Posted by: E (The Third Glance) | March 1, 2012

World Rare Disease Day

Yesterday, on the rarest of dates (February 29th), was World Rare Disease Day. (the US webpage is here) (It’s usually celebrated on the last day of February – this year was extra special). I know this post is a day late, but it’s a super important cause. A rare disease has several definitions, depending on where you are. In the US, it is defined as one which affects fewer than 200,000 Americans, while in Europe it is defined as affecting less than 1 in 2000 individuals. Either way, these are extremely rare conditions that most people, unless you have had direct contact with an individual with the disease, have ever heard of. This also means that there is not a lot of research funding and activity going into studying these diseases and looking for treatments and cures. Sometimes they’re called “Orphan Diseases” for this reason. However, despite each individual disease being “rare”, collectively, rare diseases affect millions of people around the world. These individuals, and their families, are some of the most courageous and wonderful people in the world, and deserve to be recognized for their fights and for themselves.

I don’t personally know anyone who suffers from a rare disease (that they have told me about explicitly, so this statement may be false) however I do follow a couple of blogs about kids with rare conditions written by some fantastic parents. One of the first blogs I ever found (and I still follow it enthusiastically, though I’ve never commented), is the story of a young boy named Bertrand, who has a genetic condition that is so rare, he might be the only person in the world with it. I can’t do justice to Bertrand’s story, but please go take a look at his blog, and see how amazing he is for yourselves. The other blog I follow, Little Miss Hannah, is the story of a wonderful young girl named Hannah, who suffered from a rare condition called Gaucher’s Disease. Sadly, Hannah earned her Angel Wings this past December, but her spirit lives on with her whole family, and those of us whose lives were touched by her story. Her family has started a great organization called The Little Miss Hannah Foundation, to reach out to those who have been touched with rare disease. I encourage you to go look at both sites, and learn about the wonderful joy Hannah brought to the world.

Those two stories are just the ones I have had the honor of stumbling across, but there are hundreds, if not thousands of others, just as eye-opening and dare I say it, inspiring. In honor of Rare Disease Day, I wanted to pay tribute to these wonderful people who have opened my eyes to the world of rare diseases. And please, in the comments, leave links to other rare disease blogs and stories. And take some time today, and tomorrow, and every day, to think about those affected by rare disease. The more we know, the more we can help change the world.

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Responses

  1. Thank you for this wonderful post, my son has Opitz G Syndrome. http://www.opitzfamilynetwork.com

  2. I think I once read somewhere that as much as 10 percent of the population may have at least one rare condition or another (I don’t remember now where I read this or how accurate the source was, so obviously don’t quote me).

    I myself have what I think is technically a rare condition (myotonic dystrophy type two [DM2]). This is basically a mild form of muscular dystrophy, which is apparently itself actually an umbrella term for I think at least 13 different neuro-muscular conditions. DM2 is similar to another condition called DM1 (myotonic dystrophy type one) but, initially, different muscles are affected first. And DM1 usually tends to be more severe and progresses more quickly than DM2.

    I suspect many rare conditions are not only rare but also severely under-diagnosed, particularly if symptoms are relatively mild / subtle, or easy to confuse with symptoms for other more common symptoms. I have “met” many people on-line who either have been diagnosed with various rare conditions, or suspect they have a particular rare condition, or are still searching for a diagnosis.

    First, if the symptoms are not really obvious or distinctive, it can take a long time to realize that there even is anything wrong to begin with. I did not have any clearly recognizable symptoms of my DM2 until I started experiencing puzzling episodes of muscular pain in my early 30s that clearly had nothing to do with torn muscles or other “over-use” type injuries that I had experienced before. After a few years of these mysteriously recurring episodes I went for a few rounds of tests that went no where, and was basically told to come back if I experience any muscular weakness. So I went away, I didn’t notice any weakness but the pain episodes kept coming back even after treating my mild thyroid problem and taking vitamin D supplements, so I went for a fresh round of testing that eventually led to a genetic test that confirmed my DM2 when I was in my late 30s. This is a condition caused by a dominant gene, which means I inherited it from one of my parents. A year or two later, it was confirmed that my Dad has it also, which we hadn’t known until my own diagnosis led to his own genetic test. Only after we both saw a muscular dystrophy specialist and a physical therapist did we both realize that we had developed some mild weakness in hip muscles and (for me) glutes and thigh muscles as well. Which did explain why I had started having more trouble getting up from the floor than I did when I was younger (but physical therapy exercises, such as lunges, has helped a lot with that for me).

    DM2 is diagnosed far less frequently than DM1–but I suspect that may be partly just because the symptoms tend to be more mild and take more years to show up–and when they do, initially may be easy to mistake for other issues such as fibromygalia, vitamin D deficiency, etc. The more serious (and numerous) the symptoms, the more obvious that SOMEthing is wrong (even if you don’t know yet what it is). And the more serious the symptoms, the harder everyone (including medical personnel) will keep on pushing to figure it out.

    Another factor that can lead to under diagnosis of rare conditions is that some doctors refuse to believe in the possibility that a particular patient may have a particular rare condition. I think this may partly be due to the training that many doctors receive that emphasize the importance of looking for “horses” rather than “zebras” when diagnosing a patient–i.e., look for more common explanations of various symptoms before considering the possibility of something less common. Which certainly seems like a sensible approach to me: hear hooves stampeding in the distance, think “horses” and don’t go looking for zebras coming over the horizon unless you have evidence that it isn’t actually horses. But the problem is, some doctors apparently go on insisting that it can’t be zebras (and certainly not “unicorns” which some people on-line who have VERY rare conditions sometimes jokingly refer to) even after they’ve already firmly eliminated all the possible “horses” and even after it has become glaringly obvious that the symptoms are very consistent with a particular breed of “zebra.” Doctors may simply stop testing and stop looking after all the more common possible diagnoses have been eliminated. This is one more thing that can delay a person’s diagnosis by many years because they may first have to find a different doctor who is more willing to go on looking.

    All of this doesn’t even begin to consider the situation of people living in poverty (in any country) who have more limited access to health care services, which can prolong their search for a diagnosis for even more years–if they ever get officially diagnosed at all. Or the situation of people in developing countries who may have more limited access to health care (due to poor local health service infrastructure) even if not themselves, personally experiencing poverty or living in rural areas where the nearest clinic may be literally two to three days away on donkey back. About 80% of the world population lives in a “developing country.” I wouldn’t be surprised if there are at least four more children with Bertram’s condition in developing countries who have never been diagnosed because they never had the access to doctors and sophisticated medical testing to help them figure out what was going on with their child.

  3. Oh, I don’t (yet) read this blog regularly myself. But this is by an adult who has something very very severe that she has been dying from for years. If she has been diagnosed with something specific, then it’s in a post that I haven’t read. Basically she has a lot of symptoms but (at least in early years? maybe still?) no diagnostic label that quite explains all of them. But you may want to check this one out:

    http://elizabethmcclung.blogspot.com/


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