Living with SMA and Resources


Patients describe how their lives have changed since their SMA diagnosis, and a neurologist provides advice for community physicians.

Crystal Proud, MD: Briggs and Hannah, we talked a little about how you were diagnosed through DNA testing and it was able to confirm your diagnosis of spinal muscular atrophy [SMA]. Miss Hannah, I’d like to ask you to give us an update on how you’re doing, and then we can get a perspective from your parents as well. How are you doing now? How have you done over time?

Hannah: I’ve been doing good. Since I’ve been getting the Spinraza [nusinersen] treatment, I’ve been doing a lot better. I feel stronger with the Spinraza treatment.

Crystal Proud, MD: What do you notice that’s different about your muscles?

Hannah: I can open stuff that I couldn’t open before.

Crystal Proud, MD: You’ve been doing fantastic. I’m so pleased with how you’ve done over time. We’ve known each other for about 6 years, maybe a little longer, and it’s been fantastic to see you grow and strengthen. It’s been incredible. Mom and Dad, what are your thoughts? How has she been doing?

Charlene: She’s been doing great. She’s been able to do so much more since she started getting Spinraza. It’s like night and day to me.

Crystal Proud, MD: Hannah, talk to me a little about how you get around. What do you use for mobility?

Hannah: My power wheelchair.

Crystal Proud, MD: What do you like to do in your power wheelchair? What’s your activity of choice?

Hannah: Power soccer.

Crystal Proud, MD: That’s what I was thinking of. You’re quite active in your power soccer team, which is exciting. Briggs, can you share with us what you like to do?

Briggs: I like playing games on my [Nintendo] Switch. I like playing soccer. I couldn’t play soccer like I used to at my school. I play basketball sometimes. We have big icebergs at our school and we climb on those. I can climb up those better. Today, I slipped and fell in a puddle.

Crystal Proud, MD: It sounds like you were having some fun. Mom and Dad, what are your perspectives on how Briggs has been doing since diagnosis?

Jeremiah: It’s huge.

Lindsay: It’s night and day, like Charlene said.

Jeremiah: Exactly. Before this, he’d get home from school and be so tired. He’d want to be on the couch all the time. After this, he has so much energy. I love seeing that. He’s a kid again. He stays very active now.

Lindsay: He was falling a lot before. His legs would give out probably 5 to 15 times a week, which is what prompted all of this a year ago. And now I can’t remember the last time he fell because of his SMA.

Briggs: I fell last week.

Lindsay: I know you did, you tripped on something.

Briggs: I slipped on my pillow. It’s a long story. I was just bringing my pillow downstairs and [suddenly slipped on it].

Crystal Proud, MD: It happens. Briggs, we should clarify. How old are you?

Briggs: Nine.

Crystal Proud, MD: And Hannah, how old are you?

Hannah: Seventeen.

Craig Zaidman, MD: Briggs was diagnosed about a year ago.

Crystal Proud, MD: Hannah, do you know how old you were when you were diagnosed?

Charlene: Sixteen months old.

Crystal Proud, MD: Dr Zaidman, if there are physicians and families who are looking to find more information about spinal muscular atrophy, what resources can they utilize?

Craig Zaidman, MD: I refer everyone to the Cure SMA organization, which is a patient advocacy organization. The information there is excellent. The Muscular Dystrophy Association also has information about spinal muscular atrophy, but Cure SMA is isolated to SMA, whereas the Muscular Dystrophy Association covers a number of different things. Both of those organizations are highly reputable and their information is curated and reliable.

I discourage families from making medical care decisions based on social media. The perspectives that a family gets on social media can be irrelevant for their child. It may be highly relevant for the person who posted it, but it may be irrelevant for the child who we’re talking about, who I’m caring for. I don’t have any problem with looking at social media or using it. But you have to be careful about the perspective of 1 person vs another. Along with Cure SMA and the Muscular Dystrophy Association, the American Academy of Neurology has information on spinal muscular atrophy. Those would be the main ones that I look for.

Crystal Proud, MD: I agree. I point my patients in the same direction. Both of those organizations have been incredibly supportive and have also supported research efforts in evaluating interventions and therapeutics for our families impacted by the diagnosis of spinal muscular atrophy. Dr Zaidman, what advice do you have for community neurologists? Maybe they’re not nerve and muscle specialists, but they’re the first stop for many patients in their journey in figuring out the reason for their weakness. What recommendations would you have for them?

Craig Zaidman, MD: A patient who has motor weakness who has normal cognitive development has to have a genetic test for spinal muscular atrophy. If they’re sending blood work, they should have the creatine kinase checked as well. But the genetic testing for spinal muscular atrophy is free. It can be ordered online. A kit can be requested and gets mailed to the family’s house. I have a very low threshold for sending it. I get a lot more negative SMA test results than positive, and that’s the way it should be. I send it like you do. If I think of it, I send it. That’s my advice. Characterize the pattern of disability. Is it weakness plus cognitive or is it weakness with normal thinking? If it’s weakness with normal thinking, then send the genetic testing for spinal muscular atrophy and call my office.

Transcript edited for clarity.

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