WEBVTT 1 00:00:00.040 --> 00:00:02.799 And welcome to Cindy Stumpo Tough his nails on WBZ 2 00:00:03.120 --> 00:00:06.759 News Radio ten thirty And I'm here tonight with who. 3 00:00:07.400 --> 00:00:09.480 I have to pull this over? And Sam Samantha. 4 00:00:09.919 --> 00:00:11.839 Okay, why are we doing it that way today? 5 00:00:11.880 --> 00:00:12.599 There's no option? 6 00:00:13.279 --> 00:00:16.480 Okay, this is okay, this is what's going on here. Okay, 7 00:00:16.480 --> 00:00:19.600 I'm gonna get I'm trying to get myself situated. We 8 00:00:19.640 --> 00:00:21.440 had nice face care. Okay, we're back. 9 00:00:21.480 --> 00:00:22.719 Are you guys from mother daughter? 10 00:00:23.120 --> 00:00:28.280 Yes, yes, she's the mother daughter. I switched the roles. Okay, 11 00:00:28.640 --> 00:00:31.280 I'm going to now put all the pressure on her. Okay. 12 00:00:31.280 --> 00:00:32.399 Who's in the studio tonight. 13 00:00:32.799 --> 00:00:37.320 Sure. My name is Courtney Dion. I'm from Boston, mass. 14 00:00:36.960 --> 00:00:39.759 And I am the co founder, along with my husband, 15 00:00:39.799 --> 00:00:42.439 of the Dean Foundation for Children with the Rare Diseases. 16 00:00:42.600 --> 00:00:47.000 We are a nonprofit focused on raising funds and awareness 17 00:00:47.079 --> 00:00:52.439 for pediatric ultra rare diseases. After the diagnosis of two 18 00:00:52.640 --> 00:00:56.960 of our children with an ultrawar form of muscular distripty. 19 00:00:56.320 --> 00:01:00.920 So two children and they don't it's a genetic or 20 00:01:00.960 --> 00:01:03.280 it just happens, or it is. 21 00:01:03.359 --> 00:01:06.680 So we have three kids and no family history of 22 00:01:06.680 --> 00:01:08.840 this at all. But it is what they call an 23 00:01:08.879 --> 00:01:11.799 autosomal recessive gene, so meaning I can carry it in 24 00:01:11.840 --> 00:01:14.239 mind family for years, and my husband carried in his 25 00:01:14.319 --> 00:01:15.760 family for years, and we just. 26 00:01:16.079 --> 00:01:17.519 Found the wrong person, you know. 27 00:01:17.760 --> 00:01:20.159 And each one of our children had a one and 28 00:01:20.239 --> 00:01:22.480 four chance of inheriting this disease. 29 00:01:22.560 --> 00:01:24.159 So two of our three kids have it. 30 00:01:25.159 --> 00:01:28.040 And they said, you after the first one, obviously explain 31 00:01:28.120 --> 00:01:29.680 that to me. So the first one you have. 32 00:01:29.799 --> 00:01:32.359 So I'll kind of go through the diagnosis. 33 00:01:32.359 --> 00:01:35.760 But it's a childhood onset, so it's not like something 34 00:01:35.760 --> 00:01:36.840 that they screen at birth. 35 00:01:36.959 --> 00:01:39.040 It's not that's something that they see on ultrasounds. 36 00:01:39.040 --> 00:01:41.359 It's not something that he shows up enough blood tests 37 00:01:41.599 --> 00:01:42.840 unless you're looking for it. 38 00:01:43.480 --> 00:01:45.400 And it's so ultra rare that it's not on like 39 00:01:45.439 --> 00:01:49.079 the newborn screening panel or anything like that. So my 40 00:01:49.200 --> 00:01:49.760 son was. 41 00:01:49.719 --> 00:01:52.719 Diagnosed in the summer, at the end of the summer 42 00:01:52.760 --> 00:01:56.120 in twenty twenty two, and you know, after some of 43 00:01:56.319 --> 00:01:59.920 some changes in his strength and his ability. 