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National Organization Of Rare Diseases


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Well I had planned on writing this last week but have been playing catch up.

September 28th thru October 1st I was in Bethesda, Maryland for the National Organization for Rare Diseases (NORD) conference. The conference was well done with so many great guest speakers from the National Institute of Health, FDA, Genetic companies, etc. There was a mock Institutional review board (IRB.) They had doctor's come in and explain where they are going in research. The FDA and a pharmaceutical co talked about what it takes to produce a drug vs. an orphan drug.

The NIH has a department known as The NIH Road map and Translational Research; this is the department that helps with research for rare diseases.


OPASI - http://opasi.nih.gov/

The FDA has a department called the Critical Path Initiative; this is the dept that helps with Orphan drugs


Over 250 people were registered to attend this conference, doctor's, patients, different illness groups. There was a gentleman in the audience who was representing himself with Multiple System Atrophy. He made the comment that he felt like he was dying and it broke my heart when the next audience speaker stood up to tell her story and made a joke out of "we all feel like we're dying but that's not the case? Well I guess she didn't realize that MSA is Shy Drager and usually has the "7 year death sentence."

I spoke about Dysautonomia publicly and individually with many people and some doctor's. Most people I spoke with knew the term Familial Dysautonomia but was surprised to hear the term Dysautonomia standing by itself. One woman from an illness group minimized POTS as being a single symptom problem.

I personally find it amazing that there is suppose to be more than a million of us but yet I still have to explain Dysautonomia to everyone I meet, including my own doctor?s. The public isn?t familiar with the term. The American Autonomic Society says that there are 2-3 million of us now. Well if there are truly that many of us why haven?t we had any publicity yet and why isn?t Dysautonomia as common a word as Parkinson?s (inflicting 500,000 to 1.5 million in the US?) Or Multiple Sclerosis inflicting (400,000 people in the US?)

For all of you guys that have ever been completely frustrated by your own doctor?s

The last day of the conference I made a statement to the audience about rare illness, including Dysautonomia. It was a 3 part statement but the last part I would like to share with you guys because it seemed pretty powerful and had a very positive response from the audience. I said, ?there are thousands of people out there that struggle getting there symptoms treated and taken seriously by doctor?s, when the doc is fed up or doesn?t know what to do with a problem patient he immediately diagnoses them with Stress, Anxiety, Depression and sends them to see a shrink. The shrink sees the patient and determines that the patient needs to go back to the doctor and have their real medical problem treated. To this I say IF the rare illness community is really Depressed, Stressed or suffering from Anxiety; it isn?t just the illness that is causing this problem BUT it?s the doctor not listening to them and it?s not the rare illness patients that needs mental health evaluation but rather the Doctor?s themselves need a good shink! All the patients in the audience clapped and yelled when I said this very true statement.

On that note I have to say that personally I?ve been fortunate and have only been told by one doctor that I need a support group or chronic illness counseling, he was fed up with me. As angry as it made me at the time, I realized that instead of the doctor admitting his fallacies or short comings it was easier to pass me off rather than truly deal with my neurological issue. This kind of problem needs to be addressed around the world and the doctor?s need to be held responsible for mismanagement of multiple or difficult symptom patients. I would hope that people like Laura Hillenbrand would agree with me.

Laura?s story - http://www.cfids-cab.org/MESA/Hillenbrand.html

Or A mother who refused to give up on her daughter


Well this was a great conference I was overwhelmed with information. I know that the NORD is going to be posting all of the papers/information packets from speakers on their website in the coming days if anyone is interested.


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I wanted to thank you so much for the efforts you make to keep us 'in the loop' with what is going on research-wise, conference-wise, education and awareness-wise, etc.

I also want to commend you A WHOLE LOT for what you did--use your precious energy (I know you are sick and raising a big family!!) to take time to GIVE A VOICE TO DYSAUTONOMIA FOR ALL OF US.

It takes so much organization, courage, strenght, perserverence (and a whole lot more adjectives that just cannot come to me this early in the day, as I JUST woke up!) to do this work.

I really, really appreciate what you do. Thank you from the bottom of my heart for going to this conference and speaking for those of us, like me, who are too sick to leave myhouse!

Also, I remembered a long time ago you posting the GH article, but I often just don't get to read a lot of posts, and if they go up when I am 'out of it' they don't get read...that was one that I didn't really get to read, but rememberd you posting it.

