Talking Genomics with Patients
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Talking Genomics with Patients



hello and good evening I'm scientific director of the health education England genomics education program and on behalf of the genomics education program and progress Educational Trust I'm delighted to welcome you to this event this evening which is all about talking genomics with patients this is part of our why did you know MIT's conversation week of action campaign and I really hope that you'd be interested in finding out more about what we're doing in this week and so you can access information about this on our website so without further ado I'm going to hand over to dr. Christian patched who likes Lou's Chris here and she's one of the trustees of progress education educational trust and she's going to tell you more about how the panel discussion is going to go and a little bit more about the event tonight Chris thank you all for coming that's the first thing to say I'm Chris patch as Annika said I'm a trustee of progress educational trust I'm also a nurse and genetic counselor and when I started in genetics we had virtually no genetic tests and what we did was talk with people and we listened to their family histories and we evaluated their risk and we really had conversations about what that might mean there's huge changes happening there's huge excitement there's enormous amounts of new science but it's still at the heart of it what we need to have the patience is conversations and hopefully with the help of this wonderful panel we can get some conversations happening so I'm going to leave them to introduce themselves very briefly and then the format is the genomics education program are given me four questions and I will ask the questions to the panel in turn and we'll see what the conference what conversation happens after each question I will give a pause if if you want to raise questions or you know extend the conversation and then we'll go on to the next question but hopefully we'll have a bit of time at the end to to wrap up so over to the panel to briefly introduce sells my name is Claudia I am I've come from Winchester I have three boys burden who's 12 he has ADHD I've got chase you seven and Trent who is our Swan he's our undiagnosed boy he's nonverbal he's autistic he's just now developing epilepsy he doesn't eat he's half a sensitive and yep he's our medical mystery hi I'm Selena I'm on the hundred thousand genomes project for myself I have a rare neurological disease called dystonia which is reasonably well under control most of the time although couldn't say that today and so hopefully it'll behave while I'm while I'm here tonight and I'm on the project to try and get answers about the disease for myself and also future generations my family good evening I'm Charlie and I come from Cambridge so I've traveled on my train this evening I have two children Imogen and Jasper imagens six and Jasper's one both of them were born prematurely both of them have severe cerebral palsy and Imogen her particularly severe form of epilepsy called West syndrome Jasper now has some sort of we're not entirely sure what it is but it said it's some form of epilepsy Imogen was on the deciphering developmental disorders study and if you heard about sort of a prerunner to the hundred thousand genomes my wife and I and imagem are then enrolled onto the hundred thousand genomes project because we couldn't find anything 3d DD and then Jasper has been was enrolled into a very fast turnaround project called the next-generation children sequencing project at Adam Brooks Cambridge University and we still haven't found anything so we you know doesn't mean it's not genetic it may well mean that we're just not looking the right places in the genome thank you all of you it's just by chance I think that none of the panel have yet received a genetic diagnosis although they've been very active in taking part in research but that's a reality for many of the families that we see we suspect there's something genetic in the family but sometimes we can't find the exact link that's at genetic fault but what I want to folk sona's is really the conversations that you've had with health care professionals in for some of you some very long journeys so shall I start with you Claudia or should I start with you Charlie so can you tell the audience and myself anything about the journey you've had to genetic or genomic testing it started well when Trent was really really young and I started with him screaming non-stop and he would pass out after screaming so we'd take him into the hospital they'd be oh no he's just a baby easy reflexes but being my third child we sort of knew something was not right we have been through many many tests with blood tests MRIs more blood tests lumbar punctures more blood tests and nothing has ever been able to answer why Trent is like ears we have the many diagnosis so we have the autism we have now the epilepsy we know he doesn't eat we don't know why he doesn't eat but the overall explanation of why Trent is like years has never been answered and then we found out about the hundred thousand genome and when you're basically told that's a there's nothing else we can do unfortunate your charge is going to be undiagnosed it's quite a scary thing to then found out about the hundred thousand genome was was fantastic to think that there was another hope another sort of Avenue that we could go down there could potentially explain about him yeah so it was just basically to try and get an answer in and and have an explanation about why he is like he is and what kind of health professionals did you see in this journey was it complete yeah pity we've had pediatrician neurologists geneticists we've had a whole host of therapists yeah just a whole host we've been quite lucky done where we are to have a fantastic team around trends Sabina so for yourself I guess have you how what kind of journey have you had and so I started with the symptoms of dystonia about four and a half years ago I think um a few other members of my family also have dystonia so it was um diagnosed I fairly early on and I was asked by my neurologist if I wanted to take part in the hundred thousand genomes project last year and have my blood tests done in July so it's very very early in the process hoping for for some results but nothing nothing backhoes yet so it's all fairly new and you talked about some other family members having a diagnosis so you sort of got a diagnosis what difference would having the knowing of the actual genetic change or genetic fold at this stage it would make little difference to me I guess and what I'm hoping is that um a diagnosis under the 100,000 genomes project will help them to identify similarities between my family and others and hopefully develop some sort of treatment at the moment it's very difficult to treat and yeah I hope that it improves improved life for for people who suffer worse with it than the others okay so there's a wider vision of wanting to help other people like yourself yeah with the same problems and Charlie you've had a difficult journey as well with your children yes yes so as I mentioned my daughter was born prematurely at 30 weeks she was in intensive care for a month and became home and everything seemed to be normal everything was fine and it wasn't