“Take pride in your pain…”

take pride in your pain

My daughter is a reader.  She eats books up.  One after another.  I have pleaded with her to use the kindle, just to avoid the sheer volume of books in the house.  I lack the responsibility to be a good library patron, as my brain can’t remember even one more thing.  So the books build up.  There are gift cards, and sales.  And I never say no to a book.  Ever.

Her early childhood teachers nourished a love, no a passion for reading.  They gave her the skills to decode, to comprehend, and to find her genre of choice, and her escape.  She has needed that escape so often through the years that I find myself grateful for how easily the reading comes to her, and forever grateful to those precious teachers who likely have no idea how deeply they have impacted our existence.

This was a weekend full of homework.  It was a culmination of a month that began with being pulled from class for play practice, and continued through her surgery on May 6th, and seven days absent.  There are 4 honors classes to maintain, and for a perfectionist at heart, striving to get it all done has been nothing short of horrendous.  All the classwork, all the homework, all the projects, every last bit of it to be made up.

be soft

And I understand, to some degree, why nothing was forgiven.  Why she had to do it all.  I have sat in the seat of the teacher for 19 years and the reality is absent or not, sick or not, they are responsible for the curriculum.  That didn’t stop me from questioning the VOLUME of work and how it differed drastically from unbelievable to totally reasonable.  And it didn’t stop the stress and bitterness of the last few weeks from taking a toll on both of us.

I hate having to be the “heavy” all the time.  But, I was the one who had to put the books in her hand days post-op.  Still working the anesthesia and narcotic pain relievers out of her system, it was time to get started.  Knee elevated and iced, we talked through one subject after another.

Normally she manages all her schoolwork alone, and does it quite well at that, but this month I needed to stay with her.  Make sure all the pieces were getting put back in place.  Junior high is a step closer to the “real world” I guess, and while there was some awareness of her absence, life marched right on.

She hopped in and tried to catch up at school.  She spent the entire week there, despite my knowing by Friday she probably should have been home.  Friday night the fears were confirmed, as the classic sore throat began.  Honey syrup lasted through the night until the pediatrician was able to declare an ear infection, and likely strep throat.  She was cultured.  The script was filled, and even as she took dose number one, the books were open.

She worked in my office this weekend, so I could oversee.  Laptops side by side.  Lots of togetherness.  But, one subject at a time, it got done.  The notes were put into notebooks, packets were completed, homeworks were stapled together.  A science book was created and a newspaper for English class too.

And slowly as the last staple went into the last assignment, a smile crept over the corners of her lips.  Her throat felt just so much better, and there was this notion that the weight of the world had been lifted from her shoulders.  There may be more to do this week.  The year is not over quite yet.  But finally, she is all caught up.

fear

So she retreated to her favorite spot on the couch today, alternating between reading, and watching a series on Netflix.  She brought me her book, “Gathering Blue” by Lois Lowry.  “Hey Mom, listen to this…“Take pride in your pain,” her mother had always told her, “You are stronger than those who have none.”

She offered me a free hug and a smile.  Then she was gone, back to her day of much-needed peace, healing and rest.

But, the depth of her quote resonated with me.  Not only in amazement that she is able to extract such meaning from the context she reads, but also in the context of today, Memorial Day 2015.

When I started writing this blog it was all about therapy for me.  It was all about our journey, and what we were going through.  And still, so much of my day, so much of our lives, are consumed by Cowden’s Syndrome, its ravages and its effects, that leaving it out of my writing would be impossible.  For while it does not, nor will it ever, own us, or rule us, it had shaped us as we grow through this disease together.

Along this journey we have learned so many lessons.  We have learned to have a keener eye to the suffering of others.  We have embraced the reality that “everyone has something,” and we have a deep appreciation for the many blessings we have.

I spoke several times today with one of my Dad’s Marines, “Uncle Alan.”  I learned about lowering the flag to half mast till noon to remember the fallen, and then raising it to honor the living.  I learned about some more Marines, and for a short time I was able to provide an ear for someone whose grief on Memorial Day bears more than general images, but actual names and faces.  He speaks with such grace, such poise, and such a deep connection to his “brothers.”  I can not help but admire him, even as we have yet to meet.

I put together this picture last night.  All four of the veterans I love so dearly, only one of whom is still with us here on earth.  My Pop, pictured with my Grandma, almost 70 years ago in the top left.  At 95 his wit, compassion, faith, and humor still inspire me.

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I took some long walks today.  I had a few long talks, with God, and with my Dad, and some others gone too soon.  I embraced the beauty around me.  I gathered my inner strength to handle whatever life has waiting in the wings.

“Take pride in your pain.  You are stronger than those who have none.”

Remember THAT.  Always.

blessed not stressed

Now we’re back where we started…

“Do It Again” (The Kinks)

“Standing in the middle of nowhere,
Wondering how to begin.
Lost between tomorrow and yesterday,
Between now and then.And now we’re back where we started,
Here we go round again.
Day after day I get up and I say
I better do it again…”

The chorus to the old song rings through my head, as we prepare to return to work and school.  Eight days post-op and everything checked out just fine at the surgeon.  It’s ok to return to school, as long as she limits stairs, reduces the weight she carries, and generally takes it easy.  The surgery went well.  The recovery is moving along.  But, as with each time we’ve done this, there are no promises.  There are some cautious words.  There are some hopeful words.  This is what I have to focus on.  And I will.

But, sometimes it can be hard.

Like when you do research and turn up this page from an orthopedic clinic.  (Rosenberg Cooley Metcalf) and you do OK until you get to the bottom where it says “Recovery.”

Knee

Primary Inflammatory (Synovial) Disease of the Knee

Diagnosis

Your diagnosis is a primary inflammatory condition involving the lining (synovial tissue) of your knee joint.

Injury or Condition

This condition represents a primary inflammatory disease developing within the velvety lining (synovium) of the knee. In response to inflammation, the lining tissue can thicken and hypertrophy dramatically which may lead to chronic swelling.

Cause

The cause is often unknown. Some inflammatory diseases of the knee lining involve only the knee joint (PVNS). Other diseases like Rheumatoid Arthritis can affect multiple joints.

