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Pediatric Nurse Practitioner
Department of Neurology/Neuromuscular Program
The Children's Hospital of Philadelphia
Vanessa Battista, MS, RN, CPNP, has disclosed that she has received consulting fees from AveXis and Biogen.
One of the most difficult duties as a spinal muscular atrophy (SMA) specialist is informing a child’s family about the SMA diagnosis. Although we quickly move to discussing available treatments—which is crucial because outcomes are much better with earlier treatment—we must be mindful that we are still diagnosing a lifelong chronic illness that requires a lot of support for both child and family. Below, I share my perspective on how best to support, counsel, and educate families during this difficult time.
At diagnosis, most of the family’s questions are directed at the provider and involve the disease course and treatment options. Our team also has a genetic counselor present when giving the diagnosis so that they can answer other questions (eg, how did SMA occur? Who else is at risk? What does this mean for future pregnancies?). In states with newborn screening for SMA, the genetic counselor is automatically part of the diagnostic process. In states without newborn screening, families often undergo a difficult “diagnostic odyssey”—a period of time where they may be seeing a neurologist and/or physical therapist for a few months until they are referred to a specialist who diagnoses SMA.
Regardless of when the diagnosis is made, it is essential for the genetic counselor to be there for support and to help families understand that SMA in children is most commonly caused by recessive mutations leading to homozygous deletion of SMN1—meaning there is a 25% chance genetically with each pregnancy that the child will have SMA. Families often find that confusing when they already have healthy children. The genetic counselor can also educate the family on whether other family members are at risk of having a child with SMA.
Connecting Families to Resources
At diagnosis, families should be connected to multiple resources for information, equipment, and support. The healthcare team caring for families often serves as the primary support and can refer families to other resources. Foremost are 3 organizations that have played a large part in research and treatment development: Cure SMA, the SMA Foundation, and the Muscular Dystrophy Association. These organizations also provide vetted information online and in the form of booklets published for families on different aspects of the disease, from the genetics to fundamentals of care (ie, breathing support, nutrition, decision-making). Some organizations also offer equipment.
Many families use the Internet for information and to connect with advocacy groups and other families through Facebook, chat groups, and other forms of social media. We usually do not recommend specific groups to families, but when requested, we and some advocacy groups can connect families with each other.
Although these groups can provide crucial support and friendship, we caution families to please check with us on any medical advice they receive from these groups to ensure that it is the best for their child’s circumstances. For example, a specific piece of equipment may be appropriate for one individual and not for another, and we encourage families to always check with their healthcare team before taking medical advice from other families.
Counseling on Treatment Options, Outcomes, and Adverse Events
In general, families want to know which is the best treatment option with the fewest adverse events that will provide the best outcomes. First, we assure families that there is no correct choice. The choices are individualized for their child and family circumstances, and there is no compelling evidence completely favoring one treatment over another at this point. Each option has risks and benefits, and we take them through the options and provide information about what each entails.
In brief, the gene therapy onasemnogene abeparvovec-xioi is administered just once; nusinersen involves going to the hospital several times in a short period for intrathecal administration initially and then every few months for life. And the newest option, risdiplam, requires taking daily oral medication. For those considering one-time gene therapy, families often want to know if the child can receive additional therapies.
Our understanding of these therapies is still evolving, so our role here is to help the family decide what is best for them using available knowledge, evidence, and their individual preferences.
Regarding counseling for adverse events, we tell families that it is impossible, at this point, to know that there will be absolutely no adverse events or that their child will experience all of the known adverse events and exactly in this way. Some children experience adverse events to varying degrees whereas others experience none at all. We consider the best approach to be outlining all of the potential adverse events and ensuring that families thoroughly understand the known risks and sequelae, along with the uncertainty that comes with each treatment option. We also counsel them upfront on how we manage these adverse events if they do occur.
Counseling on Treatment Adherence
Counseling on adherence to treatment depends on which treatment option the family chooses. Adherence is particularly important with risdiplam, the daily medication. We have just begun to start individuals on risdiplam, and we stress to families that they will need to adhere to taking this medication every day, and there can be potential adverse events or the risk of the medication not working if they skip a certain number of days—meaning that the family cannot go on vacation and forget the medication at home. We do not know all of the adverse events or long-term effects of this treatment at this time, but we want to ensure that individuals get the maximal possible benefit.
Although adherence to one-time gene therapy is not an issue, adherence to follow-up care is important because, as we tell families, this therapy is not a cure and children still need all the supportive care that comes with SMA. Families who are coming in repeatedly for treatment may have an easier time adhering to supportive care, although sometimes those are separate visits. We emphasize that treatment outcomes are maximized when paired with supportive care.
Considerations During COVID‑19 Pandemic
As a community caring for people with SMA, we have extensively discussed how to ensure that families stay safe and get the support they need during the COVID-19 pandemic. It has been amazing to me that most treatment options have largely been available without interruption throughout the pandemic. We have had minimal treatment interruptions when families chose not to come for treatment because they did not want to risk coming to the hospital or when institutions had to delay treatment, for a variety of COVID-19–related reasons, but overall, most therapies continued without interruption.
Key concerns involve what happens if the individual with SMA, other family member, and/or primary caregiver becomes sick with COVID‑19. Fortunately, SMA does not intrinsically increase a child’s risk of COVID-19, although gene therapy requires the child to be on steroids and, thus, immunocompromised for a certain period. That being said, people with SMA have a more difficult disease course with respiratory infections. We stress that families be vigilant against COVID-19 by practicing good handwashing, wearing masks, and practicing appropriate social distancing.
How do you assist children and families with selecting the best treatment option for their circumstances? Please share your experiences and thoughts in the comments box.