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The Girl Who Turned to Bone
- speeder 13y agoHow I disable the annoying popup that prevents me from reading the article at all on a Android?
- ISL 13y agoPerhaps the only permanent fix for such things might be to email the magazine's editor?
- slu 13y agoI read the article using the Dolphin Browser on Android, and I did not see any popup...
- yareally 13y agoMaybe change your user agent to desktop? I don't see the popup though to know what it is and how to prevent it.
- revorad 13y agohttp://www.readability.com/articles/7kplxemi http://www.readability.com/articles/7kplxemi
- habosa 13y agoThis is a must-read, a very interesting article about a very terrible disease. Dr. Kaplan is a professor at UPenn where I'm a Bioengineering major. He gave a lecture to one of my classes about FOP and it was so inspiring to see how much progress he has made on a disease with only a handful of cases that was supposed to be impossible to cure. Imagine trying to cure a muscular disease where you can't even biopsy the muscle of your patients! Dr. Kaplan is an amazing man I hope he kills FOP in his lifetime.
- drharris 13y agoAgreed, and fascinating. To me, an article like this is better than any action novel. Found myself on the edge of my seat trying to figure out how far he'd managed to get! I think it's a perfect look at how building on other people's science is how we really get things done. What if he'd overlooked that paper that unlocked everything for him?
- advisedwang 13y agoI know this is a stupid question, but the article states there are more than 7000 (but presumably less than 8000) diseases effecting 1 in 200000 or fewer, with 25-30 million suffers in the USA. With a population of 300 000 000, * 7000 / 200 000, shouldn't that be about 10 million?
- jacalata 13y agoYou misread it - it says a rare disease is a condition affecting fewer than 200,000 patients in the United States., not 1 in 200,000 or fewer.
- corin_ 13y agoI was wondering about that stat - their estimates suggest that of the 7,000 "rare diseases" which affect <200,000, they each affect, on average, around 4,000 people. Would be interesting to see how that distribution looks on a graph.
- advisedwang 13y agoI was providing the largest estimate, fewer than 200 000 means less than 10 million, which is even further from the articles 25-30 million.
- Someone 13y agoYou misread it - it says a rare disease is a condition affecting fewer than 200,000 patients in the United States., not 1 in 200,000 or fewer (in other words: those rare diseases aren't that rare; according to this definition, 1 in 1,500 people can suffer from a rare disease) So, the math should be 7,000 rare diseases times at most 200,000 sufferers per rare disease = at most 1,400,000,000 sufferers for all rare diseases combined. The actual number will be way lower because many of those 7,000 will be much rarer, because some people may have more than one rare disease and because there simply aren't that many people in the USA.
- bostonpete 13y agoIf there are 7,000 diseases, each affecting 200,000 people or less, the largest estimate would be 7,000 * 200,000 = 1.4 billion. Your math is funky.
- Ygg2 13y agoI'm half sorry, but this article is great example why eugenics is wrong and why empathy and weird mutations trump it every day.
- jkn 13y agoIt shows the value of rare genetic disorders for biological and medical research, but I'm not sure it speaks for or against eugenics, it's a complex question... Look at it from the point of view of an eugenics proponent: this disease is a good example of a genetic condition that you don't want spreading in future generations. Once we have treatments for the 7000 rare diseases mentioned in the article, we will have removed the evolutionary pressure that was keeping these diseases rare. Some eugenics supporters are afraid we are heading towards a society where everybody has to undergo a dozen lifelong treatments due to medicine effectively undermining the process of natural selection. I can also imagine parents suffering from this disease, not wanting to pass it on to their children. So people affected might strongly disagree with you...
