• Don't roll the dice with a life, get tested

    Don't roll the dice with a life, get tested

  • Don't rely solely on family history.  Get tested

    Don't rely solely on family history. Get tested

  • SMA testing gives you

    SMA testing gives you

The need for genetic SMA testing

Certain people carry the potential for the disease - these are called carriers. Carriers do not have the disease themselves but are the building blocks to create a child with SMA.

Carrier's present no symtoms of the disease, so they may never know then even are carriers. Family history is not a dependable way to predict if you are are carrier. In our situation, both my wife and I came from large families that and can trace out lineage far back. This is why it is important to get a genetic test prior to starting a family or deciding to have anoher child. If two carriers do meet and have a child there will be three possible outcomes:  
25% chance the child will not possess the carrier gene or have SMA - they will be "normal"
50% chance the child will also be a carrier of SMA
25% chance the child will have SMA.  This is how Nora has SMA.

To be absolutely sure if you are or are not a carrier, you need to undergo a simple inexpensive genetic screening test.  The Counsyl Family Prep Screen test is taken at your convenience in your home.  It arrives in the mail and each screening test kit contains a small vile.  The procedure is very simple: spit.  The instructions are to spit into the vile until it's filled to a clearly marked line.  Then, you seal it, and mail it back via the enclosed envelope.  It approx two weeks, you receive your results.  The Family Prep Screen covers many of the other common (severe) genetic conditions.  You can see the full list by clicking here or visiting Counsyl.com  It will tell you which, if any, you carry.  Most of these genetic conditions require both partners (Man & Woman) to both be carriers - so both partners need to take the test.  My wife and I are both genetically confirmed carriers.  We had the proof already in the form of our daughter, however we still decided to order a Counsyl test.  The Counsyl test confirmed what we already knew.  We, of course, were not aware of our carrier status until after Nora was born and displayed symptoms of SMA.

The Counsyl test is inexpensive although the information you receive from it makes the cost nearly irrelevant.  In our experience, the private insurance my wife and I each carry paid for the test.  

SMA

SMA Carrier Testing

Spinal Muscular Atrophy is a genetic disease.  It's something you're born with, it's not something you catch.

Certain people carry the potential for the disease - these are called carriers.  Carriers do not have the disease themselves but are the building blocks to create a child with SMA.  If two carriers,

Read More
  • 1 in 40 are carriers of SMA

    1 in 40 are carriers of SMA

    1 in 40 people are carriers of SMA

  • Two carriers, three possible outcomes

    Two carriers, three possible outcomes

    How SMA is inherited from two carrier parents