It's Monday. [Music] I don't know. Foreign speech.
Foreign speech. Why don't you come back? [Music] Maple Beach.
No. Hey. [Music] for for I'm going to do my business.
[Music] Can I do it? Okay. Komech.
Okay. Okay. Take your time.
Hello. Nothing. [Music] [Music] Mhm.
[Music] Yeah. Amen. [Music] Facebook.
Okay. forellectual. See, Hi, Karolini.
Hi. Hi. How are you?
I'm fine. How are you? I'm fine, too.
I'm with co Okay. Oh, I'm sorry. Me and everybody here in my home, but I'm okay.
And Rafael, too. Rafael, too. Rafel, too.
But he's he's asleeping right now. And I will and he's is every everybody's home. So, I'm going to the to the uh living room so I can talk to you more more.
Okay. And then I'm going to to leave here recording. We are recording here because we we want to hear again if something we don't understand so we can have some.
This is Flavia. Flavia. Caroline.
Caroline. Flavia. From Brazil, too.
Yes. Brazilian. She's a journalist.
She's going to write. I'm I'm going just to to ask you some question and then she's going to write and she's going to organize the book. Okay.
Because it's too much to me. So she's going to help me. Okay.
Okay. I'm going to take you to my living room now. How is Elena?
Uh Elena is great, but I haven't seen her for a week from now because working a lot and she's going to spend the whole week, the next week uh at my house. So, uh I'm looking forward, but I'm a bit um anxious because I need to work a lot and she doesn't sleep well as you know. So, you know what I mean?
She Yes. Yes. You You are a nurse, isn't it?
Yeah. Yeah. I can I can imagine that you too much and be a nurse is Sorry, I think your connection is shitty.
and dinner at home. I can't hear or see you. Flavia, do you see anybody?
Are you hearing me? I can hear I can see now. I can see you now.
Okay. Yeah, it's okay now. Can you see me?
You you you said that is not during the week. Uh she was at her father's so and I would Yeah. Marwan I think you know her him.
Yes. I don't know. I don't know how to say her name, his name, but I know Arwan.
Marwan. Like Marwan. Marwan.
Yeah. Marwan. Yeah.
Is that right? Yeah. That's great.
That's great. So, uh, can we start? Yeah, I'm ready.
Flavia wants to Yeah. You want to start the story be before and knowing who is Caroline because I know you but she does not. Okay.
So where are you from? When you born where where do you live? Who are you?
Okay. So I'm Karolin. I'm from France.
Um I am 30 years old now. Well, almost, but I can't say that I'm already uh 30 years old. Um I have I have um um um disabled child uh with a genetic disease.
Um, so Elena was born about 7 years ago and we just found out she had a genetic disease for three years now from now. Um, uh, what can I say about me? I'm a nurse.
Uh, I live in France. Uh, I work in Luxembourg. Um uh my father is Spanish, my mother is French and yeah we don't have any uh genetic disease in our family except this one.
Uh maybe I have another one but it's it's not linked to Elena's one. [Music] Um, how can I? Yeah.
Ask me something about me. I don't know. Your your mother is Spanish.
Uh, my father was born in Spain. My father. Your father is Spanish.
And your mother is French. Oh, great. So, you do you speak Spanish, too?
Uh, yeah. Oh, I'm so great. You You speak a lot of language.
Uh, no, I just speak English a bit. I speak Spanish a bit and I speak French. I can understand a bit of Arabic and that's it.
And I can understand a bit of Portuguese, too. Yeah, a bit. [Music] And so, tell us how was one met one?
What? Sorry. when you met and then you have what happened which year you met him and how was that meeting and how was the decision of having Elena okay so we are going really deep in the in the in the the thing okay so I met my one when I a student.
Uh I was at the nursing school. Uh I was 22 or 21, I don't remember. And um yeah, we've been for a year before I got pregnant.
And uh I was suffering from from anorexia when I I got pregnant. So, uh, I didn't have my period for a year and a half, so I didn't know that I was pregnant. Um, I found out I was pregnant when I was about, uh, four or five months.
