Transcrição completa de Losing Noah

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1 00:00:01,200 --> 00:00:05,010 Kristelle Shulman: My name is Kristelle Shulman. I am a nurse 2 00:00:05,010 --> 00:00:09,540 practitioner for about almost 20 years, 3 00:00:09,720 --> 00:00:13,290 Evan Shulman: and I'm Evan Shulman, and I've been a PA, or 4 00:00:13,350 --> 00:00:15,270 physician assistant, for 20 years. 5 00:00:15,270 --> 00:00:18,720 Kristelle Shulman: That's actually how we met. In the 6 00:00:18,810 --> 00:00:19,260 hospital. 7 00:00:19,380 --> 00:00:25,065 Evan Shulman: Yep, that was it. She said hello to me in the 8 00:00:25,065 --> 00:00:28,575 elevator, and we had both looked at each other, I guess, for a 9 00:00:28,575 --> 00:00:32,145 while, but at the time Kristelle was working in the recovery 10 00:00:32,145 --> 00:00:37,035 area, and I never had an excuse to talk to her, and the elevator 11 00:00:37,035 --> 00:00:41,175 was, was it one day. 12 00:00:41,175 --> 00:00:44,055 Lauren Arora Hutchinson: In many ways, Evan and Kristelle are an 13 00:00:44,055 --> 00:00:50,370 ordinary couple, two working people with busy lives. They're 14 00:00:50,370 --> 00:00:54,240 now married. They live in New York City. They love to 15 00:00:54,240 --> 00:00:59,190 exercise. And shortly after getting married in 2015, they 16 00:00:59,190 --> 00:01:04,710 did what many couples do. They decided to start a family. 17 00:01:04,709 --> 00:01:07,109 Kristelle Shulman: We had a normal pregnancy, as well as 18 00:01:07,109 --> 00:01:14,504 delivery. Noah was born on December 29th, 2016 It was the 19 00:01:14,504 --> 00:01:21,674 best feeling in the world. Inexplicable, I would say. 20 00:01:21,675 --> 00:01:26,325 Evan Shulman: He was born relatively healthy, initially 21 00:01:26,325 --> 00:01:31,335 had some low glucose levels. He was checked multiple times by 22 00:01:31,335 --> 00:01:34,710 the pediatric team, by the NICU. They assured us everything was 23 00:01:34,710 --> 00:01:39,510 fine, and he was right from the beginning pretty difficult to 24 00:01:39,510 --> 00:01:41,040 feed. 25 00:01:41,040 --> 00:01:43,530 Lauren Arora Hutchinson: Noah struggled to breastfeed. While 26 00:01:43,530 --> 00:01:47,040 this was troubling to Evan and Kristelle, the hospital staff 27 00:01:47,040 --> 00:01:50,490 reassured them there was nothing to worry about. 28 00:01:50,490 --> 00:01:53,550 Evan Shulman: In the hospital, we were assured that he's, you 29 00:01:53,550 --> 00:01:57,705 know, newborn, and he'll get it. He just needs time to get it. By 30 00:01:57,705 --> 00:02:01,365 the time we were discharged home, Kristelle had actually met 31 00:02:01,365 --> 00:02:06,555 with a lactation consultant, in addition to the pediatric team, 32 00:02:06,555 --> 00:02:10,335 the NICU team. Everybody met with us and reassured that 33 00:02:10,335 --> 00:02:12,315 everything's normal, so we went home… 34 00:02:13,425 --> 00:02:17,265 Lauren Arora Hutchinson: Unfortunately, the feeding troubles continued. 35 00:02:17,265 --> 00:02:19,860 Evan Shulman: And this went on. This went on for almost 10-11 36 00:02:19,860 --> 00:02:24,540 days, and every night was difficult, because we'd wake up 37 00:02:24,540 --> 00:02:29,970 to feed him. Feeds were taking half hour, 45 minutes, an hour, 38 00:02:29,970 --> 00:02:32,910 sometimes. Sometimes an hour and a half, just to get him to take 39 00:02:32,910 --> 00:02:40,410 down 15 or 20 mls of milk. So he was, he was expending so much 40 00:02:40,410 --> 00:02:45,225 energy to feed that he was falling asleep during the feed, 41 00:02:45,225 --> 00:02:49,815 and we said something is clearly wrong. Like this is… this cannot 42 00:02:49,815 --> 00:02:53,175 