till sort of six months after she was born that we noticed that she'd stopped doing certain things she'd stopped smiling and giggling and she'd sort of screamed quite a lot during different parts of the day and we went to the doctor and we were told it was reflux which it's I read there was a good paper published last year which talks exactly about how often pediatric epilepsy czar often misdiagnosed as gastrointestinal reflux anyway so we were prescribed some gaviscon that didn't do the trick and then we noticed my daughter one day just started making these curious movements sort of flying that do that with our arms at flight and her legs to do the same thing have her eyes would roll into at the back of her head and her head sort of moved to one side so we knew there was something wrong we videoed it we took it to out in bricks where she was actually diagnosed by so-called dr. Alistair Parker who luckily for us is one of the key he guys who knows about these sorts of epilepsies diagnosed with something called West's syndrome or infantile spasms and he put her on a clinical trial and that stopped her seizures within 24 hours but at the same time he asked us if we wanted to go into a genetic study we had a choice of two either the dose surfing developmental disorders or speed and I knew about the DDD study because I have just happened to work on the genome campus so amid rumors put onto that as I said nothing was found and because of that she was put onto the hundred thousand genomes and nothing was found and it wasn't till until actually the day of the 12-week scan of my my who would be my my little boy it was literally as we were going in for the 12-week scan I had an email pop into my phone that said your results come back 400,000 there's nothing that we know it's negative and then unfortunately the same thing happened with Jasper he was born prematurely and two months in intensive care and then that was when he was know that they they could see on his but on his brain scan that he had this this brain damage so can I just ask all three of you it's pretty a long time ago but when when you first heard the term this might be genetic what did that word feel like oh we didn't know enough about it yeah to be honest with you and all the sort of tests in there we did we did a genetics test which was I think just a very basic tear when that came back with no abnormalities we like okay well this is not that and it was it was strange to think walk for us you don't know enough about it that in 2019 there so so much that we don't know and it's it's fascinating but on the flip side scary and sad that we don't know enough about it yet but yeah we just I didn't know enough about it to be honest with you and it's been different for me I guess compared to the others and really because there's so many members of my family that have the same or very similar varying symptoms of the same the same disease so um it's not a surprise that there's a potential genetic link and I think it'd be nice to to get that confirmed really because I think it's fairly obvious when there's so many of us they've got similar symptoms yeah and you work in genetics I hope yes it's very different because before I so I spent most of my career and while my career working for the Sanger Institute which is responsible for generating around one third of the human genome so I spent a lot of my career in genomics and actually spent a lot of my career actually looking at Mouse genomics and so for me genomics was very much a career interesting but I never really saw the the clinical side of it and it wasn't until my my daughter developed this terrible epilepsy but I suddenly saw the the benefits of investigating her genome and for me that that led to a complete turnaround in my career as he probably seen a my biography I've put all my efforts now into researching neurological disorders and that's why now we're for who I do so you have met lots of health professionals in your journeys yeah and I know you you've had these questions primed to you so it's a difficult question to ask but can you give an example of a a positive well should we go the less than positive encounter first and then the positive one so the lesson positive we we joined a hundred thousand genome in November 15 and and referred to the project by a neurologist in southern in Southampton and since we had the the blood take in that and then we had a second MRI scan with Trent because he sort of what we thought forgetting things we had had a PBL periventricular leukomalacia diagnosis from the initial MRI scan that we had when Trent was little and when the subsequent MRI it came out that he doesn't have that anymore so we were very confused and when you get given a whole lot of information at a other through a phone call or at an appointment it takes it's a lot to take in so when I try to phone and urologists you just to ask them follow-up questions I never got any feedback she never phone back so I literally found it for eight months maybe once a week sometimes twice a week to try and speak to her to ask these questions from the MRI scan and then we had our follow-up appointment our your routine yearly appointment in January 18 and when I walked into her office there was trained a letter on on her computer screen and I said about the hundred thousand genomes I said oh is that his result and she was oh yeah and the led to his data September before so it came back with no no result but it could not have it could have been a results it could have been a therapy that could have put in place whatever it may be and that that really threw me because it was sort of who who has to feedback to us from there from the project at the referring clinician or as the genetics guys she couldn't answer that it was just yeah it was nice when you ready for Seoul on your way it some sort of me back and then you walk in and realized that I had the feedback for four months yeah it's yeah yeah in this case there was nothing to follow on from that because there was no result but it could have been a different way yeah yeah okay and a positive encounter many um yeah we have an absolutely fabulous pediatrician dr. Rebecca Farris in the Royal Hampshire hospital in Winchester and she's been in our corners from when it was a very very young asked her questions her secretary her team that worked with our phenomenal so to have that when you've got a question you can phone email them they get back to you within a few days that's yeah we are lucky to have her so that's about the timely communication yeah I mean I don't expect when I phone a doctor or whoever it may be to get a phone call straightaway appreciate you know they're very busy they've hundreds of but within a week at least not not even eight months so yeah yeah and you've you've got quite a team looking after your four children part from sort of genetic specialist is that knowledge you'd want your team to have about the impact of genetic diagnosis or or the possibility of genetic diagnosis I think being an unknown we don't know what we can put in place for trends so we are as I said very lucky goes to fantastic special needs school in Winchester called scheppers down so they're very knowledgeable we have an amazing team he's got physios and speech-language and pediatrician we've got you know loads of people around them but when you don't know what to