Um, so there was no questioning about keeping the child or not because um, the time was out for abortion. Uh, if I could, I think I would have a board. I'm sorry, but yeah, that's it.
I was too young and I was still I was still uh studying and I had no money and yeah, I didn't plan that that way. Um so um the announcement was really brutal for me because uh I thought I was uh unable to have a child because of my condition. That's that's what the doctor said to me that I was um unable to have a child and then boom I am pregnant u with a child five months in my belly already.
So I was like what the Um, and the pregnancy was really hard because I had a lot of a lot of problems. Uh, I need to be hospital hospitalized a lot and then I broke my water at uh six months pregnant. So, I was uh forced to to be uh laid, you know, to to be laid on the couch all day long uh until the the due date.
And uh yeah, she was born with one month uh earlier, you know, she was born at uh 8 months and uh but she was healthy. She was okay. The the labor was hard, but yeah.
Um, like everyone else, I think. And yeah, that's it. That was She was a really beautiful girl.
And natural was a delivery. Natural delivery. I'm sorry.
What? Was it natural delivery? Uh, no.
No, no, no. because as I broke my waters I I had to be I don't know how to say they got me into basins and then the work was going on. It took like four days and yeah, Elena was born and she was she was really really beautiful and she was really Yeah.
more beautiful than I imagined. But how how was it once she arrived? And you were with Mahawan.
Yes. Yes. Yes.
was with me all the time at the hospital and um yeah, it was stressful for each other, but as far as I can remember, he was really doing great. Yeah. And um yeah, I think that he accepted more Elina than I did before because I couldn't uh accept the fact that I was going to be a mom and yeah that was going too fast and too overwhelming and is more like um okay that's it.
She's pregnant. We are going to have a blah blah blah it's okay. It's like that.
And yeah, so everything was natural for him but I would say and then she she developed okay or she when do you notice something wrong or something different? Well uh I felt for the first time uh that something was wrong when I was pregnant. I know I had like this feeling but you know but um I started to breastfeed her.
Um yeah I only gave my uh my milk and she had a lot of allergies. Yeah, she has like uh pimples and she has rushes and she was all red and swollen and we went a lot to the hospital because we didn't know um from what it was coming from and then she had some test and she was allergic to milk protein but I only gave my milk but all the um milky thing that I ate was passing through my milk and then gave her allergies. You know what I mean?
Yeah. Yeah. I'm sorry.
I can't really explain that. It's kind of No, I know. I know what I mean.
Okay. So, you notice in the breath breastfeeding? Yeah.
Yeah. So she was already like a few years a few few weeks maybe for a month I don't know month or two I don't remember but I have a lot of pictures that I took from her because it was really impressive. Uh so that was the first thing that uh that was wrong with her in the first place.
Then I had my best friend uh who was pregnant really at the same time as me. So we were pregnant together and then we gave birth together and we saw our child or children um developing differently, you know. So as I saw her son growing up, I saw that my daughter was not growing up the same way as did.
Uh and it was like she was like four or five months old. Yeah. like she couldn't um um like handle her head or um didn't uh manage to turn around by herself or didn't try to by herself.
She was just lying uh there on the floor uh not moving. Well, yes, she was moving her legs and her arms, but nothing else. Great.
It was the first thing that was really wrong for me and I got into a lot of fights with my doctors because I kept saying that something was wrong and they said to me, "No, no, no, don't worry. uh she's really too small and too uh little to say that something is wrong. Uh she maybe have some delay and you just have to wait and keep on stimulate her.
But I was already stimulating her. Uh I was doing everything that I thought that was um okay to do with a baby of this child of this age. Sorry.
Um and yes, I changed a lot of doctors because um they didn't um um believe me like when I said that uh something was wrong with my child, they said, "No, you are too um not anxious but uh you exaggerating. " But I wasn't like I know my child. I notic something.
I know that something is wrong with her and I want this to be taken seriously. Yeah. When when when you really find the exam and you really and the doctor starts to believe you.
