Loss 31/101: Loss through parenting a child with Angelman Syndrome: Vlad Korotkov & Irina Karaseva

#045. Vlad Korotkov & Irina Karaseva, had the typical dreams of parenting when they got pregnant with their first child in 2019, but sadly this was not going to be their experience.

On The Silent Why podcast we're on a mission to open up conversations around loss and grief, to see if hope can be found in 101 different types of loss. Can it be found in the parenting of a child with disabilities?

Early on in their parenting journey Vlad & Irina, a Russian married couple from London, had suspicions that everything was not as it should be, and when their daughter, Emily, was 1 year old, she was diagnosed with Angelman Syndrome. 

Loss #31 of 101 - Loss through parenting a child with Angelman Syndrome

Angelman Syndrome is a genetic condition that affects the nervous system and causes severe physical and learning disabilities. 

This episode is the first time we’ve interviewed both sides of a couple and had four people chatting together. When Irina asked if her husband could join us on this chat we replied with an enthusiastic ‘yes!’, because just like she’s experienced, we’ve found it’s often the women that are found to be speaking out on some of the tougher issues around loss and grief.

In this honest chat, Vlad and Irina share what it was like to find out their daughter wouldn’t be the healthy child they were expecting and what losses and griefs are involved in raising a child that may not see the typically expected milestones. They also share about the unique traits associated with the condition, including extreme affection and fascination with water.

For more about Vlad & Irina you can follow them on Instagram: https://www.instagram.com/ira_karaseva/ 

To support their Just Giving fundraising to cure Angelman Syndrome donate here: https://www.justgiving.com/page/goemily 

For more information on Angelman Syndrome and F.A.S.T UK visit:
https://cureangelman.org.uk/ 

Transcript

Irina: 0:02

Hello, my name is Irina Irina Karaseva and I lost the experience of a typical parenthood.

Vlad: 0:08

Hello, my name is Vlad Korotkov. And we're here to talk about Angelman Syndrome, disability and how a similarly devastating syndrome can actually have some silver linings.

Claire: 0:20

Welcome to The Silent Why, a podcast mission looking for hope in every type of loss. I'm Claire.

Chris: 0:25

And I'm Chris, if you're new to the podcast - Hello! Do you take a listen back to our previous episode because we reflected on the first 30 losses of the 101 we're aiming to explore.

Claire: 0:36

We're enjoying a run of firsts. Our last guest Dr. Jennifer Bute was our first in-person interview. And in this episode, we're having our first conversation with two people, a married couple.

Chris: 0:45

Four of us for the price of... well, it's free to listen to, isn't it? Unless you'd like to support Claire through www.buymeacoffee.com/thesilentwhy(see our website for more on that).

Claire: 0:52

I was put in touch with Irina to talk about the loss of a typical parenting experience, and when she asked if her husband could join us as well, we replied with a big fat...

Chris: 1:00

Yes, please! (so British!)

Claire: 1:02

Often when sharing experiences around parenting or grief, it is the female voice that gets heard the most, but Irina was keen for Vlad to be heard too, which we thought was a great idea.

Irina: 1:12

the hospital with her before the diagnosis when her oxygen levels were low. I definitely didn't expect that.

Vlad: 1:25

Well my emotion is a memory of Irina's reaction. She was pretty devastated. It set my hopes pretty low, in that particular instance.

Claire: 1:33

Their daughter Emily is two years old and was diagnosed with Angelman Syndrome early last year. It's a genetic condition that affects the nervous system and causes severe physical and learning disabilities.

Chris: 1:43

In this conversation, they talk honestly about the losses that followed Emily's diagnosis. And then redefining parenthood as a result.

Irina: 1:50

You look around and it seems like everyone is having healthy children, right. Obviously, that's not the case, but you pick up on that. I think that's very hard to see in the first place. But then, I think maybe after probably a couple of weeks or months, I kind of stopped comparing, having at the moment, pretty much I would say, I don't compare it all Emily's development to how other parents experience it with healthy children.

Vlad: 2:15

It's definitely worthwhile knowing pretty early post diagnosis because otherwise you will picture your own vision of reality based on only doom and gloom. So it's super important to see the examples of life continuing and being an enjoyable with difficulties but still enjoyable.

Claire: 2:33

Irina and Vlad live in England. And we began the chat by asking them to introduce their family and what life looks like for them at the moment.

Irina: 2:39

Shall I start? So, we family of three, myself, Vlad and our daughter, Emily. We live in London. And we both work full time. And typical week for us is working, and then taking care a lot of Emily in the evenings and in the mornings, and then surviving the weekend entertaining our daughter.

Vlad: 3:07

I'm Irina's husband and the father to Emily, who is a lovely, two years and two months old. Maybe in addition to entertain an Emily during the weekends, we also follow a very busy social schedule that Irina is currently composing for, if not weeks, sometimes months in advance, trying to meet our friends and ex colleagues and current colleagues, just to make sure that we're not isolated from the rest of the social. And Emily has friends outside of the nursery.

Chris: 3:39

And we need to say thank you to you both for being the first guests that we've had as a married couple, but lovely to have you both on. So we're really thankful for your time. Thank you. What's your background? How did you both meet? How long have you been together for?

