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The importance of newborn screening for SMA

Rory and Carolyn met in seminary, fell in love, and got married. They decided to hold off on starting their own family while they settled into their first jobs in North Dakota. After a few years, they moved to Minnesota, where Rory accepted a job as a minister, and Carolyn enrolled in a hospital chaplain residency program. At the time, they did not know how important the decision to move would be for their future family. When they moved, neither North Dakota nor Minnesota had SMA on their newborn screening panel. It wasn’t until March 2018 that Minnesota adopted and implemented newborn screening for SMA, and then several months later, in 2018, Rory and Carolyn’s only son Edan was born.

This topic has 8 replies, 4 voices, and was last updated 1 year, 7 months ago by Kevin Schaefer.

  • Author
    • #17476
      Kevin Schaefer

      I’m currently working on a column about my experiences with pulmonary function tests (PFTs). I used to really hate doing these as a kid, but I’m writing about how I got used to them over time and what that process has been like.

      For those of you who are unfamiliar with PFTs, they’re basically a series of breathing tests designed to track a person’s respiratory levels. The tests are a combination of deep breaths in and out, fast and hard breaths, and blowing out air into a tube. It’s exhausting to do them, but they do help.

      What has your experience been with PFTs? What questions do you have about them for you or your child?

    • #17480
      Ryan Berhar

      I’m sure I did more as a kid, but the only one I remember doing was about a year ago. I did it to make sure I could handle the surgery I ended up not doing haha.

      • #17500
        Kevin Schaefer

        It’s interesting. I’ve learned in the past few years that a lot of SMA people don’t see a pulmonologist on a regular basis. I’ve been seeing mine since I was in middle school. Granted, I’m 30 minutes away from one of the best hospitals in the country, so I know I’m fortunate. A lot of pulmonologists aren’t as knowledgeable about SMA, which is unfortunate. But yeah, I detail my experiences with PFTs in my next column.

    • #17493
      DeAnn R

      I didn’t even know what a PFT was until I started to pursue Spinraza.  It really would have been interesting to see how my lung function has changed throughout the years.  Maybe it would be depressing though.  I’ve only done 2 so far.  My third may be coming up with my next injection in March.

      • #17501
        Kevin Schaefer

        When I was younger I was frustrated by them, because my levels were really stagnant. But as you’ll see in my next column, I did improve over time. It’s something I hated doing when I was a kid, but I’m glad I stuck with.

    • #17502
      Kelly Miller

      I know I sound like a broken record, but when I was a kid, it was way back in the late 60s. The only pulmonary function test they had was at the MDA clinic, and I absolutely hated it. They’re very archaic way of testing a person’s breathing abilities was that little contraption with the balls in it that you are supposed to make float to the top. I would blow & blow and never get the balls to move even a smidge! It was demoralizing as well as irritating (an understatement). When I turned 18, I told my parents I was no longer going to the clinic because I didn’t feel like it did anything for me, and I didn’t have a pulmonologist anymore until a year ago.

      Although I’ve had many pneumonias, I just haven’t bothered getting a pulmonologist because I figured they wouldn’t know any more about SMA than any of my other doctors, so I wasn’t in the mood to teach someone else about my issues. I figured I would just stick with the GP. After getting in a group for people with MD on Facebook last spring, I learned that a PFT was essential for someone with muscle weakness from a neuromuscular disease, especially while I was well, to get a baseline. I researched for a pulmonologist that would listen to me and who might know a little bit about SMA. I chose a young woman who had been practicing about 5 years, thinking her age and proximity to med school might give her newer information about therapies and devices. I chose right.

      When I went for my 1st appt, I planned on letting her do all the talking so I could see what kind of knowledge she had. That was difficult because I’m really used to taking the lead in all of my medical care. In her exam and wrap-up, she told me that I needed to get a PFT, and that I might need a BiPAP if my carbon dioxide levels were too high. I told her another pulmonologist had tried to get me on a CPAP instead (an idiot obviously), and she said CPAP’s aren’t the proper treatment for someone with SMA. Joy! I had someone who knew what the heck they were doing!

      I did get a PFT, and my levels were not good. My carbon dioxide was around 38, and my lung function was very, very low (9 sticks out in my head, but I seem to have blocked it from memory.) She put me on a BiPAP for nighttime sleeping, gave me a suction machine, and a cough assist (those last 2 were my request), but I wasn’t able to handle the BiPAP. I think I just don’t have it in my head that I need it yet because I don’t have any morning headaches, sleepiness, or feelings of exhaustion. My psyche would not allow me to get the whole breathing rhythm thing down, so I gave the machine back and told the respiratory therapist that maybe I would try again in the future. She didn’t look very happy, just shook her head, and packed up the machine.

      I know my Dr. is going to want an explanation for why I’m not doing it, but as with so many other things, she’ll just be one more in a list from whom I’ve ignored instructions. I’m not saying I’ll never do it or that it’s a stupid idea. I’m saying I’ll keep the possibility in my back pocket for future consideration when my breathing gets really bad. Unfortunately, I do realize that this method of dealing with the problem is probably going to cause me to bypass the BiPAP and go straight to the vent when the time comes.

      • #17505
        Kevin Schaefer

        I can imagine that pulmonary resources back then paled in comparison to what they are today. Even today, like you said it’s hard to find a pulmonologist who knows enough about SMA. I’m fortunate in that regard, but I know it’s tough depending on where you live. I’m glad that the one you have now knows what she’s doing. It makes a world of difference.

        Regarding the BiPAP, I get that it’s just one more thing. I will say though, they’ve evolved a lot since when I was a kid. The machines I used when I was younger were loud and annoying, and the face masks were a pain to deal with. Today, the nose masks are much more comfortable, and the machines themselves are significantly quieter.

    • #17507
      Kelly Miller

      Yeah, I think I tried every mask known to man last spring. Several people recommended the nasal one, but I just couldn’t deal with any of them. I felt like I was struggling to get the rhythm of breathing with it. I also felt weaker after taking it off and switching to breathing without it. It made me more afraid that I would lose the muscles I have and no longer be able to breathe off of it.

      • #17508
        Kevin Schaefer

        It is a struggle for sure. You have to do what’s best for you. Still, I’d be happy to answer any questions about my experiences with a BiPAP.

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