Monday, February 29, 2016

Rare Disease Day 2016

Today is the day when patients of rare diseases are trying to be heard. Remember the bucket challenge? Many people who never heard of ALS became aware of it. I knew about it since a family friend had it and I could see the impact of that disease. I also know a lot of people who are struggling with getting proper meds due to insurance limitations or FDA limitations. It is something that is important to recognize.

What is a rare disease? (from rarediseaseday.org)
A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. 
A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. 
One rare disease may affect only a handful of patients in the EU (European Union), and another touch as many as 245,000. In the EU, as many as 30 million people alone may be affected by one of over 6000 rare diseases existing.
  • 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
  • 50% of rare diseases touch children.
What is so important is that these diseases need to be more in the minds of the doctors, especially when the patient just doesn't fit the textbook in what they expect to see. In fact, a doctor once said that "...when you hear hooves expect horses, but don't discount the zebras". That is why you may come across the zebra as a representation of the disease. So many people get misdiagnosed or diagnose with it being a psychological problem because the doctor does not want to investigate further and refuses to see the zebra amongst the horses. A correct diagnosis is key to helping a patient either get better or at least feel better. Not all rare diseases are fatal, but all affect the quality of life in a person.
Rare Disease Day website probably puts it better:
The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequlities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients. 
As mentioned, due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.
How you can help? 
Not all rare diseases are invisible, but quite a few are... and those illnesses that aren't rare, this still applies.
Just become aware of the prevalence of the disorders. Personally, I would say that just listening or at lest not denying the person has a problem. Many of these are invisible so even if someone looks "good" they may be feeling terrible. I know that I can deal with a pain level of 6 with a smile... so you never know someone's internal struggle. Don't try to cure them. If they are going to doctors (yes, often plural) then they are well aware of their condition. A cure that your friend's brother's in-law's cousin twice removed had the same thing but is cured... good for them, but it may not be the cure for the person with the rare illness or really any condition. Often those with the same diagnosis do not have the same symptoms or the same medical regimen. Also, recognize that they may have to cancel plans in short notice because they had a flare up. They want to be there, but just can't. Don't take it personally. If you would like to have some idea of what it is like to have an invisible chronic condition read The Spoon Theory. She writes about Lupus, but it works for all kinds of conditions. If you have any kind of a chronic condition that affects how you live, I urge you to read it, it resonates with so many people.

Also know this: if you think about it, with all the rare diseases out there, you probably know someone with it. In fact, I can guarantee it. ;)

Find out more on social media:

Rare Disease Day on FacebookTwitter (@rarediseaseday) Re-tweet and use the hashtag #raredisease, YouTubeGoogle Plus

25 comments:

  1. Ooh I do love these 'days' and especially when they are funny or as in this case make us aware of things that we might otherwise have missed. Thank you for featuring Rare Disease Day.

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    1. I think it is something that needs to be highlighted.

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  2. I've had several friends and relatives with rare diseases and it's always so frustrating. Thanks for highlighting the day.

    Karen @For What It's Worth

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    1. Yep, very frustrating. Hope they are doing well.

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  3. I've known quite a few people with rare diseases or who were misdiagnosed for years. I can imagine it would be very, very frustrating. Thanks for bringing more awareness!

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    1. Very frustrating indeed. Hope they got the help they needed.

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  4. I am sure it is so frustrating to have a rare disease and go from Doctor to Doctor looking for a correct diagnosis.

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    1. Yep. And you find the difference between doctors who aren't trying to help... and those that are.

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  5. I know this first hand with the herd (amazing how many things they can get that people get). The vet always goes there is almost no chance this is it...which of course means that's what the herd has. One of the pups had something that the vets at the vet school hadn't seen in 30+ years of practice.

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    1. Yea... rare doesn't mean impossible unfortunately. You'd be surprised at how many vets are better at finding rare diseases than the human counterparts.

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    2. Nah I can totally see that. Ours are great at figuring things out though it can take time. I think we've had like 8 holy cow this NEVER happens in the last two years. It's been insane. Some of ours have become case studies at the vet school at this point :/ Not sure how we manage to get em all but they sure seem to be drawn to our household.

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    3. I so know what you mean. My mom says I attract those kind that need the help b/c they know I'll take care of them. My vet was shocked recently on what he found in my dobe and lets just say (w/o saying too much) that I knew what to do about it (he's doing good now), but he said that he never saw it in a dog before. :) I guess we both aim to shock and awe. I think they should appreciate us for not making their lives boring. ;)

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    4. Oh and I need to say ((HUGS)) for coping with 8! You rock!

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    5. LOL we say it's because we have sucker on our foreheads and they know that we'll get em healthy.

      Ha! Yeah we all definitely make it less boring. My current vet I started with them about two years ago with a weird case and I went from the start I'm telling you now it's likely the most unexpected thing we get all the weird stuff and he scoffed at it and then a week later after more weirdness with the cat he goes...I get it now. It's a running joke at this point. lol

      Glad your boy is okay!

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    6. At least I'm not the only one with that on their forehead. Bangs don't hide it. :( LOL

      So many human docs just go... nope, not textbook so it can't be and just leave it there. My vet (who I've known forever) and yours at least looks further and does get it. Hey, just keeping them on their toes. At least I tell my vet that. He isn't too happy with my dog's ballet lessons for him. Heh... just tell him that next time. :D I do hope the rest of the herd is doing well. Not to be a downer, but ((HUGS)) for all the recent stuff. :'(

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  6. There use to be a show on DC I think that had cases like what I think would be in this category and they were always so interesting to watch and so heartbreaking that they took so long to find the right diagnosis.

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    1. Yes, I do catch some of those shows from time to time. Interesting and heartbreaking on occasion.

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  7. Thank you for this post, and I love that you featured.
    I have fibromyalgia and bipolar, and def understand the invisible illness and sorry to hear that you deal with rare/invisible as well. The smile at a 6 is coping mechanism I do believe. Can't change it, so learn to live with it is how I keep going.
    My daughter has trichotilomania and trichtophasia (hair pulling and eating hair) and any awareness for these sort of diseases can help.

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    1. Oh do check out the spoon theory if you haven't yet. 6 isn't a huge thing for me unless it is constant. Yep, it is a coping mechanism. My heart goes out to you and especially your daughter. I hope she is having a good day!

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  8. Such a great post Melissa! There are so many people out there suffering in silence or shamed into thinking whatever is bothering them isn't a "real" issue, so creating awareness like this is super important! Thank you for getting the word out there:)

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    1. You are so right. I see so many happy to get the dx just because it means that they were telling the truth. That is so sad.

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  9. Kudos to you for sharing Melissa. While my auto-immune disease isn't rare, I loved what you said about invisible diseases. Flare ups are unexpected and it's so hard to cancel plans, not get on and blog etc. You are awesome for spreading the word!

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    1. Invisible diseases have a lot in common with rare and invisible diseases. It doesn't have to be rare to affect you.

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  10. Wonderful post and thank you so much for sharing! I have a few friends with kiddos with "rare diseases" and my own daughter has "undiagnosed issues" so I am thankful for people spreading the word!

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    1. I hope your daughter finds the correct dx so she can get the proper treatment. Makes a world of difference.

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