It was soooo weird to go back and skim over it and see that in the end the girl was diagnosed with LYME!

This is what my POTS doctor and Lyme doctor think I have after EIGHT years of searching!!!!

You are right about persisting to find the right docs and the right diagnosis...I just kept looking until I found someone who would take me serioulsy and was willing to solve a 5000 piece puzzle! :ph34r: I know some people say, how many doctors is too many to see? Well, I guess my answer is, until you find one who's willing to work for you, you haven't seen too many. I would love to add up how many docs I've seen! It wouldbe a good laugh.

Thanks again Steph!!!! I really appreciate you and what you do!


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Emily thank you for taking the time to write out such a nice note. I really, truly appreciate it.

It was difficult going to Maryland. Plane travel always messes me up and it's an expense that I really can't afford because I'm still trying to raise my family and afford all of my medical.

The conferences were very long (but I'm not complaining because it was all good information.) It was so cold in the room that it made my joints 10x worse. The first day I was there I had already pre-arranged a meeting with Senator Wyden's office to discuss funding for research into Dysautonomia. But midway through the day all I wanted to do was call and cancel because I wasn't sure that I could physically stay awake and make it to his office. I had to MAKE myself just do it, even though I wanted to sleep so badly.

The second day I was there I probably left a good 20 mins before it was over because I was so exhausted all I could do was make it up to my room to crawl into bed to get warm and die. It was a huge disappointment because it was a Saturday night and I really wanted to go into DC and see some things. Sunday was a half day and it was even colder in the room so I had to occasionally stand up and pace around. The cold absolutely added to my exhaustion and would just suck the life out of me faster than it already goes.

I keep this in my mind though - When I was at my sickest with POTS and all I could do was lay in bed sleeping or staring at the walls; I kept swearing that if I ever got any energy back that I would devote it to being a speaker of this dang illness. I'm trying to stand by that and do what I can as an individual.

I?m grateful for my all of the doctor?s that have supported me, stuck by me and helped to find medications to improve my quality of life. Dr. Grubb was the number 1 guy for me and my doctor?s here in Oregon for following through with his care plan.

It frustrated me talking to people at this conference and they thought POTS was pretty simplistic with minimal symptoms. Why this illness hasn?t had more attention just blows my mind. Someone please explain it to me! If astronauts suffer from these symptoms after space travel and you can develop this illness from so many factors then how is it that the public doesn?t know about it. If there are really 2-3 million of us now, why isn?t this a common topic like MS, Parkinson?s, Lyme, etc?

It's kind of sad because as I was sitting in the conference, listening to so many different groups of people with rare illnesses; I kept thinking to myself if all 25 Million people with rare diseases stood together, what an awesome voice that would be. It would be nice to unite so many people to get something accomplished.

Thanks again for supporting me!

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Briar Rose

WOW! You flew across country to do this!? That is fantastic. But sorry it took the starch out of you.

The reason POTS doesn't get more attention is it isn't a formal death sentence. JUST a horrendous limited quality of life for many of us and some more than others.

I still wonder why it hastn' gotten more attention but few rare orphan illnesses do.

We were on DATELINE in 98 or 99 but no follow up. And the Dis Health Network had a segment on MVP Syndrome..other than that, nada.

Thanks for filling us in on the conference.

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The dateline in in the late 90's was on Chiari Syndrome and Dysauotomia. There hasn't ever been a show just on POTS any where. Hopefully we can change that someday, SOON :ph34r:

I feel that it's extremely important to tell the public about this illness because there has got to be thousands of people out there that are struggling with symptoms and not getting any help, information, diagnosis, etc. It would be great if our information aired and if just 1 person turned on a light bulb and said that's me, WOW. Would even be better if some doctor's were watching and said, oh I have patients like that, hmmm maybe that's what's wrong with them.

I feel for all of the people that are out there struggling, searching for answers.

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Thank you, Thank you, Thank you Steph!

I appreciate you made the trip, AND spoke your mind! My daughter would LOVE to do exactly what you are doing when she gets older.

I was wondering about your comments about all the rare disorders in the room, and IF there is anything they are doing/planning that brings "us" ALL together? Though I certainly wouldn't fault any group for wanting funding for their OWN research, I agree completely with what you said about the large number of people, and how LOUD they could be together, instead of apart.

Thanks again, it means a lot to us!

