WEBVTT - Ep 132 Osteogenesis Imperfecta: All bones about it 0:00:00.120 --> 0:00:03.720 So the day I was born had some quirks. First, 0:00:03.880 --> 0:00:08.320 it was the most beloved of national holidays, Groundhog Day. 0:00:08.760 --> 0:00:12.479 It was an Appalachian February full of blustery snow. And 0:00:12.600 --> 0:00:15.200 this is my favorite part. My dad's truck broke down 0:00:15.240 --> 0:00:17.040 on the way to meet my mom at the hospital, 0:00:17.160 --> 0:00:19.040 so he caught a ride with my uncle Tommy and 0:00:19.079 --> 0:00:23.479 their good buddy Peanut. That's all fun, not atypical, but 0:00:23.600 --> 0:00:27.040 there was one specific quirk about that day that's important. 0:00:27.240 --> 0:00:30.680 I was born with a broken collar phone. At the time, 0:00:30.800 --> 0:00:34.960 this was not super concerning. The concerning part happened ten 0:00:35.000 --> 0:00:37.920 weeks later when I was kicking around in my crib, 0:00:38.320 --> 0:00:41.159 just doing my baby thing, and my mom heard a 0:00:41.200 --> 0:00:44.519 snap and a screen. She rushed me to the er 0:00:44.880 --> 0:00:47.919 and the X ray showed a broken femur. To make 0:00:47.920 --> 0:00:51.000 a long story short way shorter, because you can imagine 0:00:51.000 --> 0:00:54.160 the questions my parents had to answer about that. I 0:00:54.280 --> 0:00:59.000 was eventually diagnosed with a rare bone disease called osteogenesis imperfecta, 0:00:59.120 --> 0:01:03.600 which we call OH or brittlebones for short, because osteogenesis 0:01:03.680 --> 0:01:07.000 and perfecta is a mouthful. I was born in nineteen 0:01:07.040 --> 0:01:09.240 eighty one, and I think at the time, there were 0:01:09.280 --> 0:01:12.640 just a few types. Now there are even more, ranging 0:01:12.720 --> 0:01:17.240 from incredibly severe to very mild. Mine is a mild form. 0:01:17.800 --> 0:01:21.120 Mostly my OI seems to affect the long bones of 0:01:21.160 --> 0:01:24.800 my legs. I've broken my femurs numerous times, which is 0:01:24.880 --> 0:01:28.240 not a bone that typically breaks without major efforts. And 0:01:28.440 --> 0:01:31.080 even though my bones are the most obvious part of 0:01:31.120 --> 0:01:34.600 my body affected by OI, it evidences in other ways 0:01:34.640 --> 0:01:37.759 in my body too. It affects my teeth, which isn't 0:01:37.880 --> 0:01:40.559 common for every person with OI, but mine have always 0:01:40.560 --> 0:01:44.920 broken very easily. I have some intense sculliosis, which again 0:01:45.000 --> 0:01:48.520 not everybody has, but it's not uncommon. As an adult, 0:01:48.600 --> 0:01:51.480 I am a tower in four foot nine. I work 0:01:51.520 --> 0:01:53.680 with kids a lot, and they always think it's awesome 0:01:53.720 --> 0:01:56.440 that I'm usually smaller than they are. The whites of 0:01:56.480 --> 0:01:58.639 my eyes are a little bit blue. That's a common 0:01:58.640 --> 0:02:01.840 part of OI called blue scin. So it definitely shows 0:02:01.880 --> 0:02:05.160 up in my body in all kinds of ways, and obviously, 0:02:05.560 --> 0:02:09.080 because my body is the vehicle through which I experienced life, 0:02:09.360 --> 0:02:10.960 it shows up in my life in. 0:02:10.919 --> 0:02:11.840 All kinds of ways. 0:02:12.120 --> 0:02:15.519 Somebody recently asked me if growing up was hard because 0:02:15.600 --> 0:02:18.880 of my bones and my first thought, honestly, is that 0:02:18.919 --> 0:02:22.080 my childhood was really great. I have the coolest, funniest 0:02:22.160 --> 0:02:25.840 and most genuinely kind parents. They already had my older sister, 0:02:25.880 --> 0:02:28.720 Bridget when I came along, and of course the three 0:02:28.760 --> 0:02:31.200 of them weren't expecting to have a baby with a disability. 0:02:31.280 --> 0:02:34.800 But I never felt anything but loved as an adult. 