do for him you know we do as much as we can we do what we think is right but when you don't know that that's the worst thing is the unknown and Savina a less than positive conversation yeah I guess we were talking about this just before Anjali um for me and my journey with dystonia has been quite short I've had two neurologists in that time the first one was and older than the second one and never discussed the genomic side of things with me which now I find very disappointing and I was with him for about three years so and it's just disappointing that it took for a second neurologist a younger neurologist to come to come along to recommend that and and also the the thing that we were talking about just earlier is is the lack of understanding that I know me better than maybe maybe maybe they do and I think that's probably something that that most patients experience it at one time or another but it's I guess I live with with me every day and it's difficult for a neurologist to to understand what goes on in my body in a very short short appointment and did the first neurologist did he know about your family history yes and had seen my cousin and as her neurologist so yes right did in the conversations with you did he put that family history together at all I actually requested for him to be manual at neural just at the beginning and the reason I requested that is because he was also my cousin's and and I spoke to him about that very early on but it was never really never really recognized as a as a relevant discussion yeah my my um my current neurologist is a breath of fresh air really I'm very much into trying to find natural ways to improve my symptoms and she's very interested in in listening to what I've been doing and and how I feel that it's helped me and she was a person that suggested the hundred thousand genomes project so yeah very positive around from from hearing I know all three of you are great advocates for the hundred thousand genomes project and you do a lot of work you're also very critical friends we have a marvelous participant panel who hold us to account very frequently but you keep coming back that even though you you knew those something in the family and you knew that you had it because of your symptoms that you still wanted to know more about the genetics of it in genomics of it yeah I mean I don't have children at the moment and would like to have children at some point so and it would be very interesting to to know what the likelihood is of me passing this on to my own children and I have a niece who seven years old I'd really like to know um you know whether what the chances are of her developing that illness because anybody that has got this the dystonia symptoms in my family tends to develop them it in their mid-30s so um obviously the children in the family we've got a long way to go before they get to that point so it would be be nice to know for them yeah and if nothing else yeah Charlie will go for the less than positive first and then the more positive one afterwards well so first of all I'll say that my positives are wonderful but the negative was really just a catastrophic day it was the Saturday before Christmas 2017 and we've gone into intensive care and neonatal intensive care two months after Jasper had been born everything was fine we didn't know anything other than that he was going to be coming home in two days shouldn't going to get home for Christmas yeah obviously we were all really excited we've got to two months everything was fine and we were coming home and we got in and I mean everyone knew Imogen in intensive care because she was there in her tea it's called a wizzy bug but it's essentially a wheelchair a motorized wheelchair for very small children and she was off round the world and the nurses would see her and play with her and what have you and she was very well known so everyone knew that we'd had a difficulty with our first child so we'd got into Jasper's ward and I've noticed that Jasper had his third and final brain scan up ultrasound just that accuracy I said to the nurse everything fine I guess we can you know that was done yesterday and she said Oh actually the consultant needed to speak to you about that okay that doesn't sound typically good anyway I went to the the desk where all the nurses were and I said I understand there's a problem that the consultant needs to speak just can you help us Jim what does that mean and anyway in the meantime my wife had had to go off to the milking room and because Imogen has race so she wasn't in the room at the time the someone had come in to speak to me and he has such a strong accent I couldn't understand what he was saying he says something about assists in the brain and and then I said what can you write it down and he came back with a piece of paper and he'd written down what it was periventricular leukomalacia and I was just oh my god what on earth does this mean I mean I I'm not a clinician at all but I could piece together what those words meant and the not mean that was not good news and they said well the condition that the consultant can come and see you in about five minutes but in the meantime my daughter who's got very severe needs had to go and house own to eat if she doesn't do if she doesn't go down to the cafe to have her glass of water in her meal then all hell breaks loose and there's nothing you can do you cannot have an adult conversation with her in the room so we had to go off for an hour then come back and the consultant then couldn't see her about another hour off for that so we were waiting in limbo for this to happen and eventually he did come through and then he broke the news to us that Jasper had this this terrible brain damage and it was just one catastrophe after another because we we we were left waiting they knew our situation with our child menu it was just one thing after another any for that day a second bad thing were happened we had Imogen had to have a 24 hour urine test about a year ago because she also has severe kidney problems that was a that was considered to be critical so that was a year ago and we still haven't had our results back though is that I mean we'll come on to sort of tips for health professionals in the next question that they are terrible situations that just build on each other is there anything very simple that could have been done that could have perhaps well when the news is broken to us about Imogen it was done incredibly well it's a you cannot break that news well it's not an easy thing to do but everything was done we didn't obviously we didn't know what the result was going to be we had no idea was gonna be as catastrophic as as our neurologist told us but everything was done in order and we were only given the information when we were together and when we was the right time so instead of someone coming to give me a piece of paper saying Imogen Scott west syndrome we were sitting with her by her hospital bed and dr. Alistair Parker came he sat down with us he drew the curtains he to other younger doctors with him and he spoke to us quietly but very firmly and told us what had happened what he was going to die now but what what the diagnosis was and that we had the option of to go into clinical trial did we want that and it was very very methodically done and very very tenderly done even though it was I mean this is