Genetic Epilepsy Team Australia’s 2025 Genetic Epilepsy Conference

So I was just saying before I get much more nervous speaking to families than I do to scientific purely scientific conferences because it really matters. You really matter. And, i’ve gone a bit enthusiastic and I have way too many slides, but what I am gonna do is not talk to every slide, but I will share the slides ’cause there’s lots of resources there.

Hopefully that will be helpful for you. If I do this, can you still hear me? Yeah. Okay, beautiful. Not so well, so better here. Do you want my mic, Emma? No, it’s fine. I’ll just turn the thing there. That still works. Okay, beautiful. So what I’m talking about is how we go from a diagnosis to wraparound care and I obviously want to acknowledge the traditional owners of the land on which we are meeting today.

And I also wanted to share that I really feel we could learn so much from Aboriginal and Torre Strait Islander people about their approaches to both disability and holistic healthcare. And I’m very much looking forward to more equitable models of care that bring in all of our First Nations people.

And this slide you may have seen, if you’ve heard me talk before, it’s a favorite of mine, which is really that we need to be listening to all of you. And I guess I wanted to say here, we have been listening and your stories have been heard and they have been valued, but now we must act and I think it is critically important that we move towards these models of care urgently.

And really that is a huge joint effort to advocate to government that this no longer should be an area of medicine that is so underfunded. So I wanted to, start with thank yous as my slides are many and I want to make sure I don’t miss them. So to the incredible team at gta to Ingrid to Catherine and the dear team and also many of my other projects and collaborators.

So this was what I was planning on doing. Just a little bit of a background to me so you know who I am and why I’m standing here as a clinical geneticist, the zebra in the room. Why I’ve been thinking a lot about models of care and some suggestions for next steps. And it was lovely that you mentioned about the zebras.

So the zebra, you’ll see a lot on my slides and it was really because we were taught in medical school that we need to think about the most obvious thing. So when we see some symptoms, we put it together for the most obvious thing. But you’ve heard so often how the path to a diagnosis can be really long when doctors think like that.

And we need to think outside the box and think of all of you beautiful purple zebras. So there you are. So I started my PhD a long time ago. That photo really needs to be updated of me. I’ve got many more gray hairs since then. But it was with new Ang test for a condition at the time, which was called Epileptic Encephalopathy.

And an as we know, we had a change in the name and a newer test, which was whole genome sequencing. And I was looking at most cost effective approaches and whether they were useful and just going through yes, XM sequencing. You got a diagnosis 10 times cheaper. So that was great. And now we have that testing on the MBS and whole genome sequencing was even better.

So that’s great. Lots of papers. And one of the things that came out of that was we really are underestimating the power of our DNA. And this again, was touched on earlier. We concentrate most of the time on that tiny percent that makes proteins. But we need to think not just of the cello and the violins the genes, but we need to think about all of that DNA architecture around it, which is like the conductor of the orchestra.

So turning genes on and off. So that’s all of this dark matter, the rest of the apple. And that’s what whole genome sequencing can bring to us. And this is one of my favorite slides for many of us who come from, I’m from Leeds in Yorkshire. And when we look at the star and we see the Milky Way, we think about the stars and it’s often as geneticists.

That’s when we look at our DNA, we think about the genes, but I said I’d mention about our first nations people for aboriginal people, do you know what they see here?

The emu. Exactly. So they see the shapes in between the stars and that’s the dark immune. And that’s my idea of how we need to be. And we are looking at all of the rest of the DNA. And here’s a little personal story for me. So for my very small cohort, for my PhD that I agonized over overnight, we got an email that said two of those undiagnosed patients had a change in a new non-coding gene.

So you could imagine for me that was just the most amazing breakthrough. Yes. Annoying. I didn’t find the gene myself. But also what it meant is it just spoke and that was, you, that Ingrid’s highlight was about the power of international collaboration. And we must be thinking as broadly as we can.

So in terms of my overarching questions, yes, the best test, I believe is whole genome sequencing. Even better long read whole genome sequencing if you can get it funded. But we still do need these undiagnosed disease programs ’cause there’s new genetic mechanisms still to be found. No. At least half of our families don’t have a diagnosis yet as Ingrid’s highlighted.

