AHCA, High Risk Pools, and My Child’s Future

I am angry.  I am hurt.  I am worried.

I have stayed out of politics through the entire tumultuous 2016.  I have serious issues with many politicians.  I am not here to talk about them directly.  I am here to talk about an issue that transcends political party affiliation.  I will not engage in a debate about Democrats or Republicans, or the should have/ would have/ could have game that people like to play with each other.

This is far  more serious, and more important than any of that.  This is about my daughter.  It is about her life.  Her future.  And, it is about the lives of millions of American citizens, myself included.

I will concede that there are problems with health care in America.  I will even agree that healthcare the way it exists today needs change.  However, when I look at a situation that needs change, I think it through carefully.  I work through every detail. I weigh out repercussions and ramifications.

The Bill that passed the House today, in my opinion was put together in an attempt to score a “win” for our President.

When millions lose. No one wins.  That’s not just the math teacher in me.  That’s real.

Three years ago I was in a car accident.  It was a terrible situation, and I was T-boned at an intersection.  I will contend to my dying day that the truck that barreled through me was speeding so fast it never should have made it to me before I cleared the intersection.  I had the stop. I stopped.  He never saw me and it took almost a block, in a school zone, for his truck to finally stop moving.  Because the stop sign was mine, I was assessed with most of the fault for the accident.  It made me furious.  I was told speeding could not be “proven” despite the absence of skid marks.  The other 6 accidents that happened at that intersection in the months preceding were not helpful either.  In the end, I was grateful for my life.  I walked away and took the penalty on my insurance.  I paid that accident penalty for three years.  And, while it did not make me happy, I did it.   The accident penalty was annoying, but affordable, less than $200 a year.

The car accident happened once.  It might happen again, but it will not happen regularly.  I am 25 years driving, with one accident and no moving violations.  I have proven I am not a reckless driver.   I have control over that.  Full control, and I take my driving very seriously.

I also take health very seriously.  Unfortunately, there are aspects of my health I do not have full control over.  My daughter and I have a rare genetic disorder called Cowden’s Syndrome.  She is 30 years my junior, and at 13 and 43 we have seen the inside of an operating room close to 45 times combined.  Cowden’s syndrome causes tumor growth.  It carries with it an astronomically high risk of many cancers, most notable breast, thyroid and uterus.  It carries also significantly elevated risks of kidney, colon, skin, and other cancers.  Many of our tumors are benign.  Some are not.  The only route we have to long term SURVIVAL is constant surveillance.

Many doctors recommend surgery to remove things that are high risk.  Thankfully, that suggestion proved life-saving for me in 2012 when a “prophylactic” bilateral mastectomy revealed stage 1 breast cancer.  I was fortunate.

Two months ago I had surgery to remove a benign tumor from my vocal cords.  It was impairing my ability to breathe and speak.

In 16 days my daughter will undergo the 18th surgery in her young life – the 7th on her right knee.  Cowden’s Syndrome carries a high correlation to vascular malformations like the Arteriovenous Malformation (AVM) that grew in that knee.  After 6 embolizations to curtail the blood flow, she now deals with the repercussions of having blood lingering in the knee.  There is wearing away of tissue causing the patella to shift.  There is extreme pain, not just in the knee, but all through her body.  Her right foot stopped growing years ago, but the left one kept at it.  Now a full size apart,  different in length and width, her 5’8″ frame feels the repercussions with every step.  She is regularly at the chiropractor in attempts to minimize pain medication and keep her in alignment.  Pain medication caused such GI distress in 2014 that she spent a week in the hospital.  Cellular changes in the esophagus are not good in anyone.  At 10, with a condition that causes tumor growth, it was certainly another wake up call.  We gladly purchase 2 entirely different shoes every time she needs a new pair.  We are grateful she walks.

That is just the tip of what this child has endured in under 14 years on this earth.  She has had her thyroid removed with 19 nodules and suspicion of malignancy at the age of 10.  We still work to balance levels synthetically.  She had had TWO D&C procedures to eradicate suspicious tissue in her uterus.  She has had a lipoma removed from her back and vascular malformations from each palm.  She has lost her gall bladder.  She fights, stands up.  Moves forward, and gets smacked in the face again.

Soon after our diagnoses in 2011, another mom told me Cowden’s Syndrome requires vigilance.  I got it.  I am on it.  All the time.  And with the GRACE of God alone, we are walking the path the best way we can.

We average between 6 and 10 appointments a month between us.  The copays and travel costs are often daunting.  But, we are fortunate.  We have two good jobs my husband and I tell ourselves.  We have good insurance.

We are careful with every morsel of food that enters her body.  We eat largely organic and non-GMO to let her body use all its energy to stay healthy instead of fighting contaminants.  Even at that she is acutely sensitive to almost all gluten, dairy and soy.

We treat as naturally as we can, often incurring bills, as these treatments are rarely covered.  Yet, still we prioritize health because we realize its value.  And we remember how fortunate we are.  We have good insurance.  We have two good jobs.

My daughter is awesome.  And, not just because she is my daughter.  She is a respectful, kind-hearted young lady.  She has the voice of an angel.  She acts in the plays at school.  She reads for fun.  She swims passionately.  She is an honor student.  She talks about her future, and what she will do with her life.  I have no doubt she has the capability to make a real difference in this world, regardless of her career path.  Today however, I am left to wonder.  Will any job ever be enough?

If the AHCA passes the Senate, we will likely be placed in an unregulated “high-risk pool.”  This is not like my car accident.  This is not a minor inconvenience.  This has the potential to decide the course she will have to take with her adult life, as her health issues will not go away.  We have this genetic mutation with all its risks and ramifications for life.  Lifetime caps, potentially re-instituted will likely be met in her 20s, if not before.

There is no way at all to prove where the mutation came from.  I’d ask you to indulge in a theory with me a moment.  My father, a Vietnam Veteran was heavily exposed to Agent Orange as a Marine in 1967-1968.  My mutation was traced to my father.  He never manifested with Cowden’s Syndrome, but somehow passed that mutation on to me.  Wouldn’t it be ironic, if that toxic exposure in the jungles of Vietnam, in an attempt to fight for his country, ultimately led to this condition in his daughter and granddaughter?  Dad died in 2013, pancreatic cancer that may or may not have been Agent Orange related.  I’m glad he is not here to see the reality that our government may be on the cusp of turning it’s back on his family.

I was raised a proud American.  In addition to my Dad, I have three Grandfathers who were World War II Veterans.  I value the principles this country was founded on.  I am grateful for the freedoms I have in this country.

I have not been raised to use the phrase, “that’s not fair,” but I will ask you to consider a few things.

Last night as I watched the news my head spun as I heard elected officials allege that people with pre-existing conditions have not led good lives.  I am not here to compare, but I will tell you our “pre-existing” condition has NOTHING to do with lifestyle choices.  And if you do not like the site this link came from – scroll to the video.  Hear it from his mouth.

http://www.politicususa.com/2017/05/01/gop-congressman-people-pre-existing-conditions-bad-people-pay.html

I can name dozens of people off the top of my head, as close as within my own family, that would be grossly negatively affected by the establishment of “high risk” pools.

Should a cancer survivor, an MS patient, a diabetic, a person with a brain tumor, a rare heart condition,  a genetic mutation, or countless other conditions be forced to make decision on the path their life should take because they are too expensive?  Are they less valuable?  Do they matter less?

