Nancy L. Kuntz, MD: One of the issues that frequently comes up, and I think that we should all address this based on experience: what is the best way to individualize treatment for each child? In other words, just because a treatment exists or a surgery has been developed or tracheostomies can sometimes provide better access to suctioning and clear the airways, the question still exists: what’s right for each child and each family?
And so many teams, as they have expanded to be very multidisciplinary in caring for children with SMA, have included the concept and sometimes individual people who are experts in palliative care. And I don’t think that this is a separate decision myself. I think this is an approach and a concept that makes a lot of sense to apply to every child in your SMA [spinal muscular atrophy] clinic. The way that I would look at it is to be aware that with all the demands and needs that children have—and all the responsibilities and burdens that families and caregivers have—it’s very important to make sure that they have control over the long-term goals for treatment, for the well-being of the children and as the primary decision makers about the quality of life. And I think those things add together to allow appropriate decisions to be made between families and caregivers about the extent to which further intervention and treatments, especially when you’re getting to more aggressive treatments, can be made.
I think it’s much more complicated than just saying whether to intervene or not intervene, because there are so many different individual branch points where decisions have to be made for most of the patients I see in my clinics. Would you have any other better perspective? I’d like everybody to comment. If we can just go around, how do you integrate palliative concepts and care into your clinics?
Basil Darras, MD: Well, we have to, although I have to say that we’re consulting the palliative care team less frequently these days, probably because we have new treatments that we can provide to our patients. It used to be in a sense a part of the child’s care, particularly the type 1 patient, to sit down with the family and explain to them that in addition to supportive care and the different degrees of supportive care, there’s also the option of redirection of care. And that’s a very difficult discussion, and I have to say that at our center we had to rely on the so-called “pac” team, which sits down with the family and can discuss, it varies, the reason to do so. But I have to say that we don’t do that as strictly as we used to do it, say, 10 or 20 years ago.
Claudia A. Chiriboga, MD, MPH: In our center that decision or discussion usually happens in the ICU [intensive care unit] and the palliative team comes by and has the discussion. And I think if babies are symptomatic, the idea of intervening sustaining life is something that should be in parental control. I think there’s now an ethical dilemma, and I’m not sure what the right answer is, when we’re treating presymptomatically before the child has developed symptoms, what is our role of advocating treatment for the child? Because we are preventing disease, or minimizing disease, at a point in time that’s critical and is very time sensitive. And I don’t know the right answer to that. It’s a question that may come up as we have more newborn screening and identifying new cases as to what parents choose to perform.
So far, at least with the 3 that I’ve seen—I think there have been 5 in the state of New York total—they’ve all been very interested in treatment, so it’s been a hypothetical question that I have not had to answer.
Elizabeth Kichula, MD, PhD: I agree with Basil that I think we’ve been relying on our “pac” team, which is what we call our palliative care team, a lot less than we used to. Prior to nusinersen approval, we automatically got them involved after diagnosis in an early onset SMA patient. And we started doing that initially, or we continued doing that after nusinersen was approved, but really found that families weren’t as interested in it. So I think we’re really trying to take over that role a lot more rather than really having somebody else to come in separately to have these discussions.
I think it’s very hard because these treatments are so exciting, but at the same time, they’re only treatments and not cures. So I think being as proactive as possible, and having these conversations before there are emergencies, is important. So really long before that, you need to choose A or B, presenting what the options are. I also think it’s good to look at feeding tubes and BiPAP [biphasic positive airway pressure], not necessarily as failures but as additional supportive mechanisms. How can we help the baby reach their maximal potential? I think that’s really very frequently our goal, the family’s goal, and we’re directing our care toward that.
Nancy L. Kuntz, MD: I think that there is something you said for having a palliative nature of the care you provide. And then sometimes in a neuromuscular clinic, we’ll take care of the nutrition and the GI [gastrointestinal] aspects, but if it gets complicated, then bring the GI consultants in. It’s the same sort of thing with palliative care. If individual children have some intolerance of parts of the technology or things of that nature and you’re really having more of a difficult time balancing the potential adverse effects or quality-of-life issues and maybe one or both parents’ goals, as compared with the child and so on and so forth, I think then we for sure need people to help.