Transition to adult care - Dr Danielle Andrade
Transitioning children with complex health needs such as those with SCN2A or other developmental epileptic encephalopathies is challenging.
Dr Danielle Andrade from University of Toronto has been instrumental in producing a number of transition guides and her ongoing research hopes to help further improve the process of transition. People aged 18 years or older can participate in this research by contacting Marlene Rong via firstname.lastname@example.org
Ms Kris Pierce RN MHealthSc MWell, 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.
Kris Pierce: Welcome to this episode of SCN2A Insights. I’m Chris Pierce.
David Cunnington: And I’m David Cunnington.
Kris Pierce: And in this episode, we speak to Dr. Danielle Andrade, a professor of medicine at the University of Toronto and Chair of the International League Against Epilepsy task force on the transition of patients with epilepsy from pediatric to adult care.
David Cunnington: And it’s a topic that’s close to our own experience because as parents of a 20-year-old with SCN2A, we’re certainly aware of the issues of transitioning from pediatric care to the adult system.
Kris Pierce: Yeah, certainly. It’s one that we’re still going through, even though it has commenced, I guess when he was 16, but really ongoing navigation of the adult system. Thank you for joining us today. Appreciate your time. So what is transition?
Dr. Danielle Andrade: Transition is a slow gradual process of preparing the patient and the family for the adult healthcare system, which is very different from just transferring a patient from pediatric to adult healthcare. During the transition, it should start early especially if you foresee that the patient will still be having seizures or other problems as they become adults. We and others have recommended starting the process at the age of 12 years, actually.
David Cunnington: So that’s a very long process. And across those many years, what are the key aspects that you want to build into that transition?
Dr. Danielle Andrade: So there are several things, I think the first one that we start when the patient is 12 years old, is just to introduce the concept of transition, the idea that eventually this patient will leave the pediatric system and move to the adult system. The adult system in many places is very different from the pediatric one, so it’s important to know about this. So patient and parents get prepared for this. It is important to explore what are the financial, the community and the legal support. So this is very important in patients, many patients with SCN2A have, in addition to epilepsy, intellectual disability or autism, or other motor problems. So, what are the resources that are going to be needed once this patient becomes an adult?
So in the pediatric system, usually you don’t have to worry about this, you have this support, but you need to make, sometimes depending on the country where you are, you need to make an application to see what kind of financial support you’re going to have. If you think that this person will need – they will need different housing, if they will need further help paying for things like physiotherapy, speech therapy, and what kind of school is available after the age of 18. I say 18, in most places, 18 is when they are no longer a child, they are considered adults. In some places, it might be a bit earlier, a bit later, but usually 18.
In terms of what the patient and the family can do, in addition to looking for these resources, it’s just getting used to the idea of having a person becoming a little more independent and I understand in cases of SCN2A, it’s not always we can reach that level of independence but perhaps little things like teaching the patient when to take the medication, maybe the patient can start noticing when he or she is running low on medication and might need a refill, just telling the parents “I’m running low”. And little things like that so that the patient gradually grows with the chronological age and will learn little skills that can help in the adult world.
Another important thing is being able to talk about side effects. So being able to express side effects, which the patient may not initially recognize as side effects from that medication but just being able to express the uncomfortable feeling of a headache or the difficulties with sleep and things like that. So, the patient needs to be prepared and we should try to help the patient to express his feelings and gradually manage his health treatment to the level that is appropriate for that patient.
Going forward, we want to make sure that the family is ready for the transition. And this is something we do a little later when the patient is 16 or 17 years old. We actually have a standard questionnaire where the parents will answer. For instance, I know who will be the neurologist following my son in the adult system. I know how to get prescriptions, I know when to go to the emergency room, I know what situations I should be calling the doctor, and I should be running to an emergency room immediately. So things that for parents of SCN2A patients are well-known but we want to make sure that they are also aware of the resources in the adult system.
Another part of transition is screening for risk factors of a poor transition. So for instance, if you have a patient that is on a ketogenic diet, and it’s working well. Is there a ketogenic diet clinic in the adult system? We know that ketogenic diets are very common in the pediatric system, but in adults, they are very rare. So what are you planning to do? Are you going to discontinue the diet before moving to the adult system? Are you going to go to a different city where there is a ketogenic diet program? So, all of this kind of planning needs to be done.
Will the insurance pay for the treatment once the child turns 18 or 21, depending on where you are? So, all that needs to be prepared, and you have to make sure these things are in place. Because the last thing you want is to have to run to the emergency room with a recently turned 18 child that is going to an adult hospital, and you don’t have any of that information, you don’t know if your insurance is going to pay for that, you don’t – they may even ask you for power of attorney in the adult system. So you need to, if that’s the common practice in your jurisdiction, you need to have that done well in advance of the 18th birthday.
