Episode 13: Exploring Families' Needs
Families can find it challenging dealing with the healthcare system when children with genetic epilepsy and developmental epileptic encephalopathies are unwell. To help identify needs and plan towards improving services, Genetic Epilepsy Team Australia convened a roundtable including families, clinicians and researchers. In this episode Kris Pierce discusses the outcomes of the roundtable and plans for the future.
Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A.
Ms Kris Pierce RN MHSc MWellness, is a rare disease advocate and mother to Will who has SCN2A. Kris has held a range of board, project management, advocate and consumer representative roles and has been instrumental in working with local, state and federal governments to secure funding for multi-million dollar projects. Kris is highly skilled in building teams to work together collaboratively and is a co-founder of Genetic Epilepsy Team Australia (GETA) and SCN2A Australia, and a RARE Global Advocacy Leadership Council member.
Welcome to SCN2A Insights bringing you the latest research and clinical updates on SCN2A and genetic epilepsy from around the world.
Dr. David Cunnington: So welcome to this episode of SCN2A Insights. I’m David Cunnington.
Ms. Kris Pierce: And I’m Kris Pierce.
Dr. David Cunnington: And in this episode, we’re going to talk about a recent genetic epilepsy roundtable that was held here in Australia amongst a range of different stakeholders, really to try and look at what some of the issues are in the provision of services around genetic epilepsy and developmental and epileptic encephalopathies. Who better to talk to than Kris the convener of the roundtable?
So apart from being a co-host of this podcast, Kris was really the perfect person to bring together a range of different stakeholders in health care because Kris has got a background as a nurse, so as a provider of health care and background in running public health programmes in a number of different healthcare settings, both in the community and hospital settings, experience both as a consumer of health care and as parents of a child with special needs in genetic epilepsy, we consume a lot of health care. And Kris has been a patient representative over a number of years on high-level quality committees in providing input to a range of different health services, so the perfect person.
Kris, what was actually the need? What sort of made you want to pull together this genetic epilepsy roundtable?
Ms. Kris Pierce: The genetic epilepsy roundtable came together from the group GETA of which were part of. SCN2A Australia is one of the founding members of GETA along with two other families that represent KCNQ2 and SYNGAP1. And we’ve run an annual conference for the last three years. And over that time, both at the conference and talking with families and of course through our own personal experiences we found that there are a lot of gaps in the system and there are a lot of frustrations and there are a lot of hurdles to overcome. And we often, as parents are finding that we’re fighting the system constantly.
So we brought this together to try and uncover what the issues were from a whole range of people from those accessing services so family members, patient advocates, we had clinicians there, neurologists, genetic counsellors, we had people from the Epilepsy Foundation so a wide range of stakeholders came together to try and uncover what the current issues are. And then this was just really to uncover what they are and then the next steps will be taken– we’re currently writing up a white paper as a result of the roundtable.
Dr. David Cunnington: So why did I set up this meeting at all Kris?
Ms. Kris Pierce: So the purpose of the roundtable was to get a realistic picture of the current experiences for people and families living with genetic epilepsy. And some of the key objectives were to find a platform to share lived experiences and the daily impact of genetic epilepsy, to gather information to help inform the health and disability sectors about what families and patients affected by genetic epilepsies and related disorders experience, and also identify some priority areas and then form the next step.
Dr. David Cunnington: So when it all came together on the day, how did it all run?
Ms. Kris Pierce: Prior to the day, Dr. Katherine Howell and Dr. Stephanie Best and I got together and worked out how we would run the day. Obviously, we’re very grateful to both those professionals for giving their time towards this. They both saw that there was a need and threw themselves behind this project. And we went through some subjects and themes that we wanted to go over and we broke these up into four different sessions within the afternoon. And we broke the participants into two groups and they were talking about the same things sometimes and then at other times, we’re talking about different subjects.
Dr. David Cunnington: In structuring your meeting going in, what were the main things that you divided the sessions up into?
Ms. Kris Pierce: So the main things were diagnosis of epilepsy and its underlying cause. So what were the challenges around diagnosis, how were they managed, did that go well, did you have access, did you need counselling? That was the first theme. The second theme was the management of epilepsy, so the treatment of epilepsy and then also the logistics for the treatment of epilepsy.
The third one was genetic epilepsy as we know them are not just epilepsy. So what did that broader scope of co-morbidities look like and how were they being managed within the health system? So we looked at development and behaviour and also general paediatric and other medical care. The fourth theme was the whole child, the whole family. So looking at the whole child, what were the issues now and what were the issues in the future, so we looked at transition, education, NDIS, which is an insurance scheme here. And then the second group looked at the whole family and what were the issues of the family. So like support for siblings, grandparents, mental health support.
Dr. David Cunnington: So, obviously, all these things were discussed and there were lots of different views from the range of stakeholders. Now that you’re looking into pulling things together for the white paper, what were the main outcomes from the meeting?
Ms. Kris Pierce: The major theme, like the overriding thing that really came out across all of those four themes that we talked about, was that this is a complex presentation and the families are not getting that complex care coordination. And so they’re looking for coordination of care. They’re looking for contact points when things go wrong. They’re looking for people within the hospital system to help them coordinate the care. These families often say a handful, if not more, specialists, neurologists, gastroenterologists, respiratory, you name it, these families are seeing a whole gamut of medical professionals both allied health professionals and medical. And so, the overriding thing that came up with both the medical professionals in the roundtable and also the parents was the coordination of care.
Dr. David Cunnington: So that’s often a theme that comes up in a range of different health care settings, not just in Australia, lots of other health care systems. So then apart from that coordination and trying to focus on that, what were some of the other things that came out of the meeting?
