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    Adapting to Life Outside Our Home With SMA

    I once heard a joke that a woman’s mind is like an Internet browser that has 1000 tabs open and running at once. I laughed at the time, but came to realize that if I didn’t actually feel like this before hearing the short acronym “SMA,” I most certainly do now.

    I spend much of my time pre-planning and thinking of possible problems that we may run into because of the kids’ diagnoses. I think many other SMA parents do this as well. Prior to our lives with SMA, we didn’t realize just how inaccessible the world is to those who are differently-abled.

  • This topic has 1 reply, 2 voices, and was last updated 8 months, 4 weeks ago by DeAnn R.

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      • #17553
        Michael Morale
        Keymaster

        SMA was recently added to the national registry for newborn screenings in the United States. While this is an important step, more work needs to be done to ensure that every infant gets tested for spinal muscular atrophy during the newborn screening process.

        Each state works independently from this national registry, and it must be adopted by each state to be added to the state level. Some states have already taken the steps necessary to add SMA to their registry, but many have not.

        We at SMA News Today are making a concerted effort to inform our readers as to the importance of this topic. Many of the children who have been on Spinraza since birth are meeting milestones that able-bodied children are meeting. Some of these children are walking and running, and the importance of getting these children on treatment as soon as possible cannot be understated.

        With this being said, we need the help of every person here. It takes special testing equipment to test for SMA, and once added to the state list, the state can then fund the money necessary to purchase the equipment to test for SMA. If you go to https://www.babysfirsttest.org/, you can go to the state in which you live to find out if SMA has been added to the state level. If you find that SMA is not on your individual state screening list, we urge you to contact your congressperson, senator and governor, and urge them to add SMA to the state level registry list. My next video will go into greater detail about this topic.

      • #17727
        DeAnn R
        Keymaster

        A very important topic Michael.  Here’s a letter I wrote regarding this topic over almost two years ago.  I sent it to my legislators and to a group pushing for screening.  Minnesota is now among a handful of states doing infant screening.

        To Whom It May Concern (everybody in my opinion),

        Technology has come a long way since I was a kid.  It took a muscle biopsy to figure out why I wasn’t walking by the age of two.  I still have a significant scar.  When it was discovered that I had Spinal Muscular Atrophy my parents were told there was no treatment and no cure.  Times have changed.  Now you can test for SMA with a simple blood draw.  Recently a treatment was even approved by the FDA.  No longer is SMA an automatic death sentence. Symptoms can be managed or even reversed.  Screening at birth would allow lifesaving treatments, such as Spinraza, before devastating symptoms occur.  I’m requesting legislation be passed requiring automatic screening be done at birth.

        SMA is a tricky disease to diagnose.  More often than not doctors don’t know something is wrong until something is WRONG.  When my younger brother was born, again the doctors thought he was perfectly healthy.  My parents were assured he didn’t have what I had.  Their tune changed when at just a few months old he had an abdominal hernia due to weak muscles from SMA.  During surgery to correct the hernia, my brother woke up because he wasn’t given the appropriate amount of anesthesia.  He was so young he didn’t remember, but for our parents it was terrifying.  No child or parent needs to go through something like that.  Fast forward to now.  If automatic screening had been done doctors would have known he had SMA at birth starting him on treatments that in all likelihood would have prevented such a traumatic event or at least prepared my parents.

        As the number one genetic killer of infants, it only makes sense to automatically screen newborns for SMA.  I have to wonder how many infants die from complications from SMA and their parents never even know it.  Because breathing complications are so common, an infant with SMA can catch an ordinary cold and have it be fatal.  At least if they know their child has SMA they can take extra measures to help should their child become ill.

        For the sake of myself and others I urge you to screen infants at birth.  Every day I wonder if I’ll see my 40<sup>th</sup> birthday.  My brother didn’t get that opportunity.  He passed away when he was 4 years old.  With early screening in conjunction with Spinraza I feel odds of getting to that milestone would increase.  If detected early, infants and children may never need to know how debilitating SMA can be.  Hope is priceless.  By infant screening hope would be gifted to so many.

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