DEACON, Dr Neil, Steering Group Member, DEE Roundtable Project DUFFY, Mrs Leah, Private capacity MILNE, Mrs Kathryn, Private capacity [by audio link] PIERCE, Ms Kristine (Kris), Founder and Director, SCN2A Australia [14:02] CHAIR: Welcome. Thank you very much for appearing before the committee today. I understand that information on parliamentary privilege and the protection and obligations of witnesses giving evidence to Senate committees has been provided to you. Do you have any comments to make on the capacity in which you appear? Mrs Duffy : I'm attending as part of the DEE Roundtable Steering Committee, which I am part of due to my membership of Genetic Epilepsy Team Australia. I also have lived experience as a mother of six-year-old girl with Dravet syndrome, which is a DEE. Dr Deacon : I'm a father of a child with DEE. Ms Pierce : I am a parent of a young adult with genetic epilepsy. CHAIR: Do we have Mrs Milne online? No, I don't think we do. If she joins us later, we can always come back. I'm going to ask each of your organisations now to make some short opening remarks and then we'll go to questions. Ms Pierce : We're pleased to be here and speak on behalf of DEEs—developmental and epileptic encephalopathies. I'm here for SCN2A Australia—SCN2A is the gene that my son has—but there are over 900 different genes that affect largely children but also adults. Epilepsy is not just seizures; you've heard that a lot across the inquiry. But for DEEs it's a very complex multimorbidity condition that affects pretty much every part of you. Most of these children and adults have intellectual disability, mental health challenges, behaviour, gut and movement disorders, and ASD. Some of our families with SCN2A don't have seizures, but the autism that presents through the gene change is quite challenging. I've come with a problem-solving approach. I'm going to read out five facts and then five fixes. To the five facts. It is seven to 14 years for a genetic diagnosis. The medicine that helps one child can make another one worse—for example, it can make seizures worse. Children lose a lot of time and years on the wrong drug; Leah can speak to that later. Thirteen to 15 per cent of children with SCN2A die; that's the same mortality as childhood cancer. For other DEEs, as has been mentioned, nobody has counted. There is $26 million a year for hospital beds—and that's the cheap part. Eighty-six per cent of our families, including myself, lost income or a career. In our survey, four to 10 people with a DEE are adults, and to our knowledge there is no specific adult DEE service in our country. Two-thirds of our families were denied NDIS support and/or have been given a plan that doesn't fit what the child needs. I've got some fixes, and every one is within the control of the Senate. The first one is funding genetic testing through Medicare at first presentation. There's enough research and evidence to support this. The problem is there's disagreement about who should pay. But the decision to make this accessible so families don't have to go years without treatment is one that can be reached. We could build a national DEE register to support finding families. We currently don't know how many there are and where they are because we don't have this register. We'd like to see DEEs as a distinct group. It is now recognised as a medical term for a specific group of conditions. We want to build a national action plan, but within that we're looking for distinct attention to DEEs, because pretty much everything in our care is quite different. We would like adult DEE care, adult DEE clinics in every state and some transition planning that starts early on. And the last one is to fix the NDIS. Genetic mutation does not resolve, and every year we are still asked to prove why our kids need 24-hour support. At the moment the parents are carrying that load. Everything I've asked for already exists somewhere in this country—just not for us. We're looking to you for a decision so we can start supporting our families. CHAIR: The DEE Roundtable Steering Committee. Dr Deacon : Thank you, Chair and members of the committee, for holding this inquiry and shedding much needed light on the issues we face in the DEE community. I'm appearing on behalf of the DEE Roundtable Steering Committee, of which I am a member. I'm also the father of a three-year-old with a developmental and epileptic encephalopathy. Our recent DEE roundtable, held on 1 May, brought together diverse stakeholders across the DEE landscape to identify priorities for people living with DEEs. In the last session of the inquiry, you heard from Associate Professor Katherine Howell, also a member of our steering committee, who provided an overview of what DEEs are. I just wish to reiterate that they are much more than epilepsy; they are severe lifelong genetic conditions, combining epilepsy with complex developmental disability and multisystem health needs. For example, my son sees six different specialists and has a therapy team of five allied health professionals. Evidence from 134 families like ours shows that the system is falling at their interfaces. Families describe delayed diagnosis, fragmented care, gaps in NDIS support, limited access to trials and treatments, and a cliff at transition-to-adult services. The financial and psychological impacts are