Your gentle touch, your tender care. A smile as bright as sunshine; a heart of no compare.
A spirit that will glow forever, in the memories that we share.

Saturday, March 26, 2011

Aidan's Genetic Test Results

I'm not really sure that Steve and I were ever hoping for the same outcome regarding the genetic testing for Aidan; it's been the one area of our journey where we've diverged a bit from our solidarity as bereaved parents.  He wanted the rest of our family to be spared the worry and medical intervention that would necessarily accompany a 'positive' result; I wanted to have an answer as to why my healthy little boy's heart suddenly stopped, without warning.  Now that the results are in, and they're negative, I'm still not sure either of us feels as if we've been granted presence of mind.

That's good, right? people say when we tell them.  It is.  It is, it is, I remind myself, because Devin and Quentin are most likely safe.  But it's still not an answer for my oldest son.  His death remains a mind-blowing, incomprehensible, irrational event.  Were we to be burdened with a positive result, in my mind, we'd then be able to move forward, test the rest of us, and thwart any future tragedies among us by arming ourselves with knowledge, medicine, and changes in lifestyle.

In talking with the geneticist at the testing lab, I was assured that, of the three main types of arrhythmia disorders for which Aidan's DNA was tested, we can be about 80 percent assured that none contributed to his death.  So, assuming the data is correct that suggests half of all unexplained sudden cardiac deaths due to arrhythmia occur as a result of a genetic mutation, we're fairly certain that Aidan did not die from something he inherited.  On the flip side, Mr. Geneticist reminded me, the medical community agrees that approximately half of all unexplained sudden cardiac deaths happen as a result of a 'spontaneous mutation' somewhere along the line of development, either induced by nature or by environment.  Huh???

And because defining the exact cause of death due to arrhythmia is a diagnosis of exclusion (or elimination), and because at this time, there aren't any more genetic tests available for us to pursue, we've reached the end of our road, for now, at least where scientific knowledge and access to that knowledge is concerned; our determination to continue our pursuit of an answer, however, is relentless.

I asked about long-term preservation of Aidan's blood, DNA, and tissue samples.  "Huh," Mr. Geneticist said, "that's probably a good idea," and I was told to Google 'biobanking.'  I was also reminded that genetics research is moving swiftly forward every day, and that costs will soon come down, and insurance companies are already starting to contribute more for families in need of testing.  Perhaps in five years, he said, maybe ten, we'll have another test that might yield results.  He was a nice man, very helpful in providing Genetics 101 instruction over the phone to my B+ Science brain, and I really did hear compassion in his voice as he ruefully explained that, for the few families such as ours who have reached a non-conclusion through this test, we're out of options.

So we know that we still don't know, and it feels like we know less each passing day.  We knew our son was one in a million, but never in this sense.  We know he was alive, healthy, happy, and having a great, carefree day one minute, and that he was gone the next.  Not being able to bridge the divide between his 'living' and 'nonliving' states of existence with some sort of rational explanation tears us apart inside.  The things you do to protect your children, to keep them safe, and to bring them back to health when you sense that they're not well; and yet this happens?  I'd never even known it was a possibility.

It's quite one thing for Steve and I to juggle this in our minds and hearts; quite another for Devin, who insists that he'll die, too, when he's seven.  Although I've assured him that he is healthy and will live through seven and beyond to old age, Aidan was healthy and he died, is his response.  I spew forth all the textbook-appropriate responses doled out to me by our therapists, but I don't believe them when they come out of my mouth.  I have the same question, and since Science couldn't help us avoid this tragedy, how can I trust Science when it tells me it won't ever happen again?

I've really hesitated in publishing this post.  In the past, I've only written when I wasn't feeling so much like I'm going insane, or like my insides aren't seething in pain and anger, or so resigned to this twisted reality that I want to dope myself up and not ever feel again.  People like you, however, have been asking for me to write, and to not worry about keeping a happy face while I do, and I'm grateful for the chance to write freely, no holds barred, for those who are up for it.  For those who aren't, I apologize if I upset you.  From this point forward, this blog might as well have a fat "Read at Your Own Risk" sign stamped above Aidan's picture.  I don't know where to go from here, with the search for Aidan's cause of death, with my struggles to manage the cards we've been dealt, with counterbalancing the joys and blessings in our lives with this awful truth, with the pressing, heart-clenching realization that we all likely will mourn Aidan longer than he was ever even with us.


  1. I love you. Thank you for sharing. Please don't ever apologize for anything you share on this blog... anyone reading this is only wishing there were something to do to take even some tiny part of your pain away. I'm so glad Amanda is with you right now. I wish I was too. xoxoxo

  2. Thank you so much for sharing this information, your thoughts, your feelings, everything... I really really appreciated reading this post - and I absolutely encourage you to keep writing from your gut. I feel so much after reading that, and wish I had your gift for words so that my response could reflect my feelings of pure and deep sadness, anger, rage, and love. Love all of you guys...

  3. Thank you for this post, for letting us walk beside you in this honesty, confusion, sorrow that is all mixed in with joy, blessings and love. I love you!!! Thank you for letting me know what is going on in your heart and mind. xoxo

  4. Thank you for sharing, fo rletting thoe who love you in on thi difficult journey. You are in my daily prayers. Know that you are loved and that we are here for you.

  5. Dear Christy thank you for your post. This can't make it any easier but just having something back and with the chance of future testing may bring some hope. Thinking of you always with love as your tender hearts continue to sigh with sorrow. BTW Quentin looks adorable in his duds and Devin is quite handsome with his Dad. May Spring bring flowers and a ray of sunshine into your day. Much Love Kathy & Steve

  6. I'm so sorry Christy! There is nothing more terrifying than the unknown. Even when what we know is terrifying, we can push forward, make plans. I'm so sorry that they had no answers for you. This is a low blow. I love you. Maura

  7. Thank you so much for your sharing your story. My son Adam passed away last June of a genetic rare heart disease and our family also has been tested and the result are also negative. I feel your pain with the worry of living our so called normal lives in fear of SCA. I was told in the beginning of our testing that since my son's disease is genetic that if came from either one of us and now that the testing was negative, I received the same confusing comment about that my son must have been the carrier and he must have caught a virus. I pray that one day, no parent will have to go through what we have and are continung to endure.
    Thank you again for posting your story.

    Peace and love to you and your family.


  8. Not sure how i came upon this post. It started at FB. with a missing child post from Chester county Trade. I'm so sorry for your loss and cannot imagine the unbearable, inescapable,unexplainable pain you have endured with the loss of a child. I'm looking for information about this law.God Bless you all and Aiden as he watches over you all.