44 00:01:59.480 --> 00:02:01.560 I thing was wrong with him. 45 00:02:02.280 --> 00:02:04.719 I have a background, I as a registered there, so 46 00:02:04.760 --> 00:02:07.159 I kind of just remembered like, oh, you know, some 47 00:02:07.200 --> 00:02:11.639 of these childhood onset diseases happened when you're like six 48 00:02:11.759 --> 00:02:15.639 or seven, not at birth, you know. So we got 49 00:02:15.680 --> 00:02:17.680 him tested and it turned out that he had this 50 00:02:17.800 --> 00:02:21.719 ultrawear form of muscular dystrophe. And through my research, you know, 51 00:02:21.800 --> 00:02:25.159 once we learned that it actually could affect males and 52 00:02:25.280 --> 00:02:30.159 females unlike some other forms of muscular dystrophe. My husband 53 00:02:30.159 --> 00:02:33.680 and I kind of are kind of saw a little 54 00:02:33.680 --> 00:02:35.680 bit of the symptoms that the early symptoms that we 55 00:02:35.680 --> 00:02:38.080 had missed with him in my daughter who was six 56 00:02:38.120 --> 00:02:41.080 at the time, So we got her tested as well, 57 00:02:41.159 --> 00:02:42.319 and she had the same. 58 00:02:43.000 --> 00:02:45.639 So when she was born, you wouldn't have genetically tested 59 00:02:45.680 --> 00:02:46.120 her for this. 60 00:02:47.439 --> 00:02:48.000 We didn't know. 61 00:02:48.240 --> 00:02:50.400 Yeah, we could have, we could have, but we wouldn't 62 00:02:50.439 --> 00:02:52.159 have known. We didn't know until. 63 00:02:51.879 --> 00:02:54.199 My son was nine, Okay, got it all. 64 00:02:54.159 --> 00:02:56.240 Right, until the symptoms started showing up. 65 00:02:56.520 --> 00:02:58.919 See that's why I say we should do genetic testing 66 00:02:58.960 --> 00:03:01.039 with each other before we marry and have children and 67 00:03:01.039 --> 00:03:01.560 bring children. 68 00:03:01.639 --> 00:03:04.199 This way, I know, it's like if we knew this, 69 00:03:04.479 --> 00:03:05.319 you know, we did. 70 00:03:05.800 --> 00:03:08.719 That's that's the scary part is like, really, with these 71 00:03:08.759 --> 00:03:12.719 genetic diseases, you know, people these live in your family 72 00:03:12.840 --> 00:03:15.560 lineage for years and years and years unknown. 73 00:03:15.919 --> 00:03:18.960 So not your your husband, not your mom and dad, 74 00:03:19.080 --> 00:03:20.240 not his mom and dad. 75 00:03:21.199 --> 00:03:22.919 No, no family history of this. 76 00:03:24.039 --> 00:03:27.919 Really, what were the early signs that you were seeing? 77 00:03:27.919 --> 00:03:28.000 No? 78 00:03:28.039 --> 00:03:29.800 But I want to how you know it's a genetic 79 00:03:29.879 --> 00:03:31.800 if you where do you trace it back to? 80 00:03:32.039 --> 00:03:36.240 More importantly, so, we haven't done like a twenty three 81 00:03:36.280 --> 00:03:39.199 of me or anything like that on our ancestors. 82 00:03:39.680 --> 00:03:41.520 Do you know you could? Do you know anything about 83 00:03:41.520 --> 00:03:43.719 your great grandparents? 84 00:03:44.080 --> 00:03:44.120 Like? 85 00:03:44.199 --> 00:03:45.800 Yeah, and that's the hard thing too, Like we're all 86 00:03:45.840 --> 00:03:48.719 of this age where like your great grandparents, great great 87 00:03:48.719 --> 00:03:51.439 grandparents are immigrants, you know, so like the family history 88 00:03:51.479 --> 00:03:55.240 is not like one hundred percent you know, documented, It's 89 00:03:55.280 --> 00:03:57.800 like who knows, someone may maybe way back. 90 00:03:57.680 --> 00:04:00.400 In Ireland had this disease and they. 91 00:04:00.439 --> 00:04:04.879 Just see you. That's what We're kind of lucky because 92 00:04:04.919 --> 00:04:09.000 I've known up to my great great grandparents. On one side, 93 00:04:09.240 --> 00:04:13.080 I had my great great grandparents. Sammy goes as far 94 00:04:13.199 --> 00:04:17.079 up as her believe or not, till she was six 95 00:04:17.240 --> 00:04:20.920 or seven. Her great great grandfather too, which would have 96 00:04:20.920 --> 00:04:25.519 been papa's father. Do you understand my father, Yes, you're 97 00:04:25.519 --> 00:04:29.240 a papa. And then his father's alive, Yeah, that would 98 00:04:29.279 --> 00:04:30.040 be your great grandfather. 99 00:04:30.079 --> 00:04:30.839 I don't remember him. 100 00:04:30.839 --> 00:04:33.800 Though, right, Papa Frank. But my kids were born and 101 00:04:33.800 --> 00:04:35.839 I was born and my ex husband was born with 102 00:04:36.839 --> 00:04:38.600 we all, what's the chances we all have this? 103 00:04:38.839 --> 00:04:40.199 Well, your side but not Dad's. 104 00:04:40.759 --> 00:04:41.639 Your father has a too. 105 00:04:42.079 --> 00:04:44.160 Yeah, but I'm saying I don't know Dad's great. 