be normal. We addressed these concerns with our pediatrician 43 00:02:53,175 --> 00:02:56,745 in the office. At one point, he kind of played it off as, oh, 44 00:02:56,745 --> 00:02:58,725 you're both medical professionals and probably a 45 00:02:58,725 --> 00:03:02,265 little hyper sensitive, and don't worry, just go home, he's 46 00:03:02,265 --> 00:03:05,310 going to feed. So, anyway, we said something is definitely not 47 00:03:05,310 --> 00:03:09,660 right, and we called the pediatrician's office, and the 48 00:03:09,660 --> 00:03:13,290 pediatrician, who we usually see was not in, and we saw a much 49 00:03:13,290 --> 00:03:18,480 more junior pediatrician in the office who spent, I would say, a 50 00:03:18,480 --> 00:03:22,680 good 30 minutes with Noah, held him, tried to feed him, didn't 51 00:03:22,680 --> 00:03:25,860 just listen to our story and send us out. He devoted a 52 00:03:25,860 --> 00:03:30,315 significant amount of time, and then told us he was concerned, 53 00:03:30,315 --> 00:03:34,095 said he wasn't quite sure what he's concerned about, and he 54 00:03:34,095 --> 00:03:38,355 said, “Go home if he's not feeding in the next hour or two, 55 00:03:38,355 --> 00:03:43,275 then you need to take him to the pediatric ER.” We went home, got 56 00:03:43,275 --> 00:03:47,145 a bag, and then went straight to the ER, and that was really when 57 00:03:47,145 --> 00:03:52,455 everything started to unfold. Um, sorry. 58 00:03:59,145 --> 00:04:00,960 Lauren Arora Hutchinson: What happened next would change their 59 00:04:00,960 --> 00:04:04,950 lives and turn them into accidental pioneers of genetic 60 00:04:04,950 --> 00:04:09,810 medicine. Over the next two episodes, we're bringing you the 61 00:04:09,810 --> 00:04:13,845 story of Evan and Kristelle. We'll retrace the steps of their 62 00:04:13,845 --> 00:04:18,585 heartbreaking journey, and hear how they navigated a series of 63 00:04:18,585 --> 00:04:22,755 scientific and ethical quandaries with no obvious 64 00:04:22,755 --> 00:04:28,185 answers. Along the way, their story takes unexpected turns and 65 00:04:28,185 --> 00:04:31,815 ventures into new scientific territory, more than we could 66 00:04:31,815 --> 00:04:36,750 cover in a single episode. Perhaps unsurprisingly, their 67

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00:04:36,750 --> 00:04:42,660 story deals with some difficult themes and challenging moments. 68 00:04:42,660 --> 00:04:47,460 Please take care while listening. I'm Lauren Arora 69 00:04:47,460 --> 00:04:52,440 Hutchinson, director of the iDeas Lab at the Johns Hopkins 70 00:04:52,440 --> 00:04:58,800 Berman Institute of Bioethics, and this is playing god? 71 00:04:58,800 --> 00:05:07,275 Evan Shulman: So, when we got there, he was pretty lethargic, 72 00:05:07,665 --> 00:05:12,165 and immediately they said that they were concerned and started 73 00:05:12,165 --> 00:05:16,725 doing a full panel of labs on him. We waited out through the 74 00:05:16,725 --> 00:05:20,685 night, we just stayed by his side, and then I think the next 75 00:05:20,685 --> 00:05:27,180 day was when the metabolic team came and saw him and they 76 00:05:27,180 --> 00:05:29,670 started to mention, for the first time, concern for 77 00:05:29,670 --> 00:05:31,830 mitochondrial disease. 