Symptoms

Typical symptoms are moderate to severe generalized swelling and pain about the knee. Marked swelling can be associated with stiffness usually in bending the knee. Increased warmth is felt about the knee in some cases.

Treatment

Standard treatment includes:

  1. Anti-inflammatory medication for six months.
  2. Safe exercises to improve strength without aggravating swelling.
  3. Ice, warm packs and knee balms can be used to decrease pain.
  4. Swelling can sometimes be reduced by application of elastic stockings and/or sleeves around the knee.
  5. Diagnostically, joint swelling aspiration and MRI can provide information, although it may not change the treatment.
  6. If non-surgical treatment fails, arthroscopic surgery to remove the diseased tissue (synovectomy) should be performed to limit or cure the disease.

Precautions

Important precautions:

  1. Do not aggravate swelling and warmth about your knee. Increased warmth and swelling may weaken your thigh muscles and may raise the risk of destructive changes within your knee.
  2. Do not ignore or neglect your condition. Follow recommendations and do not miss important follow-up visits.
  3. When arthroscopic synovectomy is necessary, elevate your limb very well for 48 hours and initiate full weight-bearing within the first 3 days of surgery.
  4. Avoid stress.

Recovery

As the cause is unknown in many cases, the recovery can be uncertain. Two-thirds of cases generally recover completely. Full recovery after arthroscopic surgery usually takes 3-6 months.

US Ski Team US Snowboarding
Rosenberg Cooley Metcalf Clinic“Two – thirds of cases generally recover completely.”  The math teacher in me is unhappy with those numbers.  The mother, the mother of this child, knows that she defies statistics whether they are for or against her.  She is her own special case.

Meghan spent the week on the couch, making up what seemed to be an astronomical amount of schoolwork.  Maybe it was a good distraction.  After surgery 13, the novelty of the whole thing has worn off.  Days are long.  Recovery is mundane.  People are busy.  Texting helps a bit, but the hours drag.

sigh

We got to PT this week, twice.  And already I see progress.  That’s why quality therapy is worth every minute.

So during my days home I did laundry, and caught up on some household things while I stayed close to my girl.  I also attacked “the pile.”

Busy_desk

There is a spot on my desk where all the bills, letters, invitations, flyers, and pretty much everything else goes.  I try to get to it every few days.  But mostly I don’t.  Then it overwhelms the table.  And somewhere under the pile is “the list.”  The upcoming appointments line the top.  Then there are the appointments I need to make, and the bills to be addressed that for some reason are not in “the pile.”  Today was a good day to tackle it.  I made some significant progress.

I also spent hours on the phone.  I dredged up the anesthesia bill from my surgery in February.  That took an hour.  But, it’s done for now.

I started scheduling appointments.  We tend to cluster a lot the first two weeks of the summer.  Some have been planned for months.  Some I’ve been blocking.  I got a few more in.  Then I got stuck.

In the hospital the pediatrician last week was really on my case.  She wanted to know who was “in charge” of Meghan’s appointments, check ups and surveillance.  She didn’t like that I said, “ME!”  (Maybe it was the way I said it… (grin))  But, truth be told, I really don’t like it either.

time struggle

I had to tell the endocrinologist that 12 weeks was too long to wait to repeat ANOTHER irregular lab finding last week.

Meghan’s blood pressure in the hospital was low.  Like at times crazy, scary low.  I know she was just cleared by a cardiologist, but…

And the lesion on her hand dubbed “vascular” by the dermatologist….  What to do with that?  The same dermatologist who promised the moon and the stars and the sky in November as I prepared HOURS worth of Meghan’s medical records for her.  The same doctor who said she’d help us.  That one.  Yep, she’s useless at this point too.

I was on the phone today pleading with the receptionist of one of my doctors to let Meghan come in as well.  Apparently the fact that she’s “adult size,” doesn’t matter.  I was left so frustrated I choked on a few tears.

run-clock

This Syndrome is big.  I can manage it.  I can and I will, because there is no other choice.  But, I need some help.  I need a point person.  Someone to force the doctors to listen.  Someone to gather it all into one place and make sure it makes sense.  Someone to make sure we don’t miss anything.

In desperation I emailed the genetecist who diagnosed us.  He responded within an hour.

Dear Mrs. Ortega,

I am sorry I said no need to return. I have been overwhelmed with patients but this is no excuse. I will find out the referrals needed for Meghan and we will together make a surveillance plan. And we will meet so we will document the whole process.

I feel that I am the least helpful of all the physicians because I do not provide treatments. However, I will gladly assume the role of coordinator of care for you and Meghan. 

Sincerely,

(The angel I need… I hope)

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I will call tomorrow to make an appointment.  I have a good feeling about this one.  Please, whatever your faith, send some prayers.  This would be huge.  Really huge, in a life-changing good way.  We are three years in and due for an overwhelming cycle of tests again I’m sure – but I know it gets easier.

I just want to keep her safe.  I want to use every tool God has given me to keep her as safe as I possibly can, so we remain BEATINGCOWDENS together.

“…Where are all the people going?
Round and round till we reach the end.
One day leading to another,
Get up, go out, do it again.

Then it’s back where you started,
Here we go round again.
Back where you started,
Come on do it again…”

Hurry up… and waiting rooms…

The early hour usually means I would be at work.  Instead, I am sitting on the 10th floor, in the waiting room.  Again.

Right now my beautiful girl in undergoing surgery number 13, the 6th on her knee.  The goal is to stop the blood that has been leaking into her knee and causing degeneration and chronic pain.  This time there is a new doctor at the helm, an orthopedist from Long Island.  Our vascular guy, the leader of surgeries one through 5 on that same right knee has taken a back seat.  He is on standby.  We are sitting.

Waiting.

Alone with our thoughts.  Not always my favorite place.

These last few weeks have been a whirlwind.  When we met the orthopedic surgeon in February, and Meg said May was a good time for surgery, she had certainly calculated her plan.

Over the last few weeks, we have been busy packing in as much good stuff as we could fit.

