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By Any Other Name…..

August 1, 2014



What’s in a name? That which we call a rose
By any other name would smell as sweet.”

 -William Shakespeare, Romeo and Juliet (II, ii, 1-2)


I’ve been back and forth about writing this post. It’s been a very long time coming. And yet, it’s still not quite the whole truth yet…. But perhaps it’s something.

We finally have a semi-official diagnosis for Mary. I met with genetics again last week. It’s nothing really earth-shattering, except that some scientists (the ones in Europe I have been back and forth with) now have their paper published in the latest edition of Nature. They linked the set of symptoms that they believe to be related to the same mutation that Mary has to something called Primrose Syndrome, something that previously only 5 people in the world had ever been diagnosed with.  And now, on paper at least, my sweet little girl has Primrose Syndrome.

But does it fit? Well, yes and no. She has some of the features mentioned, but certainly not all. I could go line by line and argue this way and that, but the fact is, that there simply isn’t a large enough sample size to be sure of anything. She has a lot of concerning symptoms that are apparently not part of this diagnosis. But then again, when there are only five other stories to compare to, why isn’t her story just as valid as those of the others?

There is certainly enough evidence for me to look at this seriously. To consider that the path that has been followed by those who have gone before her in this diagnosis may be relevant to her. It is, as the doctors have long suspected in her case, a progressive and degenerative disease. That said, it is not as fast-moving as many of the others we have looked at. If the researchers are correct (which, in my mind anyway, is still a pretty big if), then she will likely experience brain calcifications, joint contractures, and muscle wasting by her thirties. Cataracts and insulin-resistant diabetes should also be expected.

Awesome. (sarcasm)

So what the hell am I supposed to do with this?? When there are only five people in the world with the same syndrome, it is highly unlikely that a big pharmacy company is going to put this on their priority list….

So what do we have?

There is only one way I can answer this.


We have more time than what they told us before…. So much more…. For that I can’t help but be grateful.

So, in our typical fashion, we’ve been doing our best to enjoy that gift and have a little fun this summer. I cut way back on the therapy schedule. Irresponsible? Perhaps… Worth it? You bet.

We got season passes at a local amusement park. It’s an hour and a half away, but they accommodate my kids, and they have an attached water park. We’ve been there three times in the last week- therapy in the morning, amusement park in the afternoon. It’s an exhausting schedule (especially since for whatever reason, Daddy has had a surplus of trips this summer, so I’ve been flying solo a lot..) but I would do anything  for that smile.

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A few times while we were here, I met the same woman, waiting in the same spot for kids to get off of a roller coaster. The first time, we talked for a while. She took immediate interest in Mary. I recognized the look in her eyes as she cautiously asked her questions. It was a familiar look. Her son was a special needs child too, she explained. She had lost him, only a few short years ago. On another day, when we met again, it was already as though we were old friends. Somehow, once you’re part of this club, even after your child leaves, you will always belong. She spoke of him with such love, as though he was still here, and in a way, even though I only knew him through her story, as she spoke, it was evident to see that he was… still here… It hurt my heart to see the pain in her eyes, but to know, so clearly, how blessed I still was to have my three beautiful gifts still here, still laughing on the rides, still enjoying it all…..


We also invested in some kayaks, and have been kayaking nearly every afternoon- at least the days we’re not at the amusement park. 😉


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We even managed a couple of weeks so far to spend with our families up in Cape Cod. We enjoyed beaches, toured sand dunes in Provincetown, and even got to Heritage Plantation where the kids got to sit in a real Ford Model T. We made new friends, it seemed, wherever we went. Folks would notice Mary’s hearing aids and suddenly we had a whole new deaf community to meet and sign with, finding familiarity in a shared language. We found new buddies to jump in the surf with because wherever Joyce goes, she makes a friend.


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My side of the family on the dunes of Provincetown

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One of my favorites in Provincetown- Cabot Candy where they make the saltwater taffy…. So many choices… mmmmm. 😉

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The excitingly busy streets of P-town.

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Building a teepee with my husband’s parents.

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Hang on! Mary’s at the wheel of a Ford Model T! 😉

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Discussing an old car with his grandparents

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All this vacationing can make a girl thirsty!

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A sleepover with a new little cousin

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That’s some of our summer so far… We have so many more plans and there is so much I want to tell you about all of this. But for now, the pictures will have to do. Because we’re busy enjoying this gift we’ve been given. We’re busy enjoying this time, and we’re busy preparing for our next adventures.



And what comes will come, and I suppose that there’s not a whole lot we can do about that. This is the same limbo we’ve been living for years now, facing an unknown future, trying our very best to make the best of what we have, right here, right now. Trying to enjoy the light through the trees, dancing in the silence, laughing at the moon.


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4 Comments leave one →
  1. therocchronicles permalink
    August 1, 2014 3:45 am

    The photos show a summer well spent. Enjoy it. That last line, perfection.

    • August 1, 2014 3:46 am

      Thanks. 🙂 It has been intensely wonderful.

  2. August 11, 2014 12:44 pm

    I want to print this out and pin it up on the wall in my office so I can read it and re-read it often.

    “And what comes will come, and I suppose that there’s not a whole lot we can do about that. This is the same limbo we’ve been living for years now, facing an unknown future, trying our very best to make the best of what we have, right here, right now. Trying to enjoy the light through the trees, dancing in the silence, laughing at the moon.”

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