From Despair to Acceptance to Elation

This is a deeply personal story involving the most precious things in my life – my wife Renee and 18-month old son Jack.  Renee and I have been considering having another child, but at our ages the risks of complications and child health issues are increased, so we have been actively seeking out as much pre-pregnancy testing as possible.  One of the tests that was recommended by our fertility doctor was the Spinal Muscular Atrophy (SMA) carrier test through a simple, and relatively inexpensive ($99) at-home saliva swab kit, and many insurance carriers will cover some of the cost.  We’d never heard of the test or the disease.  It’s important you read about this horrific genetic disease before progressing, but a few key points:

• SMA is a disease where certain nerves in the brain and spinal cord die, impairing a person’s ability to move.  In the majority of cases (Types 0, I, II) SMA manifests in infants and toddlers before the age of 2 and in most of these cases, death is the result.  The remaining cases (Types III, IV) result in various degrading movement levels and onset ages, but the majority of cases result in loss of independent walking capability sometime between 3 and 30 years of age.
• If you are a carrier of the disease, you cannot contract the disease.  Renee and I were being tested as possible carriers, as given our ages and no physical symptoms, it is obvious we do not have the actual SMA disease.
• Approximately 1 in 35 caucasians (where the disease is most prevalent) are carriers of the disease, so the likelihood of having two parents as carriers is roughly 1 in 1225.  And there must be two carriers of the disease to produce offspring that contract it.
• If both parents are carriers, there is a 25% chance that the child will be born with the disease, and 70% of those children will die before their 2nd birthday.  The remaining 30% have a wide range of prognoses and outcomes, ranging from inability to walk sometime between 3 and 20 years old to death.  There is no outcome, if the disease is contracted, where the disease is dormant forever.  As I said, horrific.
• There is no active testing protocol in place today for parents considering children or for the fetus during pregnancy.  This is shocking to me given the combination of contraction probabilities and severe outcomes if contraction occurs.  Because of this, the vast majority of parents do not know if they are carriers and the contraction of the disease in children or adolescents is only known once physical symptoms occur, which can be as early as birth and as late as adult onset (early 20’s).  Insidious.

Because of the lack of testing, parents and their children know nothing of this disease until symptoms show in the child.  But, our story is different.  Renee was tested early in January and received a positive test as a carrier of SMA, which we didn’t think much of outside of being a fluke.  Given her positive test, I needed to ensure I was not a carrier in order to guarantee absence of the disease in Jack and any future children.  However, on Friday, January 18, I received a positive test as a carrier of SMA, and our immediate thought was not about how does this impact our desire to have another child, but rather what does this mean for our 18-month old son Jack?

This moment began the most harrowing week of our lives as we waited for the genetic testing results from Jack’s blood draw.  An emotional journey through despair, intense and depressing research, mental preparation for the worst outcomes and finally, a focus on how to comprehend that our beautiful, strong son, who has zero symptoms of this debilitating disease, could degrade in physical strength and be in a wheelchair at any moment.  Or, it could take years to manifest itself.  It was this uncertainty – knowing if the disease was present, there’s no way to predict when symptoms would show or their severity – that we just couldn’t get our heads around.

Then we thought, should we even get the results?  How would knowing a positive test affect our interactions with Jack?  Would we treat him differently?  Could we as parents deal with the waiting, the imminent result?  We ultimately determined that knowledge was power, that a positive test would enable us to do everything in our power – time, energy and finances – to help our son.  And certainly a negative test would give us peace of mind, a selfish, but ultimately another important reason for us to know the results.

We cried ourselves to sleep for 10 nights, waiting.  Then, on Monday, January 29 our prayers were answered with a negative test for Jack.

Given our experience, and our dismay at the lack of proactive testing, Renee and I are going to at a minimum make a financial contribution and possibly get involved more deeply with Families with SMA, the non-profit association dedicated to research, funding and advocacy related to SMA.  We’ve been amazed over the past week at how many people have said, “yeah, I have a friend who’s child died from SMA” just within our personal networks.  It doesn’t have to be that way.  And we’d like to participate in the advocacy for a broader testing protocol.