also felt keenly on carers and siblings, and they are also profound. Too often families must co-ordinate systems that are no longer working as they should. There's no single fix to this. It requires a multifaceted series of solutions. Key pieces of the puzzle are, as you've already heard, national recognition of DEEs as distinct, lifelong conditions; better access to genomic testing and support through the diagnostic journey; health technology assessment that enables access to the world's best treatments; better understanding of DEEs within the NDIS, including recognition of fluctuating functional capacity and specialised pathways for people with DEEs; and multidisciplinary care, including through investment in DEE navigation and care coordination supports. The federal Australian Cancer Nursing and Navigation Program provides a promising model for this. There are also changes that will be required at the state and territory level to see that health, education and disability services are consistently meeting the needs of people with DEEs and their families. As such, there is urgent need for collaboration and coordination across sectors including public, not-for-profit and industry, government departments, and the states and territories to guide the changes required to improve the lives of people with DEEs and their families. Therefore, we need a national plan dedicated to the DEEs and a national DEE peak body to co-ordinate it, working alongside our partner organisations and allies across the DEE landscape, many of whom you have met through this inquiry. A distinct peak is needed because DEE sits at the intersection of rare disease, epilepsy, disability, complex health needs and advancing gene-specific science. It would complement not duplicate existing epilepsy organisations, connecting DEE communities, embedding lived experience and collaborating with the broader epilepsy sector and governments. The action plan and peak organisation would co-ordinate action across diagnosis, treatment and care; the NDIS; education, research; and access to therapies and adult services. Thank you. CHAIR: Before we go to questions, I note that we have Mrs Milne online. Welcome. I'm going to go to Senator Askew to kick us off for question. Senator ASKEW: Thank you very much for your time and for your submissions, which we've read with great interest. It's been interesting to see. The genetic side of things is something that really interests me. I've been involved in that from a cancer perspective and a few others over the course of my career. I would like to see if I could get a bit more understanding. Obviously, Ms Pierce, your first comment was that it should happen at early as possible or first diagnosis. Who should be doing it? Should that be at a specialist level? Who would actually be organising that, and what sort of cost is involved in it? Ms Pierce : Most of these presentations would come when children have an acute presentation. For seizures, they end up in casualty and ED ward. That's where it would happen most of the time. Senator ASKEW: Is that before diagnosis, or is that at the initial— Ms Pierce : That's at diagnosis. Generally there needs to be a presentation of some kind of symptoms, generally seizures, that would trigger that investigation. The challenge is that, when it's genetic, you need to test parents as well. That's a barrier in terms of being within a state hospital system. At the minute, there are a number of barriers between federal and state and who should pay. At the end of the day, it's these kids that are paying in delayed diagnosis. I understand that there has been some intent by Associate Professor Katherine Howell and others to take this to MSAC. It feels like that's not the right place, but there's also nowhere to go to next. So I think there needs to be a process where we work out where that happens. It won't be the only thing. There'll be other tests coming along with this explosion of genomics. A pathway for those kinds of things would be useful. Senator ASKEW: With the genetic testing when it's being done, I want to understand how it works and how involved it is. If the parents need to do it, that becomes, obviously, as you said, an additional cost, but who would actually manage that process? Who would be in control of making it happen? How would we make it happen, if we were to put a recommendation in? Mrs Duffy : For early diagnosis, it's really coming from the hospital presentation most of the time. Again, I think Katherine Howell will be able to speak more to this, through MCRI, particularly the Gene-STEPS program, which she will be covering a lot more later. In small hospitals—you might have a presentation at a regional hospital with a young baby. They might present with a seizure. They might have a tonic-clonic, which is obvious, but they might have other seizure types which are going unnoticed by people. So we're having long delays in that diagnosis process because regional hospitals don't know to order those genetic tests at the first signs of seizure, for example. Funding wise, I would say that, among most children's presentations, it should be coming from the hospital system. But, again, I would probably defer to Katherine Howell to cover that more. Senator ASKEW: I'll save some of those questions for later in the day. You also mentioned, Dr Deacon, the