The school play, her first production, was April 30, and May 1.  It was such a thrill to watch the spirited enthusiasm from my daughter and all the other children.  She is hooked.
 And while drama practice was going on 5 days a week, she was still making three swim practices a week, working hard to finish out strong.  As a result she received the “Coaches Award” at the team dinner last week, and she was moved “up” a level.  She was able to practice with her new group starting Monday, so she got in 2 practices before this procedure will derail her for a bit.


She also almost finished the CYO Swim season.  Making 7 out of 8 meets (the last one is May 9th) she swam hard and strong one day each weekend as well.

In the midst of all this, she managed to balance her time well and was inducted into Arista, the National Honor Society.

All the while we looked for spring clothes, and shoes (in 2 different sizes) for my beautiful 5 foot 5 young woman.

I know there are people who are busier.  I know multiple kids jostles the world.  But, I also know I am proud.

She ran on raw nerve.  She pushed and pushed in ways that would have taxed a healthy child.  And she made it.  Sunday’s morning swim meet was a no – go, but I am just so impressed she accomplished all she did.

And just for fun she broke her first pair of glasses yesterday. Not bad for a kid whose had them since K. New pair already on…

 And I’m impressed I got her there.

We like to convince ourselves that we are just like everyone else.  But the reality is that this genetic disorder messes with our bodies and our minds.

As I said to the nurse this morning when she wondered why Meg was a little edgy,  “It’s not you.  You are just an ACCUMULATION of her life.  Step by step.  Poke by poke.  Surgery by surgery.”

I think she got it.  Maybe.  As the woman in the bed next door in preop – clearly in her 60s, said she had never had surgery before.

So very hard to believe.


I’ll update later.  I’m waiting.  Cheering my kid on as she continues to be BEATINGCOWDENS.

To My Daughter’s Team of Medical “Professionals…”

I went to college, and graduate school, and took 30 credits above my Master’s Degree in Education.  I earned a job as an elementary school teacher, in the school I attended as a child.  And, after 18 years on the job I still love those moments when I am alone with my students, and things just “click.”  But, nothing happens by accident.  And despite the belief that a teacher’s day ends at 3PM, many a long night has been spent with those very students in mind, planning lessons, and creatively trying to reach them where they need to be met.  I am not always successful in my execution, but I am confident in my planning and preparedness.

Because, you see that is what I was always told a professional is, and does.  You LIVE your “job.”  You are still the teacher, in the mall, in the restaurant, or even in CVS.

As a professional educator, I take pride in TRYING to meet the needs of my students at their level.  It is my responsibility to help every child, not just the easy ones.

But, lately I am wondering if every professional has that same feeling.

Now, I mean no offense to the various healthcare professionals who go above and beyond for us, and for their other patients.

It’s just, well, the rest of them.

Having Cowden’s Syndrome sometimes feels like, well like I would imagine it might feel to have a plague, or leprosy.  People, doctors, whomever, look at you tentatively.  They look with caution.  They don’t want to get too close.  They are afraid to treat what they don’t understand.

And worse – no one wants to be in charge.

We are the worst kind of liability – more dangerous than a safe full of cash or a rare artifact.

Everyone wants to see us, all the time.  But, they just seem to want to check boxes that say they’ve met their “I’ve seen a Rare Disease” quota, and send us on our way.

I am the CEO of my daughter’s medical care, and while frighteningly competent to do the job, NO ONE is listening to me.

To My Daughter’s Entire Medical Team:

You are dropping the ball here.  Someone step up and take charge.  Talk to each other.  Get your egos out-of-the-way.  LISTEN to me.  LISTEN to her.  Put her picture on her chart to remind you she is a REAL person.  

She is charming and beautiful.
She is charming and beautiful.

Believe her when she says it hurts.  Even when it is not “supposed” to.  Validate her.  

And sometimes. as unpleasant as it is to see, there is lots and lots of very real pain.
And sometimes. as unpleasant as it is to see, there is a lot of very real pain.

 

She talks a lot when she’s nervous.  Care about what she has to say.  Care that she is nervous.  Learn about her love of swimming and reading and performing.  Adapt your plan, your day, your treatment to fit MY child, just as I would do to yours in my classroom.  Treat her as a whole person.

We are tired of spending hours in the car, missing practices and play, and relaxing time, just for you to feed us a line of “maybe,” “watch that,” and “come back.”  We are tired of going places where no one wants to give us answers, or even answer our calls.

We are tired of surgery.  But we do it.  Over and over.  

It's a real person enduring those procedures.
It’s a real person enduring those procedures.

Call back when I have questions.  Like within 24 hours.  Because I carry my phone until it leaves an imprint in my hand when I wait for you.  Nothing else gets my concentration while I wait for the ring.  I carry my list for fear of missing that precious window with you.

Oh, and by the way, the foot with the AVM had stopped growing. Take a look. Someone.  Please.  It’s a bit disconcerting.

She’s hot.  Often. And at odd times. And I’m not just talking a little uncomfortable.  Anyone want to help address that one?

And yesterday the dermatologist said it’s a vascular malformation in her hand.  Another one.  Please don’t tell me it’s not all connected.  I’d rather you tell me you don’t know.

Don’t ignore her symptoms because you don’t understand them or can’t explain them.  Trust me when I tell you, she’s not making it up.  Any of it.  She spends her time trying to make the world better for other people. Isn’t it about time you all got it together and started making HER world better?  

And when the knee is at it's worst, there is still a way to press on.
And when the knee is at its worst, there is still a way to press on.

The pain in the knee is constant.  Yep, I know it “shouldn’t” hurt either.  But, she doesn’t even ask for medication anymore for fear of the same issues her last pain medicine caused in her GI tract.  She just endures.  All day.  And then she goes to drama, and then she swims, and manages an average of 97% and the National Honor Society.  She limps a bit by the end of the day.  It’s the mornings that are the toughest.

To you she is one of many.  To me she is my one and only.  And this child,  young lady, has the capability to effect great, positive change in this world.  I know you are tired.  I know your schedule is busy.  I know research takes time.  Start by listening to us.  Listen.  Care.  Let her know she matters.