Should we be asked to decide whether or not to keep critical screening appointments, or have access to necessary medication blocked by cost?

We have two good jobs, and this whole thing terrifies me.  But, I will not be controlled by that terror.

This post will reach my Senators today.  Social media can be used for good.   I have a voice.  I will not be quiet about this.

Tell your story.  And if you can’t find your own words, share mine.  Let our Senators know that we are real.  We are not numbers.  We are not a cost-cutting measure.  We have faces, and names.  We matter.  We all matter.

We are determined to remain

#beatingcowdens

We will not be silent!

Overlap and Regrowth – Living with Cowden’s

So, the night I was recovering from my breast surgery on August 19th, I haphazardly checked my Email.

There sat an Email from Meghan’s endocrinologist that shook me out of my anesthesia recovery pretty quickly.  There is no time “in between” because there is usually SOMETHING going on.  Overlap is a way of life.

Meghan had had lab work drawn the 3rd of August.  Routine thyroid labs, and some tests from the gyn worked in.  On the 18th the EMail from the gyn told me she was suspicious of a few lingering “issues” and we would address them at her late fall appointment.

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The endocrinologist’s EMail said he was concerned about the resurgence of her “thyroglobulin” levels.  He wanted to now treat her as a “high risk” thyroid cancer patient.

I almost dropped the phone, alone in my dark room.  The last paragraph said he’d be on vacation for two weeks, and we could talk when he returned.  I read.  And I reread.

thyroglobulin

Decoding step by step – “thyroglobulin” is created solely by thyroid tissue.  Someone with a complete thryoidectomy would have non-detectable levels about 3 or so months post operatively.  Only thyroid tissue generates thyroglobulin.  If some was left behind after her surgery a small number would have stabilized early.  But for it to be gone, and then show up…  This meant there had to be regrowth.  And yes, it happens.  Maybe to everyone, but definitely people with Cowden’s Syndrome.  We regrow lymphoid tissue.

superpower

It’s a superpower of sorts.  Except instead of being a really fun, save the world, or generate sunshine and happiness, superpower, it’s more of the – hey let’s add some more worry to your life superpower.

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While the pathology on the thyroidectomy was totally benign, the mind can play lots of tricks.  Lots of tricks.

I’m not slow.  I am pretty well read.  I’m equipped with the knowledge that having faith and worry are counterintuitive.  Except I’m honest.  And with matter of my girl, worry sometimes overwhelms.  I never claimed to be perfect.

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So I spent the last 6 or 7 weeks retreating.  I barely spoke of this fear, this nagging thought that not only could the thyroid be growing again, but what if… what if all those precancerous things that we took out with it were somehow festering.

I made it my job to access the lab work.  And it was a JOB.  You would have thought what I was asking for just to see a list of messed up thyroid numbers.  We live in a pretty crazy society.  But, finally, after 2 weeks of labor, and getting increasingly vocal, I received 4 copies.  All on different days.  All from different people.  But, I got to look at the numbers.

I am a numbers person, so I took some relief in the thyroglobulin being only 3.  Undetectable was better, but 3 was on the better end of things.  It was clearly well under that “10” I had found.  So I took to waiting and ticking away the days until the next blood test.  There was a thyroid dose change, and 6 weeks.

I broke my toe while recovering from the implant exchange, a few weeks after learning I was suffering not only from a single vocal cord lesion, but vocal atrophy secondary to premature aging, the latter which was likely due to the hysterectomy that became necessary after the breast cancer diagnosis in 2012.

And yes, I meant that to be a run-on.

It all kept me as occupied as I could while I hid in the start up chaos of September.  I hate September.  But, when you’re suffering personal angst and need cover under which to hide – it’s September for the win.  I poured myself into setting up 25 classes, and over 550 students, logistically, and academically.  It took some time.

And I kind of just ducked.  Phone calls, texts… I played along.

“High Risk” thyroid cancer patient… like a recurring nightmare.

One of the reasons I was afraid to talk was the fear that someone would talk to be about thryoid cancer being the “best” cancer.  Please, no one ever do that.  When it comes to my child, a survival rate in the 90%s doesn’t soothe me.  When it comes to my child, I, like every other parent want 100%.  Nothing less.

I was scared.

We got the labs drawn at the hospital on Weds. the 28th.

On the 30th I was exploding.  Every second seemed like an hour.  Every scenario was playing through my head.  So when I got the call that the test wouldn’t be ready till Monday I dissolved into a tiny puddle.

And then I did what every other mother does.  I put on my big girl pants and got through the weekend.

Then Monday there was a brief phone call.

The thyroglobulin has returned to undetectable.

WHAT?  How does that even happen?  I sent out a million questions rapid fire.  Most of them had no answer.

Crisis averted.  Prayers answered.

gratitude

I explained to Meghan why her Mom had been a bit extra on edge.  She’s really growing up because she was grateful to have not traveled that mental journey with me, and appreciated me letting her in when it mattered.

Next blood test November 11.  And we’re going with the theory that the thyroglobulin was a one time deal.  An error.  A miracle.  Whatever.  A win.

We’ve got 6 weeks.  Some Mommy doctors.  Some swim meets.  6 weeks.  Sometimes that feels short.  Right now it’s blissfully long.

On my knees in gratitude, we remain…

#beatingcowdens

thanks-beach

 

Type A, and Then Some…

Calm down.  Relax.  It’ll get done.  Take a breath.  Why do you get so worked up?

These words could be spoken in several alternate languages for all the good they do for me.  They make no sense.  I mean, on a cognitive level I understand the words.  And even the context.  But, they hold little practical application for my life.

I am Type A.  Yep.  For it’s highs and lows, positives and negatives, I am a Type A personality.  Although like everything in life, the transition between Type A and Type B is a spectrum, I’m still honest with myself.

16 Signs You’re a Little Type A

Go with the flow.

I have a dear friend who has promised to make a t-shirt that says,”I am Flo,” to guide me.  She has 4 boys.  (She used to be full on Type A.  Now she shoves that in a drawer for most of the year, but the chaos sometimes still makes her cringe.)

high-strung

I am high-strung.  I am focused.  I am task oriented.  I am all about getting it done and getting it done well.  I get pissed when other people fall behind on their jobs.  I want order, structure, and routine.  I make lists on top of my lists, while putting alerts in my phone to avoid missing anything.  I have a hard time forgiving myself when I do.

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I am a work in progress.

But to some extent, regardless of your personality type, I guess that’s true of all of us.

September is chaos.  True, unequivocable chaos.  Here, in this house.  Here, in my mind.  September is the toughest month of the year.

And apparently I’m not alone, because this article really cracked me up.  September Is The Worst

If I could jump from August to October, it would be smoother.  And I’m not a big fan of wishing my life away.  But, transitions are especially tough on the Type A among us.

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And, when you’re a teacher – well.  That’s just a whole other story.  But, for the sake of brevity simply organizing class lists for 25 classes and 500+ students while they are going through new admits, discharges, and interclass transfers is a feat not to be taken lightly.  With the knowledge that 9/11 took place just a few days into the school year, I am always filled with a super sense of urgency to try to know who I have, and what their needs are as quickly as I can.  Figuring out who has allergies, and who has an IEP is another struggle.  Establishing rituals and routines for the classroom of a Type A teacher in one period a week is a bit taxing.  Not as tough for the bigger kids, but those tiny kindergarten faces are still in shock.  There’s no way they even remember my name, let alone where they should sit in my room.  Substitute plans must be prepared, because emergencies don’t have the courtesy of always waiting till October.  Copies of the schedule, printed, Emailed, and hung everywhere.  Supplies, traffic patterns, expectations, all need establishing and reminding.  That’s after the room is set up, and the bulletin boards are complete, and evening back to school night is squeezed into the agenda.