- Ygg2 13y agoI guess you could say taking any position to an extreme is bad. However each of these diseases opens paths to future cures. It helps us understand human body better. And those cures will open ways to more ideas, etc. Without diseases we'll never have a chance to explore. I'm not negating those defects don't leave their parents in despair, but I speak from a position of a similar though magnitudes way milder defect (hip displacement). Eugenics taken to extreme would have discarded me. Eugenics on small scales does have some advantages, though I fear it would bring advantages in a way that will only widen inequalities i.e. only people with money would have enough money for it. Rich people wouldn't just have money, but also best looks and best health. Eugenics on large scales is on the other hand simply disastrous as it leaves monoculture and erradication of anything perceived as abnormal.
- guard-of-terra 13y agoWe should use genetic engineering to fix known problems. In an embryo, probably.
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- bobwaycott 13y agoA fascinating, excellently written article; a prime example of high-quality, long-form writing I enjoy reading. A very human story that includes one of the most intriguing forms of "hacking" I know of--working to understand and manipulate our complex biology to improve human life. It is fascinating the ways in which studying rare diseases leads to discovering more information about how our bodies work under normal conditions--discovery that may not have been realized otherwise.
- redschell 13y agoFor anyone interested, a link to photos of Harry Eastlack's skeleton: http://raregeneticdisorder.blogspot.com/2012/09/fop-skeleton.html http://raregeneticdisorder.blogspot.com/2012/09/fop-skeleton... Wonderful article, as expected from Carl Zimmer, who does such a great job of exploring biological mysteries like this.
- raverbashing 13y agoWow This snipped sums it better: "To be displayed in human form, skeletons have to be re-articulated or pieced back together with fine wires and glue. As a result of the bridges of bone that formed from FOP flare-ups, Harry Eastlack's skeleton is almost completely fused into one piece, which proved little challenge for the articulator's craft"
- Jabbles 13y agoHow does the articulator go from body -> skeleton when preparing them for display? Is part of the job to (for example), scoop out the brain?
- willvarfar 13y agoIsn't it to leave a body in lime for a while?
- k__ 13y agoI heard, they cook a delicious stew of you and sell it in Brunswick.
- caycep 13y agoI think basically, the family agrees to an autopsy and there is a branch of medicine, pathology, which specializes in obtaining and preparing tissue samples, primarily for investigation into the causes, progression, and severity of disease. They are the ones that "scoop out the brain" then mount them on slides, stain, etc. With whole skeletons, I'm not sure - usually after autopsy, the "parts" are either put back into the body or otherwise interred in a container. I think maybe the family arranges something w/ the embalmer to remove the muscle and connnective tissue from the skeleton.
- kaichanvong 13y agoFound it fascinating. At the same time so upsetting that I am unable to completely read it all. Will come back to it later. Time to Google if this is 'normal' Starts to Google. Does anyone else feel this way about this and other things?
- kaichanvong 13y agoWould be nice to know why I'm being down voted for having an opinion on an article I'm not used to reading that I deem as being quite emotionally upsetting. Are other people devoid of emotion and enjoying reading it?
- ksmiley 13y agoIt's possible you're getting downvoted because of the way you phrased your post. >> At the same time so upsetting that I am unable to completely read it all. At first I interpreted this as, "[it is] so upsetting [because] I am unable to read it all". It makes it sound like you're complaining that the page didn't load all the way, or something. I had to read it a few times to understand what you meant. It could have been less ambiguous worded as, "At the same time, I am unable to completely read it all because it's so upsetting". If a reader misinterprets this sentence, the rest of the post becomes incomprehensible. >> Time to Google if this is 'normal' "this" is a bit vague here. What do you want to know is normal? Being upset by articles in general? Being upset by articles specifically about rare diseases? Being upset by this specific article? >> Starts to Google. Narration is the kind of thing I'd expect to see in a chat room, but not HN. It makes your tone much less formal, and some might see that as inappropriately flippant for a serious topic. >> Does anyone else feel this way about this and other things? "about this" is vague, again. The "and other things" clause makes this question so broad that it becomes tautological. "Does anyone else feel [upset] about [things that are upsetting]?"