78 00:05:31,830 --> 00:05:33,900 Lauren Arora Hutchinson: Mitochondria are like many 79 00:05:33,900 --> 00:05:38,550 little power plants in each of our cells. Throughout our body, 80 00:05:38,550 --> 00:05:42,570 they take nutrients and convert them into energy that cells use 81 00:05:42,570 --> 00:05:46,455 to multiply, divide, and regulate. The doctors worried 82 00:05:46,455 --> 00:05:50,085 that something might be wrong with these tiny power plants, 83 00:05:50,085 --> 00:05:54,015 that Noah could have been born with a small error in the DNA of 84 00:05:54,015 --> 00:05:58,125 his mitochondria, that this mutation could be the cause of 85 00:05:58,125 --> 00:06:02,505 Noah's problems, and that if it was, the prognosis could be 86 00:06:02,505 --> 00:06:08,355 dire. Receiving this news, they decided to transfer Noah to 87 00:06:08,400 --> 00:06:12,720 Mount Sinai in Manhattan, a hospital better equipped to help 88 00:06:12,720 --> 00:06:13,800 him. 89 00:06:13,800 --> 00:06:15,900 Evan Shulman: We got there probably around midnight. I 90 00:06:15,900 --> 00:06:20,490 mean, it was like… we had the biggest greeting by this huge 91 00:06:20,490 --> 00:06:25,590 team, like Noah was really swarmed by people, and we stayed 92 00:06:25,590 --> 00:06:30,810 with him there through the night, and they said it looks 93 00:06:30,810 --> 00:06:33,495 like for sure this is going to be a mitochondrial disease, and 94 00:06:33,495 --> 00:06:36,555 we need to wait for genetic testing. 95 00:06:36,555 --> 00:06:38,475 Lauren Arora Hutchinson: You might remember from biology 96 00:06:38,475 --> 00:06:42,285 class that most of your DNA is held in the nucleus of each 97 00:06:42,285 --> 00:06:46,755 cell. That's the genetic code that shapes our bodies and many 98 00:06:46,755 --> 00:06:51,315 of our traits, but all of your mitochondria also carry their 99 00:06:51,315 --> 00:06:56,370 own separate bits of DNA. That mitochondrial DNA isn’t the same 100 00:06:56,370 --> 00:07:00,600 as the rest of our DNA. It doesn’t determine or shape most 101 00:07:00,600 --> 00:07:03,840 of who we are, but it is essential for how our cells 102 00:07:03,840 --> 00:07:08,010 produce energy. And so when there’s a mutation in 103 00:07:08,010 --> 00:07:13,710 mitochondrial DNA, it can cause mitochondrial disease. That's 104 00:07:13,710 --> 00:07:18,885 what the doctors at Mount Sinai were testing. Noah stayed in the 105 00:07:18,885 --> 00:07:23,895 hospital for days, then weeks, as his parents waited for the 106 00:07:23,895 --> 00:07:26,295 results. 107 00:07:26,295 --> 00:07:30,375 Evan Shulman: He had a lot of difficulties. He had seizures. 108 00:07:30,375 --> 00:07:35,235 He ended up getting intubated. He had respiratory distress. 109 00:07:35,235 --> 00:07:38,685 Kristelle Shulman: Evan and I would sit right by his room, 110 00:07:38,685 --> 00:07:43,350 just alone, and like, how did we get here? What happened? You 111 00:07:43,350 --> 00:07:46,620 know, we'd come back to his room and just make sure that we, you 112 00:07:46,620 --> 00:07:50,010 know, wipe our tears and make sure that we, that he hears us, 113 00:07:50,010 --> 00:07:56,580 and he and I, and when we know that he knows we're there, it's 114 00:07:56,580 --> 00:08:01,020 just like that room was surrounded by his like essence, 115 00:08:01,020 --> 00:08:01,530 you know. 116 00:08:04,590 --> 00:08:07,935 Evan Shulman: It took about 30 days from the date of admission 117 00:08:07,935 --> 00:08:13,095 to get back the mitochondrial panel, and the team sat down 118 00:08:13,095 --> 00:08:18,915 with us and told us that Noah has mitochondrial disease 119 00:08:18,915 --> 00:08:25,005 confirmed, and that he has 100% mutation load, which also known 120 00:08:25,005 --> 00:08:31,320 as homoplasmy, meaning all his cells are affected by it. 121 00:08:31,320 --> 00:08:33,210 Lauren Arora Hutchinson: Not everyone with mitochondrial 122 00:08:33,210 --> 00:08:38,220 disease is affected in the same way. The human body is made up 123 00:08:38,220 --> 00:08:42,210 of trillions of cells, and every cell contains hundreds, 124 00:08:42,210 --> 00:08:46,410 sometimes thousands of mitochondria, each with its own 125 00:08:46,410 --> 00:08:51,525 genetic code. Some people have a mix of healthy and mutated 126 00:08:51,525 --> 00:08:56,955 mitochondrial DNA. That's called heteroplasmy, but Noah's test 127 00:08:56,955 --> 00:09:02,295 showed homoplasmy. 