106 00:04:44.000 --> 00:04:47.839 Boring past that conversation. So we are they're born with 107 00:04:48.360 --> 00:04:50.319 what I'm born with, and what Joe's born with is 108 00:04:50.680 --> 00:04:55.000 what's it called lip protein? Lipoprotein A, Like, what's the 109 00:04:55.120 --> 00:04:58.439 chances that I knew when I married him he was 110 00:04:58.480 --> 00:04:59.959 going to have it and I was going to have it? 111 00:05:00.439 --> 00:05:02.360 And now both of our kids have it, right, So 112 00:05:03.000 --> 00:05:04.319 they're cholesterol exactly, So. 113 00:05:04.439 --> 00:05:06.800 That's the same, same idea. 114 00:05:06.879 --> 00:05:08.680 But it was kind of funny because when she was 115 00:05:08.759 --> 00:05:11.399 like I'd say eight or nine or ten around there, 116 00:05:11.399 --> 00:05:14.199 twelve high school. High school is when I had high cholestero. 117 00:05:14.279 --> 00:05:17.240 She had highcholesterol, Like why she had high cholesterol? Never 118 00:05:17.279 --> 00:05:20.600 had it again? It balanced, but she went through a 119 00:05:20.600 --> 00:05:24.319 period no medication, but that was probably from her having 120 00:05:24.920 --> 00:05:27.920 but they never checked for it. It's just crazy how 121 00:05:28.319 --> 00:05:30.120 you find out so much now about. 122 00:05:29.959 --> 00:05:31.759 You never had a heart attack, He probably wouldn't have 123 00:05:31.839 --> 00:05:32.439 checked for whatever. 124 00:05:32.800 --> 00:05:35.439 You have never checked, but he had a he had 125 00:05:35.439 --> 00:05:38.040 a widows that lived through it. But anyways, we'll go 126 00:05:38.120 --> 00:05:41.040 back genetics. Just if we knew, yeah, if we. 127 00:05:41.040 --> 00:05:45.759 Knew what we knew, If we knew, I know we didn't. 128 00:05:45.680 --> 00:05:48.120 So he's got to roll it out. Okay, So we 129 00:05:49.319 --> 00:05:53.000 what tell me what you have been doing since both 130 00:05:53.120 --> 00:05:56.639 your children came down. You have this foundation. I want 131 00:05:56.639 --> 00:06:00.000 my listeners to hear. You could have just been a 132 00:06:00.160 --> 00:06:02.959 yeah mom and said, okay, well we have two kids 133 00:06:02.959 --> 00:06:05.399 with MS and we're going to live our lives and 134 00:06:05.439 --> 00:06:09.639 everybody's gonna. 135 00:06:10.399 --> 00:06:13.199 So you know, after the diagnoses of two of our kids, 136 00:06:13.240 --> 00:06:16.560 we went through the we went through the stages of 137 00:06:16.600 --> 00:06:22.040 grief absolutely, like denialing, the bargaining, depression, acceptance, over and 138 00:06:22.040 --> 00:06:27.079 over again, and we kind of through our research. You know, 139 00:06:27.160 --> 00:06:31.240 there is some science. There's some research for a treatment. 140 00:06:31.759 --> 00:06:33.959 The treatment for something like this would actually be a 141 00:06:34.040 --> 00:06:37.600 gene therapy treatment where they go and replace them the 142 00:06:37.759 --> 00:06:39.519 mutated gene with the healthy gene. 143 00:06:40.600 --> 00:06:41.759 So there is some science. 