0:02:34.800 --> 0:02:37.440 I'm especially amazed that they didn't have a Google to 0:02:37.480 --> 0:02:40.080 read about OI. They didn't have anything like WebMD to 0:02:40.120 --> 0:02:42.679 freak out overall the what it is together. There was 0:02:42.720 --> 0:02:45.480 no support group on Facebook they could use for questions. 0:02:45.600 --> 0:02:48.720 The three of them just had each other, and somehow 0:02:48.720 --> 0:02:50.760 they helped me learn to move through the world, a 0:02:50.840 --> 0:02:53.760 world that's definitely not made for all bodies, with some 0:02:53.840 --> 0:02:56.960 independence and with a whole lot of joy. My brother 0:02:57.000 --> 0:02:59.400 came along five years later, and he also has OI. 0:02:59.639 --> 0:03:02.960 We both used a wheelchair and a walker most of 0:03:03.040 --> 0:03:05.280 the time when we were kids because our bones were weak, 0:03:05.360 --> 0:03:07.720 but our parents would just load them up and we 0:03:07.720 --> 0:03:10.520 would still go on family vacations or go hang out 0:03:10.520 --> 0:03:13.520 with family. My mom would pull me through her garden 0:03:13.600 --> 0:03:16.480 and a wagon. My dad would back the wheelchair up 0:03:16.480 --> 0:03:19.000 into my grandparents' house every weekend, so I could hang 0:03:19.040 --> 0:03:22.560 out with them. My big sister, who was always so 0:03:22.720 --> 0:03:25.320 much cooler and more fun and more awesome, would still 0:03:25.360 --> 0:03:27.320 take me out and do things with me. So with 0:03:27.400 --> 0:03:30.880 my family, I never felt left out. School was a 0:03:30.919 --> 0:03:33.200 little bit different, and of course it would be The 0:03:33.240 --> 0:03:36.920 word I usually heard people describe me with was fragile, 0:03:37.560 --> 0:03:39.680 and for a good reason. Any adult at a school 0:03:39.680 --> 0:03:43.600 would want kids to be extra careful around you. Sports 0:03:43.640 --> 0:03:46.920 were huge in my small town, and naturally any kind 0:03:46.960 --> 0:03:49.640 of contact sport was a heck no for me. But 0:03:49.760 --> 0:03:52.800 as my friends got more and more into sports, I 0:03:53.040 --> 0:03:56.120 full on embraced my nerd self and I got into books. 0:03:56.480 --> 0:03:59.000 I love to read, and I realized pretty soon I 0:03:59.120 --> 0:04:01.720 love to write, and even if I weren't disabled, I 0:04:01.760 --> 0:04:05.520 would have loved writing. But I think my disability was 0:04:05.560 --> 0:04:10.279 a conduit to the early realization that my imagination is limitless. 0:04:10.640 --> 0:04:13.800 In the actual physical world, my body has limits, sometimes 0:04:13.840 --> 0:04:16.839 a lot of them, but my imagination doesn't and it 0:04:16.920 --> 0:04:20.000 never has, and I learned how to flex my imagination 0:04:20.200 --> 0:04:23.000 like a muscle. It's another way I got through the 0:04:23.040 --> 0:04:26.839 trauma that can come with OHI A specific memory I 0:04:26.920 --> 0:04:29.120 have of that would be when I would break my 0:04:29.200 --> 0:04:31.520 leg and I would be at the hospital waiting to 0:04:31.520 --> 0:04:34.680 get it set, which is a very painful process, And 0:04:34.760 --> 0:04:37.080 as that was happening, I would close my. 0:04:37.040 --> 0:04:38.640 Eyes and I would imagine Narnia. 0:04:38.839 --> 0:04:41.080 I would think about as Land from the Lion, the 0:04:41.080 --> 0:04:43.680 witch in the wardrobe right, and what his fur would 0:04:43.720 --> 0:04:46.279 feel like between my fingers, or I would imagine what 0:04:46.360 --> 0:04:48.760 his roar sounded like, and if I could feel it 0:04:48.800 --> 0:04:51.760 inside my chest. And that made me feel brave. And 0:04:51.800 --> 0:04:55.159 I think that's where I realized fiction has the very 0:04:55.240 --> 0:04:58.880 real benefit of helping me realize how brave I can be. 0:04:59.440 --> 0:05:01.920 So it got me through some of that. Because of 0:05:02.000 --> 0:05:04.320 the type of OI I have, my bones did get 0:05:04.440 --> 0:05:07.640 a little stronger as I got older. There's no cure 0:05:07.680 --> 0:05:10.320 for OI, so my bones are always going to be fragile. 