Ms. Kris Pierce: Some of the other key themes was communication and that’s across the board range of issues. Participants are looking for greater communication between families and clinicians and between– also between clinicians and clinicians. So medical professionals not working in silos there is that coordination not only between the family and medical professions but also between clinicians and the ability to provide family support through that communication.
So, one of the other communication points that were made by particularly family members was a better way to document seizures, so that can be shared across health professionals, education institutes and family members. They wanted to see more education of parents about drugs and their effectiveness and also their side effects. The group also want to see an increase in partnerships between parents and clinicians which will only have better outcomes for the patient. So really looking for ways to share communication through better documentation, better communication, hoping for better outcomes. At the minute, parents feel like they’re working by themselves and always sort of finding the system to understand better.
Dr. David Cunnington: I can really relate to that documentation when you and I went with Will when we were running through the natural history study trying to piece together which drugs he was on, at what time and what seizures and we have some idea of trying to recall some of those things but just incredibly complex. So having that documented with all those things lined up and accessible for everybody would have been really helpful.
Ms. Kris Pierce: And there are some great apps that are coming out that I heard about at Global Genes last year on how to document some of these things. And it’s a really important thing for parents to be able to document what’s happening along the way but ain’t not be too onerous because obviously, they’ve got lots of important things to be doing looking after their medically unstable child. But there are things that are coming that will be useful to family members but also the patient groups as they try and gather that data.
Dr. David Cunnington: Yeah, it’s an interesting point two about some of the antiepileptic drugs and understanding that so we got to take that on board, that’s another podcast topic. We’ll get someone on to talk about that because this is a good forum to take some of that out and develop a resource around that.
Ms. Kris Pierce: Yeah. So, one of the other points that came across from all the different genes, so as we said we had family members there representing different genes and of course, they all present differently. There are some similarities but they are all different. But what family members are looking for with some protocols and plans for not only when they come into emergency but also for schools, for GPs, so that when they go somewhere they’re not having to be the doctor. At the minute, because of how genetic epilepsies are rare, we’re often taking our child into hospital and explaining what they’ve got, what it is, what needs to be done. And so that was one of the things that came out was that if a child regularly visits a hospital there is a protocol in place like this drug doesn’t work for SCN2A children. This is the protocol to best suit that child and that gene.
And they were also looking for protocols in terms of epilepsy management, behaviour management where there are specific instructions that can just ease the process when you’re in a crisis situation, that just takes the load off the parents because that was one of, I guess one of the other key themes that came through is that our parents are feeling pretty broken. And one of the physicians in the group asked “What can we do to ease that burden?” And the response was “Fix the system.” And by that, they mean to fix the things that make it so hard. We shouldn’t have to fight for quality care. We shouldn’t have to fight for that coordination of care. It should be in place. There are other chronic illnesses that just by history get that coordination of care and that’s certainly something that we’re working on as a result of this roundtable.
Dr. David Cunnington: It’s really good to try and look at what are the issues because that’s really the starting point for making things better and moving forward. In our previous episode, we interview Dr. Scott Perry from Cook Children’s. I really admire from afar the genetic epilepsy service he set up and a passion and the time he has put together and particularly that transition to adulthood and the adult genetic epilepsy clinics. When we can learn from others and also look at what’s not working in our own systems, it’s a great opportunity to move forward.
Ms. Kris Pierce: Yeah and transition was one of the major issues coming up from families that really there is none and we’ve been through that process with. We recently actually went through a specific transition programme at the Children’s, where we really came out the other end with no referrals to adult physicians, no referral to adult neurologists, we’re basically navigating that system ourselves and we’re lucky that we know the system and that we can navigate it but it shouldn’t be that hard. And because genetic epilepsies are now being diagnosed more, this process is going to have to get better as their children’s age through the system.
Dr. David Cunnington: It’s great to work finding those through key themes and sort of things to move forward with. So what does that look like? Where are you going to take this using this information?
Ms. Kris Pierce: Where this is going is evolving because we’re really running this project off Katherine, Stephanie and I’s desire to want to make a difference. At the minute, we’re writing up a report from the roundtable. We are going to present that to the staff at the Royal Children’s in a couple of weeks particularly touching on that coordination of care.
Then we’re also looking at doing a survey because obviously this roundtable was just you know a handful of representatives of all the stakeholders, we want to broaden that and get as much feedback from all the genes, a cross-section of young patients, older patients and really try and get a much bigger look at what’s going on and see if it supports what we found in the roundtable.
And then we’re going to start lobbying. We’ll start lobbying the government whether it is a state, federal to get those supports in place. At the minute, we don’t have much. We’ll take it one step at a time but there is certainly a lot of scopes to improve things.
Dr. David Cunnington: Congratulations Kris on pulling that such a great meeting of people to really help move things forward. And I think between yourself, Katherine, Stephanie, it was just so well organised and this could just great information to take the next steps into helping to advise and improve the health care system to provide care for people with genetic epilepsy and developmental and epileptic encephalopathies.
So if you’re interested in more information on these topics subscribe to the podcast or let others know in the field that the podcast is available so that they can also keep up-to-date. And that can be via any of the podcast app, so via Apple podcasts, and follow us at SCN2A Australia via social media feeds on Facebook or Twitter @SCN2AAustralia. Thanks a lot.
Ms. Kris Pierce: Thank you.
This podcast is not intended as a substitute for your own independent health professional’s advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider within your country or place of residency with any questions you may have regarding your medical condition.