144 00:06:42.439 --> 00:06:46.120 Luckily, the science has come so far in twenty years 145 00:06:46.560 --> 00:06:48.199 whereas if this was twenty years ago that it would 146 00:06:48.199 --> 00:06:50.240 be like literally nothing on the internet. You couldn't even 147 00:06:50.279 --> 00:06:50.839 google it. 148 00:06:51.199 --> 00:06:54.040 So right when that happened, we kind of we dove in. 149 00:06:54.800 --> 00:06:56.240 We we you know. 150 00:06:56.240 --> 00:06:58.279 We kind of harnessed our grief and we were like, no, 151 00:06:58.480 --> 00:07:00.920 we need to do something about this. We can't just 152 00:07:00.959 --> 00:07:04.160 sit and wait and let someone else try to figure 153 00:07:04.160 --> 00:07:06.800 this out, you know, if they were going to do 154 00:07:06.800 --> 00:07:09.959 what they would have done already. So we really we 155 00:07:10.040 --> 00:07:12.519 really kind of rallied our community. Our community was all 156 00:07:12.560 --> 00:07:13.720 help asking how can we help? 157 00:07:13.720 --> 00:07:15.120 How can we help? So we're like, you know what, 158 00:07:15.240 --> 00:07:16.319 let's do something about this. 159 00:07:17.199 --> 00:07:19.800 So that's when we decided, you know, three or four 160 00:07:19.839 --> 00:07:23.439 months after their diagnoses, that we were going to form 161 00:07:23.480 --> 00:07:25.639 a foundation. We were going to start raising some money, 162 00:07:25.759 --> 00:07:27.639 we were going to start raising awareness, and we were 163 00:07:27.639 --> 00:07:28.560 going to try to really. 164 00:07:28.399 --> 00:07:29.160 Make a change. 165 00:07:29.720 --> 00:07:31.639 How weird is this MS that they have? 166 00:07:33.240 --> 00:07:36.279 So it must do a districtee. It's ultra rare. 167 00:07:36.480 --> 00:07:39.639 So it's like less than five hundred in the United States, 168 00:07:40.720 --> 00:07:42.920 which is considered an ultraware disease. 169 00:07:43.920 --> 00:07:46.600 The numbers worldwide, don't cut off. 170 00:07:46.720 --> 00:07:47.920 What's that, I'm sorry say? 171 00:07:48.279 --> 00:07:51.839 The numbers worldwide are the same too, like ultraware at 172 00:07:51.839 --> 00:07:53.399 all continents. 173 00:07:53.439 --> 00:07:55.839 You know, when you think about MS, one name comes 174 00:07:55.920 --> 00:08:01.879 to mind, right, Labor Day weekend, Lewis, Yes, and we 175 00:08:01.920 --> 00:08:04.079 grew up at that. I grew up with that on TV, 176 00:08:04.279 --> 00:08:07.639 like we all grew up with that watching that two 177 00:08:07.720 --> 00:08:12.000 three days of raising money and yep, and who took. 178 00:08:11.800 --> 00:08:15.040 His was so I don't think they do it. They 179 00:08:15.040 --> 00:08:16.319 don't do a telethon anymore. 180 00:08:16.360 --> 00:08:20.720 But that was the original fundraising for the Muscular Dystrophe Association. 181 00:08:21.439 --> 00:08:23.680 And they, you know, they have made They've really changed 182 00:08:23.680 --> 00:08:29.040 the landscape in this whole area, like supporting research, finding 183 00:08:29.360 --> 00:08:34.519 finding treatments for it. The thing about muscular dystrophe is 184 00:08:34.559 --> 00:08:41.480 that there are over like forty some types. Our type 185 00:08:41.600 --> 00:08:45.279 is a rare form called limb gird or muscular dystrophe. 186 00:08:46.159 --> 00:08:49.799 So it's not the main one that like most or 187 00:08:49.799 --> 00:08:51.799 the more. It's not the most common one, the second 188 00:08:51.879 --> 00:08:52.679 most common one. 189 00:08:53.960 --> 00:08:56.159 Do me a favorite. Just hold that, thoughtful woman. We 190 00:08:56.240 --> 00:08:58.039 just got to go off to break I'm sitting stump 191 00:08:58.039 --> 00:09:00.120 when he listens to Tough as Nails on WB's you 192 00:09:00.159 --> 00:09:02.320 will be right back and welcome back to the Toughest Nails. 193 00:09:02.360 --> 00:09:04.720 I'm Cindy STUMPO. When you're in the studio tonight with who, 194 00:09:05.279 --> 00:09:10.639 Samantha and Courtney. Okay, Courtney, pick up where we left off. 195 00:09:10.639 --> 00:09:15.759 Go ahead, I'll stopped you. 196 00:09:15.080 --> 00:09:18.559 Well, you know, the science has come so far in 197 00:09:18.600 --> 00:09:20.480 the past twenty years, Like it really is remarkable. 198 00:09:20.480 --> 00:09:22.639 They're able to with gene therapy. 