100% of his mitochondria carried the 128 00:09:02,295 --> 00:09:09,195 mutation. Doctors refer to this percentage as mutation load, and 129 00:09:09,195 --> 00:09:11,805 Noah's was the highest it could possibly be. 130 00:09:11,805 --> 00:09:17,580 Kristelle Shulman: You know, sitting in that family room, and 131 00:09:17,580 --> 00:09:20,580 just, you know, we were surrounded by fellows and 132 00:09:20,580 --> 00:09:25,260 doctors and attendings, just the two of us sitting like this, and 133

00:09:25,320 --> 00:09:26,940 you know, holding each other's hands. 134 00:09:26,940 --> 00:09:33,120 Lauren Arora Hutchinson: People meet devastating news in 135 00:09:33,120 --> 00:09:41,625 different ways. Some turn inward. Some lean on family. 136 00:09:41,625 --> 00:09:46,785 Some focus on simply getting through each hour. For Kristelle 137 00:09:46,785 --> 00:09:51,465 and Evan, even in the midst of their shock, there was a sense 138 00:09:51,465 --> 00:09:56,925 of purpose, an instinct to do everything they could for Noah. 139 00:09:56,925 --> 00:10:01,470 Evan Shulman: So, while Noah was sick in the hospital, Kristelle 140 00:10:01,470 --> 00:10:06,120 and I sort of took on different roles. She was obviously Noah's 141 00:10:06,120 --> 00:10:11,550 mom and was there for, you know, the best compassion that she 142 00:10:11,550 --> 00:10:17,100 could ever give her son, and my role was figuring out how are we 143 00:10:17,100 --> 00:10:20,250 gonna make sure that Noah's getting the best care possible 144 00:10:20,250 --> 00:10:25,575 at the same time. So, I did a PubMed search, which searches 145 00:10:25,575 --> 00:10:29,385 all medical journals, and I searched for the specific 146 00:10:29,385 --> 00:10:35,025 mutation that Noah has, and I emailed every author on every 147 00:10:35,025 --> 00:10:40,155 paper that I could get a hold of… had a tremendous response, 148 00:10:40,155 --> 00:10:43,035 almost everybody wrote back to me whether they had any 149 00:10:43,035 --> 00:10:50,010 information to provide or not. And in particular, Newcastle 150 00:10:50,010 --> 00:10:54,510 University in England wrote back, and it turns out Newcastle 151 00:10:54,510 --> 00:10:58,200 had a family with the exact same mutation that they've been 152 00:10:58,200 --> 00:11:03,540 following. They, they asked us what they were doing for Noah. 153 00:11:03,540 --> 00:11:07,680 We told them, and sadly the only treatment was supportive care, 154 00:11:08,415 --> 00:11:13,455 and they assured us that, you know, what was being done is the 155 00:11:13,455 --> 00:11:17,115 best that can be done. 156 00:11:17,115 --> 00:11:19,155 Lauren Arora Hutchinson: For Evan and Kristelle, it was 157 00:11:19,155 --> 00:11:23,385 confirmation that Noah's life couldn't be saved, only made 158 00:11:23,385 --> 00:11:24,915 more comfortable. 159 00:11:24,915 --> 00:11:30,375 Kristelle Shulman: Having our son just, you know, laying in 160 00:11:30,375 --> 00:11:37,770 that incubator, sorry, like really just holding on to his 161 00:11:37,770 --> 00:11:45,540 dear life, you know, and I wasn't ready to let him go. You 162 00:11:45,540 --> 00:11:52,260 know, we weren't ready to let him go. 163 00:11:52,260 --> 00:11:56,415 Evan Shulman: Noah spent more than two months in the NICU, 164 00:11:56,415 --> 00:12:01,605 like that became his home, and we were very fortunate. The team 165 00:12:01,605 --> 00:12:05,115 taking care of him, and the nurses, they were