Then maybe, just maybe, she’ll start to trust you.  Then, slowly, together, you can try to make her life more comfortable.  Because, with or without you, she and I are BEATINGCOWDENS together.

Sincerely,

Her Very Determined, Sick of Excuses Momma Bear!

The Heart of a Champion – an open letter to my daughter

Dear Meghan,

Today Daddy and I watched you swim in the Silver Championship meet.  It was your first qualifying meet, and it won’t be your last.  We find it amazing that you qualified, and for the 100 butterfly no less, in only your second year of swimming.  To say we are proud would not even begin to define how we feel.

Today was just another example of how you amaze us, astound us and impress us.  I know, parents are supposed to be proud of their kids.  I get it. But, when I think of what you go through each moment of every day, I truly am left in awe.

I get that you like swimming because you can feel “normal.”  There is no special treatment in the pool and the clock forgives nothing.  Cut times are clear and either you make it or you don’t.  Believe me, I don’t look to make excuses for anything or anyone.  You know that I can be kind of tough.  (I get that from Grandma, along with a bark that’s worse than my bite… :-))  But sometimes in those moments when you are your toughest critic you have to allow yourself the same forgiveness your warm heart offers to others without hesitation.

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Living with Cowden’s Syndrome is a tenuous balancing act.  To stay on top of things the way you do takes intense effort.  I think most people would be physically and emotionally exhausted to live your yesterday – let alone your every day.

Last night when your back gave out, and the pain was too intense for me to even touch you, I gave you every out.  I gave you every excuse not to swim today.  You wouldn’t hear of it.  Your hips, the exact point you need your force to kick for your favorite butterfly were tender to even the gentlest touch.  It took you hours to rest because your body allows nothing to contend with the pain.  So I held your hand as you wiggled and squirmed for hours.  I reminded you I loved you as you desperately tried to rest.  I stroked your head when you finally passed out from exhaustion.  And I was glad the lights were off to hide the tears that stained my face.  Tears, not of pity, but of grueling agony of watching my dearest love suffer some more.  I knew as I laid there it was unfair.  That your knee was still hurting too, and now your back.  I knew I made no sense for all this to be coming the night before something you wanted so badly.

A-champion-is-someone

That defines your life.  Sometimes the hits are small and consistent.  Sometimes they come out of nowhere, but you just keep going.  You just keep fighting.  And truth be told, you inspire me to do the same.

Yesterday we went to look at shoes.  You’ve been complaining for months that your left sock is tight.  The orthopedist measured your feet and acknowledged the 1cm difference between them.  But, I don’t think either of us took in the reality until we were in the shoe store and saw this.

Left Foot
Left Foot
Right foot (AVM leg)
Right foot (AVM leg)

Another realization that we needed to go about things a different way.  So we picked out your shoes, ASICS GT 2000 3 in a 9.5 and a 10.5 and we spoke to the store manager at Dick’s.  He will help us.  Because we asked.  But, I know it got into your head.  The wonder about the upcoming surgery in May and the worry about what this AVM is doing to your knee in its spare time.  And I HATE not having any answers for you.  But I don’t.  I can only promise to be with you every single step of the way.

And as I got your pills out yesterday morning, and I helped open your thyroid pills, I thought about the year since you had a complete thyroidectomy.  It was just over a year ago you became a thyroid cancer “previvor”  when your 19 nodules, including three precancerous ones, came out with your thyroid.  It occurred to me for about the 5,000th time this year, that your thyroid is STILL not balanced.  We don’t give up.  We keep trying.  But its you who has to wake up every day and function  ok soar, with levels that would leave people 2 and 3 times your age crying in their beds.

So when you took the block today, I took a moment to take it all in.  I took a moment to take a good look at you, and I swear I could see the heart of a champion beating in your chest.  I saw your green and black suit, and your prescription goggles, but in that moment I saw your raw heart.  I saw the feisty determination that gets you through each day.

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You might not have seen your best time on the board.  But, me, I saw a champion.

The free dictionary defines a champion as:

cham·pi·on

 (chăm′pē-ən)

n.

1. One that wins first place or first prize in a competition.
2. One that is clearly superior or has the attributes of a winner: a champion at teaching.
3. An ardent defender or supporter of a cause or another person: a champion of the homeless. (or those with rare diseases – Ok I added that)
4. One who fights; a warrior.
And while you may not get a first place medal, you have won by walking through the door.  You have overcome greater odds than anyone ever really knows.
You take the high road, even when it’s the tougher one to walk.  You put other people first.  You advocate for those less fortunate.  You stand strong for what you believe.  You excel in school.  You soar at your extra curricular activities, and even within the pain that is relentless, you are an athlete too.  You my girl, are a warrior, a true champion.  Because as you get older you will come to realize that success is not defined by the highest grades, or the most first place ribbons.  Success is defined by your character, by the person you are.
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So my girl, when you lay your head on the pillow, know that I admire you with every aspect of my soul.  Know that I respect that you daily work to be the best YOU, you can be.  Know that YOUR BEST is ALWAYS good enough.  Know that your compassion changes people.  Know that you, in your own way are making an impact in this world.  And most of all, know that you have two parents who love you more than you can possibly understand.
Thank you.  For being more than I could have ever hoped for in a daughter.  For even though we will hit rocky roads sometimes, we have seen so much, side by side and hand in hand.  You my girl, have the heart of a champion, and there is no one I’d rather travel this bumpy road with than you.
All my love always,
Mom
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Twelve Surgeries in 11 Years: Living With Cowden’s Syndrome

http://blog.silive.com/gracelyns_chronicles/2015/01/twelve_surgeries_in_11_years_l.html

The content of the article is pasted below.    Please click on the link above to read the story in full effect.  The photos were added below as reflection by me!

This article appeared in our local paper.  Dr. Santos did an outstanding job capturing Meghan’s essence.

By Dr. Gracelyn Santos | gsantos@siadvance.com
Email the author | Follow on Twitter
on January 08, 2015 at 11:00 AM, updated January 08, 2015 at 1:52 PM

STATEN ISLAND, N.Y. — Meghan Ortega, a Westerleigh sixth-grader, is one of my favorite dental patients and one of my twin daughters’ dearest friends.