David Cunnington: You make a really good point. So it’s not just about health care, it does cover education. For our son, school finished at 18 and all of a sudden his week was empty. And then what do you fill that with? And also as parents, almost the way we approach parenting is we’ve really done a lot for our son. And we also have to transition and allow that independence and back off. And that’s something you know, it’s just not been the way we’ve approached things up to this point. And that can be hard for us to stop ourselves from doing things for Will in the same way.
Dr. Danielle Andrade: Yes. One of the things I see very commonly is we ask questions, and the parents will provide all the information. And most of the time the information has to come from the parents. But it’s interesting to give the teenager a chance to speak and hear what they have to say as well. It’s just a tendency of parents coming from a pediatric place to speak and give all the information very quickly, very efficiently. But it’s important if the patient can communicate a little bit to let us know what they think as well.
Kris Pierce: So you’ve been doing a lot of research in this space, what does your research been telling you about transition?
Dr. Danielle Andrade: That, unfortunately, it’s not well done in most places. So most places, and what we have is just a transfer of care. So the patient sees the pediatric neurologist as usual until the age of 17-and-a-half and then they get a letter saying, or at the last visit, they’ll say “OK, from now on, you’re going to be seen by a doctor so and so in this other building. And we’ll transfer your information there.” So that is a relatively common problem for all types of epilepsies. It really falls short of the needs of patients with epilepsy. The needs can be different from a patient with SCN2A and a patient with juvenile myoclonic epilepsy but they all have important needs that should have been met over the years through a regular transition program.
I was the Chair of the International League Against Epilepsy. I’m now the co-chair with Dr. Rima Nabbout from Paris. And one of the things we are doing is asking families, patients, and families, what is their experience? Like I said, the large majority just had a plain and simple transfer. The ones that are still under age are still seen in the pediatric system, they were not aware of a transition program in their areas. So that might be – I think it’s one of the biggest problems we have right now.
Kris Pierce: Yes, like Dave said, you sort of released into this void, I know, with Will, we’ve actually put into a transition program, but it was literally you will now be managed by your, what’s called here, a general practitioner who has no epilepsy background. And our first appointment with them is “Well, you’ll need to tell us what we need to do.” So it’s definitely a big void.
Dr. Danielle Andrade: Yes. Our research is telling us as well, was that there are very few adult neurologists that focus on pediatric-onset genetic epilepsies. So that’s an area that also needs a lot of development.
David Cunnington: And I’m involved with our College of Physicians, so all that sort of specialist physician training. And across the board, there’s very poor training in people with an intellectual disability or other disabilities and managing them, let alone specific disorders like DEEs that are more complex and have medical aspects as well as the disability aspects.
Dr. Danielle Andrade: Yes, yes, it’s everywhere, unfortunately.
David Cunnington: And you developed a Transition Guide to guide adult physicians for Dravet Syndrome, and it’s a really great resource. But a bit, as you alluded to, different disorders have slightly different needs. Now, how do you manage that, you know there are 100 genetic DEEs that have been identified, you know, how do you avoid having to develop a guide for each specific one and try and have some sort of general guide? What’s the balance there?
Dr. Danielle Andrade: We did develop a more general guide, which we published in 2017. That was then for patients in the province of Ontario. But we had, we kind of divided the guidelines at that point into two different populations, patients with intellectual epilepsy plus intellectual disability, and patients with epilepsy without intellectual disability. So of course, the ones with intellectual disability, they’re the ones a very large group would in contest and ones with DEEs. And in those cases, we would talk about the things that I said before, like the need for power of attorney, and perhaps group homes, and all those things that explored the financial and social, and legal options available.
We also talked about the need to educate adult neurologists about pediatric onset epilepsies – especially with genetic background. The traditional training of the adult epileptologist is, that you’re training very severe forms of epilepsy that are usually not associated with a significant intellectual disability. So like, temporal lobe epilepsy, and frontal lobe epilepsy, these are chemical resistant. They need surgery. The patients have several co-morbidities, but the co-morbidities are different. You’re talking about anxiety, and depression, it’s not the intellectual disability that we see in DEEs. It’s not the autism that we see in DEEs.
The adult neurologist, again, everyone at this point, I mean, we are learning more about precision medicine. But precision medicine for adults with epilepsy, and normal intellect is not where precision medicine is, for patients with DEEs. In this sense, I think we are a bit more advanced in the DEEs, where you have a condition that you should give a sodium channel blocker, another one where you should not give a sodium channel blocker. So these kinds of little nuances, which are super important in the treatment of the patient, but they’re not very clear yet. They’re not very common in the world of epilepsy without intellectual disability.