Irina: 3:53

We've met at school. But we didn't study at the same time. We had kind of a very old-school school, if you can say that. So kids who would graduate, they would come back and see the teachers and that's how we met with Vlad, when he came to visit the school after he graduated. And then we've been together for a very long time. We've been married for almost 10 years?

Vlad: 4:17

10 years next year. Yeah.

Irina: 4:18

And then been together for 15?

Vlad: 4:21

Gonna be 14 years, this year.

Claire: 4:23

Lovely. And we've got you on here today, because you've got a daughter called Emily, who you mentioned was two years and two months. So what was that journey like? Did you always want a family? Was that something you thought about early on?

Irina: 4:34

I think so. I mean, I had quite a demanding job when when I started working, so I couldn't really imagine having a child then. But I think once I moved into a bit more stable environment, then we thought there was about the right time to try and also, to be honest, I heard quite a lot of stories from friends and colleagues who are struggling to have a child And, and I thought while we're relatively young, let's try and see how it goes because I knew that it could take years. And that's why we tried for Emily and and it was quite quite a quick process for us, so...

Vlad: 5:14

Hey! What are you trying to say? [laughs]

Chris: 5:16

I wasn't gonna say anything!

Irina: 5:19

But I think that's pretty much like we wanted to have a family, I think when the circumstances were right, we just decided that that was time to do it.

Vlad: 5:29

I remember Irina telling me early on in our relationship that I should definitely become a father before I turn 30 because then I'd be too old and then I'd turn 30, and Irina was in the thick of her consultancy job. So I was thinking, so what is the next threshold? So it turns out that it's 35!

Claire: 5:49

It moves!

Vlad: 5:50

Yeah, just moves.

Claire: 5:51

And so you must have had Emily just before the first lockdown. Is that right? If I've got my maths right on that. How was that?

Irina: 5:58

Yeah, I think it was just the first lockdown. So that make things quite difficult for us in terms of the whole, yeah, the late pregnancy, I was paranoid about getting COVID, and there was no vaccine at that time. And then we didn't see anyone for a few months before, before giving birth and and then there was quite a tough time in the beginning as well, because of the COVID restrictions.

Claire: 6:22

I read that you'd had Emily's diagnosis with Angelman Syndrome fairly early on. Before we get on to a bit more about that, was it quite a normal early parenting experience? Did things seem like everything was going well? Or was it difficult from the start?

Irina: 6:36

No, unfortunately it wasn't. So I had an induction at 38 weeks, but my pregnancy was fine overall. And even at the late pregnancy, I was I had an infection because of the preeclampsia risk of preeclampsia. And therefore, we kind of like something wasn't right, but we didn't know what it was related to. And then when Emily was born, for me, I felt like I always knew that something was wasn't right, because she wasn't pretty much from day one, right? She wasn't eating well. She wasn't sleeping well. She had terrible reflux, which can be normal as well. I think all these things can be normal, is just in combination - it just - so many things that wasn't right at that point in time. I don't know, Vlad, you probably factually can describe it better than I do. But there's just so many things that we felt wasn't wasn't right.

Vlad: 7:29

I think it was more obvious to Irina than to me because everything I've heard from my male colleagues at work about being a father is that your life will change completely, that you can't prepare for it. Forget about sleeps, I was kind of prepared for a complete revolution of that part of our life, coupled with some Netflix documentaries about babies. I was prepared for chaos. So, many of those things that were completely unusual to Irina, even I thought though that's all to expect. Whatever challenge that happens, it's it's expected. That's what everyone else is going through.

Chris: 8:08

And so along comes Emily. What was the journey like from that point on until there was this diagnosis that came? Did that come out of the blue or were you expecting something similar?

Irina: 8:19

I think I will probably say it was unexpected, because I probably read every single thing possible online, as you do when something isn't right. And I just couldn't. Well, I thought I heard I found about Angelman Syndrome on the internet, when Emily was about two or three months old, because I've never heard about this syndrome before. But when I was reading about reflux, and then Emily had a bit of kind of twitches and some movement that I didn't like as well, and I was Googling a lot and then came across Angelman Syndrome. And then they were saying that kids with Angelman Syndrome always have seizures. And they also fascinated by water. And I was telling Vlad at that point in time, it's like, how, how is that possible that there is like that genetic mutation that results in fascination with water? It's just, I don't know, it boggled my mind at that time. And we just kind of, I don't know, discussed it between ourselves. Thought that how, what a strange syndrome it is, and then we thought, okay, Emily doesn't have seizures likely yet. And she's fascinated by water. And I think there were a couple of other things that were quite common across different syndromes and conditions. So we kind of thought, okay, that doesn't sound like Emily. So we kind of disregard that. So I think when we got the diagnosis, I knew what it was, and like probably to certain extent, as well, but it wasn't expected at all, from my perspective, for sure.

Vlad: 9:50

No, I certainly didn't expect any diagnosis. There were some medical, some blood tests that were being ordered that if accurate, If they would have indicated a not-a-great but treatable condition, and I thought it might be probably that one. And I was pretty optimistic about the outcome. So, um, when the the results of the genetic tests arrived, I was just expecting them to be all clear and they weren't. So, um, it was a definitely something that I did not expect. And then Irina knew more about Angelman Syndrome. I didn't so when I mentioned to her that, like, the report says Angelman Syndrome, I haven't yet managed to Google much before telling Irina and Irina was completely shattered when she heard what it was.