life-changing news but the situation with jasmine is just absolutely chaotic you know nothing should have been said to us until the consultant could have come in and taken us off to a room but we just break down and in fact the nurse who worked in intensive care said she'd never seen two such broken people in all of her career and that could have been done I mean there was another parent in the room at the time it was just it was just awful just horrendous everything that could have gone wrong just went wrong yeah but the positives yeah so obviously the positive dr. Alistair Parker I name-dropping him but he's just an amazing guy Imogen had a subsequent sweet seizure and I emailed her neurologist and the next morning he came up to see us in the ward you know that's not something that he necessarily out a man big Janka our community pediatrician we have her mobile phone number we Jasper had suspected West syndrome a few months ago we found who said bring him in straightaway I'll make room for you and then dick she managed to make room to have an electroencephalogram donor upper Adam Brooks and then there's Lucy Raymond who is our clinical geneticist she managed expedite our genomes out of the hundred thousand genome study and get our negative result done even though it was negative and possibly there's something else in there she went tirelessly with Marc Caulfield because she knew my wife was pregnant to get don't she went way out of what she had to do so my positives far outweigh the negatives because you know unfortunately these things happen don't they unfortunately sometimes these things just get out of when something gets out of control you can't then bring it back into so I mean it strikes me in these conversations that we've – we're talking about genomic conversations but actually we're talking about difficult conversations and they're difficult conversations that as I don't know how many people in the audience are health professionals but they're difficult conversations that we as health professionals can have all the time genomics may add another dimension but it's still a difficult conversation I mean you've talked a bit about your sort of tips but I just go back to Claudia and say what in terms of difficult conversations which you probably also had many with health professionals what tips would you give but I say there's a lot of people in the audience that a lot younger than me so people miscommunication right so we've had a little palsy diagnosis we've had a which was taken away we've had a very vertical illumination a diagnosis which was taken away and then we've have a we don't know what it is but when when as I said before when you get that information and they sit down they go oh he's got PVR and this is it and you walk away dr. Google becomes your friend because you haven't got all the information from the doctor at the time it's overwhelming and then when you try and follow up or try get more information it's a communication and we rely so heavily on our doctors and therapists and teachers who who are in this world we have no special needs in our family my husband site or Martha this is the first time we have a child or a person in our family with the sort of things so this is a whole new road for us so when you when you want to be able to have a conversation with someone and you can't speak to them it's equally frustrating it's heartbreaking it's just it's really stressful when you're trying to get your head around things you know nothing about and then you do go to doctor your doctor Google which is the worst thing to do so yet communication is huge and just just checking in so you know we waited over two years I understand the process of do you know sequencing in that when you're waiting for so long just to check and go you're not forgotten we don't have an answer yet but no we're still here ask this question whatever it may be Kim Kenya communication in any sort of form yeah is really important for families who are sitting there in limbo mm-hmm yeah the samples not in the fridge No it's in the sequencing center yeah yeah okay Sabine er in terms of sort of top what what makes a good communication encounter as it were what do people have to do to make it work better I guess for me so I am whenever I go to the neurologist I feel quite lucky that my symptoms are reasonably well under control because there's always people around that are far far worse off than me but when I sit in that room with manner ologist and the thing I want them to do is to understand that what might be insignificant compared to their previous patient might be really significant to me so those things that seem small when you've had a patient in for the appointment before who's much sicker than me doesn't mean that my symptoms aren't significant to me personally it's understanding that the impact is different to different people and it doesn't mean that they're any those symptoms are any less important even though they're not as severe Charlie you've is there anything else you'd like to add to what you've clearly described both good and bad when we had our own initial batch of tests thumper imogen I was standing in the in another Ward same hospital and there was a young lady with her child who was clearly very seriously ill with a neurological disease I didn't know what it was and she and I'm gonna put I don't know how to put this politely she was clearly from a disadvantaged family and I started speaking with her and she had one of the most eloquent conversations with it I can remember she started telling me all about the genetic diagnosis that her child had had and telling me about there have been a deletion on the pea arm of chromosome 10 and which genes are involved and I must admit I was so ashamed of myself to judge her like that it was it was and I will regret that for the day I die so what I think is interesting is that you can motivate nothing will motivate you as much as you Bing L or your child being L and you can then you will you will find out and become the expert on your disease on your disorder and as a doctor as a health care worker or what have it you will find you or have patients coming to you who will be world leading authorities on their disorders and they will know about genetics and they will know about genome sequencing and they would expect you to know so I suggest if anyone here doesn't have much of a genetics background they they go back to their books in terms of health professionals generally I mean do you have any advice for them in approaching these difficult conversations I think you've got to know the audience as well so as I said we we've never been in a special-needs world so when you get give it a diagnosis it's terrifying no matter how small you know it might be a small diagnosis but to a family it can be huge so I think if you're going to be able to if you're going to be giving that information hopefully face to face I think you need to have the time to be able to sit there and let someone absorb the information answer any questions or perhaps if you can phone a week later and say it's been a week you have any questions it's just being available and I know again obviously we know the schedules of these doctors and clinicians and that have but when it's something huge for a family to absorb what it you know to take being available to be able to answer question