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I've thought a lot about this. I was making notes all the way home and have talked to a few people about some ideas.

What do we all have in common?

I think we all have a difficult time getting diagnosed, if at all. We have a difficult time getting treatment, medication; follow up care, research, knowledgeable doctors, etc.

So instead of thinking about which group of diagnosed patients are going to get what piece of the pie, doesn?t make sense to put it all together and make it for everyone??

Wouldn?t it be great if there was a facility somewhere, centrally located in the U.S. that provided care for tough to diagnosis patients. A place where you could go that had specialists (Neurologist, Cardiologist, Gastrointestinal, Rheumatology, Endocrinology, etc.) that worked together for these tough patients with multi-system, multi-problem situations. A facility that diagnosed you treated you, did research and continued to take on your care. Now I realize that the travel would be a problem but one thing at a time.

It would be so convenient if our doctor?s would work together and give us the best possible care and that would be best accomplished if they were putting their ideas together, instead of trying to figure it out singularly.

I heard what mother talk about who son?s brain tumor (I forget the name of the illness) but it?s tumors that form anywhere from the brain to the coccyx and over time the treatments can cause blindness, endocrine problems, etc. Yet another multi-system illness.

So instead of us each thinking about how we can use the money selfishly, we could probably accomplish great things putting all of the money together and treating everyone.

OK, so now that I?m done with my rant, who?s going to call The Bill Gates Foundation and pitch the idea??? :ph34r:

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I believe Mayo Clinic was originally designed to be the place to go for those with rare and unusual illness. Maybe their role has changed over the years?

Anyhow I just wanted to add my thanks for all your efforts,Emily put it so well.

Next time give me a call, I`ll go with you,I`m just over the border in BC!


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thanks for your efforts steph & for sharing your trip/experience with us. i have to say i'm a bit jealous as i would LOVE to be able to do more advocacy-wise and had planned on doing so professionally but physically simply am no longer able.


:rolleyes: melissa

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Thanks for advocating for us! There's no bones about it--------you get down there and do the work......

You have truly done a great service for all of us-------I don't know what to say------you give me hope.

I have met so many people through the last 5 years--and I'm not liking the stories I continue to hear about the never ending ignorance----even in places where you would think the ignorance would never exist------as I had to misfortune to find out.

Thanks again............. :rolleyes:


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You are partially right about Mayo but I'm saying it needs to be taken a step further.

Mayo Clinic has seen and diagnosed a lot of Dysautonomia patients, Dr. Low's work is well known. But it has also been my understanding from reading stories here that after diagnosis at Mayo most of these patients haven't been allowed ongoing follow-up.

It would be nice to have a place to go for diagnosis, research, ongoing treatment and further problem resolution; especially when you need a different specialist. It would be very beneficial if some these speciality doctor's start working hand in hand with each other to solve some problems.

Everyone, thank you for your kind & appreciative comments. I wish I could do more, be a louder voice and make a faster difference in everyones lives.

For those of you that wish you could do more but are too ill, just remember that I was like that for years and still have lapses. I've come a long ways and have at times almost given up, just hang in there and try to keep your head up, we're all in this together :rolleyes:

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Maxine is right about how you really walk the talk. Thanks. You really DO the work to advocate.

When I went back and looked at the GH article, I had to pass it on to my mom. She was absolutely fascinated by it. Thank you again! It was another testament to the fact that Lyme can do some crazy stuff to the body and we just might be doing the right thing!

Also, on our local NPR station I keep hearing about the national organization of rare diseases--I guess they provide funding?? Anyways, it makes me smile and think of you. They are mentioned in conjunction with the Medtronic foundation? Are the two connected? Anyways, it says how they are looking for answer for those with rare diseases. Yeah! (I'm an NPR junkie).

You are right about how it CAN happen that we come to a place that we can advocate. I know that we each do what we can in our own ways.

Like with Sunfish--I KNOW how much she wants to be 'out there' doing more, but I also know that EVERY little thing we do to raise awareness matters. I have to believe this to survive. Sunfish teaches so much to so many people here on this board by being a member and a moderator. And I think that's a way to change lives too.

Right now, the best I can do, also, is be here on this board. I also see how me being sick has changed my friends and family and people we meet. It makes them think twice about second guessing a sick person. It makes them see that this CAN happen to someone they love.

I somehow believe that the world is better for each action we take in this way. Like when Maxine talked to her legislators or when someone helps a person here or when you go to the conference or whatever--we do what we can with the physical abilities we have.