Um that was um that was um uh like uh how can I say it was like an accident because um she had uh when she was one year old uh she couldn't sit down by herself yet. She couldn't she was one year old and she had that disease. I don't know how to say it in English but in French is um syndrome emoly ureic like uric and emolytic syndrome maybe I think it's like when you eat something um with oli bacteria you know uh in meat and she was about to die she's been in the coma for few few minutes I think or a few hours and she was really about to die and she had uh been taken to the hospital and the doctor said to us yeah it's like whether she lives or whether she dies and so we didn't know and then uh she survived after all without being really uh sick but uh she was staying at the hospital for about a month, a whole month at the hospital.
It was Christmas time and um when she was going better and I asked to see a neurologist so that he can um examinate Elena and to tell me why she couldn't sit down by herself when she was one year old. And that's when things um changed because I've been taken seriously by the doctors at the hospital and they started to to run some tests on Elina like a blood test um MRI um scanner um um yeah I don't remember EEG I think EEG um yeah they started to run a lot of tests with Elena by this time when she was at the hospital and they said to me, "Okay, everything is fine. We didn't find something yet for our daughter, but we are going to to to search.
Uh in the meantime, um we you are you are going to to have some appointments like two time a years to see how she uh she's developing is uh herself. " Um, and yeah, so it's it took a long time, like it took like years to to found out. And were you with Mahan or not?
Yes or no? I'm sorry. What?
You and Mahan was were together or not? Uh, when when Yeah. uh she got in coma.
Uh um we we were separating. We were really in the middle of the separation. Like like next month I took my own apartment and I left.
Okay. Yeah. We still live together but we weren't together.
I'm sorry. Uh we still lived together by the time but we weren't together. like we are we were not a couple anymore.
Okay. And then uh you keep investigating in the doctors and everything. And how many how old was she when you get the exam?
Uh the final results. Yeah. Uh she was um she was four.
Four years. Yeah. Great.
And how was it you you went to the doctor and what did he said to you or said to you in the first place we saw he had a lot of test uh done and everything uh was negative everything like really blood test MRI EJ um everything was negative but the doctor really they were sure that something was wrong so They they they took us to a genetic genetic department and we saw um professor I think and he told us I have three diseases in my mind. It's like um red syndrome. Red syndrome.
Yeah. uh William something um and yeah and yeah uh she really thought that she has uh one of the three. So at the in the first place we just did the three test like just one blood test to to analyzing uh the three genes and they they went negative.
It was negative. It wasn't that. So they told us um we need um approval uh for you to Elena and if you are okay for you too.
So both of us Marwan and me we got tested too. I don't remember how much, but I think it was like 6,000 pins like or it's like really a large panel, you know, really large um thing to to find something and we got tested the three of us and the negative results was were for me and my wife and Elena had the positive one for D E A F1. Uh and how was to receive that result?
What why how was your feeling and my one feeling? So how was the situations of receiving the result? Uh I wanted to die.
Yeah. Uh no in the first place uh I was like okay what the What is that? Uh I don't know that disease.
Um uh I was I was in a I was in a way glad that they found out something because I was sure that Elena had something. I really I really I was sure about it. Uh and I was like so relieved that they found something but I didn't know what what what it was.
And the doctor said uh yeah we we discovered this disease in only 2014 or 15 I don't remember and uh we have really no background or backup or you know history about this disease. So we don't know how it evolves. We don't know um uh everything about it.
We just know uh that we just know that. We just know that just you know bilepsy trouble sleeping um autism behavior um yeah just just the things that we already know now but nothing much nothing more. So I tried to make my own investigation and I found a few things like just in English just uh report from um clinic uh test on house mice.
So I was like what the Uh it doesn't exist. What what is going on? And then yes I I yeah I wanted to die like really and the next day when you when you when when how was to deal with Elena after the diagnose?
Does anything changed or it got better or worse during the time? She was four years in that time, isn't it? Yeah.
Um, how old is she now? Uh, she's going to be seven. Seven.
Yeah. Yes. How was this last three years?