- kaichanvong 13y agoThank you for explaining how you read my comment. I didn't mean anything around the page loading, just that simply was interested if people found the story of the girl's experiences heavy to read on an emotional level. Thus I was interested if I am emotionally weak dealing with this compared to others, why that is and if it's normal to be so shocked by something. Perhaps I should just not have said anything :)
- DanBC 13y agoSee also "The Human Mannequin" about a young woman with FOP who decides to work in the fashion industry. (http://www.channel4.com/programmes/the-human-mannequin/4od http://www.channel4.com/programmes/the-human-mannequin/4od) (http://www.atvtoday.co.uk/9987-fibrodysplasia-ossificans-progressiva-and-fashion/ http://www.atvtoday.co.uk/9987-fibrodysplasia-ossificans-pro...) (http://www.huffingtonpost.com/2012/11/01/louise-wedderburn-the-human-mannequin-raises-awareness-extremely-rare-condition_n_2058612.html http://www.huffingtonpost.com/2012/11/01/louise-wedderburn-t...)
- Sanddancer 13y agoI know someone with FOP, and this pretty much fits his experience. His is a mild case, but he carries crutches because his knee sometimes locks from one of his attacks -- muscle sprain in childhood -- and he needs its support. He's also talked about the pain going to the doctors becomes at times, because pretty much everything is handled by specialists, or with their consultation, and he just wants to get on with life. One of the things that this article doesn't touch on, though, is the difficulty in getting treatment and effective care for comorbid diseases. Because these diseases, especially things like FOP, can manifest in odd ways, they tend to lump all of the other abnormalities together, even if the other symptoms run completely counter to what the disease does to others. So, standard diagnostic batteries for the other diseases aren't run, even if such a diagnostic would be useful in managing body issues that can and do come up. Thankfully, though, he's managed to get a decent amount of day-to-day coping skills with his other disease (Ehlers-Danlos Syndrome) from the internet. It still would be nice for him to get a firm diagnostic, so that interactions and symptoms could better be monitored.
- npsimons 13y agoThe fact that the subject of the OP was diagnosed fairly quickly struck me; more often than not, as you mention, rare diseases are misdiagnosed or completely missed. I've often wondered if someone hasn't done a long term statistical analysis of the probability of seeing rare diseases. It's one thing to think you have a rare disease (and is statistically very unlikely), but if you are a doctor seeing already self-selected ill subjects, wouldn't that change the probabilities significantly? I know modern medicine is quite mentally taxing, and most doctors are trained to be conservative, but maybe just emphasizing the fact that the statistics are different for the population of people seeing doctors might go a long ways to convince doctors not to automatically lump illnesses into the most common categories. That, and making the tests cheaper (like all of them, virtually zero cost; who wouldn't just throw every test they can think of at a problem if the tests were dirt cheap).
- ramigb 13y agoI seriously thought this article was about converting to backBONE.js
- dfkf 13y agoNo, no, no. Don't like. Don't want. Why does mother nature keeps coming with shit like this? :(
- avsbst 13y agoIt is tragic that certain individuals lives are effectively destroyed by losing a genetic lottery, but in the end genetic diversity allows a species as a whole to adapt and deal with unexpected changes in their environment. Even for mutations like FOP there's the possibility that it could benefit humans in the long run. Perhaps a slightly altered form of expression would allow for faster bone regeneration or a reduced chance of osteoporosis. The most relevant example I can think of is Sickle Cell Anemia. Having homozygosity for the mutation causing SCA leads to a multitude of complications and higher risk of death, but heterozygous humans have a significant increase in resistance to Malaria. Mutations are a blessing to some members of a species and a curse to others, but without them life as we know it would never have existed.
- masklinn 13y agoIt's actually impressive, that's a single mutation which causes bruises to heal as bone instead of muscle.
- anoncow 13y agoHistidine to arginine. CAT becomes CGT.
