Discussing the Diagnosis of SMA With the Family


Discussing the diagnosis of spinal muscular atrophy (SMA) with the family and lining up appointments with the multidisciplinary team to help care for the patient.

Garey H. Noritz, MD: If you then diagnose SMA [spinal muscular atrophy], how do you handle that with the family? How do you disclose the diagnosis? How and where do you send them for help next?

Diana Castro, MD: Let me start saying this. If I see the patient through telehealth and become concerned that this is the diagnosis, I bring the patient in the next day to get the testing done. That same day, we’re also going to ask other team members to see the patient. We’re going to try to save time because if we’re thinking that it’s going to be SMA and we’re sending testing, we’re likely going to need functional testing because insurance is going to require this kind of motor function testing for us to be able to get therapies approved. I talk to the families the same day even without the final diagnosis, and I start preparing them with what I’m thinking and the possibility of their child having this diagnosis. I get these other people to help me see the child, along with nutritionists, physical therapists, occupational therapists, and so on. We’re trying to set up things ahead of time even before diagnosis.

If you’re seeing a patient who has a degree of hypotonia that has you concerned, even if it’s not SMA, it’s a patient who is likely going to have to be seen by pulmonology as well. We try to get them to see the pulmonologist and sometimes the gastroenterologist. There are many other things we can do while we get the diagnosis confirmed.

Garey H. Noritz, MD: Then once we do have the diagnosis, where do you send the families next?

Diana Castro, MD: Let’s say we see the patient, and we had a very clear conversation about what I’m thinking it is. I can schedule a telehealth visit to talk about the diagnosis because I think at that point, this is something that can be discussed if we already had a conversation before. What I will recommend to them is to make sure they get all the specialties. I will have already the functional testing done. I will explain the process about the therapies. We have to talk about the different options for therapy. Right now we have three options, and that’s one of the reasons that getting the diagnosis early is so important and an emergency. We have oral, intrathecal and intravenous medication that can be offered to the patient. I spend a lot of time talking about these options for treatment with the family. That’s one of the first and more important things we do. I also ask them to look at different online resources to try to get them involved in the community. I’m very fortunate with the families that I have here in Dallas. They are a very strong community. Once somebody gets diagnosed, they bring them into their Facebook page and they start getting them somewhat ready, along with providing help for these new families.

Garey H. Noritz, MD: It’s like dropping a bomb on a family who has a baby. They may suspect something is not right, and then you’ll confirm that something is not right. The families I’ve been down that road with have benefited from getting involved with organizations like Cure SMA to become part of that community. I once heard someone say something along the lines of, “Welcome to a club that nobody wants to join. But now that you’re here, we’re going to be with this together.”

Diana Castro, MD: Exactly. I have found that the families have been extremely helpful. Sometimes we cannot get equipment for any specific reason, sometimes insurance doesn’t cover it, or whatever is the case. The families will help each other a lot, so I think that’s an important place. Obviously, Cure SMA is extremely important for them, too.

Garey H. Noritz, MD: Thank you for watching this NeurologyLive® Cure Connections® program. If you enjoyed the content, please subscribe to our e-newsletters to receive upcoming programs and other great content right in your inbox.

Transcript Edited for Clarity

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