A graduate of PS 29, Meghan is a Principal’s Honor Roll student at Markham Intermediate School in Graniteville. She loves drama, is an avid reader, loves to swim and has a broad smile and sunny disposition.

Meghan also happens to be one of the bravest kids I know. In her 11 years, she has had 12 surgeries. Twelve. She hurts every day, but has learned pain is part of her life.

Meghan has a rare genetic disorder called Cowden’s syndrome.

Cowden’s falls under the umbrella term of PTEN hamartoma tumor syndrome. The PTEN gene, which suppresses tumor growth, malfunctions, resulting in benign and malignant tumors developing all over the body.

Approximately 30 percent of children with genetic disorders die before their fifth birthday, so Meghan is fighting for her life with preventive screenings and surgery.

As her dentist, I saw firsthand one of the oral manifestations of Cowden’s syndrome — a suspicious gingival (gum) growth — for which I referred her to an oral surgeon for biopsy and excision.

Not once did I ever hear Meghan complain.

The PTEN gene is passed on in an autosomal dominant pattern and is rare, affecting one in 200,000 people. The cancer risks are high; the lifetime breast cancer risk seems to exceed the BRCA risk, and there are significant risks for thyroid, uterine, kidney, skin, colon, and countless other malignancies.

To keep a close eye on the disease and its progression, Meghan sees doctors regularly for preventive screenings — including biopsies.

But she is just happy that she finally has a diagnosis.

When Meghan was a baby, her parents, Lori and Felix knew something was “not right.” She was chronically ill. She suffered with gastrointestinal distress well past her first birthday, and her diet had to be free of gluten, dairy, soy, dyes and preservatives. Her gallbladder was removed when she was 3 years old.

Meghan also had a lipoma taken from her back and her tonsils and adenoids removed. She had to have a complete thyroidectomy because of 19 rapidly growing abnormal nodules on her thyroid gland, three of which were deemed pre-cancerous.

The most notable of the surgical procedures for Meghan’s abnormal growths were the five she had to undergo as a result of an AVM (arteriovenous malformation) in her right knee. While AVMs are not exclusive to Cowden’s syndrome, there is an increased incidence in the population.

Recently she was hospitalized for a week because the medication that helped control the AVM in her knee caused damage to her GI tract and her esophagus.
She was taken off that medication and is healing, but the pain has returned to her knee.

It is one of the constant smaller battles she fights with side effects of the multiple medications she must take.

Meghan is often at a doctor’s office. Barely a week goes by without at least one appointment. She waits like a champion for hours on end, because she is conditioned from years of practice.

Lori, her mom, firmly believes Meghan saved her life — because of Meghan’s diagnosis, she also was tested and confirmed positive for the PTEN gene mutation. She had surgery as well, a prophylactic double mastectomy.

In a world where we often get wrapped up in trivial annoyances, Meghan is an inspiration, a reminder that in the great scheme of things, people all around us are fighting real battles.

Although Meghan has met some great friends along the way, it is often a struggle for her to relate socially to most children, who likely have been to the doctor only once a year their whole lives.

Meghan’s experience of living with Cowden’s, combined with the food issues, can be isolating for her, realizing early on that talking too much about pain to her peers can also increase the isolation: It is hard for them to relate.

So she threw herself fully into support of other children and adults who have rare diseases, like the one she and her mom share.

She worked with one charity, the Global Genes Project (www.globalgenes.org) soon after she was diagnosed.

Meghan also sought a symbol for those with multiple medical issues and what developed was beautiful: A denim ribbon, a nod to the slogan, “Hope, it’s in our Genes.”

The first year after her diagnosis, Meghan simply wanted to hand out Denim Ribbons on World Rare Disease Day. The second year, she worked with the Student Council to organize a successful fundraiser at school.

Now, Meghan has struck up a friendship with Borough President James Oddo, who has invited her to Borough Hall several times to talk about ways she can make a difference. He has become her mentor, helping her find her voice.

This year, Meghan has organized a fundraiser to be held Sunday, Feb. 15, at Nicotra’s Hilton Garden Inn in Bloomfield, to raise awareness and money for rare diseases. To help others like her, many worse off.

Her goal is to educate everyone about rare diseases in general.  She is acutely aware that everyone struggles, but wishes there would be less judgment and more support. One of her pet peeves is people who say, “You don’t look sick.”

For more information about Meghan’s journey and to support her fundraiser, please visit her blog, http://www.beatingcowdens.com  Tickets can be purchased at http://www.eventbrite.com.

 

Alex and ANI hero front

wear that you care photo

do something

random-acts-of-kindness

Meghan 2014 Nominee for Global Genes Project Teen Advocacy Award
Meghan 2014 Nominee for Global Genes Project Teen Advocacy Award
2014 Kid of Achievement - Staten Island Children's Museum
2014 Kid of Achievement – Staten Island Children’s Museum

Rare Disease Day Fundraiser

 

Plot Twist!

We are thinking we are far from alone in appreciating this Facebook post from the Global Genes Project.  I mean these days it seems more than ever, I barely talk to someone whose life isn’t taking major, unforeseen “Plot Twists,” on a regular basis.

Global Genes hit this one spot on!
Global Genes hit this one spot on!

Whether it is the sick parent, or parents; the terminally ill or recently passed loved one; the stress of work, moving, new job, or the new house,  life has a habit of not going according to plan.  Brain surgeries interrupted, recurrent thyroid surgeries.  The list really goes on and on.  The only constant being change.  And not on our pace, or our time.  God alone knows the true plot of our stories.

Some have almost played out and are nearing the climax.  Others are barely introducing the characters.  And the older you get, the more you realize that doesn’t have as much to do with age as you might have once thought.

Sometimes I want to read faster.  To see what comes next.  To see how it all works out in the end.  Sometimes I want to hide the book in a deep crevice, in a padlocked safe and convince myself that if I just don’t look at it, everything will be OK.

My logical mind knows that neither is true.  And I, like everyone else, am left to brave each day doing the best I can with what I have, where I am.  I am left to do my best to be kind.  To realize everyone suffers battles.  To pay it forward when possible.  To pray for the best, and have faith when the worst hits.