And is it useful? We keep coming to that. So I had this slide, which was, remember this is the end of my PhD. So 2019, overwhelmingly everyone that got a diagnosis, it was helpful for the families. It brought closure, reproductive counseling connection to support groups and that power of connection, which we can feel in this room should never be underestimated.

And this story about this new non-coding gene, which has got the beautiful name renew is if you go on and have a look at their, they’ve did a beautiful video for Undiagnosed Disease Day, which just shows these children and the power of that diagnosis after often 16 years and must. So for the clinicians in the room, this is my little poem for today.

I would like you to renew your thinking about your undiagnosed patients. Those are my particular red flags for thinking about this condition. And you need, if you’ve had a non-diagnostic exome, to think about whole genome sequencing or a specific test for renal syndrome so we can make sure we’re finding those patients.

And this was a quote from a family that always sticks in my mind. And again, that was touched on before people, we often make up our own stories and we blame ourselves. So a genetic diagnosis can really help to close that. But back in 2019, it was pretty abysmal when we actually hand on heart said, how many is this dramatically changed management for the better?

It was just two of our patients. Okay. And that was something that meant I’ve gotta, I’ve gotta be part of something bigger here. And it was amazing to have that opportunity to be part of the Deer program because that meant not only all the precision medicine that we’ve been hearing about, but also this opportunity to really deeply think about wraparound models of care.

And this was a little patient of mine and we published two papers. It was a new genetic condition, but I still couldn’t answer those questions for the mum. And that’s what’s really been driving me is how can we best answer these questions? So some background in what we were doing in Sydney, we talked to many families.

We heard that families wanted to be connected. We heard that families needed proactive psychological support and they needed clear information about their child and their child’s genetic condition. And so we worked across many projects, which I’ll just highlight and you can read the slides in more detail.

But essentially showing that actually focusing on those priorities of families did make a huge difference. And then more recently, I’ve been lucky to be part of a national program, which is looking at rare disease education support and training. And we hear the same questions and the same challenges. So we talked about how big our collective.

Genetic epilepsy family is our collective rare disease. Family is even bigger. That’s 2 million Australians, 300 million people globally. And that’s the sort of numbers to really push government as well. And when you hear about the challenges that are facing families living around the world with rare disease, we have so far to go but so much that we can learn from each other.

And you’ll recognize all of these things. A long distance to a journey to get a diagnosis and then having to retell your story. Every new doctor it’s traumatizing. You actually have to go back and say that. And then how do you equitably get to these new therapies? We are hearing about every single parent wants that now for their child yesterday, so how do we really start to think about a cancer model of care where clinical trials, it’s beautiful to hear that are embedded right from the start.

So in New South Wales we’ve been thinking about that and we have a website have to acknowledge very little funding at the moment, but we’re working on it to bring together and to share across different conditions. And part of that is growing this community. So it starts with data collection. We have a gene start registry and for anyone at Sitting Children’s Hospital Network that doesn’t know about that, please reach out to me.

’cause we want to try and get all of our families here. It’s a very quick registry, but then it enables us to link into programs like the Deer Program really quickly as they come up. We also have an undiagnosed disease program and we send many of our undiagnosed families, as many as I can to be honest, onto the Deer Project, which is great.

So it’s this connecting so we know who our patients are and we can get them into these programs, whatever their conditions. And I really wanted to highlight here, particularly Alex Johnson, she’s the lead neurologist for the Dear Study at Sydney Children’s Hospital. And we are really looking at how we can get clinics that are more multidisciplinary.

And now we’ve got ethics approved for the Dear project, get our families in as quickly as possible proactive navigation. So you’ve met Briley and I’m gonna give you a few little details about why the Briley model is absolutely needed. And I think Leah, you could speak to this. Absolutely. Because it’s really about bringing all these elements together and being an advocate for you and for your child, and also helping to get your child into the therapist that they need.

And Lauren, who can’t be here today, she’s in hospital as a postdoc with our team and she’s been working on understanding what could some funding for specialist d nurse consultants actually how that could improve the patient journey. And not only would that improve outcomes for children, it would make us clinicians work better to the scope of our practice, be less burnt out, and it would also have huge savings and efficiency for the healthcare system.

