Navigating the decision-making challenges of a spinal muscular atrophy (SMA) diagnosis and its treatment is complex for both physicians and caregivers, requiring a balance between the urgency of early intervention and the diverse perspectives of patients and families. This is especially true when treatment options involve complex trade-offs between quality of life and long-term outcomes. Effective communication and collaboration are essential to help families make informed choices that align with their goals for the patient’s care.

The first ethical area that comes up in my thinking is in the diagnosis of SMA and having that happen prenatally vs during newborn screening vs during the childhood, teenage, or young adult years. The ethical issues that arise are so different during each of those different situations. For example, a prenatal discussion on SMA has the advantage of people being in a relatively calm period of the experience of having a child. However, there is sometimes still an urgency if the diagnosis is made during different milestones of a pregnancy, during which one might or might not make different choices.

In contrast, a diagnosis based on newborn screening results can be really challenging, as these families have usually what seems like a healthy newborn and are now flooded with information about this disease and the treatment options. We need to give families adequate time to be informed, but we do not have a lot of time. Especially in cases involving the most severe form of SMA, we really have to move to start treatment as soon as possible, which can be a stressor to manage for both the care team and the family.

And then, the later diagnosis of SMA in a child, teenager, or young adult has its own complications because some people do not want to be treated. They may say something like, “This is who I am. I will live with my disease, and I’m not interested in treatment.” As more real-world data have come through, however, many of these individuals have changed their minds about accessing treatment, but approximately 30% to 40% of patients with SMA are still not on a disease-modifying therapy.

It is important to understand why these people are making that decision or whether it is even a choice (eg, in the case of a patient not having access to a care center). Not every insurance plan agrees on whether everyone should be treated with these high-resource medications. The following is a huge ethics question and issue: What is our best approach to helping the most people with SMA have the best possible life? Is the best approach to always give them access to any treatment that is desired? Or is there a rational boundary of which people we would not choose to treat relative to what we can do with our resources as a society?

The last ethics-related challenge that I want to discuss is when a provider team and a family do not agree, which is rare but does happen. It gets very complicated sometimes. However, at the end of the day, you have to try to realign around the core ethics principles that we swear by as physicians while also remembering that all of us are trying to help this person with SMA whom we are caring for have the best possible life, whether we are the care team or the family. It can take time to understand why something is so important to a parent or to a person living with SMA, but it can get unlocked once we understand more about them or once they better understand what we as physicians are trying to say based on our experience, the clinical data, and our discussions with colleagues. We are all a community, together trying to do our best for patients with SMA. Focusing on that will usually get us to the right place eventually.