0:05:10.480 --> 0:05:13.400 But around the time I started high school, I was 0:05:13.480 --> 0:05:17.000 able to walk independently without a walker or a wheelchair 0:05:17.120 --> 0:05:20.880 as long as I was careful, And I realized then, 0:05:21.120 --> 0:05:23.720 for me at least, sometimes it's just as hard, if 0:05:23.760 --> 0:05:26.240 not harder, to advocate for your body and your health 0:05:26.240 --> 0:05:30.160 when your disability seems invisible, even though it isn't, even 0:05:30.240 --> 0:05:32.760 though it's something that still dictates everything you do in 0:05:32.800 --> 0:05:37.880 a day as an adult, especially lately, OI has affected 0:05:37.880 --> 0:05:40.560 my career, but not in a way I thought it would. 0:05:41.040 --> 0:05:43.600 I actually get to write for a living, which has 0:05:43.640 --> 0:05:47.360 been my dream job since I was in third grade. Specifically, 0:05:47.400 --> 0:05:50.880 I get to write novels for kids. To me, those 0:05:50.920 --> 0:05:53.640 novels that we read as kids are at the best books. 0:05:53.680 --> 0:05:56.440 Those are the books that help me trudge through the dark, 0:05:56.600 --> 0:05:59.359 that helped me realize how brave I could be. My 0:05:59.440 --> 0:06:03.160 first novel for kids was published in twenty fourteenth Scholastic. 0:06:03.680 --> 0:06:06.440 My first novel was a contemporary fantasy called a Snicker 0:06:06.480 --> 0:06:09.240 of Magic, and I got to keep writing more and 0:06:09.320 --> 0:06:12.680 more after that, and I love it. But I had 0:06:12.800 --> 0:06:16.440 never written a character like me who had OI until now. 0:06:16.839 --> 0:06:20.920 My most recent novel, Hummingbird, came out in August of 0:06:20.960 --> 0:06:23.719 twenty twenty two, and this one is about a girl 0:06:23.880 --> 0:06:28.320 named Olive who is homeschooled because she also has osteogenesis 0:06:28.360 --> 0:06:31.320 and perfecta, and her parents are kind of nervous about 0:06:31.360 --> 0:06:33.920 all of attending the public school, but she talks them 0:06:33.960 --> 0:06:36.400 into it. She goes, and the first day of sixth 0:06:36.480 --> 0:06:39.760 grade is a disaster, as sixth grade often is, until 0:06:39.800 --> 0:06:42.880 she hears a story about an enchanted creature in the 0:06:42.880 --> 0:06:46.160 woods that Grant's wishes, and she decides she is going 0:06:46.240 --> 0:06:50.160 to find it now. Obviously, Olive, like I said, has 0:06:50.200 --> 0:06:53.159 brutal bones, HERI is mildlike mind, and at first this 0:06:53.360 --> 0:06:55.479 wasn't going to be a big part of her story 0:06:56.000 --> 0:06:58.960 because honestly, I didn't know if people wanted to really 0:06:59.000 --> 0:07:01.680 read about how I felt about my disability. The most 0:07:01.720 --> 0:07:04.240 common line I see in books when a character is 0:07:04.279 --> 0:07:08.440 disabled is something like, my disability is my superpower, which 0:07:08.480 --> 0:07:12.640 is awesome, but it's not always how I feel. Most days, 0:07:12.800 --> 0:07:15.320 I love my life and I'm grateful for my body. 0:07:15.680 --> 0:07:19.560 I'm grateful I get experienced life inside it, but my 0:07:19.680 --> 0:07:23.160 body also breaks for seemingly no reason sometimes, and that 0:07:23.200 --> 0:07:27.360 can be frustrating and painful. I always say my relationship 0:07:27.360 --> 0:07:29.800 with my body will be the most complicated I have 0:07:29.920 --> 0:07:32.960 in my life, and that's true, but who would want 0:07:33.000 --> 0:07:35.360 to read that? So at first, when I was writing 0:07:35.400 --> 0:07:38.280 about Olive, I just wanted her to be fully, completely 0:07:38.320 --> 0:07:41.400 confident in herself, figuring out her own way to move 0:07:41.400 --> 0:07:45.360 through the world. Magic Adventure First crushures all of that 0:07:45.400 --> 0:07:48.040 good stuff, but it's like I couldn't find the heart 0:07:48.120 --> 0:07:51.160 of her