or have someone your team be available they can't answer questions I mean that's a big thing I would often find myself saying to patients well I don't know the answer to that now and that's is that okay hundred percent but then find out and come back to me I don't know and then I have to go dr. Google that's always worse but just you know be there if you don't know it and and I like I said it you don't have to phone me back straight away you don't have to do I have the answer straight away but to be able to come back and say look I've looked into it here's what the answer is is appreciative mmm Sabino I don't whether you've got anything to add and probably less than Charlie and Claudia and because of my situation but um I guess for me it's just about the same as Claudia taking time and but also realizing that even the smallest thing that you say to a patient can really have a massive effect on on the way that they understand what's happening so um for me a a very flippant comment from the first neurologist that I had about or if it was the 1950s would have locked you up in a mental institution and which you don't think about why really why you're in that appointment but when you get home that really is in you know when you're worried about your symptoms and and you know those kind of flippant comments which said any other time wouldn't have that that kind of impact but said at a time when you're worried and stressed and I'm feeling sick is it can really have a massive impact I want to turn this around a bit to try and get some positive impacts but what what posit what's a positive way to speak with patients to speak and to listen more than more than you talk often so I'm from a sales background and I've always been taught you've got two of these and one of these use them in that proportion and the same goes I think you know yes you've got to tell information you've got to explain what's going on but it's even more important to listen to what what patients have got saying what they're feeling what they're they're experiencing yes when I know when I was um I've worked in genetics a long time an awful long time until two years ago was working in a genetic service seeing patients and what was very notable was that both for the medics the doctors in training and the genetic counselors in training and the nurses in training who were coming through that actually as you get more experienced you say less and you listen more and you ask less questions but the questions you ask are more relevant and I think that that's yeah it's not all about the lecture in genetics and you've got 23 pairs of chromosomes and you get one from your mom only one from your dad and isn't this exciting we might find your diagnosis we because you might you're people where people we've got feelings really that's important yeah you might just be worried about your niece yeah you know and actually that's the focus of your discussion you're questioning that day rather than the question about you know gene mutations and stop mutations and frameshift mutation these things what we're gonna do in our wonderful science for you yeah I don't whether you've got I don't think I've really got anything to add to that in fact you even use the phrase know your audience which is exactly so that's what that's what my wife always says know your audience because you have to assess the situation I'm sure every situation is different when you're breaking bad news but yeah I was really struck by your story as well because also you know you about your story about that young woman who was a complete expert in her family's conditions yes extraordinary I mean I shouldn't be extraordinary but because as I said you know nothing motivates you you can do anything if you're well enough motivated but it was an extraordinary situation I found myself in really yeah yeah yeah and there's a lot of discussion and I'm in this sort of education world about people who've got to know about you more about genetics they've got to know more about genomics because they don't know enough so they can't understand it but again my clinical experience is that it's a skill hopefully the skill of the clinician should be in helping patients and families and people understand the genomics and genetics as relevant to their lives and the most amazing you meet the most amazing people who have the most incredible fundamental understanding of what their genetic and information means to them and to their futures and their decisions about having children or that what they talk with their families about or what they talk with their children about so people generally don't need a course in genetics but I think as health professionals such as make a plea we need the course and communication skills to enable us to work with them to understand the genetics and genomics that was relevant to their lives and that's just my my plea to anybody who's training or new in the audience so any more comments or questions from a listen as a hand gone up back there a couple of things really so first is communication I think it's also really important for clinicians to understand the needs of the patient in front of them so particularly if they don't speak English as a first language then always making sure that you can you've got someone there who can translate that information but also a question for the panel is I'm interested in what information you were given to take away I had a very similar experience to you Charlie and I was given a diagnosis on a scrap piece of paper with very little to back that up so of course you go away them to look at the Internet were you given any more detailed information about your conditions and was that accessible so this comes back to the so both sides we had the bad news broken to us one was brilliantly done when one was awful when image when Imogen was diagnosed at West syndrome Aleister came with a leaflet a you know it was actually obviously printed out for this situation he spoke not a great deal just enough and then he passed over the thing for us to read he said he can read that and I'll come back to you a little bit later and you can ask me questions for the second time I think we were just so shocked that nothing really sunk in at all apart from that those two long words periventricular recommendation and then you know what it's difficult it takes a little while to sort of calm down rich saw what's actually going on so yeah nothing more than that really it was just a discussion there was no no pamphlet at all or percolate or anything to be given out so for me I think dr. Google has been my best friend and sometimes not my best friend but yeah I didn't give him very little information so I've learned what I've learned about my condition myself really and from my other family members who've got the same in the same condition and when we were given the cerebral palsy diagnosis I was given a scope pamphlet and that was it and if you been on to scope website when you're just being told your baby's got several palsy it's quite a scary thing then I was taken away we didn't get anything from the PBL and trans just now started developing epilepsy and the only thing that we would give they gave a lot of information we had a chat about it but the only information I was given to take away was that he could die from it and her sleep a piece of paper to say there they