Claire: 10:42

So why don't you tell us what Angelman Syndrome is and what's actually going on in the body with this?

Vlad: 10:46

So Angelman Syndrome is a rare neurogenetic disorder. And by rare, the estimation is that it's about one in 15,000 live births is affected by this condition. It affects mainly the central, I can't remember what the word is, it's central neural, neurosis...

Claire: 11:11

Is it nervous system?

Vlad: 11:12

Nervous, that's the one, I'm doing the reverse translation into Russian and back.

Claire: 11:15

Oh that's impressive!

Vlad: 11:16

So central nervous system. And it's an interesting condition because it affects a single gene in a body. It's chromosome 15, there is a specific gene that's called EB3A, and either its absence or malfunction leads to a chain of consequences in human body, which results in different symptoms dependent on the actual nature of the problem, it might result in seizures, lack of speech, problems with gross motor skills, cognitive development, gastrointestinal problems of various kinds, and a long tail of other symptoms. And one of the quirky features is that fascination with water, which is not in 100% cases, but in maybe close to 80% cases. But the silver lining of the syndrome is that usually those with the syndrome have a very happy disposition. And they are quite smiley and affectionate people. That's not to say that they're always like that it's most of the time, because like, there is an opposite side of this, there is an angry behaviour, there is sometimes self-destructive behaviour as well. So it's, it's not all, all nice and rosy. But the 'nice' side of it, if you can use that word, the affectionate and smiley child is somewhat compensating for the other nastier parts of the syndrome.

Claire: 12:55

That fascination with water thing is incredible. What does that look like?

Vlad: 12:58

So kids can stare at a running water tap for, like, a really long time, but whilst at the same time not being able to concentrate on any particular toy. So having, like, real, real change of behaviour, when they see either like a swimming pool or just running water, they'd be splashing and playing with it and not wanting to get out of a bath, for example. So Emily doesn't have that. So I can't colourfully describe that to you in details, but we didn't know that it's not a like a ubiquitously presents in symptom. So that's why we've self-diagnosed that diagnosed Emily not to have Angelman Syndrome, because we definitely don't have seizures and doesn't have that thing. And this thing, so it's definitely not that. But yeah, then we discovered that in literature, there is a soul probabilistic, some, some symptoms are present in some sub-types, but not in others. And it's not even consistent for a given genetic subtype. And, and probably another important thing I forgot to mention is that it is, like, in the vast majority of the cases, it's a completely random event. So it's not inherited. It's just "luck". There are very, very rare cases where some the state of parents DNA can increase the chances of Angelman Syndrome forming in the child, but usually it's a de novo event, as they say. So it's random.

Chris: 14:39

This is, I mean this has all happened really in the last in the last two years. So it's all still very new, I guess, in many regards, and very fresh. But as your story started, as you're talking about wanting to start a family, how life is now with you parenting, are there any similarities with what your expectations were when you thought about starting a family- is anything about parenting today as you were expecting it to be?

Irina: 15:05

Great question.

Vlad: 15:06

Some some bits certainly are, I think, we have a mischievous and sometimes - we think that she's experimenting on us - child. She is funny and she is causing us all sorts of trouble. It's just maybe a different kind of trouble compared to what a typical child might bring. But she goes to nursery, she seems to be quite happy there. And she is happy to see us. So there I'm, like, I think the love element in both ways is there. And that's very, very good, because there are significantly different circumstances with other genetic conditions. So I think that's probably the most important thing right now. She doesn't hate us. Maybe when she enters her teenage years, it will be different story. But I think that maybe one of the most important things is as expected.

Chris: 16:15

Okay, and Irina. Yeah, to add to that, maybe what are some of the ways that - or the things that have taken you the most by surprise?

Irina: 16:22

I think it's the mental lows and actually maybe the physical kind-of the the responsibilities in terms of putting all the papers and you need to submit so many things to make sure that the care is provided to Emily in the way that she she needs. I probably never, well, I definitely never expected it when when you think about having a child you never think about those those things. For example, the other day Vlad and I was filling in 20-Page form, about the kind of health and care plan and education for Emily to make sure that she gets the support. And this is just the first step you fill the form and then obviously then, in order for her to get that support, you need to go through multiple stages of that. I never imagined doing that. And then there's just one of the forums and we probably need to feel I don't even know how many throughout our life with Emily in the future and even now we've done so many. We spend one month in the hospital with her before the diagnosis, when her oxygen levels were low, I definitely didn't expect that. In the first week of her life we want to end three times. It's been probably the most traumatic experience in terms of going to A&E and saying'my child doesn't feed, my child doesn't...' and everyone around saying everything is okay, we checked, everything is normal. I think, for me, that was very hard to experience that. Yeah, definitely didn't expect any of that.

Vlad: 17:51

Yeah I second that. The amount of medical appointments is certainly quite an unusual thing, I guess, in parenthood. So regular appointments, those A&E visits and stays in the hospital. It's not how I planned to spend my parental leave, but came in quite useful that I had time off so that we could actually survive through a hospital stays. For you both individually, what would you say is the hardest point about parenting a child with Angelman Syndrome sort of right now?

