The Cowden’s Syndrome Roller Coaster

Maybe if I could attach my cell phone right here…

I can not tell you for the life of me why Spiderman was on my mind today, but I was thinking I could use one of those web shooting things.  It could be modified to hold the cell phone that is constantly in my hand!  I remember when Meghan was so colicky, and I used to carry her all day in that Baby Bjorn carrier.  I LOVED having my hands free again.  I hated that she just kept crying, but at least I could move around a bit. I am starting to feel painfully tethered to my phone.  I waited forever for the vascular surgeon to call.  Now Dr. K from Boston called Saturday, and we still haven’t connected.   

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Paranoid to miss his call, I carry my phone EVERYWHERE I go. I am not kidding, that is my cell phone in the plastic bag at the beach today.

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Today was a banner day. 

It was the FIRST time we have been to the beach since before her first birthday.

  This child was so sensory sensitive that we were both deeply traumatized by the first trip.  It took us almost 8 years to work up the nerve to do it again, and boy has she come a LONG WAY!

 We only stayed a few hours. 

Long enough to get into the sand and build a castle.  Long enough to find a few shells.  Long enough to jump a few waves.  Long enough for her to say, “Mom my knee is clicking every time I step and it hurts.” 

Clutching my old scratched up cell phone like it holds the answers to all life’s problems I silently, desperately, wish it would ring. 

But then what? 

Will Dr. K have a single answer? 

Will he want us to drive 5 hours just so he can say, “I don’t know?” 

Yesterday we saw Dr. P – the geneticist at NYU who started all this about a year ago.  

It was a friendly visit, catching up on all we have done.  I had a chance to thank him for “catching” the Cowden’s Syndrome a year ago.  It was his desire to dig deeper, and to solve the puzzle, that undoubtedly changed the course of our lives, and likely already saved mine.

 He asked a lot of questions again.  He looked closely at Meghan, especially her legs.  He pointed out again the 1/2 cm discrepancy.  He pointed out the swelling in her LEFT knee, likely the result of her favoring her right knee. (The AWESOME PT Dr. Jill, already called that one!) 

He listened to my concerns about her avoidance of activities.  He said the fact that the Celebrex is working means to him she likely has arthritis due to deterioration from small amounts of blood circulating the knee joint.  Not JRA, but degenerative arthritis.  He said she can’t stay on Celebrex forever. And although I knew that I was busy shuddering at the alternatives. 

He will nose around, and see if he can get a closer orthopedist to take a look.  Then he will look for an oncologist for me.  In the mean time he said, let’s just get a screening sonogram of her kidneys, to be safe.  Just a baseline. 

3 hours later we had word that her kidneys are “beautiful” and untouched by Cowden’s. We left NYU exhausted, and relieved, but still waiting.  Always waiting, and wondering, and worrying.  What next?  Can we fix it?  Wait… nothing new please!  We haven’t fixed the last thing yet… and so on and so on. 

 Tomorrow we will go back to the pediatrician to recheck for the recurrent strep.  Then, a much anticipated play date for Meghan.

Then Friday, its to the plastic surgeon for my recheck, with another playdate for Meghan. 

All the while my cell phone will be close at hand. Last year at Disney they finally got me on Big Thunder Mountain Railroad.  Good thing.  I think it’s a case of life imitating amusement park here. 

Cowden’s Syndrome is a great big roller coaster, so I better get a stronger stomach!

You can’t make this up…

So I waited, again, all day for the phone call about the knee.  I put in my reminder call at 10 this morning and again at 4pm.  I was told they would look it over after their patients.

The call came at 5:20.  It was from the surgeon’s PA who does know Meghan and has sat in on her cases from the start.  The doctor doesn’t make the phone calls- ever.  I must admit for some reason I did not tell the PA that I was holding a copy of the report as she spoke to me.  I really wanted to hear what she had to say.

Actually what I REALLY wanted, was to hear, “You have a stable AVM.”  Let’s look at it again in 6 months.  I would have been jumping up and down.  I am beginning to like ” 6 months.”

That is what I was ready for – but this is what I got…

“We reviewed your daughter’s MRI and it is normal.”

NORMAL?

“Yes it is a normal MRI.”

DO YOU MEAN THERE IS AN AVM THERE THAT JUST ISN’T GROWING?

“No we don’t see an AVM.”

THEY TOOK 5000 IMAGES (and that this point I wanted to shout that the damned report cites a 2.8 x0.7cm mass, but I didn’t) ARE YOU SURE YOU LOOKED AT ALL OF THEM?

“Yes, there is no evidence of an AVM.  I know you wanted Dr. K in Boston to review these images..”

NO, I NEVER EVEN KNEW THERE WAS A DR. K IN BOSTON UNTIL YOU TOLD ME TO CONSULT HIM! SHOULD HE REVIEW THE IMAGES?

“That is up to you.”

WELL WHAT ABOUT THE FACT THAT THERE IS A PALPABLE  MASS ON THE INSIDE OF HER RIGHT KNEE ABOUT THE SIZE OF A PEANUT?

“Oh, you should bring her in so we could look at that.”

IT HAS ALWAYS BEEN THERE!!

“Bring her in so we could look at it.”

(In my own mind…you have a CD ROM with 5,000 images.  You have a report that says there is a mass, but yet somehow you pointing to it and saying, Yep that’s a mass is going to make this better?)

I walked for about 2 hours after this call.  It took that long to shift my emotions from irate to angry.

Once again with my back against a wall, I will call tomorrow for an appointment.

Another wasted day in NYC with its pricey parking garages, and doctors that are supposed to really give a crap.  Another day of summer burned for nothing.

Starting to feel like I am in the Twilight Zone.

Thanks PTEN.  Thanks Cowden’s Syndrome.  I like you about as much as Dr. R. – and right now that isn’t saying much!