The agenda that is busting at the seams.  Because, I know all you moms of multiple children may laugh at me, and whisper about how easy I have it, but that’s ok.  Setting up the school and after school schedule for the child(ren) is a full-time job on its own.  August looks so nice.  The calendar lulls you into a false sense of security, as one by one the activities start-up again.  And then all of a sudden you are trying to figure out when you will shower, or fill up the car with gas, or eat, or grocery shop.  Never mind hair cuts!  There’s the one time deals, like back to school night, and “returning parents swim meeting,”  Every minute of every day seems to hold something.  I know I have only one kid, but that doesn’t mean she can take herself to swim practice.  Or pick herself up.  Or that most of the time I can even leave her there, as lingering fears about her health are always present.  And on the days she stays late at school for Drama, that’s a little easier, except when it crashes into a meeting at school.  And there’s morning study, set up for the intense schedule for the 8th graders, as well as Friday night Youth Group for stress release.  I think there’s a few minutes on Wednesday between 3 and 4 for sunshine.  Oh, wait… groceries…

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And to the left of me sits the Open House Schedule for High School.  Still shaking my head as to how THAT happened, I am trying to figure out their days of the week.  Because, I think we can make the Staten Island Borough Fair AFTER the swim meet that morning in October.  There is the TACHS test, and the Specialized High School Test.  Although I’m not really sure when there would be time to prepare.  Unless, maybe there’s and app for that?

I haven’t even mentioned our health.  Isn’t that just funny?  It hasn’t rested one bit.  And the most ironic thing, is people don’t realize you shouldn’t mess with a chronically ill Type A.  Chances are good they like to excel at EVERYTHING.  And in my case, I am willing to throw it at them.  Hard.

Some time towards the end of August I had surgery to replace my implants.  Far earlier than the 10-15 year life expectancy they had been given, one had moved, and it was time.  That night as I lay recovering I picked up an Email from Meghan’s endocrinologist that we should raise her thyroid meds.  Her levels were off again.  Now raising the meds in and of itself every once in a while is not a huge deal I guess, but Meghan struggles with synthetic ANYTHING, and the fact that we were now 2.5 years post op from her thyroidectomy and she has had more dose changes than I have had in over 20 years can be unsettling.  More unsettling was when I read to the bottom of the letter that he would be on vacation for over 2 weeks.  So, here I was left to make a dose adjustment without clearing my list of “Type A mother of a chronically ill kid” questions, which, in case you wondered, are far more intense than the typical questions I ask.  I scraped together the new dose from the closet, because I think we have Synthroid in EVERY dose known to man, and started her on it the next morning.  My local pharmacy informed me that the insurance wouldn’t cover the new script even though it was a dose adjustment and we would have to mail order it.  But mail order takes 2 weeks.  And there was no telling whether she’d be on the dose for more than 6 weeks.  But, whatever.  I set my sights on getting a copy of the lab report to learn the magic thyroid numbers.

arm-wrestle

And then the real battle ensued.  I tried to get it from one doctor.  They couldn’t release it because they weren’t the “ordering” doctor, even though she had added labs to the order.  I called the office of the endocrinologist.  Twice that Monday.  And again on Tuesday.  I got a call back late Tuesday while I was on the phone complaining that I couldn’t see her labs through the “MyChart” system set up at the facility.  The ‘ office said they’d send them.  The MyChart people said they’d look into it.  I waited.

Exactly a week.  There were no labs in my mailbox.  I called the endocrinology office again.  I got someone who promised to send them and did.  I called the MyChart people again.  No answers, except that some one told me it was hospital policy not to allow parents access to records of their children ages 12-17.

REALLY???????????????????

Listen, while I may not like it, or even agree with it, I can almost understand that there are SOME situations where teens have the right to keep their records.  But, this, this is THYROID blood work.  She doesn’t want it.  TRUST ME.  She just wants me to give her what she needs to feel well.  That’s it.

I processed all I could about this at the same time that I got ANOTHER bill from this hospital.  The date of service looked familiar.  I keep copious records.  (Type A… :-)) And I was able to see that a bill for the DOCTOR, the PHYSICIAN Group, and the HOSPITAL FACILITY all billed, and were ALL paid to the tune of over $1000 for a 15 minute visit.  And NOW, they were asking me for 2 additional Co-Pays.  Notwithstanding the fact that we have 2 insurances, so our secondary picks up the co-pay at many of our visits.  I called the primary carrier.  They reversed the charges, but told me the billing practice was not illegal.  Ok, then its immoral.  And it preys on people who are sick, or who have sick kids.  The insurance company also told me it was ON ME to call them when this happens.  ONLY when I call them will they reverse the charges because as per my plan I am to pay one co-pay per visit.

bills-to-pay

Good, cause I needed something else to do.

By the first Friday in September I had had it.  I found the CEO and Head of Patient Relations.  I fired off a 14 page Email, 7 page letter, and 7 attachments about everything wrong at their facility.

I have since received 4 copies of the blood work by mail, and 2 phone calls asking it I needed it.  One mail even came second day express.  Of course it was addressed to my minor child, whose signature means nothing, and who is not legal to vote, or to drive, but who apparently in some alternate universe should be making health care decisions.

I received a letter from Patient Relations that they were reviewing my concerns.  I’m not holding my breath.

That same Friday I tripped and fell and did some number on the pinkie toe of my right foot.  A clear fracture, although there is some debate as to whether it is displaced, and it will warrant another opinion.  The 3 hours I spent visiting the last podiatrist was a waste of my time.  So, I am in a post op shoe for some infinite amount of time going forward.  Because there is little chance in heck the right foot is getting into a sneaker any time soon.  Good thing it’s the perfect month to “take it easy on the foot.”  (Insert sarcastic grin here.)

Last Saturday the vocal therapist told me that I have one irregular shaped nodule on my left vocal fold.  It still gets to be called “benign appearing.”  I was also told I have “significant vocal fold atrophy secondary to premature aging.”  Well, that sucks.  Because I thought atrophy took place when you didn’t use something.  And oh, I use my voice.  And the premature aging, well, that’s likely thanks to the 2012 hysterectomy that was a necessary preventative move.  It all comes back to Cowden’s somehow.

Over the weekend I noticed that the knots from the implant exchange were getting irritated.  This doctor like all the others had been warned, I don’t dissolve stitches.  But, as wonderful as he was, he also needed to be shown.  I clipped one of the knots myself and there was immediate relief.  Then I second guessed myself.  By Monday the site I hadn’t touched was red and warm, while the other was healed.  I took a photo and sent it to the PA.  Come in tomorrow she said.  So Tuesday afternoon, my surgical shoe and I trekked into Manhattan.  She pulled the stitches, read a low-grade fever, and marked the redness.  She scripted me with 5 days of antibiotics but told me to wait 12 hours.  Wednesday morning I sent her a photo.  “Looks better, right?”  I said.  “Start the antibiotics,” was the reply.  So, I did.

Friday, Meghan made it to morning swim practice.  5:15-6:30AM.  I dropped her off, and headed home to shower.  I met her with breakfast.  We stopped off to drop her bag, and were at her school by 7:22.  I picked her up at 2:20 and she made afternoon practice.  I was tired.  She made it to youth group too.  I was in bed by 10.

