Sebastian's Story: Initial SMA Symptoms and Assessment
EP: 1.Spinal Muscular Atrophy (SMA) Overview
EP: 2.Typical SMA Presentation Upon Diagnosis
EP: 3.Sebastian's Story: Initial SMA Symptoms and Assessment
EP: 4.Spinal Muscular Atrophy Diagnostic Workup
EP: 5.The Importance of Treating SMA Early
EP: 6.Treatment Barriers: Cost, Location, and Delivery
EP: 7.Treating Children and Spinal Tap Risks
EP: 8.Systemic Effect Prevention: Evaluation & Dose Modification
EP: 9.Life During Therapy: Good Days and Bad Days
EP: 10.Multidisciplinary Management and Educational Support
EP: 11.Family Planning for People With SMA
EP: 12.Centers of Excellence and Future Oral Medication
EP: 13.Psychological Effects of SMA on Children and Adults
EP: 14.The Impact of the ENDEAR Trial Regimen
EP: 15.Ongoing Clinical Trials & Managing Patient Expectations
EP: 16.Adopting Neuromuscular Therapies for SMA
Philippa Cheetham, MBChB, MRCS, MD, FRCS: Welcome to Cure Connections®, Sebastian.
Sebastian Mills: Thank you.
Philippa Cheetham, MBChB, MRCS, MD, FRCS: We’ve heard from Dr Proud about how patients present with spinal muscular atrophy. Can you tell us about your story, about how you were diagnosed?
Sebastian Mills: It all started when my parents took me to the beach and usually children, when the water comes up, you try to jump over top of the water. I wasn’t able to jump as high, so that was concerning to them. My mom did do a lot of research over the years. They believed, like Dr Proud said, it was something just developmentally, but after a while they noticed that it was getting worse, and then I started actually getting in trouble in school for not keeping up with the other kids during PE [physical education] time.
Philippa Cheetham, MBChB, MRCS, MD, FRCS: And how old were you when there was for such suggestion that something might not be quite right?
Sebastian Mills: I was 3 or 4 when my mom noticed it but when I started getting in trouble, I was about 9 years old, but also in elementary school, too, I was getting in a lot of trouble for not keeping up with the other kids.
Philippa Cheetham, MBChB, MRCS, MD, FRCS: So between the ages of 3 and 9?
Sebastian Mills: Yes.
Philippa Cheetham, MBChB, MRCS, MD, FRCS: If you think back to when you were at school, do you remember being slower in the playground compared with your friends? Do you remember that?
Sebastian Mills: I did notice that. Social relationships were a little weird because they didn’t understand how I could, at that age, have such big muscles but couldn’t do a lot of the things that came with the athletic aspect of school. So, it was a little uncomfortable but I have a good personality, so I was able to navigate around it. But it did kind of trouble me and it troubled my parents because they thought I was just kind of—at 1 point, they thought I was kidding around at school. But once they actually learned that, once they started noticing stuff themselves, they’re like no, there is something really wrong.
Philippa Cheetham, MBChB, MRCS, MD, FRCS: And did you ever get any comments from teachers at school about not moving as quickly as you should?
Sebastian Mills: Yeah, I actually got written up.
Philippa Cheetham, MBChB, MRCS, MD, FRCS: Oh, really?
Sebastian Mills: Yes, I got written up especially when we did like the mile runs or anything with a fitness test, just because I used to play around in class. I will admit to that but they just thought I was just playing around and when I tried to explain it to them no, I really cannot do this to that extent, they just thought I was making up excuses, so.
Philippa Cheetham, MBChB, MRCS, MD, FRCS: And we’ve heard a lot already about weakness of muscles and strength. Any other symptoms that come to mind in those early years, other than sort of weakness, not being able to keep up? You didn’t have any pain or anything? No, it was just weakness.
Sebastian Mills: Well, earlier in my early years, I did have pain that came with tight quad muscles so that was in the beginning, and they thought that this was all there was. Once we get those loose, you do a little physical therapy, you’ll be fine, and then once they realize that even with their physical therapy, there was still something wrong, and I was still moving slower than the rest of the kids, then they started to do more research.
Philippa Cheetham, MBChB, MRCS, MD, FRCS: So, at what age did your mom first seek medical help and end up in front of a pediatrician? Do you remember that?
Sebastian Mills: I do not remember that quite but I know that I was first diagnosed, I believe from my chart at 9.
Philippa Cheetham, MBChB, MRCS, MD, FRCS: And you take care of Sebastian?
Crystal Proud, MD: I have the pleasure, yes.
Philippa Cheetham, MBChB, MRCS, MD, FRCS: So, can you tell us a little bit about when you first met Sebastian and how obvious it was to you at that point, whether this was the diagnosis, or was it when tests were done that confirmed your suspicions?
Crystal Proud, MD: So we have a very unique way that we met, actually, it’s a fantastic story. So my partners who I’ve been practicing neurology for well over 20 years used to take care of Sebastian when he was a younger person. He had not been seen in the clinic for many years. And when there was the first FDA-approved treatment for spinal muscular atrophy, I had joined the practice. And given my specialty, knowing that this new treatment was available, we decided to do a chart search to see if I could identify that there were any patients who would be amenable to treatment.
His name came up and over time, we begin making phone calls and my nurse reached out to him and said, "We’d like you to come in to our neurology department for a follow-up visit. You haven’t been here in several years." And so I walked in and I have never met him before. And I said “Hi, my name is Dr Proud and I’m a neuromuscular specialist. Did you know that there was a treatment for your diagnosis?” And he said “No”. And I said, “Man, do you get on the internet?” And he said, “No, I tried to stay off.”
And I said, “Well, let’s talk.” And over the course of our visit, we reviewed the new therapy that was available to him. So, it was a unique meeting because he already carried the diagnosis and his molecular testing had been done to confirm that he did, in fact, have SMA [spinal muscular atrophy]. And then, his examination I did, and it followed the path of what I would expect for someone with his phenotype to have.