199 00:09:22.720 --> 00:09:27.840 They're able to, you know, give you a healthy gene 200 00:09:27.919 --> 00:09:29.720 and it goes in to where it needs to go 201 00:09:29.759 --> 00:09:31.600 in the body and replace it. 202 00:09:32.159 --> 00:09:34.679 So the good that's the good news that you know, 203 00:09:34.720 --> 00:09:35.639 it's twenty twenty five. 204 00:09:36.039 --> 00:09:41.759 Is that helping Is that helping children? I'm sorry, is 205 00:09:41.799 --> 00:09:43.679 that helping your children right now? 206 00:09:44.720 --> 00:09:46.799 So it will in the future, it's not there's not 207 00:09:46.840 --> 00:09:51.960 one right now. Well, we need it now exactly. So 208 00:09:52.080 --> 00:09:53.200 that's where we don't have time. 209 00:09:53.399 --> 00:09:56.039 Why we founded exactly So that is why we founded 210 00:09:56.039 --> 00:09:59.279 the Dean Foundation for Children with Great Diseases because seriously, 211 00:09:59.320 --> 00:10:03.039 this is an unders served community, diere unmet needs. Do 212 00:10:03.159 --> 00:10:06.080 these kids there are children, it's a pediatric disease. So 213 00:10:06.240 --> 00:10:08.600 these children are just sitting there waiting for a care. 214 00:10:08.720 --> 00:10:10.759 So that's why we really just dove in. 215 00:10:10.799 --> 00:10:12.240 We're like, you know what, the time is going to 216 00:10:12.279 --> 00:10:14.080 pass anyway, We're going to do something about it. 217 00:10:15.000 --> 00:10:18.279 Courtney, Can I ask you a personal question? Yes, did 218 00:10:18.320 --> 00:10:22.080 this bring you and your husband close together or pull 219 00:10:22.120 --> 00:10:24.720 you apart at the beginning and then bring you back together. 220 00:10:24.919 --> 00:10:30.799 Like how does a husband not just one but two children? 221 00:10:30.919 --> 00:10:34.120 I know, I know, it's like that's the thing. It's 222 00:10:34.440 --> 00:10:36.159 me and my husband kind of you know, it's tough. 223 00:10:36.240 --> 00:10:40.159 We're both under monumental stress. But at the end of 224 00:10:40.200 --> 00:10:43.840 the day, only he knows what I'm going through and 225 00:10:43.919 --> 00:10:46.480 vice for ourself. Only I know what he's going through. 226 00:10:46.799 --> 00:10:49.639 And I'm incredibly close with my family. I'm incredibly close 227 00:10:49.679 --> 00:10:52.080 with my sisters. He's incredibly close with his family, But like, 228 00:10:52.120 --> 00:10:53.799 at the end of the day, only he and. 229 00:10:53.720 --> 00:10:56.159 I know what this pain feels like. 230 00:10:57.600 --> 00:11:00.519 So while I never wanted to go into business with 231 00:11:00.600 --> 00:11:02.639 him or work with him in any capacity at all, 232 00:11:02.720 --> 00:11:04.039 you know, husband and wife. 233 00:11:03.879 --> 00:11:05.360 That's a I don't want to work with you. 234 00:11:06.120 --> 00:11:08.679 Working together on the foundation is definitely a little bit 235 00:11:08.679 --> 00:11:09.519 of a challenge. 236 00:11:09.200 --> 00:11:11.399 Because it's like, Okay, you do this, I do that. 237 00:11:11.919 --> 00:11:14.120 But at the end of the day, he. 238 00:11:14.120 --> 00:11:18.360 And I were in this together and only us, only 239 00:11:19.320 --> 00:11:21.639 he and I are going to fight for those kids. 240 00:11:21.960 --> 00:11:25.919 You know, we can't, we will will. Both of us 241 00:11:25.919 --> 00:11:27.000 would give our lives for them. 242 00:11:27.080 --> 00:11:30.240 So having that bond has definitely brought us closer together 243 00:11:30.240 --> 00:11:31.320 in the past two years. 244 00:11:31.919 --> 00:11:34.120 And then you have a third child that's very healthy. 245 00:11:35.279 --> 00:11:41.360 Yes, he's a good middle So my oldest, Yes, my 246 00:11:41.399 --> 00:11:42.120 oldest is. 247 00:11:42.039 --> 00:11:44.240 A boy, and my youngest is a girl. And my 248 00:11:44.519 --> 00:11:46.080 son Luke in the middle is healthy. 