SMA News Forums Forums Our Community Adults ​With​ ​SMA What’s Your Diagnosis Story?

  • What’s Your Diagnosis Story?

    Posted by deann-r on December 16, 2022 at 9:11 am

    My SMA diagnosis came after Mom insisted something wasn’t right. I wasn’t walking like my sister was at that age. At first, doctors brushed it off as being slow to catch on.
    Finally, after the third visit, the doctor conceded. I was referred to a specialist who did a muscle biopsy to confirm the diagnosis. When my brother was born shortly thereafter, doctors said he didn’t have it. A few months later he developed a hernia. This made them come to the realization he too had SMA.

    Diagnosis has come a long way since then. Newborn screening is becoming the norm. Earlier diagnosis typically leads to a better prognosis. Now that treatments are available that’s more important than ever.

    What is your diagnosis story? Do you think it would have made a difference to be diagnosed sooner?

    alyssa-silva replied 1 year, 6 months ago 3 Members · 6 Replies
  • 6 Replies
  • alyssa-silva

    Member
    December 19, 2022 at 11:33 am

    Similarly, I had a muscle biopsy done. I was a normal baby up until about 3 months of age. Then my parents noticed I had tremors and couldn’t roll over. I had just received a round of shots days before my symptoms started showing (I don’t remember which ones), so they thought it was attributed to that at first. Not sure how, but eventually they met with a neurologist who ordered the biopsy. At that time. the neurologist and my pediatrician hardly knew what SMA was.  I was just shy of 6 months.

    • deann-r

      Member
      December 21, 2022 at 8:50 am

      I bet it was nerve wracking for your parents. Did they suggest any therapies back then?

      • alyssa-silva

        Member
        December 21, 2022 at 7:07 pm

        Sadly they told my parents there was nothing. They gave me two years to live and basically said to take me home and love me until the inevitable. Totally different world back then.

  • dennis-turner

    Member
    December 20, 2022 at 7:48 pm

    I was diagnosed at 15! By muscle biopsy.

    I had just gotten to the point that I couldn’t quite keep up with others, and I fell very often.  Back then (1976) I was told I had Kugelberg-Weilander Syndrome and NOT to exercise because it would kill my muscles.

    How times have changed.

    • deann-r

      Member
      December 21, 2022 at 8:46 am

      Was it frustrating at that age knowing something wasn’t right? I can’t imagine not knowing since it’s something I grew up with. We’ve learned a lot but I always think there’s so much more to figure out.

  • dennis-turner

    Member
    December 21, 2022 at 4:04 pm

    I am too easy going to worry much about anything. What would happen will happen.

    I think it was harder for my mother than it ever has been for me, she blamed herself even though our family had never experienced anything like this.

    For myself, I just kept going, until that became too hard and I needed help. Looking back I took too long making the jump from walking to scooter and missed it on some things I just couldn’t do.

Log in to reply.