Rare Disease Day 2018

I took today off from work.

Sadly, it was not to enjoy the almost 60 degree February day.

Today was doctor day.

And as I traveled  two hours for the 17 mile trip into Manhattan this morning, I had plenty of time to think about World Rare Disease Day, tomorrow, February 28th.

Rare Disease Day 2018 will pass for us unlike the last few.  In recent years my family, spearheaded by my daughter, has held a sizable fundraiser to draw attention to Rare Disease Day.  Our goal was always to raise awareness and funds to support research and treatment of our Rare Disease through the PTEN Hamartoma Tumor Syndrome Foundation.  My girl needed some time off to address some things on her mind and heart.  I gave her that time.  She is still working hard, but she has already expressed an interest to join me in planning an event in October of 2018.  Stay tuned.

While I was driving, I thought a lot about RARE.  It has so many connotations.

Sometimes I think of snowflakes, and rainbows, and unicorns.  I think of pleasant, beautiful things.  Some of the buildings on the skyline look rare.  Rare can be a thing, a sight, an action or even a feeling.

Rare is defined by Dictionary.com as:

adjectiverarer, rarest.

1. coming or occurring far apart in time; unusual; uncommon:

a rare disease; His visits are rare occasions.

2. thinly distributed over an area; few and widely separated:

Lighthouses are rare on that part of the coast.

3. having the component parts not closely compacted together; not dense:

rare gases; light-headed from the rare mountain air.

4. unusually great:

a rare display of courage.

5. unusually excellent; admirable; fine:

She showed rare tact in inviting them.
Rare can mean remarkable, wonderful and exciting.  It can mean fascinating, and intriguing.
But life with a Rare Disease reminds you often, that RARE can have many other connotations.
A quick look at thesaurus.com generated these synonyms to RARE:

Synonyms for rare

adj exceptional, infrequent

Quite a list, right?  And, if you really look with an honest eye, not all of them have super positive connotations.

Strange, uncommon, unthinkable, unusual, deficient, flimsy, tenuous, (and no this isn’t a typo, but I had to look it up) unwonted…

These are not the words you’d use to describe a beautiful natural event, and probably not the words you’d pick for a dear friend.

Yet, these words also mean RARE.

I set out today to get screened by 3 of my many specialists.  The cancer risks with a PTEN mutation are almost astronomical.  It becomes a game of “when” not “if” in so many cases, and the vigilance required to seek out the cancers so they are detected early can be overwhelming.  Lifetime risks for breast (approximately 85% as compared to 7%), thyroid approximately 30% to .9%), uterine (approximately 28% as compared to 1.7%), kidney(approximately 24% as compared to 0.8%) and melanoma (approximately 6% as compared to 1.1%) eclipse the general population.  (These numbers were midline from a graph in this link) www.myriadpro.com/services/clinical-summaries/gene-pdf.php?gene=pten&allele…

The risk of recurrence is also great, and that of developing a second, primary site cancer is also noteworthy.  So, having had a double mastectomy with a great prognosis, does not eliminate the need for biannual screening.  I love my breast surgeon.  She is one of the best.   She and I are both always pleased when she can tell me everything is good.

But, I held onto her a little longer today.  I told her I was in the market for an internist.  I need someone to play “case manager.”  I need someone to be my doctor.  She paused and furrowed her brow a bit.

That isn’t an easy request, she told me.  I said I just need someone willing to learn a little, and consider that I don’t fit in a “box.”  I need someone who will partner with me.  She told me she’d led me know if she thought of anyone.

I’m not hopeful.

I waited down the hall for the hematologist/oncologist.  When she was an hour late, I walked the half mile (in jeans and compression stockings from Wednesday’s surgery) BACK to the main hospital to see my endocrine surgeon.

She may be the weakest link in my chain right now.  She scanned the remains of my “lumpy, bumpy” half thyroid that the surgeon 25 years ago thought would be an asset to me.  She scanned a very slowly growing lymph node in the area that went from .6mm to .8mm.  She told me to get some blood drawn and that all looked good.  I showed her a recent chem panel. She pointedly ignored every out of range number, and zeroed in on the calcium level.  “Good.”  And she handed me back the papers.  Then she ordered a short-sighted list of thyroid labs that I would never tolerate for my daughter.  I was out of her hair in 15 minutes.

I walked back to the cancer center thinking “rare” thoughts.

I waited again for the oncologist, who was as always pleasant and happy.  She examined my spleen, and what she could feel of the 4 hamartomas that live there.  She felt nothing out of the ordinary, and ordered my abdominal sonogram.

I showed her the same chem panel I showed the endocrinologist.  She agreed the irregular labs should be repeated, but did not feel concerned.  I asked her about an internist.

She froze.  She suggested a new genetics person that had recently come to the hospital.  I may go for a consult.

But, and internist?  I asked again.

Hesitation.  Almost painful look.  She explained that the internists have to move fast.  They don’t really have time to get to know a new condition.  She couldn’t be sure if she new any that would care properly for me.  She basically gave me 4 names, but told me I was best left to do it myself.

Even though my rational mind understands it to a degree, I felt like I’d been punched in the gut.  I have homeowners insurance, auto insurance, and life insurance, just in case.  I have a 401K and am part of a pension system.  I do my best to prepare.  And I was basically told, by a major NYC hospital, that I stood little chance of finding an internist who would take the time to manage my case.

That scares me.  I do it.  I always do it, and I will continue to do it.  However, I am managing health care for myself and my teen.  And it’s not just routine stuff.  Cancer is looming, lurking, and mocking us.  All I want is someone to check behind, proofread per se, and make sure I am checking all the right boxes.  I want someone who will know that a test result in us may not mean what it does in someone else.  I want someone who looks me in the eye and knows I am a human who plans to live a long time even though her body doesn’t play by the rules.  I want a name to put on the line every time someone asks me for my “primary care” doctor, and I want that doctor to at least glance at every pertinent paper sent to them about my health.

I got my blood drawn at the hospital lab.

It’ll be in the online system long before anyone ever discusses it with me.   I’ll scan it, and hope that there are no alarm bells to be sounded this time.

RARE isn’t just snowflakes and unicorns.

RARE is that kid, who everyone looks past.  The one without the cool clothes, or the right hair.  RARE is the one who no one wants at their lunch table, and the one who is conveniently forgotten on fun excursions.  Because, what it RARE can’t do what everyone else can?  And anyway,  truth be told, RARE has cancelled one too many times.  RARE doesn’t really fit in anywhere.  RARE is brushed aside, in hopes they won’t bother anyone, or maybe they it go away.  People are afraid of RARE.  They perceive it as fragile, needing too much effort, or too hard to understand.  Sometimes people even envy RARE, without thinking through the late nights, the terror, the medical strategies, the constant advocacy.  RARE wants to fit in, but it never will.

RARE is too much new, and too scary for a doctor to own more than one piece.

We are scared of things we don’t understand.

Right now, RARE is a bit of a loner.

We are all RARE in some way.

But, RARE as a lifestyle is not an easy road.  And it is not a choice.

The choice comes in what we make of it.

Rare Disease Day 2018 will be a little different this year for us, a little more quiet.  But, I hope there is no doubt, that we will come back.

RARE does not give up.  Ever.

#beatingcowdens

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?