There were no treatment options available for the nearly 9,000 individuals in the United States living with a rare disease called spinal muscular atrophy (SMA) until December 2016. Individuals with SMA often experienced symptoms related to the deteriorating effects of the condition, which may include the gradual onset of muscle weakness, which can lead to the inability to stand or walk independently . To learn more about the topic, we conducted an interview with Dr. Margaret Frey, a neurologist specializing in SMA at Memorial Healthcare in Michigan, and her patient, Kailey McCallister, who is one of approximately 9,000 individuals in the U.S. living with SMA.
Question: What is SMA and who does it affect?
Answer (Dr.Frey): Spinal muscular atrophy is a genetic disease that causes gradually progressive muscle weakness. It affects patients of any age from early infancy through adulthood. In the most severe types of SMA the symptoms come on very early; in infancy prior to six months of age and those babies tends to not reach motor milestones and they unfortunately tend to die in early childhood. The milder forms are SMA type two and SMA type three and the type three SMA children attain the ability to walk and may maintain relatively normal motor skills well into adulthood. And I’m thrilled to be here on behalf of Biogen today to discuss spinal muscular atrophy and advancements and treatment for it.
Question: Kailey? Yeah. Is it possible to share your story with SMA?
Answer (Kailey): Yes. I was diagnosed with SMA type three two and a half years old. I noticed right away I was having difficulty walking and I remember falling a lot– Ashley, we lost her; She had SMA type one. And we had lost her and she’s really who motivated me to start treatment. And it’s important to have a great team of people to help direct you in what would be right for you. I so that’s pretty much, I’ve been trying to maintain the ability of what I have to keep my independence and with the Spinraza I’m doing, I’m able to do just that.
Question: Well, that’s good to hear. And, and so, Dr. Frey, does SMA affect men and women equally?
Answer (Dr.Frey): Yes it does. It is not a disease that is associated with gender at all. The inheritance of spinal muscular atrophy is completely independent of the inheritance of gender. And so it can affect really anyone at any age.
Question: And Kailey, you mentioned that you’re working to maintain your independence. What advice, what other advice can you give to those diagnosed with this disease?
Answer (Kailey): That it’s important to have a good team. And to talk to your physician about seeing what treatment options would be right for you.
Question: Doctor Frey what action should patients with SMA take?
Answer (Dr.Frey): As Kailey’s stated, the place to start really is a discussion with your primary care physician or your neurologist so they can direct you toward the most appropriate treatment for your specific situation; in order to initiate that.
Question: And how can SMA be treated?
Answer (Dr.Frey): There is a treatment for SMA that was FDA approved in December of 2016 and it has an indication for patients of all ages. The indication includes pediatrics and early infancy all the way through adults. It’s worth noting that Spinraza is administered to the patient through a procedure called a lumbar puncture or an intrathecal injection so that the medication can be directed directly injected into the patient’s spinal fluid where it needs to be in order to do its job. There are risks and benefits associated with Spinraza as there are with any drug. And we monitor for that by a urine testing and blood testing to look for any evidence of issues with the kidneys or bleeding. For full safety information. You can go to a website called spinraza.com.
Interviewer: Well, thank you so much for joining us today.
Dr. Frey: My pleasure. Thank you.
Fore more information, you can kindly visit SPINRAZA.com.
This interview has been sponsored by Biogen
 Lally C, Jones C, Farwell W, et al. Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States. Orphanet Journal of Rare Diseases. 2017;12:175.
 Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155-165.
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