Irina: 18:24

For me definitely sleep, because Emily doesn't sleep well. And I think part of it is maybe we need to be a bit more disciplined around trying to kind of maybe comfort her in different ways. But at the moment she wakes up around 1am or 2am and then doesn't fall asleep anymore on her own. So we need her, we need to comfort her and sometimes we take her to bed with us and we both don't sleep pretty much properly until the morning. So when that's been going on for some time now, and not to say like this is much much better than it was when she was born obviously newborn was very, phase was very hard. She slept on us for three or four months exclusively. She wouldn't be put down anywhere and that was very hard. And normally probably around the age of seven months we move to the place where Vlad and I could sleep in the same bed, before that we just... she was just sleeping on us and it was very hard

Vlad: 19:23

Yeah this is because of the reflux, to help her we were keeping her on our on our chest so we're sleeping - or not sleeping - with (actual not sleeping when we're with her). But she was on so that she's vertical she could sleep rather than laying down. For me, again, the more I know about other parents, the more I hear about disrupted sleep being a not not such a rare thing. So I like felt less special with with our inability to sleep properly as and more more humble. But probably in terms of what's difficult now, in addition to disrupted sleep, I'd probably say that's probably going to sound also like quite a typical thing. But it's the constant supervision. I know for two year old, it's not an uncommon thing. But Emily doesn't seem to recognise yet any words that would indicate danger, or some signal for her to pay attention to what I'm saying immediately. So she would continue crawling towards a dangerous thing and doing something that you shouldn't be doing. And I can't do much about it apart from physically stopping her and preventing something bad from happening, which means that whoever is with Emily is either constantly supervising like every second, what's happening, or we need to place Emily into a environment where the risks are completely minimised, which is becoming more and more difficult because she's becoming bored quite quickly, and needs to move around and is unhappy if she's limited. That's why we're moving house as well. So...

Chris: 21:11

Just to add another stress. Yeah.,

Vlad: 21:13

Yeah exactly. So we're, we've not mentioned yet, but we are expecting a second child in September.

Claire: 21:21

Congratulations!

Chris: 21:22

Amazing!

Vlad: 21:22

Thank you. And we're moving house in September as well. ,

Chris: 21:25

Okay, yeah that's a lot to prepare for. More paperwork, and you don't like forms!

Vlad: 21:31

Exactly. So we're, we're going through lots and lots of documentation now. But I think something that's hardened us in the past, is the fact that we've had to apply for visas multiple times before we became citizens. So like multi-page forms is usually what I'm responsible for.

Chris: 21:50

While we're on the subject of having a second child and Irina being pregnant. What was your experience like of thinking about a second child? Was there any impact from your first pregnancy, thinking 'well, how will the second pregnancy go?' Was there any impact on that?

Irina: 22:07

Yeah, I mean, it's been a very difficult journey. In terms of Well, first of all, being brave enough, I think, to go for it, doing our research in terms of what is inherited, what's not. The NHS does offer you test to see if there is anything in in us that can result in Angelman Syndrome. So we did that test pretty much after Emily diagnosis. But then also, when your child has a rare condition, it kind of expose you to all you know much better about all the different conditions, and all the different things get can go wrong. When I was pregnant with Emily, I probably knew about 1% of everything that I know now. That was very scary to just think about a second child. And even when we got pregnant, I just started doing lots of test in terms of as soon as we could to figure out if there is anything that that the child may have. And and we've done pretty much up until now. We have various things that we've been testing and checking and, and because also I had preeclampsia in my first pregnancy, and I also have Rhesus negative blood and all these things, bring some additional complications into the picture on top of everything kind of potentially, randomly, genetically that can be wrong, or just just during the birth process or something like that. So yeah, hasn't been easy mentally, for sure. Pretty much this whole time and I think there is there is no point in the future as well before child is born, or maybe even before like six months old, I can really think of myself relaxing and thinking everything will be fine. Because it's just constantly on your mind how many things can can be wrong.

Claire: 24:02

In the first time around there kind of decisions you make without kind of thinking about much but this time around, like you said it's a brave thing to do.

Irina: 24:08

Yeah, and I think I think maybe the the the reason why, from from my perspective, I thought it's a good idea in a way is that I looked around in the community and so we're where people have other children, healthy children, and children with Angelman. I think it kind of gives people a bit bit more balanced view of, of where they life and experiences parents, because otherwise, there is so much to worry about, and take care of when you have a child with Angelman. It consumes you fully, right? You just literally surviving most of the days. And it will be easier when there was another child but I think if you focus on something else, as well as everything to take care of disabled child, it's probably just mentally bit easier, but obviously nobody guarantees you that you will have a healthy child.

Chris: 25:01

With the podcast, we want to use this to explore lots of different types of loss. So Vlad, certainly for you, as a guy, as the sort of husband, what's been your relationship with, just in the last couple of years, recognising small things or large things that you may have lost and acknowledging them, and then working out how to how to grieve them, if you need to grieve them, what's that been like?