Friday I spoke to the endocrinologist – finally.  I really do like him, but I think we’ve established now that I can’t wait 4 weeks for communication.  I don’t think it will happen again.  We talked it through.  Wednesday the 28th we’ll head to the hospital lab to repeat.  We are going there because then there is no chance for anyone to blame a variation on a different lab.  But, that’s ok cause there is that free hour on Wednesday…  He will call me on the 30th with the results.  I believe him.

I also believe that when I take his call on the 30th I will have a tall glass of wine celebrating the END of September.

white_wine_glas

This morning Meghan woke up with a sore throat.  She had to skip practice.  That’s always a tough call for her, but the right one.  She’s beating Cowdens like a champ, but part of winning is knowing when to slow it down.

Slow it down.

Hmmm.

I am so wrapped up in the have-tos, and the just getting by, that so much life is just on hold.  We have to gather enough spoons to save for something fun.  Anything.  But there are no spares.  Especially not in September.  (If that last paragraph confuses you – you can Google The Spoon Theory)

spoon

Sometimes, when I have a minute, I  think about calling some of the friends I miss a lot.  But, I don’t.  They have crazy wild lives of their own.  My fears and anxieties and worries exist, and so do theirs.  But for some reason right now, they largely exist separately.  I miss them.  And I am forever grateful for Social Media and the few minutes I can take, at swim practice or the doctor to catch up, at least on the surface.

I am super-blessed with a husband who not only tolerates my Type A, but works with me.  He cleans, and cooks, and remembers to make me laugh.  A lot.  Often at myself.

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I am three years deep into nutritional cleansing that I have no doubt is keeping me fueled for this crazy life.  One day soon I intend to find a way to shout from the rooftops and share this secret arsenal of nutritious fuel with the world.  Because without it, I’m not sure exactly where this Type A, broken toe, infected boob, woman, who needs a tour guide microphone to teach her classes would be hiding.

Instead of hiding, we remain,

#beatingcowdens

forever!

c-12

 

Set Up Surgery on Safari – check

Last Tuesday, on Meghan’s 13th birthday, we woke early and headed to the airport for what has become an annual family vacation.  Disney World is a “happy place” for all of us.  Despite crowds, and heat, we seem to be able to locate so much magic there.  Plus, it’s not here.

I like it here.  In my house, with my family.  But being “here” in a broader sense means doctors and tests, and appointments and procedures.  And traffic, and waiting.  And bills, and phone calls, and all sorts of obligations that often keep me tied to my desk chair.

In Disney someone produces allergy safe meals for us.  In Disney there is no driving.  In Disney there are fireworks and parades and shows.  While we are in Disney Mom watches the dogs and the house.

Those 8 days designed as a respite.  A safety zone.  A doctor free area.  And we look forward to it every year.

This year was even more special because Meghan brought a friend.  She got to bring a kind, compassionate, witty young lady who had been by her side through some ups and downs the past year.  There is not a long list of people who Meghan trusts enough to take into confidence, and I can’t say that I blame her.  But, this young lady has similar loyalty standards, and held her composure as Meghan threw some tough stuff at her.  Meghan is forced to think about things and process things that are not even remotely acceptable to have to deal with at her age.  Most peers are overwhelmed.  Many shy away.  This young lady did not NEED Meghan as a friend, they CHOSE to be friends.  As different as they are, they compliment each other nicely.  So we set off on our adventure this year as a party of 4.  The Ortegas plus one!

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Once we found our groove, (adding a wheelchair takes finding a balance) we were off and running.  Great food, lots of laughs, and the highs and lows you’d expect from two spunky teenagers.

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I was distracted Friday when my cell phone rang, while we were on the Safari at Animal Kingdom.  I should have seen the NY number and known what was coming.  But, I answered quickly.

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It was my plastic surgeon’s office.  The one who had told me they could fix my implant some time in the spring… well, they were offering me a spot on August 19th.

If you don’t have the back story on this I’ll give you the quick version.  After a double mastectomy in March of 2012, I opted for immediate reconstruction.  I was very pleased.  Then in November of 2012 I was in quite a car accident.  I took a good hit to my totaled Hyundai.  The implants were intact, but likely never quite the same.  By the summer of 2015 I had been experiencing some pain and discomfort on the right.  I went back to my plastic surgeon in November of 2015.  She told me the right implant had fallen a bit, and I should have (non-emergency) surgery to pull it back up.  Except, she was no longer accepting my health insurance.  The year that was had Meghan in the OR I believe 5 times.  I struggled to get the courage to call the new plastic surgeon.  I was annoyed to have to do all this again so soon.  The initial estimate on the implants was 15 years.  This was under 5.  I finally got an appointment with the new plastic surgeon a full year later, in July of 2016.  He concurred that a surgical procedure to “tighten things up” was a good idea, and that I could schedule at my convenience.  So, I tried to get it scheduled for the summer.  Then I tried for October when we have a few days off.  Then I tried for December… and before I knew it I was looking at spring break, almost another year of what had transformed from pain, to just an odd sensation, all the time.

I listened as I was told I could have the date one week away.  I looked around at the animals on the African Safari.  I tried to keep my conversation low enough to make sure the girls, and no one else on the vehicle was following along.  I promised to return the call in an hour.

I hung up and managed to share the story with my husband.  Then I called my Mom.  Then I called the plastic surgeon back.  “Let’s do it.”

So the following Monday was spent ducking away to make phone calls to set up pre-operative appointments.  Because the plane was due to land at midnight Tuesday.  I needed blood drawn, and a physical Wednesday in order to hold the spot.

Tuesday we left Disney.  The step count on my FitBit was over 142,000  I had covered over 62 foot miles.  I was tired, but happy.

We did have a great week, and while I was bothered on some level that the surgical planning creeped in, I am skilled at managing many things from my cell phone.  And, the thought of getting all that straightened out months ahead of schedule was exciting.

Tuesday it rained.  In NY and in Florida.  There was lightning.  There were delays.  Lots of them.  Our plane landed well after 1 am.  I hit my bed hard at 3 and was on the bus to NYC for the lab work by 9.  After battling NYC traffic there and back, I went for the physical.  Passed, and papers faxed to the plastic surgeon by 4:00.  Success.

nyc bus

Life moves quickly.  We have to keep up.

The call came Thursday to be at the hospital at 6 AM Friday.  While I am not a morning person, only the surgically experienced would realize that is like hitting the jackpot.  It means you’ve got first case.  And that is a giant win.

hospital

 

There was little time to share the plan with anyone.

Yesterday morning I had bilateral implant repair between 7:30 and 10 AM.  I slept till 1, had some ginger ale and crackers and was home by 2:45.

Last night I laid in my bed catching up on Email and I caught one from Meghan’s endocrinologist.  The thyroid numbers have gone a bit off again.  He wants to play around before repeating labs in 6 weeks.

Medication readjusted.  Again.  Illogical.  Like so many other things.

Apparently #beatingcowdens involves scheduling surgery on an African Safari and readjusting medications hours post-operatively.

We’ve got this.

Thank goodness for our time in the “Happiest Place on Earth.”