could have sudden death so no dr. Google and yeah no no no actual hard and when we've sort of come to the conclusion that undiagnosed never found out about Swan I happened upon it and there are fantastic otters nation for families they don't have a diagnosis so they do know now but they didn't then would all of you agree that being given printed or either printed information or the address of a specific website that has the information would all of you agree that was something that if you in the case you weren't given it would have improved your experience yeah I think so yeah not when when you don't know anything about special needs and you suddenly it said well your child X Y Zed or your child not to be able to go and find a forum or whatever a lot of people that are living with the same thing or have a family they don't have diagnosis yeah it's it's important yeah I'd agree with that and the other thing I would say is often these websites and and leaflets are a very one-dimensional so they describe the symptoms of a particular illness and not recognizing that different people experience different levels of those symptoms so for me I I thought I was gonna you know I've got a cousin that struggles to walk and I thought it was going to be in a wheelchair in ten years time and that clearly is not the case for me but um yeah it's it's it's recognizing that that different people will experience different levels of symptoms yeah I think that the leaf has certainly helped going back to the the the situation you don't really remember a loss and there's something to go back to when the dust settles maybe a day or so late and you got then something which is obviously being clinically approved and I think Swan and a hundred thousand genomes have got some nice documentation which explains very layman's terms the sorts of things you can expect so I think that's the sort of thing that's very very much directed towards erm to patients and I'm even things like Facebook groups or those sort of the social media where you can join talk to other families or or patients who've got who've gone through similar things or what have you you can just talk about things even just just chatting and you never know you may find out some sort of useful bit of information and I know that we have done that sort of things yeah question their time remains a very limited commodity with clinicians unfortunately and it will continue to be like that for years to come number two genomics and genetics individuals the people who actually deal this subject know lots of things which clinicians don't know and likewise clinicians like me know lots of things which the geneticists and the general staff don't know so there has to be a extensive bonding and transfer of information between these two groups of people who actually are men give all this information in a very capsulated and concise manner to the patient so we have these lots of things need to be done to get to the final output and on top of it genetics and clinical world is still not well connected with each other there's lots of things in genes which we know are there but we really don't know what is their function and what how they're going to interpret in clinical world so a we are actually in infancy in the whole world although we have come to 100,000 genomes and probably 1 million journey genomes but we still are not there's lots of information which is still grey grey grey hundreds that understand about the whole the time and we see it where we do try make appointments or that you've got to understand the impact of telling a family your child has got X Y Zed and say okay times up you know I'm not saying that you have to give all the information straight away or you may not know the answer to a question that as we've said before but when you when you're giving it a diagnosis or no diagnosis whatever it may be to a family it's a huge thing and to be available to come back and ask questions it might not you know I might not be able to ask all the questions I understand time is a commodity but when you're dealing with labs here and you're dealing with families who have a child in my regard or you know we don't know if it's laughs with you just to have such an unknown to live with such an unknown yeah it's just we have to be able to communicate and we have to be able to come back to our clinicians and our doctors who are giving us information who in a whole way crushing our world and when you need that feedback or where you need that reassurance to be able to not speak to them as horrible as the sound is not good enough you know it's it's our children or or whatever it may be our diagnosis it changes everything and you know I understand there's a lot more on the panel and what I've learned so far there's so much more we don't understand or we don't know yet and we understand that but you still need to talk to us and that's the biggest thing talking to us and even if you say I don't know that let me go find out to me that would appease me and I take I think the other point is conversations between professionals like you say and recognizing there's a I shouldn't really say this because I'm a genetic professional there's a tendency and genetic professionals to say that's all about genetics and we're the experts in that but other health professionals are experts in their domain and we need to converse with each other a bit more I think I was going to ask are there any other yes and I wondered whether there was any difference between as it were breaking bad news to parents or individuals when suspected genetic element as opposed to you know an accident or something that's just happened some other way so that that's the question I just also like to say two-way communication with medical professionals is just a complete nightmare I mean you know it's it's so often it is just one way and you can get nothing back whatever and it seems as though their whole system is designed that you know you have to make an appointment but if you want to make any sort of response you can't do it and I think that it's a huge problem and with email and all this social media it's possible now but it doesn't seem possible for most of the medical practitioners can I just add as so there's something I forgot to say actually um it kind of comes back to the what you say about clinical geneticists and you know looking into the genes and how you know the genes are so important but also coming back to what you're saying about the clinicians talking to us I think probably forgot one of the the kindest things that our pediatric neurologist did he has some YouTube videos actual when he's he's speaking and I've watched him I'm not a stalker but I do like to ideal I did I do follow mugs I admire him immensely he's the most incredible man and I think ultimately he puts he doesn't it's not necessarily about the diagnosis well for him it's actually making the situation this terrible situation that his patients find them in because he's a pediatric neurologist he never gives people good news he deals with the sitch and house make the situation manageable so when we were in when we were in intensive care given the bad news everyone was oh no he can have to do an MRI scan we'll have to bring you in around Christmas or Boxing Day blah blah blah he as he came in and he sat down said no no we're not going to do that