249 00:11:47.000 --> 00:11:49.360 And Luke what does he think about everything that's going 250 00:11:49.360 --> 00:11:51.679 on with the older and the younger? Does he? How 251 00:11:51.679 --> 00:11:52.240 old is Luke? 252 00:11:53.679 --> 00:11:58.120 Luke is ten right now. He's he's such a good boy. 253 00:11:58.279 --> 00:11:59.960 You know, he's such a good helper. 254 00:12:00.039 --> 00:12:02.200 He helps my son all the time, like always look 255 00:12:02.240 --> 00:12:04.240 it up for him, like, will help pick him up 256 00:12:04.240 --> 00:12:04.919 if he needs to. 257 00:12:06.200 --> 00:12:08.200 And he's such a trooper. Like the past two years, 258 00:12:08.240 --> 00:12:09.720 we've been traveling NonStop. 259 00:12:09.799 --> 00:12:12.919 We've been traveling all over the country for medical means, 260 00:12:12.960 --> 00:12:16.639 traveling for conferences, Like we've had to totally change our 261 00:12:16.679 --> 00:12:17.320 whole lives. 262 00:12:18.679 --> 00:12:20.960 And he is just. 263 00:12:20.360 --> 00:12:23.240 He's adapted so well, he's coping so well. He's just 264 00:12:23.240 --> 00:12:25.519 such a good boy. And I know this is going 265 00:12:25.559 --> 00:12:29.080 to be hard for him. Have you know, poor middle 266 00:12:29.159 --> 00:12:30.960 child already he's already a middle child. 267 00:12:31.679 --> 00:12:34.600 Yeah, but he's the many that's going to pick up 268 00:12:34.639 --> 00:12:38.000 a lot of responsibility without even knowing he's doing it. 269 00:12:38.080 --> 00:12:38.279 You know. 270 00:12:39.039 --> 00:12:42.039 So he gets to probably that age, the teenage years, 271 00:12:42.080 --> 00:12:44.639 where he goes, Okay, I'm all with my friends. Okay, 272 00:12:44.679 --> 00:12:46.480 this is like, you know, I'm going to have fun. 273 00:12:46.879 --> 00:12:49.879 But I guess, you know, he sees that he's only 274 00:12:49.960 --> 00:12:52.240 known this life right because his oldest sibling had it 275 00:12:52.320 --> 00:12:54.919 than he is younger. Does he have to ask you, you, mommy, 276 00:12:54.919 --> 00:12:56.759 how come I didn't get this at a young age 277 00:12:56.879 --> 00:12:57.799 or anything? Or no? 278 00:12:59.080 --> 00:13:02.000 Yeah, so so definitely all three of them have asked 279 00:13:02.000 --> 00:13:03.080 why you know, why? 280 00:13:03.320 --> 00:13:06.279 Why me? And why not live? The kids have asked that, 281 00:13:06.320 --> 00:13:08.279 and Lucas asked, why didn't I get it? 282 00:13:08.919 --> 00:13:10.440 So right away we kind of had to be like 283 00:13:10.639 --> 00:13:13.159 very transparent with them. You know, they're kids. They need 284 00:13:13.200 --> 00:13:13.919 to know what's going on. 285 00:13:14.000 --> 00:13:17.000 If you don't explain things, they're going to be anxious 286 00:13:17.080 --> 00:13:20.200 and worrying and stuff. And of course the severity of 287 00:13:20.200 --> 00:13:21.840 this illness is. 288 00:13:21.480 --> 00:13:25.120 Incredibly scary to chair share with children, but so we 289 00:13:25.200 --> 00:13:29.320 share like what they development developmentally can can handle at 290 00:13:29.320 --> 00:13:32.159 the time. But we try to be very transparent with them. 291 00:13:32.279 --> 00:13:35.480 Now, how do you get the two around their wheelchairs? 292 00:13:35.759 --> 00:13:36.600 Their wheel chairs? 293 00:13:36.799 --> 00:13:40.799 Not yet, not yet, they're still walking, which is amazing. 294 00:13:41.159 --> 00:13:46.679 My son's twelve. He's doing really well. It is progressive. 295 00:13:46.799 --> 00:13:49.440 So from the onset of like when you kind of 296 00:13:49.600 --> 00:13:52.320 notice those first couple symptoms, it gets worse and worse 297 00:13:52.360 --> 00:13:55.200 and worse because it's basically you're born with healthy muscle 298 00:13:55.279 --> 00:13:58.440 and then the muscles when they are under stress, they 299 00:13:58.480 --> 00:14:00.759 just get damaged. So every day is just more muscle 300 00:14:00.840 --> 00:14:03.919 damage and your body can't repair it. So basically it's 301 00:14:03.960 --> 00:14:07.399 just progressive. It's a progressive illness as the years belong. 