Vlad: 25:24

Some thoughts about what the 'quote unquote normal future' would have been like, were probably the hardest. So I'm like, rewinding back in time, my experience of what other dads have been doing with their kids, like those YouTube videos of a dad and his daughter dancing to something and singing songs and just creating something together, to like weddings of our friends who, whose like Dad's delivering the funny speech, and everyone's laughing, and then they hug and dance and all of those more sentimental moments, I guess, and father-daughter relationships. So those things probably were the hardest to think about. I don't know if I've figured out a way to cope with those yet. Maybe some, some of the, those things will never happen, but maybe they will happen in different way, and that that's alright. So I think it's easier to cope with things like that, if they're not in front of you, whilst when they, I mean, when examples of that are not in front of you, and then when they happen, it's more difficult. Like, I went to Father's Day in the nursery recently, and they almost regret going, because it kind of puts things into comparison immediately. And whilst we are in like her own, sometimes a bubble in terms of the points of references for Emily's development, things are alright, because it's our system of coordinates, but when you're like observing how kids are running towards their dad with, like the words and obviously the mobility and all of those things then Emily's not then that kind of, it's quite contrasting, and that's more difficult. With the second child coming, I think it actually might be easier, because some of those hopes might have a chance of being realised. But I don't know if it's okay, thinking like that. It's kind of isolating Emily away, but it kind of makes it a bit easier that it's not completely impossible. It's possible but in a different composition. And then experiences with Emily will be will be quite different, but they'll still be enjoyable and memorable. So I don't I don't think have figured it out yet, but I think of myself as quite robust, psychologically robust person. So I think mentally I'll be okay.

Chris: 28:09

Thank you for sharing that. Irina. How do you feel when you listen to Vlad talking like that?

Irina: 28:14

Yeah, I mean, it's quite sad, to be honest. And I think at some point, maybe in the beginning, it was very hard for me to just see other families with healthy kids. I know it sounds strange, but you kind of you look around and seems like everyone that's having healthy children, right? Obviously, that's not the case. But you kind of pick up on that. I think that's very hard to see in the first place. But then I think maybe after probably a couple of weeks or months, I kind of stopped comparing, I think at the moment, pretty much I would say, I don't compare it all Emily's development to how other parents experienced it with the healthy children. And I think, I don't know if it's a good or bad thing, but I try not to think about it much. And I think when you talk through those things, and what was saying about you go into the Father's Day, and I went to Mother's Day, obviously for this stuff to the nursery, and I think I managed not to compare. Because when you compare it's very hard. And I think when when you do hear it as well, it's quite hard to digest as well. So I mentally find it much easier not to compare because otherwise it's pretty tough.

Claire: 29:23

I think that's a really healthy place to have been able to get to you because it's not easy just getting to that point of being able to not compare and I think a lot of what you said there I empathise, I know that you said you empathise when you listen to our story as well. There are a weird similarities about the grief and the loss even though our situations are very different. And it is hard. It's hard. You're grieving the loss of something that you wished you'd had which is a weird thing to grieve because you've never had it, and then you're watching your partner grieve for something they wanted. And there's also stuff that you wanted to see your partner do these things and so you're grieving their loss as well as your own. It's incredibly complicated, and I think it's really good that we're talking about this because people don't understand I don't think most people might think, oh, you know, that's a shame their, their child isn't maybe as healthy as they'd have wanted it to be. And they might see the physical difficulty with that with the lack of sleep and the behaviour issues and the fascination with water or anything else that comes with it. They don't always see the loss and the grief that comes alongside it. And I think that's, that's really hard, because it's not on show. So others don't give you that empathy and that sympathy that that you need at those points when you're, you're making those decisions.

Irina: 30:28

Yeah, I was also thinking about, I think the other angle to that, that I probably don't really pay much attention to, but it's how it shapes your relationship with other people as well. Or say the wider families as well, because like, obviously, Emily's condition has an impact on, say, our wider family like my mom or my sister's family, and you don't potentially think about it much because you're the most impacted person. But then ultimately, they they also lost something in terms of even sometimes I can't maybe care for mum when she needs it. Because I have Emily, I didn't sleep, didn't slept for like two years, and I just can't really afford it. So I just really need to be focused on taking care of Emily. And I think having the wider perspective and maybe even relationship with your friends and and other things is just not something that comes to mind, first thing that comes to mind, but it's, it's very, yeah, it's impacting everybody and your relationship with everyone around as well.

Chris: 31:30

Vlad, I just know the question again, for you as the husband, some of us men like to fix things, you know, we don't like things that are out of our control. We like to see a problem and find a way to fix it. What's it been like for you being Irina's husband and seeing her even from the you know, from those early days when there's a diagnosis over and before that, while she was on Google right through to today and seeing her as a mum and just realising that, you know, your parenting now and you're growing families is a long term thing. What's it like being the dad in that scenario?

