I Am Blessed

This cartoon is on the front of Meghan’s 4 inch medical binder. We have sometimes decided whether or not to keep a doctor by their reaction to this TRUTH!

It is late.  I should be asleep.  Morning comes fast and it is already after midnight.  I just can’t seem to find a way to unwind. 

I just had a long chat with a ‘new” friend.  That helped a lot.  But still here I am, trying to get these racing thoughts out of my head before I rest.  

I saw a new oncologist today.  The geneticist insisted I have one to follow me and one for Meghan.  Except I was having a hard time finding one who didn’t think Cowden’s Syndrome was contagious.  (Ok, perhaps I exaggerate, but they weren’t anxious to see me.) 

So the geneticist sent out an Email on Tuesday to some of his friends.  By Friday he had a name for me, (which means the genetecist is a KEEPER!) of a doctor IN network, and I met her today. 

She is lovely.  Of course, by already having the double mastectomy and the hysterectomy, I have made her job much easier.  Now she gets to push me to the fun stuff.  Next up- colonoscopy, and kidney MRI.  So tomorrow I will call to get the GI appointment, while they work out the authorization for the MRI. 

And all the while I will mourn a bit for the summer that wasn’t meant to be.  This was more, a necessary doctor “catch up period.”  I think by the end of August we will have at least 25 appointments done between us.  And those are just the ones scheduled right now. 

So, just when I start to get whiny and cranky about wanting some alone time to shop, or some fun time to swim, I remember.  Were it not for the work of the angel on my shoulder, that pushed my “prohylactic blilateral mastectomy” in March, I would have likely been spending this summer prepping for cancer treatment. 

So, we still get our trip to Disney, and there is always NEXT summer… 

I spent the last hour preparing for Meghan’s oncologist visit on Friday.  We haven’t seen this doctor for months.  There have been a few things going on.  So, I faxed her 32 pages of what we have been up to.  She wanted to review it before the appointment. 

I posted the cartoon because I had her binder out while I was preparing the fax.  I laugh every time I read it because even after all these years it is still true.  Even with our diagnosis of the PTEN mutation, and Cowden’s Syndrome, even with the precancerous thyroid nodules in Meghan, and her early puberty, she still has pain.  Every day.  And not one of these doctors that we take her to can tell us why. 

I thank GOD every day for her stamina, and her spirit and her spunk.  She is my love, my reality check, my perspective, my reason for being.  I feel displaced right now, from my church, my comfort zone – but not from God.  Even in the midst of all the chaos and uncertainty, I have a husband and a daughter that are beyond compare.  God has us in the palm of His hand.  We are blessed.  And it WILL be OK!

Cloudy With a Chance of… Puberty?

Cloudy with a Chance of Meatballs

So, last night after we left the endocrinologist‘s office, I couldn’t shake this book.  “Cloudy With a Chance of Meatballs.”  If you are not familiar with the story, basically in the town of Chewandswallow they get their meals from the sky.  They never  quite know what’s coming, but three times a day it rains things like juice… or meatballs.  Eventually this starts to become a problem for them, as the portions get larger and more unpredictable.  It is a cute story, worth a read if you have a little one.  But nothing I want to model my LIFE after!

This was the long awaited appointment for my 8 year old.  The one who has been showing all the signs of precocious puberty.  She has grown 5 inches in the last several months, lost almost all her baby teeth, grown 2 shoe sizes and now at 8 yrs, 9  months, stands 4 foot 9.  This is the appointment where we were going to get the results from the testing, and she was supposed to tell me that the blood in fact confirmed the early start of puberty.  Then we would go home, and start having chats, and we would make it through.

Except, as I have said before, things don’t often go according to plan.  So, regarding the extensive lab work up, she said, “Your daughter is NOT in puberty.  All the hormones that tell the brain to trigger development are sleeping.”

Question dog Excuse me?

How then do you explain the breasts that are developing, the palpable painful lump, and this giant growth spurt that you called “typical of puberty?” AND What about the breast sonogram?

Well that is normal.  It says “Tanner Stage II development.”


But doesn’t that mean puberty?, I asked.

Well, yes.

But you said… (As I reach for a copy of the report)  Hey, it also says “area of palpable abnormality of clinical concern… compatible with Tanner Stage II development!”  So, should we be concerned? (Getting slightly more alarmed and annoyed)

No, she says.  Look here at the pelvic report.  It says the uterus is not in puberty, but the ovaries are enlarged, and consistent with early hormone stimulation.

Stimulation from what?  Because now I am confused.  Is this puberty or not?

So, I kid you not, she draws me a picture.  A crude picture of two breasts, a uterus and two ovaries.  She puts a small dot on one of the ovaries and Xs it off.  She says that at some point she “probably” had a cyst on her ovary that caused her body to think it was in puberty and it began developing.  But don’t worry, it stopped because the hormones in the brain are not awake.

WHAT? Has anyone told her body?

I don’t need to see you again, unless you have a problem…as she pushes me out the door.

What about the sonogram that suggests clinical follow up?

UM, HOUSTON…. we DO have a problem!

I swear I almost asked for my CoPay back on the way out.

Is there anyone who gets that Cowden’s Syndrome is a RARE disorder characterized by a mutation on the TUMOR SUPPRESSOR gene?  If the body and the labs don’t agree, I think we probably have to look further.  Just in case there is a tumor somewhere that didn’t “fall off.”

