Experts remind families of the importance of follow-up visits with the multidisciplinary team during COVID-19.
Garey H. Noritz, MD: To me, that’s almost the story of SMA [spinal muscular atrophy], too. The SMA that I learned when I was a resident is not the SMA we take care of today because of the advent of early diagnosis and these treatments.
Diana Castro, MD: Yes. It’s completely different. And just to make the point of how important it is to get diagnosis early: weeks count in spinal muscular atrophy. Days and weeks count. We cannot be waiting for months. Two weeks ago, I had the experience of meeting a patient in the hospital who was admitted with constipation: a little baby. The mother said, “I’m a carrier. I know I’m a carrier because I was tested.” The husband was also a carrier. They didn’t want to go through amniocentesis because they were afraid of losing the baby. When they took the baby to the pediatrician, the pediatrician said, “I think we can wait until the baby starts having symptoms.” And that’s a big “no.” That’s not an option. We cannot wait until they start having symptoms because all the studies we have done with different medications show that if you treat the patient in the presymptomatic time of the condition, that’s where their best results are going to happen. That’s going to be the best prognosis for a patient with spinal muscular atrophy type 1.
Garey H. Noritz, MD: Yes. The treatments are really amazing. They’re not a cure, but they make such a big difference. It’s a wonderful time to be taking care of kids with SMA.
Diana Castro, MD: Yes, and you said something key: it’s not a cure. We have to remind the families that getting the medication does not mean that you don’t have to come to your appointments, that you don’t have to come to your standard of care appointments. We used to see patients every four months because that was pretty much dictated by one of the medications. Now with the COVID-19 [coronavirus disease 2019] situation, we’re obviously spacing out the visits a little more. But that doesn’t mean you should not have your follow-up with pulmonology, gastroenterology, or orthopedic surgery for scoliosis and so on. It’s very important to remind these families that this is not a cure.
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