Anup Patel, MD: Eric, I want you to kick us off with what the impact of having these syndromes is on not just the patient but also the caregiver. I think that we, as pediatric epileptologists, obviously interact with patients and their families and see that. But talk a little bit about the impact that these diagnoses can have.
Jesus Eric Pina-Garza, MD: Well, first, in epilepsy of any type, we have a problem. So the best position that you can be in is by identifying the problem very well. As physicians we look at the positive and the negative of every situation. One of my colleagues, in this era of internet and communications where it is easy to get access, felt that giving someone the diagnosis of LGS [Lennox-Gastaut syndrome] was a hard hit to the family because you can read about it. I said this is no surprise, they’ve been living with it. So what you’re doing is only giving an identity that they’ve been looking for. So even though LGS or Dravet, Dravet is more specific, but LGS is not, this is still an identity, otherwise you had just a difficult-to-control epilepsy.
And what it is, having the correct diagnosis, is that it puts you under the umbrella of a family like the LGS Foundation. It gives you some support from them. It gives you educational materials. It allows you to apply for the proper medication that can be covered. So it has a lot of benefits. Not having it and just saying this is a refractory epilepsy takes a lot away from you. One of the interesting things that we did working on Lennox-Gastaut is trying to identify the patients with LGS when we didn’t have an ICD-10 [International Classification of Diseases, Tenth Revision] in the Medicare database. And through different algorithms, we were able to identify something that is a very specific diagnostic of LGS. Surprisingly, about 50% of the adults were being treated with medications like carbamazepine, phenytoin, things that can exacerbate the syndrome and not give you good coverage. So again, the iatrogenic effect that we can have, if we don’t have the proper diagnosis.
Anup Patel, MD: Elaine, you spend a lot of time with many families that have Dravet syndrome. Talk a little bit about that specifically and what impact and devastation that can occur with these families.
Elaine C. Wirrell, MD: It’s very devastating. When kids are born, they’re healthy, they’re normal, there’s nothing wrong and parents have all the hopes and aspirations as they do for other children. And then they have their first prolonged seizure and for even the first year or 2, their development often looks pretty good, despite the fact that they’re having challenging seizures. Then by the preschool years, people recognize that the kids are not making the developmental gains that they had hoped for. So you’re dealing not only with the seizures, but you’re dealing with children who have often, down the road, very significant cognitive disabilities. You’re dealing with behavior issues.
And then looking at the seizures, yes, they’re intractable, but often they occur without any sort of prediction. You know that the child is predisposed to having recurrent status epilepticus; you have no idea when that’s going to happen. So that really has a very significant impact. If it happens when you’re sleeping and you miss it, what’s going to happen? So many of these families don’t sleep very well. They’re constantly looking after their kids. Studies have shown that if you have a child with Dravet syndrome, the ability of both parents to work actually is not possible. One of the parents is staying at home, so that’s a financial hit for the family. And then I think further, just the impact to the other siblings in the family as well, that’s very challenging. The siblings have, as far as what they can do is very limited because they have a sibling who has medically intractable epilepsy, yet they grow up to be the most caring kids in the world, as you know.
Anup Patel, MD: That’s great. Ian, how do you prepare families? Elaine highlighted that these are kids who are normal, and then suddenly their world is rocked. How do you prepare them for the future and what to expect?
Ian Miller, MD: That’s a really outstanding question and difficult to answer. In my experience, there is the cycle of grief that goes along with the diagnosis and kind of the Kübler-Ross model of denial, and anger, and bargaining, certainly plays itself out. I think different families go through that at different speeds and in different orders perhaps, but that process is there. It’s tremendously stressful to marriages and to relationships. Relationships are hard in general, and when you have a child who has a chronic illness with significant medical needs, it’s compounded dramatically. And I don’t know of a way to shepherd people through that cycle of grief any more than we have really effective ways to help people through the cycle of grief with the loss of a loved one or something else. But I do think it helps a little bit to recognize that and explicitly observe that with them.
I think having them recognize that that’s where they are is a helpful therapeutic conversation to have. And I think Elaine’s comments were spot on. The things that parents grapple with are different as the life cycle of the epilepsy unfolds, in terms of having initial seizures, is one set of emotional and scary experiences. Having the diagnosis made is a second set. The constant struggle in the trenches where you’re just beating your head against the wall with medicines and medicines and medicines. It kind of feels like your doctor is doing the same thing by increasing the medicine dose. Why am I going to increase the medicine dose when that medicine doesn’t work? Super complicated. And then finally, dealing with the realization as the parents get older that they are getting older, and what’s going to happen to my child once I’m gone. It’s a long process and it unfolds at different rates for different people, and I think just us being aware of the fact that it’s happening is probably the most important part.
Anup Patel, MD: Please.
Elizabeth A. Thiele MD, PhD: I also think that this is really where the role of the patient advocacy groups, like the Dravet Syndrome Foundation and LSG Foundation, I think those organizations serve as an incredible support for families just entering this. And I find even though every child’s path is different and you can’t always predict what the child’s path will be, these communities really embrace children who have had the diagnoses in families as well as the new diagnoses. So I always encourage my families to try to seek out the support of these organizations. The other thing I’ve been very happy to see the past several years is we are beginning to think about all these things. I think now the community and we are all stepping back and saying, well look, it’s not just the seizures, it’s the impact on the child, on the family, on the siblings. And we need to address all of that and be more holistic in our approach to these patients, which I also think is a really positive thing.
Anup Patel, MD: I agree completely. And I think that for those of us who see these children and obviously have a high percentage of having these children be treatment-resistant, I feel like sometimes that’s the best thing I can do for them, is to connect them to other resources or to really help them handle the diagnoses and the path that has to occur. So I think that’s really great. And I think we should probably do a better job with educating our colleagues on making sure those resources are available to them as well.