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Rare Disease Database???

Adwyer
2 Recommendations

It seems like many doctors and suffers need a centralized database of symptoms and corresponding disease culprits to help diagnose or at least narrow down the rare diseases. I have found several that are helpful for "normal" disease diagnosis (IE athletes foot , etc) but none specializing in rare diseases. Further, if several autoimmune diseases give very similar sets of symptoms a means to differentiate between the diseases with lab testing. I contacted the NORD genetic counselor, but am still looking for someone else to "bug" about this.

Explore topics in this discussion:

Cancer Autoimmune diseases Addison's disease Rare diseases Isaac's syndrome Chronic fatigue syndrome Fever

27 replies

SickOfBeingSick

Aleck,

I am a database administrator/systems programmer and administrator and I would be willing to do some architecture, programming, table set-up etc. on this if NORD wants to get in touch with me. As long as it isn't too time-intensive, I have limited spare time and energy for obvious reasons. I'm sure NORD already has some sort of database capabilities in place, I don't know what they are.

I have worked with just about every major database out there and the programming languages to write interfaces to them. Have the software at home to work with many programming languages and database types.

Cathy

SickOfBeingSick

Aleck,

You probably would get further discussing this with the NORD webmaster. That person would know more of what the technical capabilities are at NORD and what it would take to undertake such an endeavor.

Cathy

Adwyer

Hey that is great you have programming skills and thanks for volunteering them. I will try to contact the webmaster and see how he/she can help. I don't think the big task is going to be the database/programming part. It will be the thousands of diseases to enter and a lots of symptoms to enter. That is where we will need alot of help.
Aleck

SickOfBeingSick

Aleck wrote:

" I don't think the big task is going to be the database/programming part. It will be the thousands of diseases to enter and a lots of symptoms to enter. That is where we will need alot of help."

Sure, but you have to have a place to enter them into and a way to get them out or they get sucked into a big black hole. Also, the more user-friendly the interface is, the more people will use it and record in it.

That's where us database types come in useful ;) . We have a saying that it doesn't matter how much information you store in a database if you can't get it back out.

The webmaster won't be the end contact, but they should be able to put you in touch with the systems people who do this type of thing. Once it's a go from a systems standpoint, the other people at NORD, the various counselors, etc., can plan what they want to do.

If NORD doesn't want to host it, a domain only costs about $15 per year and with GoDaddy you get a free website (with ads) and a database server with that purchase. The programming and database tables themselves would be ours to take anywhere we want, we would own it.

Cathy

SickOfBeingSick

Aleck,

I imagine a first step would be talking to medical providers and undiagnosed patients to see what would help them the most. What would an ideal database "look like"? What information and search capabilities would it need? Here are things I can think of off the top of my head:

1. Symptoms
2. Tests
3. Exclusion criteria
4. Differential diagnoses
6. Links to websites with more detailed info
7. Treatments
8. Prognosis

I wonder if a "Wikipedia" type format would be useful? Anyone else want to chime in?

Cathy

UrsaBear

Wikipedia is not recommended for one reason--anybody can add material and it is not as well monitored as even government or non-profit organizations are.
I am a student at a California State University, entering my senior year, and if we ever used wikipedia, trust me, that would constitute an automatic "F." The professors wouldn't even look at the paper.
For accuracy and professionalism, always use a peer reveiwed, scholarly resource.
I would be happy to list any academic sites that are acceptable.

UrsaBear

Now as far as the format for Wikipedia, that is very 'user friendly.' But when it comes to the actual information you gather from it, it may serve as a good starting point, but that is as far as it goes.
Use sites like .gov, or .edu

SickOfBeingSick

Rita,

I wasn't planning on using the actual Wikipedia as a source of information. Just the format of it. The individuals writing the information would be doctors, health care professionals, researchers etc., that specialize in the various disorders. The Wiki format would just give them a standardized, easy to use format to write in. It would also allow other professionals an easy way to add material to an existing wiki. This would not exist on the actual Wikipedia, it would be our own creation, and of course we would have to call it something else.

The actual database entries would not come from the Wikipedia-style pages, but they would link to these pages for someone to read and get a broad overview.

Rita, you are probably not aware of my background since I haven't talked much about it here. I have four years of graduate school and began my career in a world-class, cutting-edge scientific research lab.

Then I switched to information technology. Much safer. No open fission-fragment sources, no sources of huge voltages of electricity shorting out right next to my arm, no extremely high uranium content rocks, etc., etc. I'm sure my children are glad I quit when I did.

I am easily able to separate out good research from bad. Still have mountains of research papers in my attic and bookshelves. Maybe I should build a fire some night.

Cathy

Earthling

I recently read a report (concerning cancer, actually) that laymen and medical personnel report things and see things differently... Medical personnel tend to go by "systems".. respiratory, GI, cardiac, etc. Perhaps you could break symptoms down by system (perhaps using a Merck Manual for guidance?), or a nursing assessment form.... symptoms down one side, and diseases or syndromes across the top? Would that be user-friendly for laymen? As a nurse I would find it
useful. Maybe have a place for abbreviations and medical terms? I think it's wonderful that someone with programming knowledge is willing to work on it.. it was a great idea!

Earthling

Forgot to mention, Molly on the Isaac's Syndrome site has put together data from those member's symptoms on a spread sheet. Her email is on the site.

Adwyer

Thanks for your input. We are still at the design stage and I have contacted Inspire.com for help in this area. They seemed very interested in getting this project going. Once we get a data entered we will have the members go and check the accuracy.
Thanks,
Aleck

InfoatNORD

Hello. NORD's Rare Disease Database, which has reports written for people who aren't medical professionals, covers 1,200+ rare diseases, and we add new topics on an ongoing basis. The reports are reviewed by physicians with expertise on the various diseases. To some extent, this database can be searched by symptom, but we don't promote it for this purpose because we don't want to encourage self-diagnosis. I hope this is helpful.