because nothing's gonna happen to Jasper for the next six months I'm gonna send you home you're gonna go home and enjoy your Christmas you're going to dis relax at home and be a family and then we'll worry about it in six months time I thought on reflection now what a brilliant thing to do there's nothing why why waste Christmas I have a terrible Christmas in hospital having all sorts of it's a general anaesthetic for a little boy who's a couple of months old Alistair said no go home nothing's gonna happen in six months and it gave us time to get to know Jasper as Jasper rather than as someone with this terrible MRI so yeah this comes back to what you were saying I think is giving bad news whatever the bad news is any different if its genetic I don't I don't think there's very much difference in all honesty um and the reason I don't there's any difference is you're dealing with a person and a person's life or a person's child's life and I think whatever that bad news is it's important that it's delivered with sensitivity and with relevant information and with compassion and whatever that bad news is and whether it's genetic information or something else I don't think it makes any difference I think we've got to treat treat giving that bad news in in the same sensitive way regardless but is there a bit about whatever information you're giving actually whether it's bad or good news about having the knowledge and also the confidence to say what you don't know yeah I think I think confidence in when you're giving information about genetics particularly and it's difficult I'm sure for clinicians to to really understand everything that there is to know there's so much to know but understanding enough that you can confidently have that conversation with somebody that you can answer their questions or say I can't answer that now but I will find out for you and you know where to go for that information so and yeah there's there's the complication I guess with with genomics is that it's a relatively new field in the in the NHS and you know that's that's a level of complexity on to that bad news okay so the last question I owe the the final Aish question I have and I think we've touched on it already we're have been your sources of support and information like I mentioned my pediatrician she's she's fantastic she's been she knows trends when we go and see her you feel that she knows him she has intercepted the last 10 minutes reading up his file to try and remember him we're very lucky at the school he's in as I said before they're teachers it's a specialty school so they are very geared towards all sorts of different types of children it's one UK have been a lifeline being on the forum be asking a question and having 20 people come back oh yeah my kid that that child those try that or here's a view sensory toy see able to speak to someone who truly understands having a child with no diagnosis or who's going through whatever it is to be able to have that sense of the word but just ability yeah that's the word to be able to speak to them yeah I think you need to find a tribe you need to find the people who understand who can listen and in sometimes it's just a matter of being able to speak to someone and they just listen I don't need you to fix it I don't need you know feedback just to go yeah you know we've been there we understand let it out and no judgment and for me our dystonia society's fantastic they have a lot of really really good information and there's some good Facebook groups and people I follow on Instagram that have some really good good stuff got an interesting stuff and from the genomic side of things being part of the participants panels been fantastic I've learned so much I only joined I think I've been to two meetings so far but I've learned so much about about our genes and how things work and that that's that's been really exciting and interesting for me in this whole journey certainly we take a lot of take a lot of comfort we get a lot of support from other patients or parents who you're going through the same things you've met through special groups whatever personally I take a great deal of comfort through the work I do that gives me a huge amount of support I guess I mean I'm lucky and cursed at this time that I work in genomics so I've got to meet some extremely well extraordinary clinicians and also some extraordinay anticipate me inspiration and again in 100,000 Gina's participant panel Nadine if any of the people out here who who have a who are on it but certainly taking come from speaking with other people and actually having a really big role in the direction that the hundred thousand genomes project took know that it's finished so cons going up now it always is as we approach the last straits hello um so we've spoken a bit about how the doctors have spoken with you as grown-ups who can understand has there been any communication with your older children at all about the situations so that they can understand or has that been left to you to explain yeah completely up to me my six-year-old doesn't understand he was 15 months with Trent was born and or all kicked off so to him Trent's always been like that before my oldest burden obviously he knows things are different but yeah there's Brodin goes to get widgets young carers so they support him in that way but in terms of all the like the autistic diagnosed and they're Pepsi it's it's all down to us and trying to find age-appropriate information and be able to give to him as a child because obviously there's a line between what he should know and what he doesn't need to know because he is a child but both very young and and Imogen is very she doesn't really understand so she for her life is just this little bubble so my question was actually very similar I was just wondering how this was all approach in telling the other members of your family's hopes that your parents and everyone else because it really has struck me a lot how all three of you have spoken about this being very much a family thing clearly this is affecting you more as a family than necessarily as individuals so I just curious if you're sort of left on your own to just sort of tell people what's going on and when it seems often you didn't have a lot of information yourselves okay game because we have nothing like this our family it's been quite hard but it's been interesting the advice you get so it's really hard for a lot of people to get the head around that there's no diagnosis for someone who doesn't he doesn't mean the doctors things like that I think oh it's 2019 they must be able to answer it so when you start getting many advice like camel milk apparently certain shows autism yeah I've had that broccoli so you get all these you start getting a lot of these helpful advice which is not and you get the Oh bless some he'll grow out of it or yeah it's it's again left to us to try and explain to two families in a market Charlie explain tomorrow my families especially older generation that he we don't know why he is like years we may never know why he is like he is and just reiterating that quite often because they're just there and get it and a little bit different for me I guess because my grandma had while she never had diagnosed dystonia she certainly had a nodding head which I think at the time was I think people used to take the making out before