cliff, when they are moving into adulthood. Can you talk us through that a little bit and give us an understanding of what services they would lose access to when someone moves across into adulthood. Dr Deacon: If you don't mind, I'll pass this over to Kris because Kris has an adult child. I have a very young child, so I'm not— CHAIR: You're not there yet. Dr Deacon: there yet. CHAIR: Of course. Good point. Ms Pierce : Because the condition is complex, there's no specialty stepping forward to take ownership of these families. So it could be epilepsy, it could be general medicine or it could be other specialists depending on what their primary presentation or concern is. In the latter years, where seizures have been controlled for some time, our main providers are neurologists, psychiatrists and behavioural therapists. We're dealing with really complex behavioural challenges. We actually happened to move interstate around when Will, my son, transferred. When we were here in Victoria, I was given a letter. It went to the GP. I went to the GP. The GP said, 'You're going to have to tell me what I need to know, what to do and when. Then, when we tried to link into Queensland Health, the GP wrote a referral so we could get our son on the books, and they refused. Even with some back and forth, they just said, 'We're not the right home.' So nobody wanted to be a home. An example of where that comes unstuck was when my husband and I went away—one of the very few occasions. We were on a train in Spain, and the hospital was ringing us. It wasn't actually related to this, but they were asking: 'What is he normally like? How do we know where he is from baseline?' So that's why we want to have someone within the health system—because these children and adults live far more regularly in the health system and they need to be understood. Senator ASKEW: So you mentioned an adult DEE clinic. Are you envisaging that that would be a state based organisation? Is that how you would look at that? Ms Pierce : To some of your earlier points, at the minute the understanding of adult DEE—my son is 24, so he would be one of the oldest with a diagnosis. That's because genetic testing wasn't around. There will be a whole lot of adults that don't have that diagnosis, and the families don't understand that there's some genetic component of that, which I think is important because there are medications that can help. We know that at least. I would say that there needs to be some capacity building through a neurologist for adults, because, for the same reason, they also haven't trained with an understanding of that. I know some of our partners mentioned that DEEs and the multimorbidities are not really understood, and they just still see it as epilepsy. Senator ASKEW: There's definitely a workforce shortage in the whole area of everything that we've heard, to be honest. The NDIS was the other bit. On that cliff, you're obviously coming up against barriers within the NDIS. If a child were accepted into NDIS, that would then continue through and resolve that issue going into adulthood, would it? Or would it drop off at adulthood? Mrs Duffy : I think there's a drop-off earlier. My daughter's just turned six, so that triggers a reassessment for whether she's eligible for NDIS. I had this phone call, and I was trying to explain that she's got a genetic disorder; she's not going to be miraculously cured. He was like, 'We'll be in touch again next year to see if she's still eligible.' I'm thinking, 'Why am I going to have to go through that again in a year?' Her condition is not going to change. She's got a genetic disorder. She's got ongoing needs, and there's no pathway. I communicate with people from the NDIS, and they have never heard of a DEE. They don't understand. Her diagnosis is often just labelled as developmental delay. It's a lot more complex than that, and that's not recognised. There should be, I suppose, a clearer pathway. For epilepsy in general, there's very little understanding in the NDIS of the really highly specialised support that our kids require, and our adults as well. It's frustrating, as a parent, to have to advocate for that when it should be understood at that level of government, I feel. Ms Pierce : I feel it's frustrating. Just to add to what Leah said, there are pathways that have been created for other conditions like this. MND recently was talked about. A lot of the childhood dementias would fit under DEEs, and vice versa. The pathway is there. It's just trying to talk to the right people and get that put in place for our families. Mrs Duffy : There's also a difficulty sometimes in getting access early when we know that children have a genetic diagnosis. We know the path. I suppose there are a lot more natural history studies being done now. We can see that children—for example, my daughter has Dravet. It's pretty commonly known now that there'll be a decline after her first birthday. Our families shouldn't have to wait until those delays start being more evident before they gain intervention. We should be getting in early with that early intervention as quickly as we can. I think we're finding that's not happening. People are being told that they're not eligible still. You really feel like you're falling behind in that medical versus disability gap. I know you talked with the last