious of doctors now after that! You won't catch me going to any different doctors than the ones I have now, or if I do, I make SURE by drilling the girls who work in the office how open minded the doctor is, does the doctor step outside of their box in thinking about diagnosis'? "That" right there tell me so MUCH about a doctor! IF they are willing to get OUT of their textbook and consider other things INSTEAD of the "same ole, same ole" diseases that walk through their door.
Looking back I should have taken it further, but I did not know that back then.
I say that because EVERY doctor I have EVER gone to NOW has NEVER KNOWN what Stiff Person Syndrome is. Imagine yourself sitting there waiting for your doctor, the doctor coming in the room (finally! After waiting an HOUR inside that 4x4 BOILING HOT ROOM!!!) They immediately excuse themselves and (I have HEARD the doctors say this!) ask their nurses, nurse assistant's, and other doctors if they have EVER heard of SPS, and the answer if NO! They have to go to the INTERNET and look it up!!! That is not really a doctor you want to have! If you can educate them and they DO understand the illness, then they are okay to continue to go to, but ONLY IF they TRULY understand it.
Again, it's YOUR body! If something doesn't seem right, then do what you need to do for it! Get the correct diagnosis', the correct medications and off the wrong ones. Be with the doctors who are the pro's at dealing with your illness, etc. I don't wish what I/we (my husband went through all of this with me, too! He is a GEM!!!) have on ANYONE ELSE! Also, it doesn't matter HOW MAD ANY doctor gets at you, especially when it comes to trying to find out what is wrong with you and quite a few doctors DO have a hard time figuring out a diagnosis for you at times, but they MUST understand WHY you want to see other doctors. You NEED a CORRECT DIAGNOSIS! YOUR HEALTH IS ALL YOU HAVE, AND WITHOUT YOUR HEALTH, LIFE CAN BE SO DIFFICULT TO LIVE, and sometimes very dangerous, too. I am on medications for my rare disease, and it's STILL hard to breathe when the muscle are spasming! Imagine NO medication and trying to breathe!
I remember the FIRST SPECIALIST I saw! He knew IMMEDIATELY what I had! He BARELY asked me ANY questions! He could tell by seeing how I tried to walk, and I guess how my body looks, he could SEE the muscle spasms, and so much more! HE KNEW INSTANTLY!!! 
THAT IS THE DIFFERENCE OF A DOCTOR WHO IS A SPECIALIST (a neurologist I wanted to go to! Remember, I did NOT go to that first neurologist because he was friends with my treating doctor, and my treating doctor was LIVID at me for doubting HER diagnosis, but LOOK HOW WRONG SHE WAS!!!) and a different specialist who wanted to REFUSE me ANY further medical treatment! HOW WRONG!
ALWAYS go to the specialists you need! Don't allow doctors who are bullies to bully you around and NOT ALLOW YOU TO GO! RUN, RUN AWAY FROM THEM AS FAST AS YOU CAN! Those actions are telling you that NO, the DON'T KNOW what is wrong with you, and if you go to another doctor, "I" could get into trouble! Remember that, please!
One last thing. Treatment. If you do not agree with even a specialist's idea of treatment, that does NOT mean you need to have it done! Go with what YOU are comfortable! Don't allow them to bully you into treatment you are not so sure about! Go home, think about it, look it up online, go to the online support groups, you know what to do now! Go for it! I wish you the BEST in getting your rare disease diagnosis!

Find MORE information at Don't miss it AND FROM NORD! What is NORD? National Organization for Rare Diseases! A site that has EVERY rare disease and is SO helpful! They provide information about ALL the rare diseases for free online AND you can also request it from the mail, too!
Here is the link to the long list of rare diseases! I HOPE this helps you! NORD:

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