Thank you for being an advocate for those of us who are not in a position to do so. You are amazing!


P.S. I didn't touch on the issue of a more comprehensive diagnostice center, treatment center, etc. b/c I know I could get waaaay too passionate about it! Unfortunately, at the core, our entire healthcare system is in crisis and until we fix it, people with all conditions are paying a price. As are the doctors, nurses and other healthcare providers. It really scares me b/c I think we will have to reach an even worse crisis than we are in now before we do something as a country to fix it. We have the resources and the amazing things you can't get in other countries, but not the access, etc. BTW, there's going to a special on our NPR station on just this topic tomorrow eve!!!!!! :rolleyes:

Well, it's way past time for me to nap....gotta get to that!

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While I was trying to nap...notice the word 'trying'...grrrr...

I was thinkng about what you said about having one big organization working together...

I agree with both sides...

I think it is important to have larger groups b/c of the power in numbers...

But, I also think it is important for each illness to have an outlet. I can't imagine having done this all without DINET.

Unfortunately, what's so hard is that many of us are 1. soooo sick and 2. not financially able to help (people with disabilities are 50% more likely to live in poverty than those who are not disabled). Those challenges make it very difficult to get our word out in the ways we would like!

I think about Michelle, using soooo much of her time, energy and also her own money to run DINET. That is a huge sacrifice.

Now, if I would just win the Powerball lottery!!!!! Then, we'd be set to go!


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I just want to thank you so much for this post and being such a great advocate. I had so many emotions reading this. First, the comment about the person with MSA who spoke and said he felt like he was dying and was brushed off by another guest is beyond words. I was given this as a possible diagnosis at one point and still not sure that it isn't a possiblity- i can say that it was and is terrifying, as life expectancy is not high.

I am about to see another specialist next week, again looking for some clarification regarding diagnosis, sympotms and treatment and hopefully compassion. I have been able to make an apt. with a physician who is listed in the physician directory so I am hoping this will be a positive experience. I have been anxious about this apt. for fear that once again hearing the words -don't know, doesn't make sense, just go on with your life, etc. The anxiety does come from the physicians in many cases. Making you feel like this can't be real. I have long hx of CFS and remember exactly what that process was trying to get diagnosed.

Your post was inspiring to make me think clearly about what I want from this apt. and how I may state this. It is funny how your life changes so much when chronic illness has taken hold of your life. My job was to advocate for others for over 20 years, but during all this I feel like I have not been assertive enough in doing this for myself. I think it's just when you feel so ill and can't think clearly, it is most difficult.

Thanks again for all that you are doing while battling your own struggles.

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I haven't been posting very often, but I did just stop in to browse the forum quickly and found your post about going to Maryland to speak.

I just want to say that I am in awe of what your were able to do for yourself and for us as a group. Thank you for doing that. You suffered so much in doing this. I hope that your voice was heard and that it made a difference, no matter how big or small. You truly amaze me. Thank you. :)



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Sorry it's taken so long to respond. Days I work I usually don't have the time or energy to post.


I didn't mean to take away from these great forums at all. Each illness group needs to be able to speak to one another about their individual symptoms, medications, docs, etc. What I meant was that we all need to have a better medical network in place, from diagnosing to treating.

Your comment about many of us being on disability struck a note too. At the conference the doctor?s and some advocacy groups stood up and said you need to do more for yourself. Even though I had raised my hand to comment on that, they didn?t get to me. I wanted to say to that group that there are certain illnesses groups that can?t advocate for themselves like they need to, ours would be one of them.

I?ll have you know that after the first day of conference I went back to my room and during napping sessions I wrote out 3 pages of things I wanted to say to the audience and doctor?s. Obviously I didn?t have the opportunity to say all of the things that I wanted but I did say a few important things, every little bit helps.

I?m sorry I ruined your nap but I?m glad that I gave some people the opportunity to expand their thoughts on this.


It was so nice seeing your post; I really miss talking with you. Everyone has been so wonderful with the pats on the back, I feel bad about it. I wasn?t looking for any kudos, just wanted everyone to have the information. But the Kudos are a good feeling when I?m trying so hard to make a difference in whatever way I can.

I?ve spent the last 6 months talking with some of our local politicians, seems like a brick wall so far but I?ll keep chiseling away.

Take care and let?s talk soon please.


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