story. And then in twenty nineteen, I was 0:07:51.160 --> 0:07:53.800 walking through the kitchen one night to check the doorlocks 0:07:54.080 --> 0:07:56.880 and I slipped and dog droll and as I was falling, 0:07:56.960 --> 0:08:00.920 I heard the snap that water is sickening, terrible sound, 0:08:01.360 --> 0:08:03.520 and then came this flood of pain, because breaking the 0:08:03.600 --> 0:08:06.800 femur is no joke. And in the months after that, 0:08:06.920 --> 0:08:09.360 I remembered what it feels like to be in that 0:08:09.800 --> 0:08:13.840 specific place again, to be in physical therapy again, nervous 0:08:13.880 --> 0:08:16.280 every time something hurts, to not be able to get 0:08:16.280 --> 0:08:19.080 in some buildings again because there's no access to them. 0:08:19.640 --> 0:08:21.840 And one night I was playing Mario on the couch 0:08:21.880 --> 0:08:24.920 beside my husband, having an intense pity party for myself, 0:08:24.960 --> 0:08:27.559 and I said, I'm broken and I hate my body 0:08:27.600 --> 0:08:31.560 and I'm frustrated, and he very gently said, hey, your 0:08:31.640 --> 0:08:35.520 leg's broken, you aren't broken. And that's what gave me 0:08:35.600 --> 0:08:38.800 the clarity I needed to write a Hummingbird in a 0:08:38.840 --> 0:08:41.960 way that was absolutely true to me. All of and 0:08:42.000 --> 0:08:44.760 I both love our families, we both love Dolly Parton, 0:08:44.920 --> 0:08:47.959 we both romanticize life and we see the magic in it, 0:08:48.480 --> 0:08:51.040 and we both have this disability that is sometimes really 0:08:51.040 --> 0:08:54.720 frustrating especially all of age. She's twelve. In the story, 0:08:55.160 --> 0:08:58.040 she is seeing how bodies are changing all around her 0:08:58.160 --> 0:09:00.959 and how hers isn't, or how it is changing but 0:09:01.000 --> 0:09:03.000 not quite the same way, and that can be tough. 0:09:03.080 --> 0:09:05.520 It was tough for me at least. I remembered what 0:09:05.600 --> 0:09:08.200 it was like to feel left out, to be called fragile. 0:09:08.679 --> 0:09:11.600 But I also remember the people in my life who 0:09:11.640 --> 0:09:14.880 loved me and who called out every good thing instead. 0:09:15.000 --> 0:09:19.080 My parents, my siblings, now justin my husband, my friends. 0:09:19.520 --> 0:09:22.440 They've all helped me find these doorways into my imagination, 0:09:22.640 --> 0:09:24.680 and they've helped me make the life I love that 0:09:24.800 --> 0:09:27.920 I'm really proud of. So in the story, all of 0:09:28.120 --> 0:09:30.720 actually sets out thinking she is going to wish away 0:09:31.040 --> 0:09:33.360 her OI. And I won't spoil it and tell you 0:09:33.400 --> 0:09:35.800 what happens, but I will say that, like all of 0:09:36.400 --> 0:09:40.000 I still believe a person's body is the least interesting 0:09:40.040 --> 0:09:43.440 thing about them. But having said that, I'm more passionate 0:09:43.480 --> 0:09:46.880 than ever about writing books where every kind of kid 0:09:47.080 --> 0:09:50.160 and everybody feels accepted and loved and knows they have 0:09:50.240 --> 0:09:52.719 a place to belong. No matter how old we are, 0:09:52.760 --> 0:09:54.840 I think we all just want to know somebody's staving 0:09:54.880 --> 0:09:57.760 a seat for us in the cafeteria. And because of 0:09:57.800 --> 0:10:01.199 that book, I am talking a lot about OI now 0:10:01.240 --> 0:10:03.959 and how it looks in my life, and specifically when 0:10:04.000 --> 0:10:06.199 I talk to kids. There is one scene I bring up. 0:10:06.320 --> 0:10:08.880 There is a scene where all of wonders if she's 0:10:09.040 --> 0:10:11.400 ever going to have a big life because of her body. 0:10:11.480 --> 0:10:15.120 She's experiencing gym class for the first time, and that's 0:10:15.160 --> 0:10:18.240 when her self esteem really starts to tank because she 0:10:18.240 --> 0:10:20.960 sees how different bodies looks, and she starts asking the 0:10:20.960 --> 0:10:23.760 big questions, what if nobody ever wants to go out 0:10:23.760 --> 0:10:26.640 with me because my body doesn't look like other people's bodies? 