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How different generations living with SMA can teach one another

Meet Regina and Al. Their friendship and respect for one another all started at a fundraiser before a Phillies baseball game in 2019. “I watched Regina give a beautiful speech at the event about her recently diagnosed son, Shane,” recalled Al. “I thought to myself, ‘My friends at Cure SMA need to meet this amazing mom and get her involved.’”

This topic has 0 replies, 1 voice, and was last updated 1 year, 1 month ago by DeAnn R.

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    • #19569
      DeAnn R

      Recently I did a vlog regarding some changes I see coming to SMA in lieu of the recently approved treatments. In case you missed it that’s what I’ll be discussing here. With the recent FDA approval of Zolgensma, and Spinraza that was approved in late December of 2016, it’s really going to change SMA as we know it. With that however, come a lot of concerns and uncertainties.
      First of all I want to say that what I’m talking about is purely speculation based on my experiences and opinions. I would love to hear your thoughts, so please comment below. Zolgensma is like something out of a science fiction novel. Even though it’s been on my radar for a while the excitement in the air was still electric. Even though the scope of this treatment is more limited it raises some of the same questions if not more.
      It took me over 9 months to cut through the red tape to get Spinraza. I know some are still fighting for it. All I can say is be patient and keep fighting. If there’s one thing I know is that those of us with SMA have a lot of fight in us. With Zolgensma there’s a 2 year old age limit. One of the concerns for some parents is that their child will “age out” before they’re able to get it approved. My hope is that after Spinraza the process will have become more efficient to limit that from happening. If it does happen I know there’ll be huge disappointment, but if it’s any consolation at least there’s Spinraza as an alternative. This is one of many reasons why newborn screening is imperative, to get the ball rolling early.
      Another question that I’ve had is how these treatments are going to affect the SMA typing system. So far type has been determined by age at diagnosis and milestones reached. With newborn screening being more prevalent and the treatments I’m not sure how that’s going to work. From my understanding SMN2 copies isn’t exactly accurate either, so it’ll be interesting. I think it’ll be important to distinguish if someone has had a treatment, but still type will be somewhat deceiving because a lot of ability depends on at what point in progression the treatment was given. Some type of sliding scale might be an alternative. Like classifying if someone has mild SMA, moderate SMA or even advanced SMA.
      Another shift I see is that we may not need to be as proactive as we once were. An example that I can think of is with an electric wheelchair. There was a post by a parent on social media on whether they should seek a power assist manual chair or an electric chair for their child who had received treatment. My mind immediately said power chair. But that was my thinking for progressive SMA. Now I might see more benefits for the power assist manual chair depending on the child’s abilities. Being proactive is still important but I don’t think parents will have to rush into things quite as quickly. Time will tell, but maybe a feeding tube won’t be necessary. Maybe a Bi-Pap isn’t needed. Of course good communication with your doctors is imperative, but it’s another aspect I see changing as treatment become more common.
      As I’ve only addressed a couple questions and concerns, what are some others? Let’s keep the conversion going.

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