I I I went a lot to the hospital because I tried once to kill myself. [Music] Um I am under medication now but I'm feeling better but really really really hard. Um sometimes I can't I can't um her too much for me I can't but emotionally physically so she stays at her father and um yeah I work a lot to forget I think and all the times I really enjoy like every moment that I have with her and I'm really I really try to stimulate her and to try things and to educate her the the more the more that I [Music] can.
Yeah. It's not uh near like like every day no I'm sorry. I'm going I'm going to turn off my mic when I ask you the question, then I'm going to turn off.
Okay, Caroline. Yeah. Okay.
So, yes. And um what do you what your plans and how what do you expect or hope for Elena and for you and for M or for for the future? What do you expect or what's your hope?
What do you how do you figure out the future? I really don't know. Um we just have the news that she's accepted to um a specific school.
So from September she's going to leave her uh leave uh in this place now. Uh we are going to to be allowed to to take her just only for the weekends. So, [Music] um I hope that yeah, I know that she's going to be fine over there because um she really she's not um she's happy everywhere.
In fact, she's a really happy child. She's happy everywhere. So, I'm not worried about her, but I'm more worried about her father and me because it's like uh they take off our child, you know?
It's like she's taken away from us and but I know that it's not that but it feels that way a bit but I know that um she can't live with us anymore because everything is really too dangerous for her and I can't have an eye on her like every second like I have right now when she's in my house. Um, so it's going to be release. Um, come on.
This is um relief releasing releasing for me. Um, and uh yeah, I'm not really um in good terms with her father. So um it's not that I hope something for him or not.
I just hope that he's going to be fine with that decision and I know I know that he's going to be fine but yeah I hope the best for everyone and but I can't see myself or Elena or Marwan like 10 years in 10 years I don't know I can't imagine I don't know and I prefer not to imagine because um we don't know everything yet on that disease so maybe we and hear some bad news. So I just try to live uh a day by day and yes and the only thing that I'm grateful for is that um now that she's going to go in that school, I know that if something happens to me or to her father, she's going to be um taken care of. Um, I know that that was my biggest fear that something happens to me or her dad and that she's going to be lost in the nature because she really can't take care of herself.
Really, that was my biggest fear. And yeah, uh, I don't know what to say much. I don't know.
No, that's perfect because it's it's the life Um, do you have any any kind of spiritual spirituality or relation with the spiritual religion or God or something like that? How do you see everything like this? Uh, I don't have any.
I don't believe in anything. Yes, I do believe in aliens. [Laughter] But no uh no I just don't I just try not to think too much.
Um and I just live my life like like I said just a day by day and um not expecting too much from the future or whatever and I don't have any gods or whatever. No. No.
Sorry. Um, can you hear me? Yes, now I can.
Do you want do you want to tell any more by someone or I'm sorry I can't hear you well now. Do you want to do you want to say anything more about to be to be registered registered or to be to to other family or to other? Oh um I don't know.
Uh keep your head up. I don't know. Yeah.
Um I don't know about I don't know much about the other families because as I said I I took off Facebook and I didn't want to check on every child on every families because uh it was too sad and too uh fearful for me. So uh I can't imagine what they are going through right now. And I can't imagine maybe they are going worse than me.
Maybe they are going better than me. I don't know. I just hope for them to get well and their child to be as healthy as they can.
Yeah, that's it. Let let me ask if she has any any other question. Um [Music] Wait for Caroline, she does not have any any other question.
She thanks to you and if she has another question, she's going to ask you and I'm going to say goodbye to her and talk to you a little bit. Okay. Okay.
Bye. Ciao, Flavia. Oh, your Portuguese came out when you said ciao.
Yeah, thank you. Thank you for teaching your words. Thank you for sharing.
Thank you for everything. Yeah, thank you. Thank you for you too.
And um I just had one question. Where is that going to be published or um in we are going we are going to do a book we are going to write it down and pass to you so you can read and see if it's okay to you and you can we can use your name or not if you not want that you can use a fiction name that's no problem too and uh then we are going to ask your permission to publish that okay with the stories of the other families we we are interviewing uh the whole families in the in Brazil. Okay.