0:10:26.679 --> 0:10:28.640 What if I can't have the career I want to 0:10:28.679 --> 0:10:30.720 have because of how I look? All of the big 0:10:30.760 --> 0:10:33.600 hard stuff and the answer to that question, This is 0:10:33.600 --> 0:10:36.679 what I tell kids, even though it's kind of corny. Yes, 0:10:36.920 --> 0:10:39.000 you get to have a big, amazing life in the 0:10:39.040 --> 0:10:40.800 body you are in. You get to fall in love, 0:10:40.920 --> 0:10:44.000 you get to have adventures and experience so much joy. 0:10:44.600 --> 0:10:47.880 This is all one small part of a really big story. 0:10:48.000 --> 0:10:50.600 And I hope other kids with OOUGHI have never ever 0:10:50.679 --> 0:10:53.760 doubted that maybe they haven't, and that would be awesome, 0:10:53.800 --> 0:10:56.760 But just in case, there's somebody out there wondering like 0:10:56.800 --> 0:10:59.000 I did, if the body therein will hinder them from 0:10:59.120 --> 0:11:01.520 living the life if they want to have it, won't. 0:11:01.920 --> 0:11:03.880 I hope kids who read the book, No, there's magic 0:11:03.880 --> 0:11:06.640 out there waiting for them. They get to experience it 0:11:06.679 --> 0:11:09.600 in the body therein, and they deserve every good thing 0:11:10.440 --> 0:11:13.120 to end. I'll say that in the story, there is 0:11:13.160 --> 0:11:16.120 a line when Olive says, my bones are fragile, but 0:11:16.240 --> 0:11:19.200 I am not, and that is how I feel about 0:11:19.200 --> 0:12:00.479 my body too. 0:12:06.720 --> 0:12:12.000 Oh my gosh, Natalie, thank you so so much for 0:12:12.160 --> 0:12:15.720 sharing your story like that was absolutely amazing. 0:12:16.000 --> 0:12:18.560 Yeah, thank you for sharing it with us and all 0:12:18.600 --> 0:12:21.880 of our listeners and so many more with your book. 0:12:22.240 --> 0:12:26.440 Yes, oh my gosh. Okay, everyone right now, go out 0:12:26.440 --> 0:12:30.800 pick up a copy of Hummingbird by Natalie Lloyd. It 0:12:30.920 --> 0:12:34.200 is amazing. I cannot recommend it highly enough. I laughed, 0:12:34.240 --> 0:12:37.520 I cried like I could not put it down. And 0:12:37.720 --> 0:12:39.880 Natalie has so many other books, so you can find 0:12:39.920 --> 0:12:43.280 them all on her website Natalie Lloyd dot com. And 0:12:43.320 --> 0:12:45.199 we will also post a link to where you can 0:12:45.240 --> 0:12:48.360 find all of Natalie's books on our show notes for 0:12:48.400 --> 0:12:51.720 this episode, as well as on our website for this episode. 0:12:51.960 --> 0:12:54.560 We sure will Hi, I'm erin. 0:12:54.480 --> 0:12:56.880 Welsh and I'm erin alman Updyke. 0:12:56.760 --> 0:12:58.800 And this is this podcast will kill you. 0:12:59.240 --> 0:13:04.679 And today we're talking about osteogenesis imperfecta. We certainly are. 0:13:05.800 --> 0:13:08.800 This is a really interesting one because I know we've 0:13:08.840 --> 0:13:12.440 been doing more non infectious diseases like as the seasons 0:13:12.440 --> 0:13:16.120 have gone on, but it's just amazing how each one 0:13:16.160 --> 0:13:18.360 of them sort of gives us this opportunity to look 0:13:18.400 --> 0:13:23.200 at something totally different that we never really get to 0:13:23.320 --> 0:13:28.559 think about, like collagen. I know, what the heck. 0:13:28.440 --> 0:13:32.080 It's been since season two that we've talked about collagen. 0:13:32.200 --> 0:13:35.480 I know, I kept thinking collagen is the pull and 0:13:35.559 --> 0:13:36.520 peel Twizzlers? 0:13:36.640 --> 0:13:41.120 Is that? Yes? Oh my gosh, Aaron, you basically took 0:13:41.120 --> 0:13:42.839 my whole biology section done. 0:13:42.760 --> 0:13:47.600 Done, onto the history. Just kidding, just kidding. We do 0:13:47.679 --> 0:13:50.200 have a lot to cover today, and so maybe we 0:13:50.240 --> 0:13:54.320 should start by getting into quarantine any time. 0:13:54.679 --> 0:13:59.520 Absolutely, what are we drinking this week? Aaron? 