522ha-christopher-robin-to-winnie-the-pooh-quote-promise-always-remember-that-youre-braver-than-you-believe

We plod along here.  The leg is getting worse.  Much worse.  The AVM is rearing its ugly head.  A “Plot Twist” indeed.  See in May when she spent a week in the hospital with severe gastritis, they said no more Celebrex.  No one except Felix and I got the gravity of that statement.  Celebrex had been in our lives since March of 2012, a month after the 4th knee surgery.  And the knee had been remarkably quiet.  You see in our lives, the life of Cowden’s Syndrome, Celebrex is used to treat AVMs – which are pretty common among us.  It helps with the pain, and it has an affect on angiogenesis, which affects the flow of the blood.

Except the Celebrex, according to the report, had caused a very sensitive GI tract to go totally haywire.  They said it caused 6 days in the hospital, dehydration, IV fluid, and a hot mess of tests.  Over and over Celebrex took the blame.  The drug she had taken peacefully for 2 years had finally said, “enough.”  The esophagus was so damaged it looked like a 70 year-old man belonged to it.  No more Celebrex.  No more NSAIDs.  At all.  We were scared.  Something had definitely gone wrong.

“PLOT TWIST!”  Cause those drugs were keeping her walking, sometimes running, swimming, and playing.

But we wonder, her Dad and I, if that was really that simple.  Our girl has been on some time of Protein Pump Inhibitor since she was 4 months old.  She takes pancreatic enzymes to aid her digestion of a very restricted diet.  And still we have always had to “pay attention.”  Maybe it was the Celebrex.  Probably it was the Celebrex. But what if it wasn’t?

When we left the hospital in May we figured 6 months before the knee was a serious issue again.  It started in August.  It’s getting worse.

On December 1st we’ll see the doctor who has dealt with it each time before.

But now we have an athlete.  A swimmer who LOVES to compete.  A swimmer with goals.  Attainable goals.  The time on Celebrex gave her time to get a taste of swimming.  And she likes it.  A lot.

So there will be some balancing to be done.  How long is it safe to wait?  How long can she stand to wait? How much of the season can she swim?  How much pain can she take? How big is the AVM?

We have things to focus on.  The February find raiser has us excited, and occupied.  We will keep busy.

The story will unfold.  Some of the best ones have multiple plot twists.

I mailed 15 pounds of medical history to the doctor who showed a hopeful interest a few weeks ago.  She’ll have it tomorrow.  Now let’s see what becomes of it.

Life doesn’t allow for planning.  Mom keeps telling me.  This year there is more up in the air than down.  And yet, the days will come, one at a time.  We will meet them, deal with them, and move on.

Cause really what other choice do we have?  What choice do any of us have?

Saturday as she cleaned the music blasted.  Katy Perry’s, “Roar”

…You held me down, but I got up (HEY!)
Already brushing off the dust
You hear my voice, you hear that sound
Like thunder gonna shake the ground
You held me down, but I got up (HEY!)
Get ready ’cause I’ve had enough
I see it all, I see it now…

…I got the eye of the tiger, a fighter, dancing through the fire
‘Cause I am a champion and you’re gonna hear me roar…

plot-twist-ahead-sign

 

Competence, Compassion and Dedication? All at once!

Yesterday afternoon began very typical of so many of our days.  I left work, got Meghan at school, and instead of heading home we headed to 60th and 5th for a doctor’s appointment.

Trip to Manhattan, not a problem.  Trip IN Manhattan – super high stress.

breathe stone

Felix met us and I was able to let Meghan out of the car to endure the extra 20 minutes needed to get around the block to the parking garage I had printed a coupon for.  Silly as it may sound, that advanced planing has saved me hundreds of dollars – as our bill yesterday alone was a meager $35 for the lot as compared to the $63 it could have been.

Inside we filled out tons of paperwork, Meghan and I as new patients, and Felix in for his one year follow up.  It was the first time we’ve actually had an appointment as a family.

Last year we ended up with this doctor for Felix after a skin biopsy went bad locally.  It took weeks for me to obtain less than favorable results, news of unclear margins, and the potential wait of several weeks for a repeat excision.  I promptly transferred the biopsy slides and all information to a cancer specialty center in Manhattan and we met our doctor.  She had the slides reviewed and told Felix that not one, but BOTH sites biopsied needed further attention.  She took them to clean margins and ultimately diagnosed him with “Dysplastic Nevus Syndrome.”  He had been fortunate.  Precancerous lesions cleanly removed.  Annual screening from then until forever.

This year Felix squirmed a bit when I talked about his follow up, but I knew if we could all be connected to this doctor it would be a win all around.  Little did I know the scope of the score it would be.

Meghan, now with not only Cowden’s to raise her skin cancer risk, but also the genetic “dysplastic nevus syndrome”  potentially inherited from her father, needed a dermatologist in place for annual screenings – ASAP.  And for me, well, it was something I had been doing, but not with someone too good.  Time to ratchet it up a notch.

The doctor was amazing.

She immediately made Meghan feel comfortable and valuable, and spoke with her at length about the presentation of Cowden’s Syndrome she had experienced.  My daughter is incredibly empowered about her own health and held a 10 minute conversation quite nicely.  While I filled in a few gaps, the doctor told us she had worked previously at the NIH, (National Institute of Health,) and the NCI (National Cancer Institute) and was therefore, aware of Cowden’s Syndrome.  That alone is a rarity in our world.

But she took it much farther than that.  She wanted to know about the disease presentation in me as well.  She wanted to know how much had gone on before and after diagnosis, and how difficult of a path we had traveled to try and find knowledgeable doctors.  She was in constant thought, wondering about what she could do.  She spoke almost immediately about training her peers to be the front lines in screening for Cowden’s Syndrome, and how if they could identify classic marks like the trichilemmoma she removed from my forearm, they might be able to raise flags early and help save lives.

Harmless enough, common in Cowden's Syndrome, she wanted one confirmed though biopsy.
Harmless enough, common in Cowden’s Syndrome, she wanted one confirmed though biopsy.
Healing... less than 24 hours later.
Healing… less than 24 hours later.