Two families in Argentina, one family in Chile. Um two families in France, two one family. Yes.
Two families in France. me and um I can't remember her name. Frederick um the family that said yes to was was Frederick.
Yeah, you know. Yeah, I know her. I I had her on the phone.
Yes. Was Frederick and then another family from Russia. Another family from Turkey.
Okay. And another family that is from Colombia but lives in USA now. Okay.
that is our our team. Oh yeah. But is it going to take a little time because uh we have to interview everyone and we have to write it down.
We have to review with the families and then we are going to ask permission then then then when everybody is okay then we are going to publish. I asked it to myself, we're going to read that and the the publisher because there is a publisher in here and the publish said to me the news family. Uh this is the new families the families that are going to have the diagnos.
Yeah. That does not know now. And then yes, if we if I I when I receive the diagonal, receive the book, maybe that could help me to to figure out a lot of plans, a lot of things.
And I we we we really want to put uh some chapters chapters some chapters about uh what science knows now. Okay. and explain some symptoms, explain some uh routine, some uh therapies and some things that are not good and some and something about genetic and things like that.
Yeah. To increase the awareness. uh we know that we are few but I don't know uh we if we help one that's okay if we have 10 that's okay if we have 100 that's going to to fund raise yeah tell me that because I want to share with my uh belongings and Um and with Frederick in France is yes to be in France and then I did I'm sorry uh with Frederick from France too we create to raise fans too so that we can give it to you you create one because I association.
Association associ. Yeah. Yeah.
And then we started an association. Yeah. We created one and yeah yeah yeah yeah we we did that and uh so we are trying to raise funds and then we can give you to yours because yours is bigger and yeah thank you.
No, it's okay. Oh, no. How happy you make me.
Very good. We fight every day here for that. Sorry.
What? We fight every day here for that. I know.
And then I know Yeah, we are going to do a soup now again. And then we are we are increasing and then the the better we can do we are going to do the most we can do we going to do and I'm very happy we are very thankful very very very thankful no more we we are we are walking in the research and we want to do it as much fast as we can because we know and I know and you know how urgent is that about the link that you sent me about Simon research. Uh I um created um one profile and one for Elina and they got to uh found all genetic results and then now we have to run some blood test again to I don't know what the time foundation foundation research something like that.
Yeah. Yeah. They they do some kind of um data researching, isn't it?
Yeah. But have you seen have you seen the videos that I sent to you? Yeah, I saw them.
Yeah, of course. And I had a interview with I think it was a genetician counselor something like that uh from uh Pittsburgh I think in um yeah in USA. What what did she said about that?
She asked me a few questions about me and Elena. And uh yeah, she didn't really tell me some things that I didn't know. Like I already know everything yet as much as you do, I think.
Um it was just like to get to meet to meet each other and to um yeah to discover each other and to know more about Elena and yeah here here we are we are working in some minds of research um the inflammation back. Um, I'm going to tell you because I know Mah tell me that he works in Amazon. He does.
And uh there is a phone from Zukberg. Okay. And we are fighting here for this month to investigate the inflammation aspect of the syndrome.
And so it it gets it opened my eyes when you said that Elena has some how do you say inflammation feel? Uh she has breastfeeding in the breast. Breastfeeding.
Yes. Yeah. She has allergy.
Allergies. Allergies. Allergies.
Yeah. Yes. Yes.
Yes. That is great. That's I know that's not supposed to be hard, but it's great to know.
Yeah. But I I've read a lot about it and I saw that child who have um D A F1 uh gen are more likely to have allergies and um like small diseases you know like cold flu blah blah blah and Elena was allergic to milk and she was also allergic to nut you know nut Nutella. Yeah.
Yes. Yes. Great.
Great to know. And then we are going to fight for this one this fun and then we are fighting again to the organoids the cerebral organoid. So we can u mix the information from the cells and from the ser the the mind the brain I'm sorry.