Vlad: 32:01

Most definitely wasn't an exemplary supportive husband, during the days when Irina was constantly on Google, googling all the symptoms, partly because the medical professionals we've seen were pretty consistent in being optimistic and positive and advising not to see something where there is a different explanation. So for example, so many kids have babies have reflux, and it's something that they grow out of. So stop worrying, and most likely, it's reflux. So that's kind of the approach I took from those visits. Whilst Irina hasn't. So I didn't share the same levels of concerns when things were unfolding. So probably, it's only about five, six months into Emily's life where I think, not only I, but other family members as well, have agreed that there is something that is worthy of a deeper investigation, we need to push harder with the professionals that we've been seeing. And in terms of fixing things when we've got the diagnosis. I think that's where I've started doing my usual thing of 'let's try and see how we can fix this'. So we jumped on to internet, again, and found out how the therapeutics progress is happening. And what's actually happening in that domain? And what's possible, is it complete science fiction, or is it not? And I remember watching that keynote presentation from a scientific event where different scientists and pharma companies were presenting their progress, the latest progress updates on Angelman syndrome therapeutics. And the keynote is particularly good because it starts from the introduction into what the syndrome is about. And then it goes into all different sorts of therapeutic strategies that are in progress right now. And some of them are already in clinical trials. And I think since the day of diagnosis since watching those, that particular video and many following that my mind has switched from almost like the bypassing the the worrying phase without knowing what might be wrong, from not worrying that much, into 'Okay, well, this is pretty bad, but there is a diagnosis and there are people who've been working on this for 15 years, so better now than 15 years ago', given the slowness of the progress, but progress is accelerating. So it's actually all feasible within I don't want to give a number now but back then at felt like just about four more years. And we'll have a therapeutic maybe now I'd give a slightly longer prognosis into into that. But I'm still hopeful. So um, yeah, I'm that stereotypical I'd like to fix things. And now I have something concrete to latch on to.

Claire: 35:18

It's interesting that you mentioned the word hopeful there it's nice to hear that, because that's sort of what we're looking for to see if people can find hope in these situations, because sometimes they can feel so, so desperate when you're in the middle of them, you can't find that. What would you say you've got Irina, as far as hope goes?

Irina: 35:31

Yeah, I think pretty much the same, right? I mean, I'm probably on the more pessimistic side in terms of the timescales, I think it's not going to be next couple of years, I think it's going to be longer. But I think it's having the opportunity and being part of finding a therapeutic, even if Emily, say would benefit from it even even partially, right, because she probably by the time, there is some kind of therapeutic should be, I don't know, whatever, 5-10 years old, and even realising that if we help to make it happen, it makes me feel very excited, because I think it's something that you think about other parents getting this diagnosis, and you think, if they could have that hope, and being able to have that potential cure, or even some kind of treatment, makes me feel, happy probably is a bit of an overstatement, but definitely feels good. Making sure that we're doing something to make it happen.

Claire: 36:31

Do you have words of advice or encouragement or something you would say to a parent that maybe was more fresh in getting that diagnosis?

Irina: 36:38

I would probably say that if somebody could tell me that, What were those, for both of you, those those sort of main I would adjust my expectation that I will survive it somehow, when Emily was just diagnosed, I probably wouldn't believe them. But I think one one year down the line, I would say I'm doing quite well, in that respect, probably readjusted a lot of my expectations. And I'm not doing badly mentally, which is very important. But I think before Emily's diagnosis all throughout her first year of life, I just, I, when Vlad would confirm it, I would just go into him crying and saying 'I can't do it'. I honestly thought I can't do it. And I just kept kept saying that because I thought I can't do it. But then you do, right? you have no choice. You have a child who needs care. And you do it. emotions, when you found out the diagnosis, what would you say that emotion actually is?

Vlad: 37:35

Well my emotion was a memory of Irina's reaction because she was familiar with the diagnosis. And I was, like 30 seconds into Googling about it. And my reaction was the based on Irina's reaction, she was pretty devastated, then it set my hopes pretty low in that particular instance. Luckily, a couple of hours later, once we've finished watching some of those conference videos, it's it's recovered to a better state. But yeah, it's tears and uncertainty and having to explain what we've just learned to Irina's mum as well. Irina did that and I think, pronouncing what the diagnosis means is also difficult, difficult thing and sharing this with other relatives as well without understanding much about what's about to happen. And then in our particular case, because our our heritage is, is Russian, so we have many relatives still living in Russia. And when you Google the syndrome using Russian search terms, and you figure out what's happening in Russia with families and people with Angelman Syndrome, it's quite a different situation, both with regards to care diagnosis and the way families survive, compared to the more developed West. It's another context to take into account and helping helping everyone to understand what that just the diagnosis is to begin with taking trying to help the relatives understand what it's about, without them being getting the right slightly wrong picture if they just have the Russian internet side of things. Yeah, and then there is another element of the way how we found out, which is probably a combination of anger, baffledness. How this could have happened to begin with?! We found out about Emily's diagnosis from an email that was forwarded to us by one of the doctors and it was an empty email, just a forward of the lab reports there was a PDF file attached, and in that PDF file, there is a lab printout that says 'significant anomaly discovered chromosome 15, uniparental disomy'. And that's it. So there was no commentary is just a forwarded email. And this is how we found out. So I thought, well, this is usually something that probably doctor does in a, in a room with a decent explanation of what actually means. Information wise, we were okay ourselves because we we can Google our way out of most of uncertainties, but other families who are not as digitally literate might have been significantly negatively impacted by this way of delivering the news.

Chris: 40:43

That must have been, surely that was an accident? Was that was there an apology?