Adwyer

Hello. I guess my goal is completely in opposition to NORD's goal for this database. First, I want to encourage people (non-professionals and professionals) to learn about rare diseases and if not self diagnose (which some are forced to), at least provide a means to validate a given diagnosis. I wants links to Pubmed articles and encourage exploration of the diseases. If they don't know or understand something in the Pubmed articles to ask. Ask until they understand. Further, since some diseases overlap in symptoms the given diagnosis could be wrong and this will give a method for narrowing down the diseases. In many cases the patients know more about their rare disease than the doctors they are getting help from. Finally, I find the $450 yearly subscription fee to be a substantial barrier to be useful. I believe that a searchable symptom/disease/treatment can be constructed that anyone can have access to because disease symptoms just don't change that much.

I hope you understand that holding for ransom information that could help people is just not my style.

Thanks,
Aleck

UrsaBear

Aleck
Please understand InfoatNORD's point. There is plenty of people out there that self diagnose or want to be diagnosed by someone who is not a doctor. This can become very dangerous, even lifethreatening. Now comes my real true life story:

My mother has this neighbor that just looovvves diagnosing people and their problems and once she convinced my mother to go off her meds. Before us kids knew it, my mom was having panic attacks and showed up at the E.R. at 3am, screaming that she was dying. She wasn't. Next time my siblings got together was not for a celebration, but for a 'pow-wow' to decide if my mother should be committed.

Incidences like this are all too common and I think this may be one reason that NORD is trying to keep amateur diagnosing to the minimum. Just a thought. But I could be wrong.

SickOfBeingSick

I've had just the opposite problem, though. After decades of disabling, if not life-threatening infections, I was just blown off by doctors, probably because my illness is rare and they didn't want to admit they didn't know anything about it and didn't want to bother with researching it. Their time is money and insurance companies discourage diagnosis and treatment of certain rare disorders (told to me directly by my doctor who has stopped diagnosing and treating certain illnesses because of insurance company pressure). When medical information finally became available on the internet, I came up with a possible diagnosis myself. I went to an immunologist for testing and tested positive.

Same with my Addison's Disease (adrenal failure), which resulted from my immune system problems. Four emergency room visits in an Addisonian crisis, in shock, having myoclonal jerks and almost unconscious, didn't get me diagnosed. One ER visit it just got me yelled and screamed at, at the top of her lungs, by an ER nurse for "deliberately falling" and instructions to take some sudafed and accusations that I was a drug addict because I was in shock and couldn't even dial my own cell phone to call someone to pick me up.

Another ER visit for Addison's, it landed me a lecture on how I shouldn't be in the emergency room if I have a chronic illness, even if I had collapsed to the floor and been unable to get up for 2 hours before coming to the emergency room.

Another ER visit for Addison's, I was labelled neurotic for "shaking" when both my potassium and sodium where low (tested after having to go for further care because I didn't get care at the ER).

Another ER visit for Addison's I was treated for enteritis instead of an Addisonian crisis because I had had nausea from the Addison's for days.

It took me doing the research, going to an endocrinologist and asking to be tested for it, to get treatment. Addison's is fatal if left untreated and I had gotten to the point where it was so bad I was collapsing on the floor for hours at a time, unable to even make it to the sofa or the bed. This was called Chronic Fatigue Syndrome by my GP. Again, I probably would be dead if that information hadn't been available on the internet and if I hadn't asked for testing.

I have a research background and am able to read professional articles and get this information. Other people aren't as lucky to have that kind of background or skill or inclination. I wonder how many people are dead because they didn't have the information and some doctor couldn't be bothered to research their rare disease symptoms because their time is money or because they believe rare = impossible or because of insurance company pressure?

Cathy

SickOfBeingSick

Aleck,

I thought the reports the NORD representative is talking about were free? I read a lot of reports from NORD on various disorders when I was first looking for a diagnosis.

Cathy

SickOfBeingSick

Hi Earthling,

Very good suggestions. Thank you.

Cathy

UrsaBear

Well I've got a good one for y'all. This is for all you Ted Nugent fans, or even the ones who can't stand the guy!

About 4 years ago I had this cat that loved chasing my other cat all hours of the day and night. One day these 2 chose to race across my bed in the middle of the night and one of them hit me in the neck with his back claws. He hit my jugular vein and two days later my neck and ear had a huge infection festering.
Well I went to all kinds of doctors and they didn't know what the heck it was. So the infection swelled so much that it closed my left ear, and I was desperate for answers. So I WENT ONLINE and found a condition called Cat Scratch Fever!!..... I can't make this stuff up, my friends.....So I showed it to my specialist and he said, "I think you're right." I'll have to look online for the details, but the specialist ended up having to cut the infection out (an E.N.T. doc), followed by weeks of antibiotics. It was in the lymph noses, so it was a touchy operation. Afterwards my husband bought me the Ted Nugent's Cat Scratch Fever album.

Moral of the story: yes, it is understandable to go online for answers, but if you are lucky you are working with a doctor who you can collaberate with!!

Mand61123

Hi Alek
i'd be willing to help with the admin/data entry side of it if needed am fine on computers and can use the lots of programmes if you need any help just give me a shout.

thanks manda

SickOfBeingSick

Rita,

That's an incredible story! I didn't mean to get on a soapbox, but I feel very strongly about this after my experiences.

Cathy

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