his family, 166 00:12:05,115 --> 00:12:07,845 the things that they saw him go through, and we saw him go 167 00:12:07,845 --> 00:12:12,825 through. I mean, how do you, how do you, why would this happen to 168 00:12:12,825 --> 00:12:20,385 a baby? There's really no explanation. 169 00:12:20,385 --> 00:12:23,820 Kristelle Shulman: He had like these two episodes of like 170 00:12:23,820 --> 00:12:31,950 cardiac arrest, and like the first one I like yelled out from 171 00:12:31,950 --> 00:12:37,080 outside, and I said, I'm not ready to let you go yet. Don't 172 00:12:37,080 --> 00:12:45,375 go, and he didn't go, and then I think that the last time, the 173 00:12:45,375 --> 00:12:50,865 last one, we were actually able to say goodbye, like I felt like 174 00:12:50,865 --> 00:12:56,505 I was able to say I need you to rest now. I don't want you to 175 00:12:56,505 --> 00:13:04,065 suffer anymore. No one, babies, any humans, any one should ever 176 00:13:04,515 --> 00:13:05,520 go through this. 177 00:13:10,560 --> 00:13:15,030 Evan Shulman: Noah passed away at just shy of three months old. 178 00:13:15,030 --> 00:13:24,510 Lauren Arora Hutchinson: It was a terrible end to a 179 00:13:24,510 --> 00:13:29,235 heartbreaking three month ordeal, but it was also the 180 00:13:29,235 --> 00:13:34,485 start of a much longer odyssey, because when Noah was tested and 181 00:13:34,485 --> 00:13:39,375 diagnosed with mitochondrial disease, the doctors also tested 182 00:13:39,375 --> 00:13:47,115 Kristelle, and the results there weren't good news either. 183 00:13:47,115 --> 00:13:53,010 Kristelle Shulman: I had about 75% of the dysfunction, the 184 00:13:53,010 --> 00:13:57,630 mitochondrial dysfunction, and so I had to also worry about my 185 00:13:57,630 --> 00:14:00,540 health as well. 186 00:14:00,540 --> 00:14:02,970 Evan Shulman: And, sort of in the same breath, they said you 187 00:14:02,970 --> 00:14:11,040 guys cannot have healthy biologic children. 188 00:14:11,040 --> 00:14:13,995 Lauren Arora Hutchinson: You see, while the nuclear DNA that 189 00:14:13,995 --> 00:14:19,455 shapes who we are is inherited from both parents... 190 00:14:19,455 --> 00:14:21,465 Marni Falk: All of our mitochondria comes through our 191 00:14:21,465 --> 00:14:24,345 mother through the egg. 192 00:14:24,345 --> 00:14:26,895 Lauren Arora Hutchinson: This is Dr. Marni Falk, a clinical 193 00:14:26,895 --> 00:14:32,085 geneticist and pediatrician. She runs the mitochondrial medicine 194 00:14:32,085 --> 00:14:35,295 frontier program at the Children's Hospital of 195 00:14:35,295 --> 00:14:36,105 Philadelphia. 196 00:14:36,105 --> 00:14:40,260 Marni Falk: When somebody's a carrier of a mitochondrial DNA 197 00:14:40,260 --> 00:14:45,120 mutation, the question becomes: do all of her eggs have this? 198 00:14:45,120 --> 00:14:50,610 Will every child get this? If you had jelly beans in a jar, 199 00:14:50,610 --> 00:14:54,330 like some were red and some were green, and you put your hand in, 200 00:14:54,330 --> 00:14:57,930 how many red would you pull out? Well, it's very hard to predict, 201 00:14:57,975 --> 00:15:01,065 right? And you'd probably pull out a different percentage each 202 00:15:01,065 --> 00:15:04,005 time, and that's what happens with these mutations. 203 00:15:05,385 --> 00:15:08,235 Evan Shulman: And... 204 00:15:08,210 --> 00:15:10,700 Kristelle Shulman: Yeah, that was um... sorry. 