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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 6 replies, 4 voices, and was last updated 3 months ago by Crystal.

  • Author
    • #24050
      Alyssa Silva

      It’s a wild world we’re living in, so I just wanted to take a moment to ask: how are you holding up?

      I think it’s important to discuss how we’re feeling rather than pent up those emotions because that will only do more harm than good.

      Personally, I’m tired but hanging in there. I’ve established new rhythms and routines in my day which has helped me get a better handle of things. The weather has been a huge help, too. I think if there’s anything that this time has taught me it’s the importance of focusing on the present moment, and that moment only. If I allow my thoughts to trail off into the future, I become overwhelmed. So, I’ve been grounding myself in the here and now and taking life one day at a time.

      How are you?

    • #24062

      When you say you’re tired, do you mean physically or emotionally or spiritually? If you mean spiritually or emotionally, I totally feel you. I’ve had a very bad bout of being depressed and tired. I don’t know if any of you all ever deal with pain due to SMA cuz I never see any posts on it, but I’ve been hurting a lot lately. When I’m laying down, my skin where my tailbone is hurts like crazy and that’s cuz my tailbone is in the wrong place. It’s a few inches higher than it’s supposed to be and a bit to the side, due to my scoliosis. Also, my bones poke out in the wrong places which hurts when I try to do everyday things like bathing. And when I’m in my chair, my buttucks, side, and um private area hurt. My mom got me a new seat for my chair to see if that would help and it did help with everything except my side for about three days. Now my buttucks hurts again but at least my private area doesn’t hurt anymore. Still, when my buttucks hurts now, it’s so bad that I literally can’t deal with it. I end up asking to lay down early (I lay down at 1 o clock everyday to prop my feet up to try to regain the circulation in my feet) and then I end up spending most of my time in bed. And the only thing I can do in bed is listen to music and play with Alexa. It gets extremely boring very fast. My whole life, I really never cared that I wasn’t like other people even when I was at school. Even when I had to give up going to school cuz of SMA and therefore Stop seeing my friends who apparently weren’t really my friends but oh well. I missed them but I was still fine. For the most part I mean. I was depressed but that was cuz my older brother was abusive and I couldn’t do anything about it cuz he said that if I told anyone, he’d well I don’t know if it’s okay to talk about this on here but let’s just say he threatened to do something bad to my little brother. Anyway, I didn’t really care that I was different. But now I do. More and more lately, I’ve found myself crying and wishing I could just be normal. People always say normal is overrated but I don’t care. It’s better than hurting all the time. Plus, I wish I could get up at night when my moms suddenly get up for a late night snack of cereal and my bro decides he wants to have some cereal too so he gets up and goes in the kitchen too. But it’s not worth it to have them get me up so I can be with them even if I could still eat. Also I really miss cereal. Anyway, yes, I’ve been extremely depressed and just tired. Tired if trying to act okay. Tired of the pain. Tired of being bored. Just tired. I tried to watch a movie that I really want to see today on Netflix but my buttucks was hurting too bad so I asked to lay down an hour and a half early. And then I couldn’t really talk to Alexa cuz I was crying so hard cuz of my depression that she couldn’t play the songs that calm me down. I got on here when I got up after lay down time to talk to you all about it but I’ve been doing that basically everyday for this whole week but I didn’t really want to bring y’all down and I always basically come on here to complain it seems so I kept like idk chickening out. But today I saw your post and it really warmed my heart. Thank you for thinking of other people and asking how we’re doing. It means a lot. 💞

    • #24063
      Michael Morale

      Crystal –

      My name is Michael Morale, and I’m the Senior Director of Multi-Channel Content for SMA News Today, along with their parent company, BioNews Services.

      I read your comments about the pain that you’re going through with regards to your buttocks and your tailbone. I wanted let you know that there are so many of us that are going through the same issues, and I wanted to let you know that you’re not alone. I can give me some suggestions that I’m trying to help eliminate these issues, but please remember that these are just my suggestions.

      • About 3 years ago, my buttocks started to hurt during the day, while I sat in my wheelchair, and this discomfort was never a problem until that time. I went to countless doctors, and went through a few CT scans to try to determine what the problem was, and after numerous tests, they told me that I had lost most of the fat and muscle in my right buttocks, which I guess they call the gluteus maximus. Essentially, I was sitting on nothing but bone and nerves, and this caused severe discomfort not only in my buttocks, but also in my thigh and calf in my right leg. I spoke to my physical therapist about this, and they did quite a bit of stretching and range of motion exercises in my right leg, which over the course of time, has definitely helped. If you are taking physical therapy, I would speak to your therapist about this to see if they can maybe stretch your hips out just a bit more and possibly work on the range of motion.
      • Try different cushions in your wheelchair as well. Instead of sitting on foam, try a cushion that is made from an air bladder, which is called a Roho cushion, or maybe try a cushion that has a jel insert. I’m going to be trying a new cushion that has a jel insert in the next couple weeks. They say that this will help disperse some of the pressure in your hips and your buttocks. I haven’t had a chance to try one yet, but everyone that I’ve spoken to you so far, has said that they work really well. By dispersing the weight on your tailbone, this might help relieve some of the pressure and the pain that you feel. If you have a physical therapist, speak with them about these suggestions, and if you work with a wheelchair company, see if they can provide you with a sample cushion that you can use to test out before you purchase one. By the way, most insurance companies will cover the cost of a new cushion every year, so check with your insurance company as well.