She wanted to know what we had in terms of screening, and records.  What could I send her?  CDs?  Images?  PDF?  How fast?  She could have my CT scan reread for no fee.  Just send everything.  (Of course everything is in about 6 inches of binders.  So there is sorting and scanning to be done.

What is this http://www.PTENfoundation.org ? She wanted to know.  Can she refer people there?  What if she publishes in a dermatology journal?  Could she list the foundation?

My head was literally spinning – but in a good way for once.

I am going to present on you she said, both of you.  But no one has to know its you.

And finally a doctor who ALSO feels this way!
And finally a doctor who ALSO feels this way!

“Can I come?” asks my curious 11 year old.

“Of course…”

And as she took such a liking to Meghan she asked me who was managing her care.  When I said, “me.”  She was visibly bothered for me.

Someone should be looking after her.  Let’s think about what she needs.  And with that she rattled off doctors to handle things I couldn’t get my local doctors to address with a ten foot pole.   She told me I’d hear from her this week, and from some other doctors too.

I left with three negative exams, 6 months for me and Meghan, and a year for Felix.  I left with my belly hungry and my head racing.

Was I dreaming?  Had I really finally found the doctor to help us?

No one should have to travel your path alone, she said.  You need help navigating.

From her lips to God’s ears.  May she be true to her word.

In the mean time I have quite the homework assignment.

So as I sit with my “eventbrite” window open, excitedly hearing the “dings” of attention out February Fundraiser is generating – I am going to get started on perhaps the most important homework of our live

Soft Lock Downs and other things that shouldn’t be…

I spent the weekend with my college roommate.   She was the one I lived with the longest.  She was the one who introduced herself to me the first day.  She held me 2 months later as I was wracked in sobs at the loss of my cousin Meghan on my 18th birthday.  She learned how to drive in my Toyota.  We had fun, shared friends, and life, and got to know each other in deep ways saved for long term friends – or ones you’ve lived with.  We gathered enough good dirt on each other to be sure we’d be friends forever.

friends-are-forever

The last time I saw her was in December.  She and her husband showed up at the wake for my Dad.

The time before that was when I made it out to the wake for her Mom.

Somehow we find each other…

And this weekend we hugged first on Friday, in that room in New Jersey, miles away from each of our homes.  We cried, and hugged and pulled it together.  As the scene was replaying itself again.  But this time it was far worse.

College Graduation - 1995
College Graduation – 1995

It’s not right that we don’t see each other.  And it’s no one’s “fault.”  And I have a few dear friends I am in the same situation with – whose kids I’d barely recognize if it weren’t for Facebook and Instagram.

We stood together for a while, just the two of us.  Interrupted only by people trickling by.  We spoke about his fight.  His strength.  His battle.  I told her how much I respected all he did to fight.  I told her I was so privileged to have shared a few email exchanges after he took to this blog.

But, from where we stood, in the out of the way corner that defined her comfort zone, we might have even forgotten why we were there.

Although the reality became apparent through the greetings, and the hugs, and the “I’m so sorry…” sincerely sent in her direction, over and over.

Her little brother had died.  Her “little” brother was little in age, not in height or spirit.  He had a presence about him 20 years ago when I greeted him in our dorm room.  When he spent time with us.  His charm, and sincerity, and personality resonated even then.

Her “little” brother was 36.  Diagnosed with stage 4 pancreatic cancer months ago, he fought with every fiber of his soul, through every treatment and surgery presented.  He fought for his family, for his wife of 10 years, and for his two handsome young sons.  He fought out of zest and a love of life.  He fought for his siblings and his Dad.

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I remember when she and I spoke this summer.  I remember the conversation because she asked me a question I didn’t want to answer, but one I had needed to ask myself months earlier.  She asked how long it had been for my Dad, from the time he was diagnosed until the end.  And as I choked over 10 weeks, I instinctively tried to fill that statement with stupid things… “he’s young, there are things he can do…”  But, she had heard a number.  Just as I had when I had asked the question months earlier.

And I kept an eye on the calendar as I checked in on my friend.  And every day I thought of her.  I prayed often for her brother, and the family.

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Sunday came the text that he wouldn’t make the week.

Tuesday came the one that said he was no longer suffering.

Friday rolled into today, and we sat.  Side by side in a standing room only funeral parlor.  We hung onto each other’s hands and friends and family alike shared stories, and memories of a guy who seemed to have been larger than life.  And my favorite story of the day came when they said he went back to college after he had his boys.  And he got his Master’s Degree too.  Not for financial gain, but because, “How can I hold my boys to a higher standard than I hold myself to?” Class.  His spirit filled the room.  There was an abundance of support, and love.

And then we were at this backyard party at her brother’s house.  And to the naked eye it could have seemed like any end of summer gathering.  But it wasn’t.  People were eating, and sharing stories, and passing time together.  And two handsome blond boys ran about with their friends.

And then there will be tomorrow.  And this young woman, now a widow, will need to press on for her boys.  And those boys will slowly come to the realization that Daddy is never coming home.  And his sisters to the reality that he won’t be at the next gathering, and his Dad to the realization that his son and his wife have now gone on before him – leaving him with lots to take care of.

36 years old.  Father of 2.  Dead from Pancreatic Cancer.  Illogical.  Incomprehensible.  Insidious, painful, horror show of a disease.  It just doesn’t make sense.

At all.

And there have been so many things that don’t make sense.  Ever.  They pale in comparison to the horror of a son and a brother, and a father dying out of order, yet still they are the things that keep me wondering about all things.

I think it was Wednesday at work.

I had a first grade class.  And the loudspeaker went something like this, “This is a soft lock down drill.  Please take all proper steps.”

And just like that 28 first grade students instinctively went to the back corner of my room.  The stayed low and quiet as I shut the lights and the smart board and locked the door.  They got themselves out of sight of the glass window on my door.  And they sat.  Silently.  And I was stunned.  I think it was the 10th day of school.  They range from 5 to 6 years in age.  And they never moved.  They looked to me for a reassuring face.  I faked it.