a little bit which now seems terrible and but nobody really understood why why it happened so um I'm the third generation of people in my family that have got dystonia so I'm a little bit different because everyone kind of knows about him and understands the basics really not the genetic side of things no yeah and I don't think there's really that my parents very interested but I don't think there's a huge amount of appetite from from some of the other members of my family to to truly understand that side of things but I guess if and if I get a diagnosis back from the hundred thousand genomes then that'll probably become a real interest to everybody I guess do they see it as just something that is in the family yes yeah very much so yeah and and because it's been around in the family for such a long time I guess and there's so many members of my family that have symptoms of varying degrees so so when we had our first genetic test um the clinical geneticist drew out a pedigree I think he was probably just me and my wife and Imogen and said you don't have epilepsy Imogen does it's unlikely it's gonna happen again it was that sort of detail which it wasn't really particularly but when we were enrolled on to the the latest genetic study that the pedigree was really in-depth and went back quite a long way but that was partly because of the conversation I had with my father-in-law so my wife is German she's actually considering Ungar than I am and he'd spent a long time drawing out his family's pedigree tree going back many generations and I was looking at it and I was looking at all the different children that had the numbers now that's odd these people that have you know back in the sort of the early 1900s these families should be having loads and loads of children but these women are having none and they're all dying you know they all drive very early and I'll just chatting to him and said so what do you and are there any other symptoms in your family that he's well my my my my sister's got epilepsy I've got really bad cataracts and cataracts all the way back up through my my mother and break these things down that been stroke and stuff and I was chatting with one of my collaborators at the Epilepsy Society and he asked me the same question about is there anything else you know about and I said well I don't think it's any any relevance at all but my my wife has got cataracts my grandma her father's got contracts all the way back and I could actually hear him take a breath on the phone because he was just publishing a paper about children with periventricular leukomalacia where there's this thing called I think it's genetic anticipation or something where symptoms get progressively worse over generations and these families had had cataracts and stroke so that's something to live for in the future anyway yes also talking about talk talking about things with the family yeah I would also like to acknowledge the work of wealth Swan is part of well Swan genetic Alliance and Radley's UK are all three groups and read disease UK lobbies very hard for better care for families with rare disease in the UK and I'd just like to acknowledge as well in that it's not only just about the science it's also about the long-term future and care for families of rare diseases I think Baroness Blackwood mentioned something about that on the 27th of February the day before read Izzy's Day she's firmly ensconced in the House of Lords now to see it's not keeping the elbows to people to make sure that things because she actually is a rare disease herself so she's a great champion yes a practical level from that as well at genetic Alliance UK we're currently and looking for funding friend to extend the pilot we run before called building where communities which is all about helping families that have had diagnosis through sequencing come together to create support groups to create information to look at how can you and develop research and get researchers interested any other comments questions points of view hi my name's Katrina I'm a trainee genetic counselor here in Birmingham I guess my first question is have any of you had any interaction it's a very selfish question um have any of you had any interaction with genetic counselors and if so anything good or bad about those interactions any particular tips in that situation it doesn't you're shaking your head so it sounds like now and do you feel that that would have been something that you would have liked to have had that option do you feel like that would have added anything to your experiences well so every we we had we had discussions about what our family tree would look like and what the the chances of things happening again would be and we were told it's likely to be a turnover mutation and of course it turns out that ready yeah we don't really know in our case it it probably wasn't a de novo mutation again we don't know but I think it might it was vaguely helpful but on reflection where we we took the plunge again and lightning struck twice a so is there anything do you want to sort of sum up any final thoughts we've been on the on the road now with Trent on this on this journey for five years and we've met some amazing doctors and therapists so although we've we've talked about the lack of communicate what I've spoken about the lack of communication or not knowing things I think it's important to know that we really appreciate everyone that is taking the time to look look at rent in my case I'm um you know who do talk to us who do give us information who do back I corner you know back us because when you're going down this road and you have absolutely no idea which way to go to have someone your corner is appreciated so yeah just just keep talking to us that's it really and I think just I think the whole genomics conversation is fascinating and there's so much more to come from it and and I I think just you know for anyone that works in that field just to carry on with the excellent work they're doing more hopefully in the future helped so many families and you know parents like charleon and Claudia so so I guess you know my ask is just to carry on really carry on talking so in hundred thousand genomes is world leading it just hasn't been done before so no there are going to be difficulties you know still finding our way so I guess it's part it's the patient's responsibility to help drive that I mean I'd like to thank the three of you for taking time out of your very busy life to come and be listened to and also listen to the audience it's difficult to know how to sum this up really because we've had a conversation about conversations some of the things that have come through is timing being aware what is insignificant to one patient could be very significant to another consider your audience think of the person and I think what you've provided is and what the audience have provided as well thank you is the stories that remind us behind every medical problem and behind every genome there's a person and that's really important and we mustn't forget that and also listening and perhaps we ought to be not talking genomics for patients but listening about genomics with patients so thank you very much for coming home and taking part in this event and thanking all of you for taking part in this event thank you

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