      I hope these suggestions will help you.

    • #24065

      Thank you, Micheal! It’s definitely a huge comfort to know that I’m not alone with this since I’ve been feeling very alone. I usually talk to my brother about this stuff cuz even though he doesn’t understand it really since he doesn’t have SMA, he always gives good advice and comfort but we’re not really on speaking terms at the moment. But knowing that I’m not alone definitely makes me feel better.

      We’re trying to stay away from hospitals at the moment what with the Coronavirus going on and all, but my mom already said she thinks that what you described is the issue. I don’t have a physical therapist but we’re trying to get a home health aide right now. My home health aide usually stretches with me and whatnot but my good one quit abruptly. Now we’re struggling to find a new one. And my family members do so much for me during the day that I don’t even want to ask them to work out with me, especially since my moms have bad backs and my brother works 2 jobs now. But I have tried the jell seat. I did not like it at all! We got it cuz the guy who was customizing my newest wheelchair recommended it and as I’ve had him since I was a little girl and he’s never let me down, I decided to try it. I’m not saying that it won’t work for you but for me it did not work at all. My legs always felt like they were kinda falling asleep except it was hurting extremely bad. And my buttucks and hip were constantly hurting. We eventually started using my pillow folded up under my buttucks and that helped a lot for a while but now it’s not anymore. Now we’re trying a donut shaped pillow. When it works, which depends on how I’m positioned on it I realized yesterday, it’s great. But when it doesn’t, it feels like needles going into my buttucks. Right now I’m positioned pretty good but I am kinda looking forward to lay down time today cuz you know if you stay in one position for too long it hurts regular people. Lol. Anyway, thank you. I hope that the jell seat works for you and if not that you find something that does. Maybe try a donut shaped pillow too? IDK.

    • #24071
      DeAnn R

      Group hug! Sometimes SMA sucks.

      Crystal, have you ever considered consulting with a physiatrist? I didn’t even know they existed until a few years ago. They deal with a wide range of medical issues including pain management. Might be worth considering if your primary physician would give you a referral. You might even be able to do a telemedicine consultation.

      Something that helps me during difficult times is to appreciate the fact that others can still enjoy what I can not. I know it’s not the same as being able to do it myself, but knowing it brings them joy helps. One thing I miss is going on our dock at the lake and going for a pontoon ride. Like you said Crystal with the midnight snack, it’s just not worth the effort to get the assistance needed. I can’t help feeling a little left out when others do it without giving it a second thought. As long as they enjoy it though I can be okay with it. Or at least try to be.

      Alyssa, to answer your question I’m doing alright all things considered. With everything going on I’m struggling with what risks to take. My dental office called to reschedule my routine appointment I missed but I thought October was too soon so just made it for next April. I haven’t called my OT back when they left a message to schedule an appointment, but had a mini panic attack at the thought of going back even though I know it would be beneficial. Then there’s the whole issue of social functions. Gah! Deep breath.

    • #24077
      Alyssa Silva

      Yes. Big group hug and deep breaths!

      Crystal, you could never bring us down. We all share the realities of SMA, and while our experiences may not be the same, they still resonate in their own way. Hopefully, Michael’s and DeAnn’s suggestions will help bring some relief. I suffer from chronic neck and shoulder pain but don’t do anything about it. I wish I had more insight for you. But hang in there girl. You got this.

      DeAnn, I know what you mean. Having to outweigh benefits vs. risks is a tricky thing. But something like the dentist you’re probably better off prolonging. Especially if there’s a surge in the fall. Mini panic attacks seem to be my baseline these days so I feel ya lol.

    • #24088

      Thank you all! Yes I am glad that other people can enjoy these things but still it’d be nice to be able to enjoy them myself as well. Mostof the time I’m okay just watching other people enjoy their selves just like watching a movie is enjoyable. But lately I’ve been tired of SMA in general and those small things just add to it you know? Today my mom put some kind of foam in my chair to see how that goes and it was working good for a while. It’s just now starting to hurt but it’s hurting real bad. Ugh.

      I’m gonna have to go. I have more to say but I just can’t. I’m sorry.

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