- kschua 13y agoI actually find this case far more intriguing. Probably 1 of 3 in the world http://en.wikipedia.org/wiki/Brooke_Greenberg http://en.wikipedia.org/wiki/Brooke_Greenberg
- conanite 13y agoWow. See also "Tupac Shakur and the End of the World", a short story about a similar condition, caused by a latent virus and triggered by minor injuries. Everyone dies. I hadn't realised when I read it that there was a real-world equivalent ... http://futurismic.com/2010/03/01/new-fiction-tupac-shakur-and-the-end-of-the-world-by/ http://futurismic.com/2010/03/01/new-fiction-tupac-shakur-an... by Sandra McDonald
- JunkDNA 13y agoThis is a fantastic article that is extremely well written and does an excellent job of conveying the science. I think one of the more interesting side-effects of cheap DNA sequencing tech is that we're starting to find out that while any individual rare disease is rare, in aggregate, rare diseases are actually quite common. This also means that many common diseases (especially ones whose causes have eluded researchers) may actually be a constellation of rare diseases that look the same from our 20,000 foot view. Fortunately, cancer is one such disease and it has the advantage of a healthy funding stream plus significant public mindshare. I suspect many of the techniques we are just starting to use to discover the causes of cancer and personalize therapy will start to be applied to rare diseases. These diseases will effectively get to capitalize on all the "infrastructure" that we've been working on without having to bear the cost burden of the inevitable 10's of thousands of dead ends that come with this kind of work.
- pattern 13y agoTo expand on your comment "rare diseases are actually quite common", I was struck by this in the article: More than 7,000 such diseases exist, afflicting a total of 25 million to 30 million Americans That's almost 10% of Americans! I suppose this shouldn't have been surprising given the Birthday Paradox [1], but the ~1/10 statistic puts things into perspective for me. [1]: http://en.wikipedia.org/wiki/Birthday_problem http://en.wikipedia.org/wiki/Birthday_problem
- mtdewcmu 13y agoThat means most of them must be mild. Because, clearly, 10% of Americans don't have something as serious as FOP. There's probably a long tail of increasingly rare and increasingly mild diseases, so that the cutoff is arbitrary.
- jaggederest 13y agoYes, I'm not sure that they're diseases, per se. I think a better term should be found, perhaps 'phenotypes' or 'variants'
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- chiph 13y agoWhat amazed me is that Jeanne Peeper was able to essentially do a pre-internet Kickstarter and raise funds for Kaplan to perform his research, hold a conference, and hire a geneticist. With the power of the internet and how easy it is to set up a phpBB forum, sufferers of rare diseases don't have to live in isolation any more.
- dangoldin 13y agoYea - I had the same thoughts. Do you know if there are Kickstarter like nonprofits dedicated to raising money this way for rare diseases?
- caycep 13y agoI think there is a scientific "kickstarter"-like startup that made the rounds here on HN a while back, though - maybe that could fit the bill? the name escapes me at the moment though.
- caycep 13y agoAT the moment, not really, but the communities of rare diseases often have put together a nonprofit foundation for fundraising, etc. The grants are really not big and don't really fund serious research in that they are a fraction of a typical NIH R01, R23 or K grant, and typically do not cover indirect funding (i.e. the slice of the pie the university or hospital takes for "overhead").
- dmd 13y ago> A rare disease is defined as any condition affecting fewer than 200,000 patients in the United States. More than 7,000 such diseases exist, afflicting a total of 25 million to 30 million Americans. Can that really be true? 1 in 10 Americans has a rare disease?
- ceejayoz 13y agoSure. Most probably just aren't as debilitating as having your flesh turn into bone mass.