302 00:14:07.600 --> 00:14:09.440 But what they don't know where they don't know much 303 00:14:09.480 --> 00:14:12.360 about it. How can they determine, say, well, by fourteen 304 00:14:12.480 --> 00:14:15.720 they'll be at this age and by fifty, well it's 305 00:14:15.759 --> 00:14:16.279 so weird. 306 00:14:18.279 --> 00:14:19.679 It is rare, but there it is. 307 00:14:21.279 --> 00:14:23.120 You know, there are patients with it, so they have 308 00:14:23.639 --> 00:14:25.840 they kind of have like a what they call a 309 00:14:25.840 --> 00:14:30.159 phenotype kind of mapped out and it's it's pretty similar 310 00:14:30.240 --> 00:14:32.639 to tudish and muscular dystrophe, which is like the one 311 00:14:32.720 --> 00:14:34.360 that the more common one that. 312 00:14:34.320 --> 00:14:37.600 Most boys have. So they kind of matter up. 313 00:14:37.679 --> 00:14:40.159 But it is hard to study because this does have 314 00:14:40.200 --> 00:14:43.720 a lot of variability to it. So some kids might 315 00:14:44.440 --> 00:14:46.440 you know, lose their ability to walk at thirteen. 316 00:14:46.559 --> 00:14:48.799 Some kids might walk till twenty. 317 00:14:48.879 --> 00:14:50.159 It's hard to just don't know. 318 00:14:52.000 --> 00:14:53.200 Yeah, it's hard to tell. 319 00:14:54.960 --> 00:15:00.399 So are the signs different than boys versus girls question? 320 00:15:01.120 --> 00:15:03.799 Yeah, a little bit. I would say. 321 00:15:03.919 --> 00:15:06.879 My daughter's biggest symptom that we knew we had to 322 00:15:06.879 --> 00:15:09.519 test her with was she was toe walker. And you know, 323 00:15:09.559 --> 00:15:12.360 she's done valations she was like two, so that's always 324 00:15:12.399 --> 00:15:16.600 been like her. She's very dainty and box on her toes. 325 00:15:16.320 --> 00:15:18.799 And a lot of kids walk on the toes too, 326 00:15:18.919 --> 00:15:20.799 it's not like that uncommon, so with. 327 00:15:22.559 --> 00:15:23.919 You quit everything. 328 00:15:26.519 --> 00:15:27.120 Those toes. 329 00:15:27.559 --> 00:15:30.879 So I probably wouldn't have checked her if she was 330 00:15:30.879 --> 00:15:32.759 my first you know, I wouldn't have checked her if 331 00:15:32.799 --> 00:15:37.320 her just that. But my son at around like nine, 332 00:15:37.799 --> 00:15:40.440 So what problemted me to test him was around nine 333 00:15:40.519 --> 00:15:40.919 years old. 334 00:15:40.919 --> 00:15:41.879 Like we were out. 335 00:15:43.279 --> 00:15:45.240 All summer together and it was like, you know, they 336 00:15:45.279 --> 00:15:47.159 go to school every day. You don't see exactly what 337 00:15:48.840 --> 00:15:51.879 physical activities they do all day at school, but then 338 00:15:52.200 --> 00:15:54.120 you know, spending every minute with him last summer, I 339 00:15:54.159 --> 00:15:56.720 was like, something is off, Like he can't climb up 340 00:15:56.720 --> 00:15:59.480 a ladder, Like he's having trouble climbing up a ladder 341 00:15:59.480 --> 00:16:03.159 out of a pool, having trouble climbing up onto a 342 00:16:03.200 --> 00:16:07.080 boat like things like that, and I'm like, something definitely 343 00:16:07.080 --> 00:16:10.200 shifted and I just kind of have a gut feeling 344 00:16:10.279 --> 00:16:11.720 that's something was wrong. 345 00:16:13.399 --> 00:16:15.360 If you don't mind me asking Queney, what did Joe 346 00:16:15.399 --> 00:16:17.879 do pryor like, he spends a lot of time on 347 00:16:17.919 --> 00:16:21.159 this organization. And when you guys married and whatever before 348 00:16:21.240 --> 00:16:24.320 had children. What was his job his full time job 349 00:16:24.360 --> 00:16:25.559 or is it still his full time job? 350 00:16:26.360 --> 00:16:28.320 It still is his full time job. So he is 351 00:16:28.440 --> 00:16:30.840 a fourth generation. 