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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 2 replies, 3 voices, and was last updated 2 years, 6 months ago by Kevin Schaefer.

  • Author
    Posts
    • #11340
      Júlia Ayerbe
      Participant

      <span style=”color: #777777; font-family: ‘Open Sans’; font-size: 13px;”>Hi, my name is Julia, I am Brazilian, I have 35 years old, and now I am living in Madrid, Spain, to study a Master Degree in Contemporary Art History. I work as editor of art books. I have SMA type III since I was a child, but I was dignosed wheen I was 19. I use to be very tired and I have hard time with stairs and long walks. I am not in a wheelchair yet. I am single and have no children, but I am thinking about it, since I am 35. I am very curious about Spiranza, I read that many of you started the treatment. In Brazil is super expensive, and also in Europe.  Very happy with this channel of communication. Hope to talk more with you guys,</span>

    • #11342
      DeAnn R
      Keymaster

      Nice to meet you Julia!  Welcome to the forums.  Your field of study sounds very interesting.  Although I appreciate the arts I’m not very knowledgeable on the topic.

      I think it’s great you’re still pretty mobile and are thinking of starting a family at some point.  Several individuals with SMA have done just that.  It’s not something I personally have experience with.  As with everything in life I’m sure it has its challenges.

      What I do have some experience with is Spinraza.  My fifth dose is coming up.  I describe it as hitting the pause button on SMA.  As time goes on I hope the cost goes down and it becomes more readily available across the globe.  Currently many countries are putting restrictions on who can receive it.  Biogen, the pharmaceutical company, just put out a report indicating it is beneficial for older patients as well and not just for type 1, so that’s a step in the right direction.

      Feel free to ask more questions.  We love hearing from you.  Have a good day (or night)!

    • #11345
      Kevin Schaefer
      Keymaster

      Nice to meet you Júlia! Thanks for joining us here.

      Your career sounds really interesting. I studied English in college and I write comic book scripts on the side, so I have an interest in pretty much anything related to the arts.

      That’s also great you are interested in possibly starting a family sometime in the future. Echoing what DeAnn said, there are plenty of SMA individuals who are married and have kids. I’m still young, so that’s not really on my radar right now, but know that it’s definitely possible.

      I also have started Spinraza, and I’m happy to answer any questions you have in regards to the treatment. Hopefully the price will go down eventually!

      Thanks again for posting, and feel free to reach out to me or anyone else here.

      Best,

      Kevin

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