0:14:00.880 --> 0:14:01.360 This week? 0:14:01.440 --> 0:14:01.720 Aaron? 0:14:02.520 --> 0:14:07.240 I love this me too. We're drinking the collagen fizz. 0:14:10.120 --> 0:14:13.480 It's just feels good that I can't believe that we've 0:14:13.520 --> 0:14:14.480 never done it before. 0:14:14.640 --> 0:14:17.320 I know, we both scrolled through are like our entire 0:14:17.400 --> 0:14:22.120 page of quarantinies looking for it. Their collagen doesn't appear 0:14:22.160 --> 0:14:23.320 in the title, right. 0:14:23.240 --> 0:14:26.680 Yeah, which I mean clearly we need to do more 0:14:26.720 --> 0:14:30.320 collagen based diseases, for sure. There's so many other options, 0:14:30.400 --> 0:14:33.720 for sure. In any case, what's in a collagen fizz? 0:14:33.880 --> 0:14:38.280 A collagen fizz is just a simple twist variant on 0:14:38.360 --> 0:14:42.160 your standard gin fizz. It has gin naturally, it has 0:14:42.240 --> 0:14:47.600 collagens collagen it actually kind of does. It has passion 0:14:47.600 --> 0:14:51.480 fruit juice, it has lime juice, simple syrup, club soda, 0:14:51.600 --> 0:14:56.480 and of course for the collagen part, egg white foam. 0:14:56.760 --> 0:14:57.360 Gotta love that. 0:14:57.760 --> 0:14:58.400 Yeah. 0:14:58.600 --> 0:15:01.560 We'll post the full recipe that quarantine as well as 0:15:01.560 --> 0:15:04.560 our non alcoholic plusy barreta on our website This Podcast 0:15:04.560 --> 0:15:06.880 will Kill You dot Com and our social media. Do 0:15:06.920 --> 0:15:08.400 you follow us yet? You should follow us? 0:15:08.440 --> 0:15:14.320 There website stuff on our website This Podcast will Kill 0:15:14.360 --> 0:15:17.640 You dot Com. There's no end to what you can find. 0:15:18.800 --> 0:15:22.120 There's transcripts, there's sources for each and every one of 0:15:22.160 --> 0:15:25.800 our episodes. There's music by Bloodmobile check it out. There 0:15:25.800 --> 0:15:28.800 are links to bookshop dot org, affiliate account, and our 0:15:28.840 --> 0:15:32.800 Goodreads list. There's links to merch, which is pretty sweet 0:15:32.840 --> 0:15:37.280 if you ask me. There's links to Patreon. There's a 0:15:37.280 --> 0:15:41.520 little about us section that is woefully outdated. 0:15:42.120 --> 0:15:44.960 Woefully I just looked at it and I was like, oof, Yep, 0:15:45.640 --> 0:15:48.600 we updated it since we graduated, but it's been a minute. 0:15:49.800 --> 0:15:51.880 I've avoided looking at it because I'm like, this is 0:15:52.640 --> 0:15:54.240 it's gonna make me want to do something, and I 0:15:54.280 --> 0:15:57.080 don't want to do something about it right now. Anyway, 0:15:57.680 --> 0:15:59.440 lots of stuff on our website. 0:15:59.560 --> 0:16:03.640 Check it out. Mm hmmmm hm. Well with that, should 0:16:03.720 --> 0:16:07.600 we get into the biology of this disorder? 0:16:08.000 --> 0:16:41.720 We absolutely should right after this break. 0:16:42.400 --> 0:16:47.920 Osteogenesis imperfecta is also called brittle bone disease, and that 0:16:48.520 --> 0:16:54.280 Moniker exists because the main symptom or consequence rather of 0:16:54.400 --> 0:16:59.680 osteogenesis imperfecta is in fact, bones that are very prone 0:16:59.800 --> 0:17:05.760 to fracture, bones that break easily and are brittle. But 0:17:06.600 --> 0:17:09.399 of course it's a bit more complicated than that. And 0:17:09.720 --> 0:17:14.080 in fact, osteogenesis imperfecta is a lot more complicated than 0:17:14.080 --> 0:17:16.639 I realized when we decided to do this episode. 