205 00:15:10,700 --> 00:15:11,090 Evan Shulman: Kristelle - 206 00:15:11,420 --> 00:15:15,410 Kristelle Shulman: Do you mind? It's, you know, it was 207 00:15:15,410 --> 00:15:20,180 heartbreaking because we had a vision, you know, like of our 208 00:15:20,180 --> 00:15:27,050 family and of a big family. And so, you know, when we heard 209 00:15:27,050 --> 00:15:35,015 that, we thought that was like a death sentence. We were told 210 00:15:35,015 --> 00:15:39,515 that that was it, you know, we could either do adoption or egg 211 00:15:39,515 --> 00:15:44,765 donation, but… so that was a really tough thing to swallow. 212 00:15:45,095 --> 00:15:46,265 It was hard. 213 00:15:48,495 --> 00:15:50,445 Lauren Arora Hutchinson: But they weren't ready to give up on 214 00:15:50,445 --> 00:15:54,285 their dream of having biologically related children, 215 00:15:54,285 --> 00:15:59,025 and so the Shulmans wrote back to the people in Newcastle. 216 00:15:59,025 --> 00:16:01,485 Evan Shulman: I emailed them back, and I said, what are... 217 00:16:01,485 --> 00:16:06,135 what other options would we have in the future for other children 218 00:16:06,135 --> 00:16:11,220 when we first heard about mitochondrial replacement 219 00:16:11,220 --> 00:16:15,840 therapy, or MRT. 220 00:16:15,840 --> 00:16:18,750 Lauren Arora Hutchinson: MRT is a fascinating science fiction 221 00:16:18,750 --> 00:16:21,510 sounding technology. 222 00:16:21,510 --> 00:16:23,940 Marni Falk: Colloquially, people refer to it as a three parent 223 00:16:23,940 --> 00:16:27,510 baby, but the proper term is mitochondrial replacement 224 00:16:27,510 --> 00:16:29,160 technology. 225 00:16:29,160 --> 00:16:31,980 Jeffrey Kahn: You're combining genetic material from two women 226 00:16:32,430 --> 00:16:36,705 to make one egg, which is then fertilized by one sperm. 227 00:16:36,705 --> 00:16:39,525 Lauren Arora Hutchinson: Jeffrey Kahn, our resident bioethicist 228 00:16:39,525 --> 00:16:42,795 and director of the Johns Hopkins Berman Institute of 229 00:16:42,795 --> 00:16:47,115 Bioethics. And he says a technology like this could work 230 00:16:47,115 --> 00:16:50,745 well in cases like the Shulmans, because of how our cells are 231 00:16:50,745 --> 00:16:55,440 structured and how mitochondrial DNA is passed from mothers to 232 00:16:55,440 --> 00:16:57,030 their children. 233 00:16:57,030 --> 00:17:00,000 Jeffrey Kahn: Mitochondria are in the cytoplasm of a cell, so 234 00:17:00,000 --> 00:17:03,360 think

of that as the white part of a chicken egg. If you don't 235 00:17:03,360 --> 00:17:06,720 want that white part to be passed on, you need to figure 236 00:17:06,720 --> 00:17:09,840 out how to get the yolk part, where the nucleus is, where the 237 00:17:09,840 --> 00:17:15,060 DNA that makes us who we are resides out of the egg of a 238 00:17:15,060 --> 00:17:18,870 woman who we know carries mitochondrial DNA disease. So, 239 00:17:18,870 --> 00:17:22,455 think of it as plucking out the yellow and putting it into the 240 00:17:22,455 --> 00:17:27,555 white part of a chicken egg that has had its yellow part removed. 241 00:17:27,555 --> 00:17:32,055 Marni Falk: And you basically do a swap. You take out the nucleus 242 00:17:32,055 --> 00:17:35,085 from the intended parents, and you put it into the cell that 243 00:17:35,085 --> 00:17:39,165 has healthy mitochondria from the donor. 244 00:17:39,165 --> 00:17:44,250 Jeffrey Kahn: MRT seems to offer a way to eliminate the risk of 245 00:17:44,250 --> 00:17:48,330 mitochondrial DNA disease, and it certainly holds out the 246 00:17:48,330 --> 00:17:51,870 prospect of that in a way that other options at that time 247 00:17:51,870 --> 00:17:56,010 certainly did not. 248 00:17:56,010 --> 00:17:58,620 Lauren Arora Hutchinson: The science behind MRT first began 249 00:17:58,620 --> 00:18:04,140 to take shape in the early 2000s. Over the next decade, 250 00:18:04,170 --> 00:18:07,365 researchers showed that these techniques could work, first in 251 00:18:07,365 --> 00:18:12,105 animals and then in human embryos, raising the possibility 252 00:18:12,105 --> 00:18:17,445 of preventing mitochondrial disease. But MRT would also 253 00:18:17,445 --> 00:18:21,615 raise profound ethical questions about altering the genetics of 254 00:18:21,615 --> 00:18:24,045 children who might be born this way. 255 00:18:27,585 --> 00:18:29,430 Jeffrey Kahn: You're changing the genetic makeup of the 256 00:18:29,430 --> 00:18:39,210 mitochondria in that individual. It's a heritable genetic change. 