 

 

“Hey, I follow you on Facebook…”

There we were in the back of DSW looking for a pair (or two for accuracy sake) to fit the feet of my girl for “Aunt Em” in her school’s performance of “The Wizard of Oz” next week, and a woman approached us.  She was happy, and friendly, and it seemed excited to see us.  Meghan and I had never seen her before in our lives.  But, she seemed to know an awful lot about us.

dorothy and aunt em

“Hey, I follow you on Facebook!.  I am amazed by your story.  And you guys stay so positive all the time.  Such an inspiration!”

I’m not sure either of us knew quite what to do, so we smiled politely and said our thank yous.

Then we looked at each other.

Did someone just recognize us?  Like we matter?  A complete stranger?  Wild.

There are times I write, or we write, and I feel it is simply a therapeutic output into cyberspace.  Yet, we receive messages, some from all over the world, confirming our story is getting out there.  We know all about digital footprints.  But Wednesday, well we finally saw our own – face to face.  In the shoe store.

Why do we tell our story?  Why do we keep at it through the mundane and the heart-stopping?  Meghan says, because the truth needs to be there.  When someone looks, they need to find real people like us, getting by, every day.

owning-our-story-web

I guess she’s right.  She often is, although I don’t make a practice of TELLING her that…

Spring Break 2016

It sounds almost funny to say it.  But, we are ALMOST used to it. See, there ARE no breaks.  There just aren’t.

Doctors appointments take time.  On average 4 hours roundtrip to Manhattan considering wait time and traffic.  I have work.  Meghan has school.  We miss more than we should of each.  Routine appointments are for days off.  That’s how it has to be.  But, then you add in a flu-like virus from who knows where, and you insert about 3 extra visits to the pediatrician, on top of a cardiologist, just to be safe, well by the time you get to the routine sono of the thyroid bed (where the gland was removed to check for regrowth,) and the dermatologist, and the endocrinologist, and the traffic, and the very fair school project…  There is just about enough time to switch a closet or two, wash a few windows, and about HALF the curtains you intended to, while sneaking in one LONG trip to the grocery store.

We spent the early part of the break watching a few movies on Amazon Prime.  This is a real treat for Meghan because I am ROTTEN at sitting still.

Ferris Bueller

And somewhere in between “Ferris Beuller” and “Annie” we grabbed a few lessons.

Annie

From “It’s a Hard Knock Life…”

“Don’t if feel like the wind is always howling?
Don’t it seem like there’s never any light?
Once a day, don’t you wanna throw the towel in?
It’s easier than puttin’ up a fight..”

Sometimes when I come into the house I love, instead of feeling calm and relaxed, my heart starts to race.  I think of the papers, and the phone calls, and the bills, and the scheduling, and the terror of missing something, and the compulsion to keep up with the basics, and I just want to sit on the floor and cry.  Sometimes I even do.  Sometimes I even get grumpy for a while.  Then, usually when no one is watching I’ll grab a dog and rub a belly, or do something silly to try to shake off the enormity of it all.

I remind myself it’s about every little piece.  It’s about one day at a time.  It’s about counting the days with no headache instead of always the days with knee and hip pain.  It’s about looking at the pile, neatening it up.  Making a list, and leaving it there to go for a walk.  Some days I get it better than others, but I’m a work in progress.

Yesterday, we did well with the pediatrician.  He drew some more labs, but feels she’ll be well enough for full activity Monday.  The dermatologist, routine Cowden’s Screen, was without incident too.

Today, the new endocrinologist (only our second visit) proved himself to be a wonderful addition to the team I am so desperately trying to form for Meghan.  I DREAM of the day I get them all together, assign a captain and let THEM help me.  But, for now, he is bright, inquisitive, and willing to toss out the “rules” when he treats Meghan.  So the hormone that we had to ditch, the medicine that was out to save the uterus that now has to save itself, well that medicine can mess with T3 Uptake, one of the thyroid hormones.  Meghan has a hard time converting T4 (Synthroid) into T3, so we actually supplement with T3.  Most doctors have no idea.  He said lets raise it and check her in 2 weeks.  Works for me.  Feeling like a validated human is priceless because this child is so exhausted all the time, it’s just not ok.

He scanned that thyroid sonogram report, reassured us about a renegade “reactive node,” and moved it to the “watch list.”

The next few weeks are set to be a whirlwind.  I can only pray her body is up for the task.  Lots of good, and happy things on the agenda.

It’s a busy life.  I wanted to see some people this week.  I wanted to reconnect with at least one friend.  I know they are out there.  And yet again, the week didn’t allow me any advance planning.  Can’t expect people to wait around for me.  So my music and my computer keep me company, with the laundry and the dishwasher, while Felix and Meghan celebrate at a Sweet 16.  It’s good for them to get out together sometimes too.

#Beatingcowdens

requires focus, stamina, and its own brand of mental toughness.

We’ve got this.

 

#BeatingCowdens #NoMatterWhat

The week was tough.  The pain was real.  The reflux was persistent.  The fatigue, bone crushing.  There were three missed practices and a missed school day, simply because she couldn’t.  That NEVER happens.

By Thursday, when she had clocked too many hours of sleep for me to count, I started trying to pull some things together.  My “Mommy Senses” were tingling.  Things were going downhill fast.

I checked through the files.  When was that last brain MRI?  She should probably have another because the headaches won’t quit.  And, if I want to blame the hormones, which my instincts do, we have to rule out any other possibility.  But, we fired the neurologist.  UGH.  How I dread training new doctors almost as much as I despise working with rotten ones.  On the hunt…

And the GI.  She is a wonderful woman, but she is on a personal leave.  We can’t keep at this level of reflux meds.  It will start to hurt her bones.  But, I can’t imagine letting her try a day without some attempt to shield her stomach from all this crap.  I hated all the GIs.  As Pop would have said, “I’m difficult to work with.”  And, THAT was on a GOOD day,  When someone isn’t doing right by my girl, I’m IMPOSSIBLE.  Hunting again…

New doctors.  Tough to find.  Take up hunks of time while we get used to each other… and in the mean time, we wait.

But waiting seems like such a bad idea.

Saturday she dragged herself out of bed for the CYO meet at CSI.  She swam three events, beautifully.  But, before the 50 fly, her favorite, she was struggling.  She motioned to her head.  I made a mental note.  She swam like an all-star, turning in her best time again.  And then it all went quickly.

She was on the deck obviously struggling to breathe.  I grabbed her stuff, and had Felix get the car.  We switched seats at the house and I drove her to Urgi Care.  By now she was feeling better, but still weak, and tired, and full of reflux.  At least she could breathe.

Urgi Care triaged and told me to get her to the Emergency Room.  90 minutes past the swim meet her heart rate was still at 120+.

 So in went the IV.  Out came just about enough blood, but not exactly enough to cover the blood tests the pediatrician wanted.  Then the order for the abdominal CT, and the contrast dye to be swallowed.  Two hour wait in a tiny crazy room.  Heart monitor, IV fluids.  No dehydration.  No obvious signs of infection.  And a negative CT scan.

 There was a ticket to the Peds. ICU for monitoring overnight.

 Some dinner from Daddy at 10 pm.  ICU monitors everywhere.  Medical history to the resident.  I come with three typed pages of summary in tow.  Medication and history in the computer.  Heart rate coming down.  No real ideas.

The night passed and I spent more time than I should have ALONE in the PICU.  No nurse.  Nobody.  Made me wonder why we were there.

I watched the heart monitor like it was my JOB.  I took notes.  I watched the 120+ heart rate hit the mid 40s.  I watched the blood pressure dip to 92/37… I walked and watched and walked some more.