0:17:17.240 --> 0:17:18.880 I had no idea. 0:17:19.240 --> 0:17:24.320 It's classic, classic, right, yeah, so historically speaking, and I 0:17:24.359 --> 0:17:26.520 promise I'm not stepping on your toes arin. 0:17:27.000 --> 0:17:27.600 How dare you? 0:17:27.920 --> 0:17:30.000 Mm hmm, I say the word history, and then I 0:17:30.040 --> 0:17:37.360 have to qualify it. But historically speaking, osteogenesis imperfecta had 0:17:37.440 --> 0:17:41.840 been classified into like four different subgroups, types one through four. 0:17:42.720 --> 0:17:47.560 Type one was considered relatively mild and by far considered 0:17:47.600 --> 0:17:53.000 the most common type of osteogenesis imperfecta. Type two was 0:17:53.200 --> 0:17:58.040 the most severe and actually lethal perinatally, so either shortly 0:17:58.080 --> 0:18:03.399 before birth or after birth. Type three was considered relatively 0:18:03.440 --> 0:18:07.399 severe and progressive, and then type four was considered the 0:18:07.440 --> 0:18:14.159 most moderate, so somewhere in between types one and type three. Nowadays, though, 0:18:14.800 --> 0:18:19.680 this classification system does not hold up because we have 0:18:19.920 --> 0:18:25.520 now identified dozens of potential mutations that are involved and 0:18:25.680 --> 0:18:29.800 a very wide range of clinical phenotypes or the way 0:18:29.840 --> 0:18:35.199 that osteogenesis imperfecta presents. And so what we know now 0:18:35.760 --> 0:18:39.520 is that at its core, no matter what the mutation 0:18:39.720 --> 0:18:42.480 or mutations are that are involved, and we'll get there, 0:18:42.520 --> 0:18:46.919 we'll talk about all of that. But osteogenesis imperfecta is 0:18:47.200 --> 0:18:52.920 broadly speaking, a disorder of collagen formation. So to understand it, 0:18:53.400 --> 0:18:58.400 let's start first with collagen yay, good, And for this 0:18:58.640 --> 0:19:02.000 we can harken back to our Scurvy episode all the 0:19:02.000 --> 0:19:05.160 way back in season two, still one of my all 0:19:05.200 --> 0:19:08.639 time phaves. I think same same, such a great episode, 0:19:08.680 --> 0:19:10.720 it's super fun. If you haven't listened, check it out. 0:19:12.280 --> 0:19:15.760 But collagen is integral to the story of scurvy, just 0:19:15.800 --> 0:19:19.440 as it's integral to the story of osteogenesis imperfecta. So 0:19:19.560 --> 0:19:23.000 collagen is a protein, it's a whole bunch of proteins, 0:19:23.520 --> 0:19:28.199 structural proteins that happen to be one of, if not 0:19:28.520 --> 0:19:33.679 the most common proteins in our human bodies. And proteins 0:19:33.800 --> 0:19:38.240 are simply chains of amino acids. That's really all they are. 0:19:38.840 --> 0:19:42.240 And in the case of collagen, collagen is made of 0:19:42.280 --> 0:19:48.840 a few different specific amino acids glycine, prolene, hydroxyproleine, hydroxy lysine, 0:19:48.880 --> 0:19:51.760 and probably some others, but glycine is an important one. 0:19:52.640 --> 0:19:56.240 And in a collagen protein, here is the way that 0:19:56.359 --> 0:20:01.560 it forms. Amino Acids make chains link together to form chains. 0:20:02.640 --> 0:20:07.600 These chains are called pro collagens. Three of these chains 0:20:08.080 --> 0:20:11.320 have to then twist together in a certain way in 0:20:11.400 --> 0:20:14.560 what's called a triple helix. So if you think of 0:20:14.600 --> 0:20:17.040 our DNA as being a double helix, this is a 0:20:17.160 --> 0:20:21.920 triple helix and this triple helix is what you mentioned, Aaron. 0:20:21.960 --> 0:20:25.280 You can think of it like a pull and peel twizzlers. 0:20:25.080 --> 0:20:28.280 Right exactly what is I'm picturing in my head right now? 0:20:28.400 --> 0:20:31.720 Yes, that is what you should be picturing. But then 0:20:32.160 --> 0:20:36.040 multiple of these twizzlers, multiple of these triple helices have 0:20:36.280 --> 0:20:41.000 to then come together in a fairly complex way to 0:20:41.200 --> 0:20:44.879 form the larger scale fibers and networks that make up 0:20:45.280 --> 0:20:51.280 collagen as a whole. Protein and collagen or collagens happen 0:20:51.320 --> 0:20:54.560 to be pretty important proteins. Like I said, some papers 0:20:54.640 --> 0:20:57.400 will tell you that thirty percent of the dry weight 0:20:57.520 --> 0:20:59.280 of our body is collagen. 