257 00:18:39,210 --> 00:18:42,270 Lauren Arora Hutchinson: Heritable, meaning the genetic 258 00:18:42,270 --> 00:18:46,320 changes created through MRT can be passed down to future 259 00:18:46,320 --> 00:18:53,655 generations. This creates an ethical conundrum. How should we 260 00:18:53,655 --> 00:18:58,005 think about the risks and consequences, not only for the 261 00:18:58,005 --> 00:19:02,835 baby born through this process, but that baby's future children, 262 00:19:03,915 --> 00:19:13,770 or their children's children? Around the world, policymakers 263 00:19:13,770 --> 00:19:19,380 began grappling with MRT. In the United Kingdom, the government 264 00:19:19,380 --> 00:19:23,640 launched a formal process, including public consultation, 265 00:19:23,640 --> 00:19:27,840 to consider whether, and how, to allow the procedure on a case by 266 00:19:27,840 --> 00:19:35,280 case basis. In the United States, federal agencies were 267 00:19:35,325 --> 00:19:39,195 also beginning to weigh the scientific and ethical questions 268 00:19:39,195 --> 00:19:48,075 raised by MRT. The U.S. Food and Drug Administration, or FDA, 269 00:19:48,075 --> 00:19:52,485 asked the U.S. National Academy of Medicine to convene an expert 270 00:19:52,485 --> 00:19:57,555 committee in 2015, chaired by our very own, Jeffrey Kahn. 271 00:19:57,555 --> 00:20:01,320 Jeffrey Kahn: And so the first question we wrestled with is, is 272 00:20:01,320 --> 00:20:04,500 it ethically acceptable to create that kind of heritable 273 00:20:04,500 --> 00:20:07,770 genetic change which would be passed on to future generations? 274 00:20:11,010 --> 00:20:13,080 Lauren Arora Hutchinson: The expert committee spent a year 275 00:20:13,080 --> 00:20:17,220 reviewing the latest science and debating the ethics of such a 276 00:20:17,220 --> 00:20:23,325 novel reproductive technology. They heard testimony from 277 00:20:23,325 --> 00:20:27,705 scientists, physicians, and, importantly, affected families. 278 00:20:30,195 --> 00:20:35,025 In the end, they issued a report with recommendations to the FDA 279 00:20:35,055 --> 00:20:39,165 about how to move forward. 280 00:20:39,210 --> 00:20:42,090 Jeffrey Kahn: In the case of mitochondria, that passage only 281 00:20:42,090 --> 00:20:46,560 happens through the maternal line from mothers to their 282 00:20:46,560 --> 00:20:52,050 offspring, and so if a daughter were created this way, then she 283 00:20:52,050 --> 00:20:56,730 would pass on that mitochondrial DNA change to her offspring, but 284 00:20:56,730 --> 00:21:04,095 if a male, a boy was born, he would not. So, if you don't 285 00:21:04,095 --> 00:21:07,425 implant female embryos, there's no way of passing on the 286 00:21:07,425 --> 00:21:10,965 heritable genetic change to future offspring. So, that was 287 00:21:10,965 --> 00:21:15,495 one way for us to avoid the concerns about heritable genetic 288 00:21:15,495 --> 00:21:19,965 change through generations has its own ethics concerns when 289 00:21:19,965 --> 00:21:23,235 you're talking about sex selection, but we thought that 290 00:21:23,235 --> 00:21:26,610 was a reasonable trade off, certainly for the purpose of FDA 291 00:21:26,790 --> 00:21:28,260 review in a clinical trial. 