David Cunnington: And so you’ve learned a lot and you’ve learned that you know, transition may really mean transfer. I suppose I like that language because that’s a bit how you describe our experience with transition. What do you hope to learn with some of the research projects that you’re doing now?
Dr. Danielle Andrade: Well, one of the things is we want to get the experience of the patients and families regarding transition to see where are the needs? I mean, the things we have done so far are based on the medical side. So we got all that information from physicians, social workers, psychiatrists, and psychologists. But we want to know, actually, what is the patient and the parent’s experience.
The other thing that we want to know, of course, is the natural history of genetic epilepsies. Because I think once we understand that better, we can have a better transition guide. What we did for Dravet Syndrome, for instance, we could do for other diseases. But we need a lot of research in the area of adult phenotype or the natural history of these diseases.
Just to give you an example, Dravet Syndrome, which is the one that we have more information about. For every seven papers in children, there’s only one in adults. So we really need more information about all the other epileptic encephalopathies in adults. So that’s part of our research as well. We are looking to find out that.
David Cunnington: Yeah, that’s a really good point, because a lot of families and we’ve been quite involved in promoting participation in natural history studies. And we hadn’t thought about that, that it’ll also inform the transition process, and what sort of care needs there are going to be as people transition into adult care.
Dr. Danielle Andrade: It’s very important for precision medicine, for sure. But when you leave the pediatric system, and you come to an adult neurologist, that will tell you, “I never heard about this disease, or I don’t know what happens with adults that have this disease. All I know is what happens to children.” You see the huge need to really understand the phenotype, understanding the natural history of this disease.
Kris Pierce: And so, what research projects are you currently running? And also, what can we get families and patients to help you with that?
Dr. Danielle Andrade: So, one of them is the natural history of SCN2A, SCN8A, CHD2, STXBP1, SYNGAP1, PCDH19. So, it’s very important to really understand what goes on with these patients, not only regarding series but many other aspects of their lives. It would be great if your families could participate in this study.
The other study that we are doing right now that we really need family input is exactly the transition. What was their experience for those that have children over the age of 18? Or what is their experience currently, for those that have children between 12 and 17 years? So, are they getting any transition process at all, or have they just heard at one point they will be transferred?
So, all of this research we are doing – we, of course, have Ethics Research Board approvals to contact families and get this information from the families. We do other research here as well. We look for genes, we do whole genome sequencing, and we do a lot of phenotyping, and genotyping characterization. We work with other investigators like the Epi25 project, and the EpiGen Consortium. So…
Kris Pierce: It’s fantastic that you’re doing that research. Is there access for families who don’t speak English as a first language to participate in those research projects?
Dr. Danielle Andrade: This research that we are doing with patients we have in several languages. So we don’t want the language of the patient to be a barrier. We have this research going on in Spanish, Italian, and French, some of them also in Chinese, Persian, and we are in Portuguese, and we are working on a few other languages.
Kris Pierce: So thank you very much for joining us today. We really appreciate your time and your insights. And we really look forward to seeing the insights that come from your research. And we’ll certainly make sure that we post the information about the research and share it amongst our community.
Dr. Danielle Andrade: Thank you very much. It was great, the opportunity to talk to you. And it was a very interesting conversation. Thank you.
David Cunnington: So that was really great listening to Dr. Andrade. What did you sort of take home from that, Kris?
Kris Pierce: One of the things that really struck me which we’ve known is really that there is a lack of detailed understanding of what a DEE is and what the complex support that that person or family needs once they exit the pediatric system. Many of these patients are very complex and need input from a number of different specialist areas. And that that is unknown and there’s a lot of education to be done in that space.
David Cunnington: And you certainly work in this space in Australia, and, you know, from what I at least observed, or from what you tell me, it seems like the challenges we face here are very similar to what Dr. Andrade was talking about.
Kris Pierce: Yeah, very, very similar. You know, obviously, our health systems are very different. But the challenges that are faced in other places of the world are certainly faced here as well. And what about you? What did you take away?
David Cunnington: Oh, I really thought it was just distilled into that comment of the word transfer versus transition. And if I had to sum up our own experience, it would fit with transfer as we talked about. And often that’s what people think of when they’re thinking of transition. But transition is far more than just a transfer of care. And it is a long process that’s got many facets to it. So I think that’s a really good way of summing up sort of where we’re at, and where we need to get to.
Kris Pierce: And there is a lot of work happening in this space, both internationally and in Australia. So fingers crossed for better outcomes moving forward.
David Cunnington: So if you’re interested in learning more about SCN2A or Developmental and Epileptic Encephalopathies, you can subscribe to the podcast and let others in the field know the podcast is available. It’s available by any of the podcast apps and the Apple podcast app.
Kris Pierce: And you can follow us at SCN2A Australia on Facebook or Twitter @SCN2AAustralia. And thank you for joining.
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