Vlad: 40:48

Yeah, I think I think it was not explicit, but some indirect behaviour change, I think, is probably a sign of acceptance, that it's not the way it should have been done. But I think on a pragmatic level, we're fine. But in other That was really good to having certainly demonstration of the people, in other circumstances probably wouldn't have been fine. And maybe that might have delayed their discovery of what actually means for quite quite some time. But yeah, it was there was one of the elements of'how is this? This is pretty important. Why is this a forward on a Friday evening?' I think what we found out through joining Facebook groups and reading the charity websites and watching hours of scientific conferences in the evening, and weekend alone is better than any paediatric neurologist could do. Because there are so many disorders out there, they wouldn't be able to provide as much information or prepare themselves to the same level of depth of coverage, as we did do ourselves. So the wealth of information about what to expect and how to cope and what tips and tricks there are, it's coming not from the state, but from other parents around the world. One of the things that help mentally, is seeing those Instagram profiles of more active families who are who have been quite adventurous, outdoorsy, and very, very active before the child with Angelman Syndrome. And then as the child arrives, and they go through the hardships, they still maintain their lifestyle that they had before with adjustments, of course, but the life continues and examples like that, and examples of other parents with kids who have managed to retain some of the elements of that pre power of community really just sharing experience and seeing diagnosis life, I think that gave us quite quite a good what can be done. I think compared with getting the boost. Like for example, the charity where the UK branch of that global charity called FAST Foundation for Angelman Syndrome Therapeutic, the family who have founded, they have three kids and they continue travelling the world and seeing things and having experiences, and them talking to us, I think has made a such a significant positive contribution to our stabilisation/recovery path. That's hard to describe because we thought that with Emily's diagnosis, this is it in terms of as far as our like previous life is concerned, there is it's repairable in how we lived before and we thought that it will be the opposite of complete opposite, no travel, no enjoyment, nothing at all. And these guys, and they're examples have given us hope, and we're grateful to them for that. So I know that our genotype, which is the UPD genotype of Angelman Syndrome, that, as I mentioned, is quite rare, is in the middle of severity ranges. So our advice is probably not going to be for everyone. But we've seen so many examples of families who continue enjoying their life in a new way of enjoyment, that it's definitely worthwhile knowing pretty early post diagnosis because otherwise you will picture your own vision of reality based on only doom and gloom. And it's so easy to do that. So it's super important to see the examples of life continuing and being an enjoyable with difficulties but still enjoyable. diagnosis, whether that was a mistake or not just you know, it removed any opportunity to ask questions. It just left you with lots of questions. I think one question in particular that we regularly talk around on this podcast is the question 'Why?' and for either of you. Have you spent much time if any time at all in just questioning why? Why us?

Irina: 45:03

I'll probably say, and I've never had the question in my head, I know like quite a few friends of mine, they were saying, 'Why didn't happen to you?' in terms of, like, not not actually asking why, but the more kind of sympathising and I never had that question, because then you have a question why other people, I don't know, like you guys, right, can't have children or why other people have, I don't know, children, and then children have accident and die? Or people have disabilities, right? There is never an answer for this, right? This just happens. And how am I can't really explain it is it happened to us something worse could happen to us, something bad could have happened? Why us? Have no idea. I don't think there is an answer for that. And it wouldn't be any better if it happened, I didn't know, to our neighbours or friends or whoever, right? It's, yeah, never a good thing to happen to anyone, but things do happen.

Vlad: 46:03

Yeah, my immediate reaction to question 'why us?' is 'why not?' What are we saying? So what's the philosophical system of coordinates where there is a consequence element to this situation? If, if it were a non random condition, it probably be a different story. But since it's a completely random thing, just respect it as chance.

Claire: 46:29

You mentioned about, you know, watching other families, and then being able to do things like travel and stuff that you thought at one point might not happen for you, what kind of things bring you, as a family, joy? What sort of things would you like to do the three of you, that have been maybe unexpected or expected that are just really joyful?

Vlad: 46:45

Emily seems to like just a, she's a really restless kid. So having her lie still for a little while is a special event. And sometimes when she wakes up in the morning, she's not that active, and she's quite happy to just lie with us in bed. And if we don't have to go anywhere, that's actually quite an enjoyable time because she's, she's just with us, and we're laying down and it's, it's nice. And then five minutes later, she already wants to go so the day-the-day starts. But erm, what do you think Irina? I think we can certainly confirm that we can still enjoy coffees, we can still meet friends and that Emily is charming everyone with her smile and beautiful eyes, which she got from me!

Claire: 47:37

I don't know, I've seen her, and she looks a lot like Irina!

Vlad: 47:40

It's the eyes, though!

Irina: 47:41

It's hard to actually answer the question in terms of

Vlad: 47:41

Yeah, it's so funny. Sometimes she'd be like, upset what actually brings our joy, probably yeah I can relate to the points that Vlad said. But in terms of additional things. I with something or angry with some toy. And she might be in would probably just say, hugging because Emily's, yes, because of, but also part of Angelman Syndrome, right, she likes she loves huggin, and kind of if Vlad and I would kiss or hug, she would like, at the same moment, she would feel like the middle of a cry. And then Irina and I start hugging and she's missing out and she would come to us and, and let's try to hug us and kiss us and want to be part of that. So that's probably something I don't think that healthy kids do as much, because Emily's just 100% of cases, she would do that. kissing just to demonstrate, as a test even, in front of Emily and she interrupts her cries and like sobbing and then turning into like smiles and love as she crawls towards us, then goes hugging. And then that's like, this is a really strong thing that I don't know, again, how genetically it works, but the affection element is definitely there. So and we want to think that it's because she likes us. So we kind of don't know, which what's the proportion of the genetic situation versus her real affection for us. So in the moment, it feels like it's just all genuine affection, so we'll take that.

