Log In or Register to Join The Conversation!

Sponsored Post

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

  • Author
    Posts
    • #11266
      Mike Huddleston
      Participant

      I put this in my profile, but adding it here as well:
      My name is Mike Huddleston.  I’m 54 (exactly when and how that happened, I’m not sure!), married with no children, and still work full time as a Systems Analyst.  I live in Maryland, closer to Baltimore than DC.

      I was diagnosed with Type 3 via muscle biopsy back in 1979 at the age of 16, although I was symptomatic for several years prior to this.  I am the youngest of 5, and the next two older siblings also have SMA, although they were symptomatic at much younger ages.    I was ambulatory, at least by some definition, until 2015.   I have been approved for Spinraza and am working with Dr. Crawford at Hopkins.  I will be treated at an offsite facility due to some goofiness in budgeting, and they are currently finalizing those details.  I will be either his second or third adult Spinraza patient and when we spoke last week, he said hopes to start the loading doses in March.

      Looking forward to interacting with others here.

    • #11269
      Alyssa Silva
      Keymaster

      Best of luck on your Spinraza journey, Mike! Sending you well wishes.

    • #11270
      Kevin Schaefer
      Keymaster

      Thanks for joining us here Mike! Echoing what Alyssa said, I wish you the best with Spinraza. It took getting around several loopholes for me as well, but I started treatments last November. It’s going well so far.

      I’d love to hear more about your life in general. We have multiple discussions going on here about living independently, working, etc. Looking forward to talking more with you.

    • #11341
      Júlia Ayerbe
      Participant

      Hi Mike, very happy to hear from you! I am curious about your treatment with Spiranza, since I am SMA III too.

    • #11392
      Julie Richie
      Participant

      Hi, My name is Julie and this my first time to write anything on a Forum or whatever this is.  Please forgive and teach me if I’m breaking some sort of etiquette on here.   I am 51 years old and have Type III.  I work full-time and then some and am married and have two adult children.  It is assumed that my grandfather had SMA but he was never diagnosed.  I have no other family that has it.  I am ambulatory but mobility is declining.  Or was.  I am have had 3 of my loading doses.  I am already seeing improvements!  My stability while walking has improved and so has my speed.  I have experienced several of the side-effects of the Spinraza but it’s worth it to see the improvements so clearly.

      • #11393
        DeAnn R
        Keymaster

        Welcome Julie!  This is the perfect place to start on the forums.  I always find the genetics of SMA fascinating as it didn’t show up in my history except there were a couple of infant deaths that raise my suspicion.  Glad to hear you’ve started Spinraza.  Please if you get a chance share your experiences in the Spinraza section of the forum.  I’m curious as to the side effects you’re referring to.  Perhaps others have experienced them as well and could help with solutions, or at least would make others aware of what to possibly expect.  Thanks!

      • #11397
        Kevin Schaefer
        Keymaster

        Thanks for joining us Julie! Echoing what DeAnn said, this is a great place to connect with other people in the SMA community.

        Glad you’ve started Spinraza and that it sounds like it’s going well so far. I finished my loading doses in January, and my first maintenance dose is in May.

        Keep us updated and feel free to ask any questions you have.

        -Kevin

    • #11394
      DeAnn R
      Keymaster

      Hey Mike!  Any closer to those Spinraza injections?  Just wondering how it was going.

Viewing 5 reply threads
  • You must be logged in to reply to this topic.

©2020 KLEO Template a premium and multipurpose theme from Seventh Queen

CONTACT US

We're not around right now. But you can send us an email and we'll get back to you, asap.

Sending
or

Log in with your credentials

or    

Forgot your details?

or

Create Account

Copyright © 2017-2020 All rights reserved.