Everything about this, from the difficulty of scheduling it at a major NYC hospital, to the way the report was written in the double speak of maybe its normal, maybe not, to the contradictory interpretation by the doctor from what she sees on the body and the paper, makes no sense to me.

I have nothing against weather reporters.  But they are wrong a lot.  Their life is of guesses and predictions.    I guess I hoped for more from the doctor than Cloudy, With a Chance of… Puberty!

I will get my umbrella,  my Mommy mouth, and all my questions.  I will keep asking until we get some answers.  But really, why must it always be such a battle?

The phone call continued….

After I left off on the last post the “nice” man had the misfortune of coming back ont he line and reminding me AGAIN, that I had NO IDEA how difficult this was to work out.

I made him wait before he put me on hold again. “In the fall of last year my daughter and  I were both diagnosed with a rare genetic disorder that no one seems to have ever even heard of.  The few doctors who have, or who are willing to learn, have put us through every test imaginable.  In March I had a mastectomy to protect me from breast cancer.  I was pretty surprised to find I already had it.  Last Wednesday I had a complete hysterectomy.  I am 38.  I was told the risk of NOT having one was too great.  My 8 year old daughter has grown 7 cm in the last 5 months.  She has grown 2 shoe sizes.  She now stands 4 foot 9 and 73 pounds, and will not turn 9 until August.  Her endocrinologist, the local one – not the cancer specialist she sees for the thyroid – has tried to educate herself about this syndrome.  She examined my daughter and said it may be precoucious puberty, but it may be too early for that.  Sometimes a tumor can hide and mimic puberty.  I know a mom whose 8 year old has Cowden’s.  She is 22 now, but at 8 had ovarian cancer. They had told her it was precocious puberty.  We are at a doctor, for something, AT LEAST once a week, usually more.  So, if you think I am crying because I am weak.  Think again.  I am crying because I don’t want to yell at you.  I am crying because I am exhausted.  But, if you tell me one more time “I don’t understand” how difficult this is, I WILL explode.  You think it’s difficult to schedule.  TRY LIVING IT!  This is MY LIFE!”


Still Silence.

Hello? Are you still there?

The “nice man” on the other side of the phone says simply, “Wow. I had no idea.”

“I know.  But you do now.”

Yes.  And I am going to make this happen as painlessly as possible.  I will call you tonight. (HAHAHAHA I thought)

The phone rang at 5:30.  The breast sonogram will be today, right after the pelvic.  Someone from the breast imaging center will walk over to where we are to oversee.  The results will be available to my doctor by Tuesday.  It will be a long weekend, but we are used to that.

Maybe he is nice man after all.

“You are Special – You are 1 in 200,000”

My daughter gave me a button for Mother’s Day.  She made it in school.  It says “You are Special” on the front, and then on the back it says “You are 1 in 200,000.”  Decorated with the obligatory hearts, she had made her point. Even in school, creating this “fun” assignment – she remembers.  I can call it “unique,” “special,” and all sorts of motherly words.  But she knows what it means.  It means different.

She and I may be the same – in many ways, but not her friends.  She can not ask her friends if their breasts hurt as they begin to develop at 8… because in reality she is different in this too.  At 8 and a half she stands just shy of 4 foot 9.  She weighs 73 pounds and wears a woman’s size 5.5 shoe.  All sorts of wild things are happening to her body and I can only pray they are not related to the Cowden’s.

The endocrinologist called it precocious puberty, and was ready to write it off.  I asked if she should start to develop close to when I did.  She said girls tend to follow the mother.  I told her then this was about 2 and a half years too early.  She said it was ok.  Then I reminded her about the Cowden’s.  The tendency toward tumors.  Can you reassure me that it is just normal development causing the breast pain I asked?  “Well if she were any other child…” 

But that’s just the point.  She is not any other child.  She is 1 in 200,000.  With an early diagnosis that is both a blessing and a curse.  She will go for blood tests on Saturday.  If her blood shows that her hormones have begun puberty – then we should be ok.  If they don’t – then we have big problems.  A new internet friend whose daughter is now 22 was diagnosed with ovarian cancer at 8.  Mom refused to accept the answer of precocious puberty without substantiating lab work.  Good thing.  It saved her little girl’s life.  I have to wonder until the blood comes in, could there be a cancer lingering somewhere in her body like there was in this other girl, feeding the hormones – tricking the world?  The thought makes me physically ill.

So after the blood tests there will be a breast sonogram, and a pelvic sonogram so the ovaries can be looked at.  There will be a test to detect bone age.  Maybe I am pushing too hard.  Maybe I am pushing just hard enough.  I won’t know, really ever.  I just have to trust my instincts.

The irony is not lost on me – that on Wednesday I will go for a complete hysterectomy – to eliminate a suspicious polyp in my uterus and some ovarian cysts, and as soon as I get word on when I can drive – I will take my baby to check on all the things I will have already lost – Breasts, uterus, ovaries.

She asks a lot of questions, my very smart 8 year old.  She asks how long before she will have to have the surgeries I have had.  I want to say, maybe never.  But I know that’s probably not realistic.  So I keep reminding her that I am 30 years older than she… she has some time (I pray.)

Tomorrow I will go to work, and I will think about her all day.  She will go to school and pretend to be just like every other third grader, as she deals with more intese grown up worries than any child should have.  She doesn’t want to be different.  But she is.  And she’s mine.  And she may very well be the best kid in the world.

Happy Mother’s Day.