Claire: 49:11

So I saw on one of the links you sent that it was just giving link that you're doing some fundraising for something called FAST. So do you want to tell us a bit more about that and what that looks like?

Irina: 49:19

Yeah, so I've joined FAST UK board earlier this year, and this is it's the Foundation for Angelman Syndrome Therapeutics, one of the key organisations in the UK who is raising awareness about Angelman Syndrome and also doing a lot of fundraising to facilitate the research. There's currently an ongoing natural history study who looks after 40 patients and how the disease progresses naturally. So then once there is some kind of therapeutic available in the future, it can be compared to the natural course of the disease. The FAST in the US is very, very active and they funding a lot of research in the space of Angelman Syndrome and looking into the potential therapeutics.

Chris: 50:05

Has that helped give you a focus?

Irina: 50:07

Yeah. And actually, I've watched that documentary the other day. And I think it's pretty much your coping mechanism, like you're doing something so, but on top of that, obviously, we hope that it will bring some something into actual therapeutic but it does, doesn't make you feel like he, you know, sit just sitting around and, and just accepting this happening to you. You're trying to change it.

Chris: 50:29

I think if there's anything we've learned from speaking to the two of you, it's that you're not sitting around!

Irina: 50:34

[laughs] That's probably true.

Claire: 50:37

Is there a reason why it's called Angelman Syndrome?

Vlad: 50:40

It's the surname of a British paediatrician who was the first one to describe three cases that he found throughout his long career that had common symptoms. So, yeah, it has nothing to do with angels!

Claire: 50:57

So we're gonna ask our last question, what's your Herman?

Irina: 51:00

I was thinking about that. And I will probably say, truly value what you have, because I think there are so many hardship that families with kids just general with disabilities have, but you also have good things right, for example, my relationship with Vlad, right, it's something that I will say not many people probably have, we share all the hardship. And generally, I don't know love each other, a lot. So I think having that special relationship with with another human being means a lot. And I think, then having a job that takes my mind off as well, is something that I really appreciate, and then having the community and friends who are very supportive and in our journey, so really emphasising and focusing your mind on the things that you do have, and I think actually puts everything into perspective that you just start valuing things more. So I probably would say that out of this whole situation, that became something that I tried to do on a daily basis and not really complain about small things, but focus on things that are really important.

Vlad: 52:07

Mine would be a phrase, which in Russian sounds as "Все познаётся в сравнении". And the literal translation is'everything is discovered or understood in comparison, or in relation to other things'. And it's the phrase that my mum used to say so many times in my childhood, so it's imprinted in my brain, that whatever condition you're in, there are many people who have it worse, and many people who have it much better than you. Whatever it is, there is a spectrum there. So it definitely has helped me through hard times. It has also kind of stolen away my ability to celebrate things properly![laughs] Because like, 'Well, it's a good promotion, but other people have it even better so...' [laughs] But it helps with the negative effects really well, because yes we've lost something here, but compared to families who have also lost this and have additional issues, we're in the better states. So it's the calibration that I've taken from my mum and I'll probably pass on as well. It does help to understand what is the range of the possibilities so that you can adjust your emotions a little bit.

Chris: 53:31

I'm often unsure about the pros and cons of comparison. But Vlad does put it really well there saying it does help to understand what is the range of the possibilities so you can adjust your emotions.

Claire: 53:41

Thank you so much to Vlad and arena for sharing your experience with us. We know it's going to help others in so many ways. If you want to follow them on social media, we'll put a link to their Instagram feed in the show notes as well as a link to their JustGiving page and more information about FAST.

Chris: 53:54

And for more about The Silent Why podcast, Claire's weekly blog and to see our growing number of guests, visit the www.thesilentwhy.com or follow @thesilentwhypod on social media.

Claire: 54:04

If you'd be willing to gift me some financial encouragement, I'd really value that. I've got a page on the website that explains how you can support me in my full time blogging, writing and podcasting work to help people with loss

Chris: 54:14

And if you want to help educate others about podcasts(www.buymeacoffee.com/thesilentwhy) and how to listen to them, you'll find a page of guidance you can easily share at www.thesilentwhy.com/listentoapodcast.

Claire: 54:23

We're finishing this episode with a quote from Geraldine Renton who is raising a son with Hunter Syndrome."You are now in a secret world. You'll see things you never imagined ignorance, rudeness and discrimination. But you'll also witness so many everyday miracles and you'll know it, you won't think a milestone is just a milestone, you'll know it's a miracle and be present for that moment. You'll treasures things most wouldn't think twice about. You'll become an advocate, and educator, a specialist and a therapist. But most of all, you'll be a parent to the most wonderful child."