presentation from Epilepsy Foundation about SUDEP. With Dravet syndrome, one in five children won't reach adulthood. SUDEP is the absolute biggest fear you have as a parent. One thing that can alleviate that for us is getting an oximeter, which should be funded through NDIS. A lot of families get knocked back for that. Having an oximeter and other monitoring equipment for your child overnight means that, hopefully, you're not going to wake up in the morning to find that your child has passed away. You can imagine, as a parent—can you ever sleep, having that fear? This piece of equipment that really should be pretty standard—it's not super expensive—should just be coming along with the diagnosis. That would alleviate a lot of that fear for parents. If you get a night's sleep, you can cope with a lot more, and you're coping with a lot. Senator ASKEW: That's right. An outcome of this inquiry is definitely trying to shine a light on all these situations, so hopefully there will be some outcome from that. I'll hand back to the chair because I'm conscious of time. Thank you. CHAIR: Senator Ananda-Rajah. Senator ANANDA-RAJAH: With regard to genetic testing, we did hear from Professor Howell the other day, but I'm keen to unpack this further. This proposal went to MSAC, and it was knocked back. Do you know how much the test cost? Mrs Duffy : I do. It's around $1,200. Senator ANANDA-RAJAH: But the cost is coming down? Mrs Duffy : It is coming down. I'm going to defer to Kathryn because I know she put a slide up about this very recently at a presentation I was at, so she would definitely be able to answer that today. Senator ANANDA-RAJAH: Maybe on notice. Mrs Duffy : Kathryn is coming in today. It would be good to get that on record. Senator ANANDA-RAJAH: Wonderful. Chair's telling me we'll be able to get to the bottom of this. Is this whole genome testing? Is that what it is? Do they sequence the whole genome? Mrs Duffy : Again, I'm going to defer to Kathryn, because I don't want to get something wrong. It's probably not the whole genome; it's usually targeted. But it's a panel, but then— Senator ANANDA-RAJAH: Have you had any contact with Genomics Australia, with the commissioner, about this? Ms Pierce : I actually sit on the Genomics Australia Advisory Council, which was appointed late last year. We're just getting off the ground. I know that researchers in this area are really trying to find a way to get around some of those barriers by doing research and cost analysis. But, if the barrier is the system, I think they have—to my understanding, the research has already proven that this is a benefit for the person or child, but also, if you can get in early and you get treatment started, if you have delays in treatment, then, largely, it can impact brain development and also impact families. We're talking about getting diagnosed and what implication it has on the families. If we can give a diagnosis and a bit of a plan, then— Senator ANANDA-RAJAH: You said earlier, but I just wanted to dive into this. We can ask Professor Howell about this as well. It's this link between the genetic marker and treatment. You can actually then tailor the treatment to the genetic anomaly that's been found. Dr Deacon : Absolutely. Just to illustrate the point, Leah and my child both have a mutation in the same gene, but the mutation in my child's gene is a gain-of-function mutation, and Leah's is a loss-of-function mutation, and we need exactly the opposite treatment strategies. If we didn't have that precision diagnosis, then we're just going through a trial and error, and it's likely that my son would have been given medication that would exacerbate the condition, not improve it. So that's the criticality of having that precise diagnosis. So when I hear $1,200 and 'Can we fund that or not?' I would give you $1,200 for that information in hindsight. It's trivial in the scheme of things. Senator ANANDA-RAJAH: Yes, it's a false economy, totally. Ms Pierce : Then you think of the hospital visits that that child would likely have with uncontrolled seizures, because we visit frequently. We've got the same example in SCN2A—same gain of function or loss of function. If you give sodium channel blockers to a loss-of-function child, it makes the seizures worse. So that genetic component— Senator ANANDA-RAJAH: So you do need to know the genetics. It can be quite consequential. Mrs Duffy : The right medication just makes all the difference. My child used to have 100 seizures a day. She was in hospital every three weeks for multiple days. We've got access, finally, through compassionate access, to a different medication that was available internationally but not in Australia. She's had about 12 seizures in the four years since then, total. It was through the Austin Hospital in Melbourne with Professor Ingrid Scheffer. They looked at the actual data of her hospital admission cost versus the cost that they paid for her medication, and they were paying so much more for her to attend hospital and attend all the services. Senator ANANDA-RAJAH: I think this is very problematic. I don't quite understand this logic here of not offering this. It sounds like we need to speak to MSAC, actually. I'm guessing MSAC take into account the cost effectiveness type data, but I don't actually know. It's all a little opaque to me. Do you have any