- PebblesRox 13y agoI haven't been able to find a good source, but here's what the NCBI says: "In part because data on many conditions are limited to case reports or special population studies, no well-supported estimate exists for the number of people collectively affected by rare diseases. A 1989 government report stated that 10 million to 20 million Americans had a rare condition (NCOD, 1989); the corresponding estimates in 2009 range from 25 million to 30 million (see, e.g., ORDR, 2009). The estimates were not accompanied by analyses or substantive citation of sources." http://www.ncbi.nlm.nih.gov/books/NBK56184/ http://www.ncbi.nlm.nih.gov/books/NBK56184/ The links in the footnotes lead to 404s, but this might be what they're referring to: http://rarediseases.info.nih.gov/asp/resources/ord_brochure.html http://rarediseases.info.nih.gov/asp/resources/ord_brochure.... It doesn't cite sources though and it calls it an estimate. It also says disease or condition, so I'm guessing it includes minor stuff that most people wouldn't really consider a disease. For example, my friend and her mom both have weird ridges on their thumbnails; definitely rare but it doesn't affect their health. Things like that are probably included in the estimate.
- mikeash 13y agoWhy not? If 7,000 diseases exist and 30 million Americans have them, then that's an average of about 4,300 people with each disease, far bellow the 200,000 threshold. Obviously, they aren't all near the average, but there's plenty of headroom.
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- woodchuck64 13y agoSome closeups of the condition: http://www.tumblr.com/tagged/fibrodysplasia%20ossificans%20progressiva http://www.tumblr.com/tagged/fibrodysplasia%20ossificans%20p...
- tokenadult 13y agoFrom farther down in the article: "'I’ve seen 700 patients with FOP around the world, and it’s clear that there’s a lot of different ways to divide patients,' Kaplan said. One identical twin might be only mildly affected, while the other would be trapped in a wheelchair. Some patients developed a frenzy of bones as children, and then inexplicably stopped. 'I’ve seen it go quiet for years and years.'" Wow. That's an important clinical clue, that discordance between identical twins. That suggests that the disease is not best described by a single-gene mutation, strong expressivity http://www.nature.com/scitable/topicpage/same-genetic-mutation-different-genetic-disease-phenotype-938 http://www.nature.com/scitable/topicpage/same-genetic-mutati... simple Mendelian model. And that means that there is something else going on in the clinical expression of the disease besides the gene mutation, which might provide some traction for effective treatment. The last part of the article sums up some interesting ways that insights from rare disease research can help physicians better understand human physiology and perhaps come up with ways to treat more common diseases. A very interesting read.
- caycep 13y agoYes - I think people refer to this as penetrance. I.e. there may be an overall inheritance pattern but additional factors (environment, additional genes, exposures) are needed to cause the expression of the abnormal gene. A lot of conditions are autosomal dominant but incomplete penetrance, and researchers can roughly quantify the percent penetrance of specific conditions.
- fallous 13y agoIt could also be difference in circumstance. Note that the bone growth occurs as a response to muscle damage, so a more active child who suffers a higher incidence of standard bumps and bruises would be more likely to have more ossification.
- datdo 13y agoOh yeah. A classmate at my high school had FOP. I never thought the disease would garner this much attention from the masses.
- zenith2037 13y agoOne of the most interesting articles I've ever read. Nice research too.
- abecedarius 13y agoThe Mayo doctors didn’t tell Peeper’s parents that. All they did say was that Peeper would not live long. It's unclear from the article how much was known yet, but if they knew the growths could be triggered by bruises and other insults, I sure as hell would've wanted to be told.
- Crake 13y agoI love Carl Zimmer. Great article, it was super interesting.
- jmadsen 13y agoFor me, one of the most important things to take away from this story is the possible link to osteoporosis (& a cure for it, although not directly stated). Looking into a disease that affects almost no one might help find a cure for a different one that affects one in ten people. This is why we must also fund the study of "pure science" - of studying things purely for the sake of learning, with no idea ahead of time if we will learn anything "of value" or not. Because there is so much that we don't understand yet, that it is impossible to study the "why" of anything that exists in the world without stumbling across something of more practical value.