292 00:21:39,310 --> 00:21:42,430 Lauren Arora Hutchinson: But in the end, the agency’s hands were 293 00:21:42,430 --> 00:21:47,410 tied. The U.S. government took a different position. 294 00:21:48,340 --> 00:21:50,770 Archive: If there is no further debate, the member from Alabama, 295 00:21:50,770 --> 00:21:52,555 Lauren Arora Hutchinson: while Jeffrey Kahn and the other 296 00:21:52,555 --> 00:21:55,465 committee members were in the meeting room to deliver their 297 00:21:55,465 --> 00:21:57,805 recommendations to the FDA. 298 00:21:57,840 --> 00:22:00,630 Archive: Thank you, Madam Chair. The bottom line is the science 299

00:22:00,630 --> 00:22:04,230 and the bioethics need to catch up with potential disasters that 300 00:22:04,230 --> 00:22:06,120 could occur. 301 00:22:07,170 --> 00:22:11,580 Jeffrey Kahn: We were told that the budget bill, the last budget 302 00:22:11,580 --> 00:22:15,570 bill in the Obama administration included a rider restricting the 303 00:22:15,570 --> 00:22:20,325 FDA from receiving any applications for licensure of a 304 00:22:20,325 --> 00:22:25,935 technology that modified a human embryo genetically or led to any 305 00:22:25,935 --> 00:22:28,215 heritable genetic change. 306 00:22:28,215 --> 00:22:30,705 Archive: Question is on the amendment offered by the member 307 00:22:30,705 --> 00:22:35,535 from Alabama, all those in favor say aye. Aye. Those opposed, say 308 00:22:35,535 --> 00:22:39,135 no. No. In the opinion of the chair, the ayes have it, and the 309 00:22:39,135 --> 00:22:40,365 amendment is adopted. 310 00:22:43,140 --> 00:22:46,380 Jeffrey Kahn: And therefore, it would mean they would be 311 00:22:46,380 --> 00:23:03,630 prohibited from receiving license applications to do MRT. 312 00:23:26,055 --> 00:23:28,125 Lauren Arora Hutchinson: Next time on playing god? 313 00:23:29,370 --> 00:23:31,770 Evan Shulman: We have to figure out a way to do MRT. 314 00:23:31,770 --> 00:23:34,110 Kristelle Shulman: I wanted to keep going. I wasn't going to 315 00:23:34,110 --> 00:23:42,120 stop. I knew once I held him, I knew once I had him, like it's 316 00:23:42,120 --> 00:23:48,990 just something that I don't want to miss out on. 317 00:23:48,990 --> 00:23:50,820 Lauren Arora Hutchinson: Many thanks to our guests in this 318 00:23:50,820 --> 00:23:55,815 episode. To Kristelle and Evan Shulman for sharing their story 319 00:23:55,815 --> 00:24:01,785 with us, and to Jeffrey Kahn and Marni Falk. playing god? is a 320 00:24:01,785 --> 00:24:04,935 production of the Dracopoulos-Bloomberg iDeas Lab 321 00:24:04,935 --> 00:24:09,465 at the Johns Hopkins Berman Institute of Bioethics, made in 322 00:24:09,465 --> 00:24:13,845 association with Sea Salt and Mango Productions. This 323 00:24:13,845 --> 00:24:17,730 episode was produced by Redzi Bernard, with help from Brian 324 00:24:17,730 --> 00:24:22,800 Ricker and Lyric Bowditch. Our Executive Editor is Tony 325 00:24:22,800 --> 00:24:28,290 Phillips. Music and sound design by Alexander Overington. 326 00:24:28,290 --> 00:24:33,120 iDeas Lab Producer, Lyric Bowditch. Researcher, Brian 327 00:24:33,120 --> 00:24:38,475 Ricker. Story Editor, Simon Adler. Show art by Barry 328 00:24:38,475 --> 00:24:43,515 Pousman and Shawn Carney. Our Production Coordinators are Leah 329 00:24:43,515 --> 00:24:48,345 Lord and Susan Snead. Our Executive Producers are Jeffrey 330 00:24:48,345 --> 00:24:52,845 Kahn and Anna Mastroianni. I’m Lauren Arora Hutchinson, 331 00:24:53,805 --> 00:24:59,055 host and Managing Editor. Come back next week for more 332 00:24:59,055 --> 00:25:01,155 playing god?

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