Getting Answers

I can definitively say that this past Friday through Monday were the worst 4 days of my life.  Armed with the diagnosis of rhabdomyoma that we had been given on Friday, we hit the halls of the Google School of Medicine only to be slammed in the face by a genetic disease called Tubular Sclerosis Complex (TSC) – the cause of  50% to 80% of cardiac rhabdomyomas diagnosed in utero.  The more we read about this condition, the more our hearts fell.  Over the weekend I managed to hold onto a few talismans to convince myself that we were in the 20% to 50% who had the cardiac mass but not TSC — our doctor (who’s pretty direct) didn’t mention it, we had genetic testing done, only one mass was seen, etc.  LG – who relies much more on facts than the “glass half full” mind games I play on myself – wanted more concrete answers.  So, despite my wishes, he phoned our genetics doctor (with whom he has some weird connection…maybe it’s because they’re both super quant numbers guys?), to ask him what he knew about the condition and whether we had been tested.  We had not – it’s not tested for in a typical amnio and, in fact, can only be tested for if there is a known family history (present in about half the cases) so they know what mutation they are looking for in the genes.  With that, all of my defenses fell.  Monday was a day of grief the level of which I’ve only experienced when my father died nearly 7 years ago.

Yesterday, we went in for a repeat Level 2 ultrasound, a consult with a MFM, and, most importantly, a consult with a pediatric cardiologist along with a fetal echocardiogram.  Minutes into the exam, she told us she did not see a mass, which ruled out a diagnosis of TSC.  I cannot describe the relief I felt in  that moment.  The relief – while still very much present – diminished as the exam continued.  Our little Nugget has a collection of serious heart defects – the most severe of which will require open heart surgery within the first week of life.  I will write more about the specifics as we learn more (and after my family passes through the mad-Googling stage…while I think it’s unlikely my little blog would come up in a search, it is completely anonymous from anyone IRL, and I want to keep it that way).

We are stunned and scared but still feeling the relief that comes from knowing that this should be a fixable condition and not one that will cause lifelong systemic complications for our baby.  We feel very confident with the medical system we’ve just been catapulted into – particularly our OB (who we originally didn’t like and almost switched early on!).  LG and I have long talked about moving to a remote area where we can get some land (in the Colorado mountains if I have my way), but for now are glad to be in a major city with one of the top children’s hospitals in the country.  It happens to be near our neighborhood.  I can’t tell you how many times I’ve ridden the bus by it and wondered about the stories unfolding behind those wall.  Now, we will be one of those stories. I’m channeling all my “glass half full” mindgames to say that I think it will have a happy ending.

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8 Responses

  1. Oh Callie, I can’t imagine how worried you both are right now. I’m sending all my positive thoughts the way of you, LG and little nugget. I hope that relief holds out, I too have a great faith in the medical profession (my niece was born with a heart defect and had juvenile arthritis and she is now a healthy, happy 5 year old) and I am sure you are in the best and most capable hands possible.

    Don’t hesitate to email if you feel like you need to offload.

  2. I also can’t imagine what you must be going through now and the roller coaster of the past few days. Tons of positive thoughts are going your way.

  3. I’m glad you got some answers! Now you and LG can move onto dealing with all the emotions of the diagnosis. Give your Little Nugget an extra squeeze from me! I’m thinking about all of you and sending you SO much love!
    *HUGS*

  4. Bad-but-could-be-worse news definitely qualifies as glass half full.

    Thinking of you, and hoping that the only surprises left in store for you are happy surprises.

  5. Thinking of you. These are really tough times. But I’m hoping beyond hope that there are brighter days ahead.

  6. I am thinking of you and sending lots of strong and positive thoughts your way.

  7. I’m trying to find the right words to say, but all that comes to mind is, “Well, shit.” I mean, it could be worse, and that’s I guess positive. But heart problems… shit, man.

    I don’t know if this is similar to what your baby has, but I know a girl whose baby had a heart problem and had multiple surgeries. Her son’s blog is here: http://www.babysamson.com/ He is doing fabulous now, a very active child.

  8. Thank you all so much for your words of support and happy ending stories. That’s what we’re holding onto the most – the fact that according to our doctors, while they of course are giving no guarantees, most children with this do remarkably well after the surgery. Nat – thanks so much for the link. I’ve been looking for blogs dealing with this diagnosis and have come up dry. Your suggestion was both inspiring and provided links to several blogs many of which have the same diagnosis as our Nugget. Thank you!

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