So really we need lots and lots of these people around the world. I dunno who the purple guy is. But all around the world. And that’s what we really want. And in terms of supporting the whole family, one of the conversations I’ve been trying to be brave about is de-stigmatizing the mental health impacts of rare conditions.

De I think it needs to be brought up in every single conversation. And a lot of what we did through the rarest project was really just trying to do that de-stigmatize that have a fact sheet so clinicians would feel more comfortable bringing that up and proactively offering support and linkages because we need to be braver.

And it was lovely to see the care gateway people here. I think that’s a fabulous service. You don’t need a referral from your GP and you get very practical support. But any stress about rare disease is on steroids. As we’ve heard again today for you, we know that this is the most the group of rare conditions that has the most impacts on you as parents and on siblings and the whole family.

Just as a reminder, one of our projects way back with Suzanne Nevin was these positive psychology resources for parents. So they’re still there on the Penn New South Wales. It’s so exciting to hear about mice. But positive psychology works for all of us, including your clinicians. Peer support.

A huge shout out to Chris from what she’s been doing in this field in particular. And we’ve got a paper that Chris has led under review, which was looking at peer support and many of you may have participated in that retreat. And it really spoke to the importance of peers as you know here, because the other person sitting next to you gets it.

You don’t have to start from the beginning. You’ve got this shared understanding. And I also wanted to give a shout out to Maddie who’s sitting over there. Did you wanna raise your hand? So she’s a new neuropsych student who’s just starting with us. There’s a little bit of background about Maddie so you can get to know her, but we’re so excited she’s started and she’s gonna be working on how we can better support the siblings.

Okay. And so part of that is gonna be piloting an online resource. But the other thing is really working with families to maybe make a beautiful book for siblings that could be shared with with younger siblings. Information is power. One of the projects we worked on, gene Compass was people gave us our questions, the questions they had about their child and we try to get a clear answer back.

And I think this is actually something that AI is gonna be really helpful with as well. But we did it the very old fashioned manual way. It made a difference to families. And these are the commonest questions, which I don’t think will surprise any of you, but most clinicians do not know how to answer these questions.

So part of what we need to do is really to be helping clinicians to be directing you quickly to support groups to the natural history study and. Informing themselves about how to better support you and get to expert care. And part of how we’re doing that, particularly through a nurse navigator program we have, is these rare passports which give a family after a diagnosis, a snapshot of their condition, QR codes, who their key clinicians are so that they can get that information out and not have to retell their story quite as much.

And absolutely linking here it again to the genetics of epilepsy study, we also link people to the rare portal, which is our new like orphan net. But for Australia it’s got information on a small, at the moment de number of de genes. So reach out, they’re keen to have more pages. So if your combination of letter soup isn’t there they can work on getting a page for you.

And there’s also a helpline that goes along that. So all of us are trying really hard to get new ways of thinking about research. I absolutely agree. It has to be not an added on but embedded into our clinical care. And one of those things is how do we explain that? How do we explain with the newborn baby what an a SO or a gene therapy is?

Part of the work we’ve been doing is making videos to explain these new advanced therapies, but also clinical trials. And there was a question earlier, which is what about when my clinician doesn’t listen to me or doesn’t even recognize the epilepsy could be genetics? So part of the work we’ve been doing on a national level, and we are really excited that this will be something we’ll be hopefully bringing more and more around Dees, is educating clinicians that it’s okay that you’ve not heard of that particular alphabet soup, but reach out to people who do connect you with the centers of expertise so that you don’t have to be alone and be the constant person that’s advocating for your child.

So anyway, I’ll skip over these. These are resources we did. We launched the first as of recommendations where disease in Parliament, you can see these slides. I’m just very conscious. We’re running behind time. We’ve tried to embed quotes and we’ve just got a new paper out that talks about how we co-design those.

Also, we have thought about how we can make rare disease care more equitable for our First Nations people. And this is an amazing project called Life Languages, which is about translating concept medical terms into First Nations languages. These are e-learning modules. So these are clinicians, but the point is we’re getting it out, including to gps.

The last bit we trying,

I’m just, I’m also really over time. You take your time. Oh, okay. Alright I’ll, no, okay I’ll slow down. It’s all on our Rare Diseases New South Wales website. Okay. And these are resources for clinicians. And we maybe a little breaking news. We have just been expended by the Department of Health and Aged Care the first time.