0:20:59.560 --> 0:21:00.240 I saw that. 0:21:00.760 --> 0:21:04.080 Yeah, it's massive. I had no idea like me either. 0:21:04.480 --> 0:21:06.320 I knew collagen was a big deal, but I didn't 0:21:06.320 --> 0:21:09.320 know it was that big of a deal. And it's 0:21:09.400 --> 0:21:12.560 not just collagen, as I've alluded to. There are in 0:21:12.680 --> 0:21:17.359 fact five different types of collagen, types one through five, 0:21:17.880 --> 0:21:21.960 that make up literally so many parts of our body. 0:21:22.080 --> 0:21:27.040 These are structural proteins. Collagen makes up our blood, vessels, 0:21:27.480 --> 0:21:32.040 our muscles, our skin, our cartilage, our connective tissue, the 0:21:32.119 --> 0:21:36.200 basement membranes, which is like where one layer of cells 0:21:36.280 --> 0:21:39.520 might change to a different type of cells. They make 0:21:39.600 --> 0:21:44.040 up our hair, and of course, our bones. Integral to 0:21:44.119 --> 0:21:48.560 today's episode of these five different types of collagen, our 0:21:48.720 --> 0:21:53.480 bones are primarily made up of type one collagen, which 0:21:53.600 --> 0:21:58.600 then becomes mineralized to form our hard bones. But type 0:21:58.640 --> 0:22:01.960 one collagen is not only found in our bones. It's 0:22:02.080 --> 0:22:05.879 also an important component of our skin, of our tendons, 0:22:06.240 --> 0:22:08.879 of our blood vessels, and even the structure of a 0:22:08.920 --> 0:22:11.560 lot of our organs. Can I just throw out the 0:22:11.680 --> 0:22:13.800 etymology of collagen real quick, because I. 0:22:13.960 --> 0:22:18.480 Don't have it in my history, please. It basically means 0:22:18.840 --> 0:22:20.679 like glue generating. 0:22:21.960 --> 0:22:24.800 I love that. Yeah that's very accurate, Like collagen holds 0:22:24.880 --> 0:22:25.320 us together? 0:22:25.560 --> 0:22:26.880 Yeah, exactly. 0:22:28.920 --> 0:22:33.520 Beautiful. So collagen, it's a complex protein. I just keep 0:22:33.600 --> 0:22:37.280 saying collagen as if it's singular. It's many collagen. 0:22:37.400 --> 0:22:41.840 I mean, we also talk about osteogenesis imperfecta as a disorder, 0:22:41.920 --> 0:22:45.000 and it's certainly not a dissember. 0:22:44.920 --> 0:22:49.600 So forgive us for the grammatical errors here. But because 0:22:49.840 --> 0:22:54.720 these are complex proteins, it is then understandable that there 0:22:54.840 --> 0:22:57.760 are a lot of places where things could get a 0:22:57.880 --> 0:23:02.840 little wonky, and we talked about some of that in 0:23:03.080 --> 0:23:07.119 our scurvy episode. There is some like deep biochemistry that 0:23:07.240 --> 0:23:10.720 we could get into about, like the triplet complexes and 0:23:10.960 --> 0:23:13.800 how they have to form with every third amino acid 0:23:13.880 --> 0:23:18.000 being glycine and et cetera, et cetera. But if we 0:23:18.240 --> 0:23:21.960 just think of making a protein as starting with a 0:23:22.080 --> 0:23:25.840 set of building blocks like connects, those are the best 0:23:25.880 --> 0:23:27.440 ones I can think of. You know those toys. 0:23:27.560 --> 0:23:28.080 Yeah, yeah. 0:23:28.840 --> 0:23:32.600 So if each of these blocks are our amino acids, 0:23:33.160 --> 0:23:36.000 these have to fit together to make a specific type 0:23:36.040 --> 0:23:38.800 of strand, and then each of these strands have to 0:23:38.880 --> 0:23:42.120 fit together in this precise way for this triple helix 0:23:42.200 --> 0:23:44.880 to be formed in the correct way so that it's 0:23:45.000 --> 0:23:50.639 strong enough and able to then fold and twist together 0:23:50.880 --> 0:23:55.560 to build larger structures. At any and all of these levels, 0:23:55.680 --> 0:23:59.600 at the amino acid level, or at the triple helix level, 0:24:00.160 --> 0:24:03.160 or at the larger structural level, there could be things 0:24:03.240 --> 0:24:07.320