 In the morning when they showed up again, they told me a heart rate in the 40s was ok for an athlete.  Not to worry.  Then I asked how 120 could be “mildly tachycardic” if 40 was “normal.”  Can’t have it both ways.

The evening resident blew the meds.  Even with the cheat sheet.  The overnight nurse dosed her with illogical concoction of thyroid meds, despite my cheat sheet.  The day resident paid more attention.  Definitely more than the dietician who served her a tray with milk AND soy.

There was a negative chest x-ray as they grasped at straws.

The thyroid numbers were all in range.

What would you do?   I challenged the resident.  What organ do you pick to save?  What medication do you give up?  I didn’t expect any answers, but I wanted to get in her head.  Just a little.

 Time to discharge.

With a list of new doctors to find on my own.  And absolutely NO answers.  So the next time she goes to swim, or play, or do anything, I have no way of guessing if this will be our new normal.  Can’t keep a 12-year-old in a bubble.

Onward.  Focused.

#Beatingcowdens #nomatterwhat

 

This is Our Reality

Alone, in a crowded room.

alone in a crowded room

As I look around frantically trying to figure out exactly where, or how I fit, with anyone, my mind wanders.  I can’t seem to make conversation, or to pass the time socially as easily as others.  I watch.  I retreat as soon as I can.  I can’t quiet my head.  And, knowing the whole line of thinking that occupies my mind some days makes everyone uncomfortable, I step back into myself to cycle through reality.

occupied mind

“Those hormones?  Are they causing her headaches?  Or is it something more sinister?  How would I even know?  Do we need to use another MRI?  What if it is the hormones?  What choice do we have?  The doctor said she has to stay on them to stop the development of those “irregular cells” in the uterus they found in December.  They’ve already begun to schedule another D & C for July.  “You have to make sure…”  The uterus is a prime site for malignancy in Cowden’s Syndrome.  I got to keep mine until Meghan was 8.  Will she get to keep hers?  Will she have the chance to make the choice whether she wants to bear her own children?  And, even if we save the uterus and she wants to, will it be viable after 15, 18, 20 years of hormone treatment?  And at what cost to the rest of her body?  What about the breast cancer threat that looms large to a young woman whose Cowden’s Syndrome alone puts her at an 85% lifetime risk.  That coupled with a mother and grandmother who have had breast cancer… sigh…why is it even a topic of conversation when she’s 12?  It seems so unjust.  This issue shouldn’t have to be addressed now, well not ever really, but especially not now.  And when she has the headaches I have to give her something.  What about the headache medicine?  What about that esophagus we are trying to heal?

 

Is it those medicines that caused the horrendous reflux after Easter, or was it her MINOR indulgence into a few SAFE sweets?  Why should a slight indulgence cause such discomfort and vomiting?  Why does she have to be so careful all the time about everything?  No wonder she is so serious.  And what if it is the headache medicine?  What am I supposed to do to help her?  Tell her she has to deal with it?  I can’t imagine “toughing out” a blinding headache.  

 

The knee.  Oh the knee.  She tries not to complain about it, but I see when she struggles.  The AVM is finally stable, but the leg takes a lot of work to develop.  She works hard on it too.  But, the stamina isn’t there.  Hours in a pool yes, on land, no way.  Standing too long, walking the mall, or for a short walk, things we take for granted cause such pain.  And pain causes fatigue.  And on the occasions she relents and allows the wheelchair into use, she struggles.  Not for the need to use it temporarily, but for fear of insulting those who have to use it all the time.  She is proud.  She is frequently humbled.  She is conflicted.

 

And who wouldn’t be?  16 surgeries before the 13th birthday.  The need to be tough all the time, while you feel weak.  The desire to be stronger.  Having to fight, hard, for physical accomplishments.  Having to accept the ones that will never be.  Never giving up.  Pushing to be better.  To make the world better.  

 

She’s not perfect.  Never has been.  And oh, there are DAYS…  But she is good, in her heart.  She means well.  She has no spite or malice, and I can pray it remains that way.  I can pray that the children who don’t get it, one day come to understand her, just a little better.  That one day they can accept her,  for the good in her.

 

I scheduled 3 doctors appointments for the next three weeks.  Dermatology, orthopedics, and endocrinology.  The first is a screening.  Cowden’s Syndrome, melanoma risks.  Her father’s increased risk of melanoma on another unrelated genetic disorder.  Her grandmother’s melanoma this summer.  Every 6 months they told me.  Bring her every six months.  The others will work on long-term plans.  Spring break.  Every holiday, every vacation.  Every day off.  Doctors.  Not the mall, or a friend’s house.  Doctors.  For what?  And I’ve toned down the list quite a bit.

 

There are two bills of my desk.  One for her and one for me.  Both a battle.   Always a battle.  If it’s not the reality, or the appointments, it’s the bills.  And we are so fortunate to have insurance.  But, the hours.  Oh my goodness, the hours…”

 

I try to shake it off.  To stay focused on the good.  On the positive.  On the blessings, and they do abound.  But, so often it’s just me, and my head.  Working to get out of my own way.

I miss my Pop.  I miss my Grandma even though she’s still here.  I miss their goodness.  I miss my Dad.  I miss his listening ears.

I quiet the voices a little and try to follow the conversation around me.  I smile politely and nod.  I stay quiet.  “It’s good.”  “We’re good.”  That’s about all they can handle anyway.  Even the ones who genuinely do care.  Why drag someone to a place where there is absolutely nothing they can do or say?

cheshire cat

This is our reality.  This is Cowden’s Syndrome.  This is every day.  As long as we have breath, and strength, and stamina to shake off the pain, place the smile firmly where it goes and press on, we will.

Because the real reality is that every person in the room may have a similar string of thoughts in their head.  The reality remains that EVERYONE HAS SOMETHING…

been through something

I booked dinners for our Disney trip today.  I like to plan ahead.  Plus, Disney gives me a little extra strength, so that we can remain always,

#BEATINGCOWDENS!

 

Meghan’s Rare Disease Day Video and Speech 2016

This is the text of the speech Meghan delivered at this year’s “Jean’s for Rare Genes 2” Fundraiser.  Regardless of the monetary totals, which will come in the next days to weeks, I can assure you it was a success.

I want to start by thanking you for attending this fundraiser here today.  This is the second “Jeans for Rare Genes, a tradition I hope continues to grow each year.

I knew nothing at all about Rare Diseases until the fall of 2011.  I was in 3rd grade.  I went to a geneticist because I was having all sorts of medical trouble.  He diagnosed me with Cowden’s Syndrome.  A few weeks later he diagnosed my mom with the same thing.

Cowden’s Syndrome is a mutation (a break or a mistake) on the PTEN gene which is a gene that is supposed to keep the body from making tumors.  Basically, when you have Cowden’s Syndrome, which is pretty rare (only 1 in 200,000 people) your body makes tumors.  Sometimes they are benign, and sometimes they are cancer.  It also causes my body to make vascular malformations, like the one in my right knee, that has caused me 6 surgeries all by itself.  That is why with Cowden’s Syndrome we have to be watched all the time.  There are so many doctors, so many things that need to be checked, and scanned and looked at, it can be really overwhelming.

You can’t catch Cowden’s Syndrome, it has to be inherited, like I got it from my Mom.  You also can’t get rid of it.  Once you have it, the only thing you can do is get checked, a lot.