Okay. on the brain and uh this these two aspect and the gastrointestinal uh we do not we do not want to invest too much in mice because um Phil Jens is already doing it so Philip Jens it's a scientist okay in USA he he he likes too much about uh the mice uh investigating and that's okay. So we can exchange that information and he's already being paid about NIH to from NIH from this United States and that's okay.
Okay, we are going to do some here too but just to help our focus is in humans our focus is in our kids. We are going to investigate those cells, those bodies, those minds. We we are fighting for something that can help in the behavior or in the cognitive or in the epilepsy or things like that to to find a cure.
To find a cure and how to find a cure because you don't know we don't know where to go yet. Yeah, I know. But I believe if we stay only in the mice, we are going to take too much time.
But I was once in Paris to see a professor um u just after I received the diagnosis. and he told me that there was um like not a cure but something that we can do in the USA is the crisper ter what uh the um it was the crisis Yeah. You know, what did you say about the greenery?
Yeah, they know. He said that it was too dangerous because um one of two children might have leukemia then or any sort of cancer. [Music] a lot of experiments in crisper and one of exper one experiment that we want to do is to do crisper but in the little brains uh that I told you not in our kids so we can do there and see what happen and then we can go to uh other stuff then we can go if we found that is okay then we can go to the mice then we can go to the kids.
Yeah, that's the steps. We do not we can't go so fast as we can but we have to go we want to know about crisper. We want to test the crisper in the m and in the I think that crisper is the solution but we we don't know much about it yet but I think that might this might save I don't know if it's going to save our children because now big I guess the genetic if we had therapy on Elena months Lord may have now she's there is nothing to do.
Um I I didn't I didn't hear everything you said but I I believe I I I I thought that you you were saying of the age and the using of crisper isn't it? Yes. uh you can look for the experiment that I going that is doing that has been doing in pit hoping syndrome and there is also another another two disease that is doing similar tests with Hopkins disease red syndrome yes red syndrome and iicard syndrome what those is syndrome.
Okay. I don't know. Yeah, I can write to you if you want to.
Yeah, I can. Yeah. And those syndromes are um in front of us and that is good because they're already testing things.
Okay, they're already testing the kids. They're already testing the math. They're already testing the crisper.
So we are following their tests and we are doing the researching the basic researching that we need to do before to know more about the F1. But the the the basic researching that we need to do that we want to do here and I believe you too is with human samples not only with mice. Mhm.
Uh but okay the mice no no no no problem the mice to observe and to compare but uh we are going to collect samples um I don't know when but I believe I I want to do it now but I supposed to do it next year. Uh, yes. Let's let's try.
Let's see. Yeah. What do you think about everything?
Because I I talk too much. Oh. Um, I don't think about anything.
In fact, uh, I think that I thought too much already. Uh, I've been through every stages. I think really, really, really.
And so now I just um go with the flow. I don't know really I I years to think and the how and the how and the why and I'm tired of asking questions. So um I just go with the flow.
I don't know. I can I can I just don't want to see too much. That's why I left Facebook and um and I don't really want to get in touch with every parents and I don't want to talk about it 24/7 because um yeah I have a life and I don't want my life to be more shitty than than it is now.
So, I try my best to uh live with that and not to think too much. Yeah, that's that's how it is. But I think that I won't have it in the future.
I don't want to have any children anymore. Yeah, I I I can imagine. I I of course I know that you are making a Facebook decision and they're all family in the Facebook made similar decision of in that school but he's very happy now that the kids is very big and the kid really grows there very well very soon and I I just want to say to you to to count on and let's go.
Let's go for it. Let's try to do our best and that's okay. Yeah, no problem.
And the best will come. Yeah, sure. Uh I I am here if you need anything else.
Yeah, you me too. Me too. But I hope Thank you very much.
Really give a big hug to Rafael for me. Thank you. He's going to do better.
I'm But I am a little You seem okay. Yeah. Yes.
He He's okay. I'm okay. It's going to be better.
That's how you say and how every almost every mother say let's live day by day because we cannot live more than one day just live one day that's it thank you very much bye Anna thank bye bye keep in touch by meada help.