352 00:16:31.960 --> 00:16:36.120 Wine and liquor retailler, So his family business has been 353 00:16:36.279 --> 00:16:40.720 a They have five package stores in the Metro West 354 00:16:40.759 --> 00:16:43.840 area of Boston, So he's still he's still runs clothes. 355 00:16:44.000 --> 00:16:49.240 He's he's very busy with that, of course, and he 356 00:16:49.639 --> 00:16:50.440 stays active with that. 357 00:16:51.519 --> 00:16:53.840 And the kids they go to school. They're not homeschools 358 00:16:55.600 --> 00:16:57.879 to go to school, but you're traveling a lot for 359 00:16:57.919 --> 00:17:01.320 different what doctor's here exactly? 360 00:17:01.399 --> 00:17:02.519 Yeah, doctors care? 361 00:17:02.720 --> 00:17:06.680 And then just foundation work too, like there's a lot 362 00:17:06.759 --> 00:17:09.200 of advocacy work that needs to be done. 363 00:17:10.519 --> 00:17:13.359 Is the company, Quinny, how hard is it to raise 364 00:17:13.440 --> 00:17:15.359 money for this? 365 00:17:15.519 --> 00:17:19.720 It's really I don't know if you've ever fundraised or. 366 00:17:19.720 --> 00:17:24.000 Anything, many many, many and too thirty something years of 367 00:17:24.039 --> 00:17:27.480 my life. Yes, and the thing you hate most is 368 00:17:27.519 --> 00:17:29.720 asking people for money, right, It's like, uh. 369 00:17:31.079 --> 00:17:33.440 I know, and you know, we're so lucky. 370 00:17:33.480 --> 00:17:36.400 Our community has really rallied like right off, right out 371 00:17:36.440 --> 00:17:39.279 the gate. Our community was so you know, jumped right 372 00:17:39.319 --> 00:17:40.000 on board to help. 373 00:17:40.440 --> 00:17:43.880 We had when you read your community event, when you 374 00:17:43.920 --> 00:17:48.000 say community, which community, what part of Austin so our 375 00:17:48.119 --> 00:17:49.039 local community. 376 00:17:49.599 --> 00:17:50.359 I'm from Boston. 377 00:17:50.400 --> 00:17:53.559 I'm from the city, and my husband's from Newton, So 378 00:17:54.559 --> 00:17:56.119 and then we live on the South Shore now. So 379 00:17:56.279 --> 00:17:58.799 just between the two families, we both have big families. 380 00:17:58.839 --> 00:18:01.200 I think between the two family is we we know 381 00:18:01.240 --> 00:18:01.799 a lot of people. 382 00:18:01.839 --> 00:18:02.720 I guess I don't know. 383 00:18:04.519 --> 00:18:09.880 Boston thing, Newton Cohasset, Boston, Newton Co has it at 384 00:18:09.960 --> 00:18:11.920 least for a reason that you can raise money, right, 385 00:18:11.960 --> 00:18:13.839 But it gets to a point where you kind of 386 00:18:13.839 --> 00:18:16.160 start going, oh God, can I call that person again? 387 00:18:16.279 --> 00:18:17.680 Can I call this person again? 388 00:18:18.519 --> 00:18:18.920 Exactly? 389 00:18:19.319 --> 00:18:23.160 It's not like you're asking for you You're asking for the 390 00:18:23.240 --> 00:18:25.599 spun that you have. You have enough money for your 391 00:18:25.599 --> 00:18:28.960 own children. It's not what it's about. It's about helping 392 00:18:29.000 --> 00:18:32.160 people that don't have the money to get the resources 393 00:18:32.160 --> 00:18:37.079 they need for their children. Right, So it's trust me. 394 00:18:37.240 --> 00:18:38.880 I know, it's not like that's what That's what I 395 00:18:38.920 --> 00:18:39.519 try to say too. 396 00:18:39.559 --> 00:18:41.039 I'm like, it's not a good com me at all, 397 00:18:41.200 --> 00:18:44.240 you know, it's we want to make a change in 398 00:18:44.279 --> 00:18:46.519 this landscape. We want to make a change for this community. 399 00:18:46.559 --> 00:18:49.039 This community's been sitting here waiting for a treatment. 400 00:18:49.240 --> 00:18:50.960 Okay, hold that thought. We're going right out to break. 401 00:18:51.000 --> 00:18:52.960