I have had 16 surgeries so far, and I only turned 12 in August.  That doesn’t even count for the doctor’s appointments, Emergency Room visits, scans, and never-ending blood tests.

When I first learned I had Cowden’s Syndrome, I went to a website called the Global Genes Project to learn of facts about rare diseases.  I learned all sorts of interesting, and sometimes upsetting facts.

  • There are approximately7,000 different types of rare diseases and disorders, with more being discovered each day
  • 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the S. population
  • 80% of rare diseases are genetic in origin
  • Approximately 50% of the people affected by rare diseases are children
  • 30% of children with rare disease will not live to see their 5th birthday
  • 95% of rare diseases have not one single FDA approved drug treatment
  • Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease

I started out feeling like I didn’t fit in anywhere.  I couldn’t understand why all these diseases existed and no one seemed to know or care.  I found the “Global Genes Project” motto, “Hope it’s in our Genes” to be a comforting play on words.  I identified myself with the denim ribbon, a powerful symbol of Rare Genetic Disorders.  My Mom’s friend made me a denim ribbon necklace, and I felt like I had an identity piece, something that represented me.

At first I organized an assembly at my school, and in 4th grade we gave out denim ribbons to raise awareness.  In 5th grade we had a fundraiser. We sold some T-shirts, and had a small event at the school.  The money went to the Global Genes Project.

Last year, a charity was created called the PTEN Foundation.  It is the first charity that looks to help people with our specific disease.  They want to create a patient database, so people with our Syndrome can be studied and learned about.  Then, maybe there will be a way to help us. 

As happy as I was about the PTEN Foundation, by this time, I had learned about a lot of other Rare Diseases, and kids, who didn’t have a chance to live and do as much as I can.  I promised myself I would always remember those kids when I did any fundraisers.

Last February, “Jeans for Rare Genes” happened at the Hilton Garden Inn.  I wasn’t sure I could pull off anything that big, but with a vote of confidence from Borough President Oddo, and my Mom supporting my vision, it happened.  150 people showed up, and we raised over $12,000.  True to my word, half of the money went to the Global Genes Project, and the other half went to the PTEN Foundation.

This year, I invited Bob Jackson, my favorite entertainer from Walt Disney World, to come and play piano at “Jeans for Rare Genes 2.”  He is here with us today and I am so excited!  We also have “Charlie Balloons,” back to help us again, and lots of great raffles from generous donors.  This year, I think and hope we can raise a lot of money to send to the PTEN Foundation and the Global Genes Project. 

One of the hardest parts of having a Rare Disease is one I don’t like to talk about too much.  Middle school is tough enough, but when you spend more time at the doctor than at social gatherings, it gets tougher to fit in.  I am glad that with Cowden’s Syndrome I don’t “look” sick, except it makes it even harder for people to understand why my life is so different.

I’ve gained an appreciation for the reality that “everyone has something,” and I work hard at not judging others, because everyone is fighting their own battle.  I want to make more people aware that this is the case, and that is why raising awareness for Rare Diseases is so important to me.

The pressure of life, the surgeries, the hospitals, the worrying, the waiting, and the wondering, has done a lot to make me who I am.  I don’t wish for anyone else to really understand this pressure, but I sometimes wish more people would understand me.

I have met a handful of people along the way, some in the most unlikely places.  These people have provided me support through the pressure, and I am forever grateful.

I know I still have a lot of time to grow into the person I am supposed to be.  I love swimming, and drama and singing.  I do well in school, and I love being with my friends.  I love helping others.  I will continue to search out my “Corner of the Sky.”

As you watch the video I have prepared for you, you will see that despite the pressure of life, I will not ever be defined by my disease.  I am determined to focus on a brighter future, and to channel my energy into making a real difference in this world.

I look forward to seeing what the future hold, and how the next chapter in my life turns out.  I hope to see you at our event next year!

When you’re through reading take the time to appreciate her video, created by herself!

It’s Complicated…

complicated

I just ended a 30 minute conversation with Meghan’s adolescent gynecologist.  The fact that she spends 30 minutes on the phone with me speaks to a rare spark of passion for her field, and a genuine desire to help.  These are things we clutch because they are uncommon, and, when they come at all, they are fleeting.

The long and the short of the pathology, which arrived earlier than planned, was that there was no malignant finding.  Yes, you read that right.  No malignant finding. (Insert Happy Dance here…)

happy dance

And the gratitude for the prayers and positive energy was lifted up.  We truly are always aware of the potential alternatives, regardless of our situation.

But, as is always the case with Meghan, I encourage you to keep reading.  Nothing is ever really simple.  And, as the years go by it seems to get progressively more complicated.

While in fact there was no malignant finding, there was not a purely benign pathology either.  She had “the best type of hyperplasia you’d want to find.”

Except when pressed, the gynecologist admitted that there is no type of hyperplasia that you’d ever want to find in a 12-year-old, and that there should be nothing but normal cells there.

Hmmm.  Hyperplasia. Medicine.net says…. “Hyperplasia: An increase in the number of normal cells in a tissue or an organ. Hyperplasia can represent a precancerous condition.”  And various other sites say the same.  The doctor agreed.  The pathology finding was not “normal,” and therefore it must be treated.

See, hyperplasia, specifically endometrial hyperplasia might be detected in women 3-4 times her age.  It might even be expected in women 5 or 6 times her age.  But, her age is 12.  And none of this is ok.

think_outside_the_box

I pushed her about thinking outside the box, and she reminded me that the entire biopsy WAS thinking outside the box.  Any other teen would have been treated for months or more on hormones.  That could have had epic consequences.

In the short-haul, she gets to heal from an invasive procedure.  In the next week more hormones will be introduced to her body in an attempt to keep the hyperplasia at bay, and most importantly to keep it from progressing.  But, hormones, although commonly used to regulate bleeding, require special care in the case of a young lady with no thyroid, a difficult time balancing the endocrine hormones, an extremely elevated risk of uterine and breast cancer, thanks to the PTEN mutation, AND TWO first degree relatives, with estrogen fed breast cancer.

For now, she keeps her uterus.  And we hold our breath.  We hope that over the next few months things will start to calm down.  And some time in the next 6 months the invasive biopsy will be repeated over again to make sure the hyperplasia is gone or behaving itself.

repetition

To Meghan this mimics the process that took place at the beginning of the end of thyroid removal.  We had about 3 years of progressive biopsies before they decided to pull the plug and take it out.  She knows, and agrees, that we will all fight longer and harder for her uterus.  For so many reasons.  But the similarities can’t be overlooked.  Nor can the distressing notion that another body part is misbehaving.

When we were diagnosed in 2011 we were told there would be screenings and monitoring.  We even figured on a few doctors every 6 months.  At one point we dreamed of getting them all into a week in August and a week in February and living a somewhat normal life the rest of the year.

Instead, in Meghan’s life alone there have been 5 surgical procedures in the last 13 months.  Digest that for a minute, because it’s hard to keep track of.

Currently we are monitoring her thyroid levels through blood every 6-8 weeks, visits twice a year, and annual ultrasound to monitor potential regrowth.

We are monitoring her knee where the AVM resides, through twice a year visits to the interventional radiologist and twice a year visits to the orthopedist.  There is an annual MRI.  And two of those procedures in the last 13 months have been for the knee.  Add in surgical follow-up visits, and Physical Therapy.