sense of what sort of data they look at? Mrs Duffy : I don't personally. I really think that it would be great to get a health economist to give you some advice on this, because that's a really key factor in this. If you look at that early intervention and the correct intervention that people with epilepsy could be getting, you could be saving a lot of money for the Commonwealth. Ms Pierce : I'll just jump in and say that I think that information is available. Kathryn can correct me if that's not right. But I also sit on MSAC ESC, which is the evaluation subcommittee. The types of information are like the impact of the condition, the consumer impact and also the economic. The committee I'm on then passes it to MSAC for a decision. But it does take into account that balance between quality of life and things like that. But I think the barrier is state versus federal and also getting the parents tested. Some of these can have an inherited aspect, so you need to find out if it's inherited or it's a de novo that's just shown up. Senator ANANDA-RAJAH: With regard to respite care, we've heard that there's a huge burden on families. What kind of respite care is available for children and families with children who have these conditions? Mrs Duffy : Sometimes you can get funded for support work through NDIS. It's often pushed back as parental responsibility, which, to be honest, just feels like a slap in the face, because it makes you feel like you're not living up to your parental responsibility. We have a lot to deal with as parents of kids with epilepsy and complex needs. Otherwise, there's not really much, to be honest. Senator ANANDA-RAJAH: Some states have hospices. Some are being built. Mrs Duffy : There is the Very Special Kids hospice in Victoria. Ms Pierce : Yes, but traditionally these are not really seen as like a palliative care, which is something that does need to change. I've been doing some work—there's a CRE being run out of Brisbane—and trying to get that on the radar. We got my son into palliative care when he was little because he was sent home, to take him home, and that was because he probably wouldn't live till 12. So we got in on that basis, but there are a lot of other families that I know will go with a DEE diagnosis and get knocked back. Senator ANANDA-RAJAH: What would you see as best practice, then, if we were to consider some type of respite for families? What would that look like? Ms Pierce : For me, it needs to look like VSK, Very Special Kids. Without that nurse and that complementary care, like Leah said, parents would really struggle to sleep or feel like they could have a rest if that sort of medical support wasn't there. Mrs Duffy : And lot of kids with DEE have quite severe seizures. I know of one family whose child goes into cardiac arrest with every seizure, for example, so you can imagine the high level of care that they need. So you need really highly qualified carers. They're hard to find. And, when you have a child with DEE, parenting takes a village; your village is very small. You can't drop your kid off to a friend to care for them for half an hour while you run an errand. Your grandparents might be perfectly capable of caring for another six-year-old who doesn't have these complex needs. That's not happening. So I think support work from NDIS shouldn't be pushed back as often as it is, because we do need that little bit of respite every so often and we need people who are qualified to care for our kids. You can't hire a teenage babysitter from around the corner to look after your kid for you to have a break and go out for dinner. Senator ANANDA-RAJAH: Yes. Thank you. CHAIR: I'm very conscious of the fact that it's very hard to get involved when you're online. Mrs Milne, you've been sitting there, listening to the questions. I'd like to give you the opportunity to make any contribution that you would like to before we move on from this panel. Mrs Milne : I think the three representatives have covered everything really well. Probably the only thing that I would add is that I have more of a policy background than a lived-experience background, and each of the issues that have come up today during the discussions are well-known or established policy problems in the rare disease space and really systemic issues that, yes, are really felt in the DEE space but are also felt more broadly. I see it as an opportunity to improve lots of different pathways, including obviously for DEE families. I was going to give a specific example, but every one that has come up—for example, the respite and the transition to adult care—is written about and known about. So I think there's a really strong opportunity there to make improvements and recommendations that align with known needs. I also want to apologise while I've got the floor. I'm in South Australia, and I made a mistake with the time. I'm so sorry. Thank you for your understanding. CHAIR: That's totally fine. We have all been there, believe me. That ends our time for this panel. Thanks very much, both of you, for your submissions, for your advocacy and for taking the time to come before us today. It's been very much appreciated. The committee will report to the Senate on 10 September 2026. We've agreed that responses to questions on notice should be provided by close of business on Monday 17 August 2026..