I’ve never actually asked for money and was given it. And so we’re extending our with work with clinicians, which is really exciting. Okay. Slow down, Emma. Okay. This is another project, and I think this is probably nearly about the last thing I’d want to talk to you about today and hopefully get you a bit back on time.

So it was actually beautiful and I had just seen that little thing of will’s nighttime reminder about his queen music, which was gorgeous. And one of the things I really followed, I was thinking more and more I was really working in an area of genetics and I was doing genetic testing on children and adults with intellectual disability, but not really with them.

And in fact, we it was one of these conferences and I met someone from a completely different field, which was inclusive education. And she challenged me what do the people with intellectual disability that you’re doing genetic testing, what do they think? And we realized I had no idea.

So we worked with her and our inclusive research team to actually go and ask people. And what we heard was shocking. And I don’t think that will be shocking to you that often children who cannot express themselves verbally are neglected in the healthcare system. And we have had, the Royal Commission recently who has said how widespread this is.

So I’m just gonna show you this video information. Just perhaps we could start with she, her school, she was talking, that sort of thing, said how she at school how

time she has been impact since her childhood and she didn’t even go to school, normal children. So this was some videos we did based on people’s experiences and what they told us as adults with intellectual disability about what their experiences in healthcare work. So we, as I mentioned, are an inclusive research team, which means we have co-researchers with intellectual disability as part of our team.

So Julie Lovett’s Raffaello is one of our three co-leaders. She had the Order of Australia last year. She’s an incredible woman with intellectual disability who’s a self-advocate, which means she speaks up for her own rights and for the rights of other people. So we, together actually and I have to acknowledge New South Wales Health here, they not only funded us to do this study, but then didn’t bury it, actually paid for open access for the publication.

And then. Funded us to do this work together to make some resources for the first time for people with intellectual disability about genetics. And you can find this all on the Center for Genetics Education. So there’s easy read booklets, and there’s these videos. And this is one of the educational tools I had used for my medical students is you saw that first video, and then we have the same scenario played out when a clinician has maybe read our toolkit.

And really the most important thing that you feel, this is your comment, you tell me I and some health problems. That’s a great question. And look, I can’t promise you that we find an answer. I can promise you that we’ll try. Also in genetics it often takes a long time to find access. So we, we definitely won’t have notes for you today, but I’m happy to explain to you the process, what’s involved and okay.

Yep. So same setup, but just a different way of doing things. And lots of kind of practical resources and tips for people. And we’ve just had the evaluation of that toolkit published in genetics and medicine. It’s been visited by over 10,000 people from 70 countries. So it showed that it’s a gap.

And we are really pleased that we’ve got now ongoing studies. We’re doing a shared decision aid about genetic testing and more resources through a nationally funded project, including social stories for children, podcasts about communication. So some and communication board about genetics that people could use for people who have limited verbal communication.

And we are really grateful in rare diseases, new South Wales, that we’re building this community alongside our New South Wales organizations that support families. And we recently held on Rare Disease Day, our first events smaller than GETA but we, that’s our very first event. And we were featured on Sunrise, which was really lovely.

This is my last slide. I think none of us underestimate the impacts of these developmental and epileptic and encephalopathies. We are making amazing inroads into diagnosis and absolutely, hats off to Ingrid and the team here that said epilepsy was genetic, that wasn’t even believed. And now, the number of genes and the different genetic mechanisms also, that first presentation where we saw those videos.

And we all know what that means, don’t we? That you know that brings that hope. So we’ve got early diagnosis, we’ve got the hope of precision therapies that are working and what about it? The bit in the middle. Yeah. So how do we wrap around the care and the support? And we do that in an equitable way.

We believe the answer is the government funding centers of expertise with embedded nurse consultants that are specialist in DEE and those centers of expertise are like the center here with Ingrid, where people know about Dees and clinical trials and research is embedded. And we may say that’s pie in the sky, but that’s what happened with childhood cancer.

And look at the outcomes that were shifted with that. And the government has just funded, I think, 200 nurse consultants for oncology with the McGrath Foundation. So it can be done. We just need to make our voices heard. Thank you very much for your time.