The dermatologist needs to see her twice a year.  Not because anything has been found on her, but because in addition to me passing the PTEN gene to her, apparently her father and I BOTH have Dysplastic Nevus, a “precancerous” condition where moles have a tendency to become malignant.  Couple that with the almost 10 % melanoma risk Cowden’s patients carry, and in addition to the sunscreen, there are necessary scannings.

There is the gastroenterologist, who became necessary almost two years ago when the use of Celebrex to control the knee AVM started to rot out the GI tract.

And the ENT who was added so he could monitor the larynx to avoid unnecessary endoscopy but gauge improvement from the scary state she was in in May of 2014.

Oh, and the doctor who prescribes the digestive enzymes because they work, and no one else will.

And the pediatrician who doesn’t like to go more than 3 weeks without examining Meghan, who also keeps her on Acyclovir, prophylactically for chronic HSV that recurs on her face.

And, don’t forget the hand surgeon, who we love, (who doesn’t have a hand surgeon on the team?)  who has twice in 3 years removed vascular lesions, one from each palm.  And those surgical follow ups.

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Nothing is neat and clean.  Nothing is contained.  Nothing ever fit into those 2 weeks we once dreamed about.  This disease has projectile vomited all over our lives.  And it’s everywhere.  And it’s messy and gross, and we just want to take a hot shower and move on.

Because we haven’t even discussed fitting in MY appointments…

And a full-time job….

And an honor student….

Who is a swimmer….

And a theater buff….

And a community activist in the making…

All after work, and school, into the city, in traffic, and expensive parking lots, in hopes of getting back local in time for practice.

Last week I told Meghan over the Christmas Vacation we would need to see her gyn, and do her knee MRI, and my abdominal sonogram.  She was less than impressed.  The general sentiment is that we don’t get vacations, we get days off from school to go to the doctor.  I can’t argue.

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The physical, mental, and social ramifications of this under-funded, “orphan disease” are having a profound effect on the life of my girl, and her mom and dad too.

That is one of the main reasons we work so hard to raise funds and awareness.  Maybe one day…

So tonight, we are grateful.  We are on our knees in gratitude, for the prayers that were lifted on her behalf.  We are thrilled to hear the words, “It’s not malignant,” but we are painfully aware the journey of monitoring another body part has just begun.

So if we are not shouting from the rooftops, please don’t think us ungrateful.  We are not.  We are relieved.  We took our first deep breath in weeks.  But, we did ask Santa for some new body armor, polished and ready for the new challenges PTEN Hamartoma Tumor Syndrome, (Cowden’s Syndrome) are actively placing in our way.

We ask that you continue your prayers, and continue to educate yourself about genetic cancers, orphan diseases and people like us, left to be our own advocates, in a world that isn’t overly concerned with how our story shakes out.

While we are in transit, to and from a lot of places we’d rather not be, we talk a lot.  Most of it is complicated.  But some of it, is quite simply about how a 12-year-old with a vision is going to change the world.

life goes on

 

Come join us on FEBRUARY 21st as we try to draw attention to Rare and Genetic Diseases! Beating Cowden’s Fundraiser LINK – PLEASE HELP US SPREAD THE WORD!

Time with "BOB" our favorite entertainer...

Time with “BOB” our favorite entertainer…

The Story of the Girl and Her Mom

once upon a time

So, four years ago they diagnosed this girl with a rare genetic disorder called “Cowden’s Syndrome.”  Soon after they diagnosed her, they diagnosed her mom too.

And the mom and the girl read everything they could find, which really wasn’t very much.

And they asked a lot of questions.  Some from the doctors, but mostly from people on the internet who had this Rare Disease too.

They learned a lot.  They also learned there was a lot to learn.

They learned about cancer risks, and how very high they are.

They learned about screening tests.

They met lots of new doctors.  Some were super awesome, and others were super awful.

They fired the awful ones, and kept the awesome ones.

The doctors sent them for tests, and screenings, and blood draws, and all sorts of poking and prodding.

At the beginning it was pretty much all they had time for.

the girl who is always there

The girl had lots of surgeries, and lost her thyroid, and then they called her a “previvor” because they said she got it out just in time before it was cancer.

The mom, she had a bunch of surgeries too.  In one they found cancer.  But she was called a “survivor” because it was all gone.  (Thanks to the girl who got diagnosed first and saved her life.)

The girl and her mom ran from doctor to doctor.  They sat in traffic for forever.  They stayed in hospitals and had surgeries, and tests.  Everyone treated them kind of strange.  Like they were aliens or something.  Their condition was so rare that hardly any doctors even understood what they were supposed to do.

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Over time the girl and her mom got a better idea of what really mattered and what didn’t.  They started to be more assertive about doctors, and schedules and planning.  They started to say, “not right now,” sometimes, knowing that a few weeks wouldn’t matter, but a few months might.

The girl and her mom talked a lot about Cowden’s Syndrome.  They talked a lot about Rare Diseases.  Sometimes they were really angry.  Sometimes they were sad, and other times they were grateful.  They saw what some other people with Rare Diseases went through.

The girl and her mom had LOTS of long talks, real talks about tumors, and tests, and cancer, and life.

They worked on some things separately and some things together.  But they agreed to get busy living.

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That didn’t mean they could ignore the seemingly endless doctors appointments.  They all had to be done.  It meant they could schedule smarter.  It meant they would talk about what symptoms had to be addressed right now and which ones could wait.  It meant they had to get really good at communicating.

This isn’t always so easy since the girl is almost a teenager, but they are getting pretty good at it.

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The girl had 4 surgeries this year, some more major than others, but she spent lots of time recovering.  And she learned that she liked to be busy.  She likes to sleep too, but she likes to be busy.  With kids.  Often.  She also likes to be active.  A lot.

The girl and her mom still have this Cowden’s  Syndrome, and sometimes for reasons no one understands, they hurt a lot.  Sometimes the pain makes it hard for one of them to push on.  Sometimes the tired almost feels like they can’t go on.

But the girl and her mom, they push each other.  They push each other to press on because laying down and giving up is not an option.

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Their days are long.  The mom works full-time.  The girl goes to 7th grade and makes high honor roll.

Their afternoons are full of drama club, the girl’s love of theatre, and lots of swim practice.  The days are often 13 hours or more of constant motion.

The girl and her mom, they decided that they might have a Rare Disease, but it definitely wasn’t going to “have” them.

So they decided that whatever comes their way, they are going to be active, healthy, strong, fueled with nutritious food, and built of muscle.  This way if Cowden’s punches, they will punch back harder.

Sometimes the mom wonders if life would have been different without the girl.  The mom wonders if alone she would have been able to push on.

But she doesn’t have to wonder.  Because they have each other.  And, because this weekend they spent 3 days at a swim meet.  And the girl knocked major time off her events.

And, when they came home, the daddy, who is the glue that holds them together, had warm chicken, and rice and vegetables, the healthy fuel  – all ready.

And the mom and the girl were so grateful.  For each other.  For the desire to fight.  For the strength from good food, and faith, and the love of a dad who backs them up every step of the way.

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And as the mom drove the girl to youth group at their church, they talked, about the swimming.  And about the fundraiser they are planning. So that Rare Diseases scarier than theirs get some attention.  “For the Babies,” and so that there can be research for this Cowden’s Syndrome.  So that maybe it can get stopped in its tracks.

And as the mom walked home enjoying the fresh crisp air of Fall she was filled with gratitude.

For this story of BEATINGCOWDENS has only just begun.  And each chapter holds more promise than the next…