Truth is as necessary as I know they are – I HATE those things.  And in this post 9/11 world, littered with countless nonsensical school shootings, and deaths, I get it.  And I take it seriously.  And the reality that one day we COULD be a target of chaos doesn’t escape me.  But that doesn’t mean I have to LIKE it.  I don’t like that we need to scare the crap out of these little ones just in case.  They are growing up in a wild world.

So wild that when Meghan’s Social Studies homework became to be aware of the news every day, (something we actively have tried to hide her from because there is just enough CRAP in her life) one of the first stories to come across was terror threats in Times Square.  She gets things very quickly.  And she is stellar at context clues.  Dad’s in Times Square every day.

These kids are growing up in a tough world.  Grown up worries.  Grown up realities.  Young minds.  It’s so hard to make any sense of it at all.

And so when the ones who are supposed to help -just don’t, well that seems to make things worse.

In the middle of the renovations that swallowed the end of August, Meghan broke her foot.  A stress fracture to one of the superficial top bones.  I am absolutely not getting “Mother of the Year”” for this, because I was in full on “suck it up we have things to do” mode for the first 36 hours after she banged the foot hard into a misplaced shelf in the basement.  That was a Thursday night.  And by Saturday of Labor Day weekend, we found ourselves in Urgent Care with a “suspicion of fracture.”  Of course being a holiday that simply meant ice, rest and elevate till Tuesday when we could get to the podiatrist.

meghan boot 2

And we brought the X-ray, and the report.  And everyone was very pleasant and we were told that the X-ray abnormality didn’t exactly line up with the point of severe pain.  So, clinically it was appropriate to diagnose a stress fracture, put her in a boot, and have her repeat the X-ray in 2 weeks.

So she began middle school days after getting her braces off, with this giant black boot on her leg.  And she plugged along for two weeks, and we got the X-ray repeated as we were told to.  So, when we returned to the office for the recheck we gave them the disk and the report.

There was some grumbling about the  radiology place we went to writing the “worst” reports (but no one told us where to go,) and some discussion in the other room about things on the film that were “probably nothing.”  (Doctors should learn some moms have rabbit ears.)

So he came into the room after having had Meghan take off the boot.  There was a surgical resident in tow.

“How does the foot feel?”

Meghan, “Much better.”

“Great, there’s no evidence of fracture on the x-ray.  You must have healed.  Let’s transition you off the boot.”

meghan boot 1

Please know during this whole exchange he NEVER EXAMINED HER FOOT!

Me, having already read the X-ray report, ” What about the report talking about “bony bridging and bordering sclerosis.?”  Does that mean anything?”

“Well, it’s not causing her pain is it?”

Me,”Well she doesn’t have foot pain, per se, but, there is chronic joint/muscle/bone pain that we work on.  Could things being out of order in the foot trigger some of this?”

Me,”I guess really what I’m asking is, is anything on that X-Ray consistent with Cowden’s Syndrome?”

“Well does Cowden’s Syndrome cause bony overgrowth?”

Me, “You’re the doctor, I am asking you.”

“But you are far more familiar with the syndrome than I am.”

Me, in my own brain, Thanks to Google University, and then out loud, “Are you seeing this? (pointing to the extra bone that juts out of her left (and right) feet) on the X-ray?”

317152-google-library

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=201 ( You may have to cut and paste the link)

(THAT IS A PAGE FROM A WEBSITE, reviewed by a doctor at the cutting edge of PTEN research.  It took me less than 10 seconds to find.  It verifies bone cysts connected to Cowden’s Syndrome, and had anyone asked I would have been able to tell them about the “non-ossifying fibroma” in the left femur that scared the crap out of us when she was 2.)

“I don’t think so, but you should probably have a specialist look at that.  I don’t need to see her again.”

GOOOOOOOOOOD THIIIIING!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

And I turn to see the tiniest tear in the corner of Meghan’s eye…. “Mom, he never even touched my foot.  He has no idea what the problem really is.  What’s the point of wearing the boot?  I have to trust my own body cause they don’t know anything.  I think its healed and the boot is hurting my knee.”

Fair enough.

She’s the closest I have to a doctor, and the thing that has made the most sense all week.

When you have a diagnosis that leaves you prepped for cancers of all types at all ages and in all places, there are things that rock you to your core.

Sometimes living with PTEN Hamartoma Tumor Syndrome is like living under the constant threat of a terrorist attack.  But the terrorist is cancer.

You get to live in fear, or live your life.

You get to try and make sense of things, or run with them anyway.

With the motivation of those – not connected to us by Cowden’s, but connected to us by life – who have fought the good fight, I try to stay focused.  To live life instead of hiding in a corner, or some days under the bed with the lights off…

So many things, so many tragedies will never make sense.

confused

But it’s less about making sense, and more about being sensible.  It’s about instinct.  And love, and compassion.  And cures.  I am a big fan of cures.

Tonight, wherever you are in your life. Whatever is rattling your world, I ask you to stop for a minute.

Say a prayer for those two little boys who will begin to know that Daddy is never coming home.

Say a prayer for a family who lost a 36 year old high quality man too soon.

And please.  In this world that makes no sense.  Do something logical. And kind.  For someone.  Cause we ALL need it.

 

Life begins… at the edge of your comfort zone…

 

Roller Coasters

Nope, not us.  No way.  No how.  Terrifying.  Not going to happen.

Until last week.

Something clicked inside her head, and she decided that she had come to conquer.

There was a pit in my stomach when she first declared she was going to go on Space Mountain.  Roller Coasters have never been my thing either.

But, she even decided who was going to sit in front of her and behind her.  No getting out of it for me.

She told me that she had been through a lot in her life.  And that she shouldn’t be scared of a ride.  True.  There was that quote by Eleanor Roosevelt we had read, and referred to so many times.

No not the other quote, “The only thing we have to fear is fear itself.” – FDR

This one, “You gain strength, courage and confidence by every experience in which you really stop to look fear in the face. You are able to say to yourself, ‘I have lived through this horror. I can take the next thing that comes along.’ You must do the thing you think you cannot do.” – Eleanor Roosevelt

The first time we were both a little scared.  Then there was the second time.  And by the third time she owned it.

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_DSC2818“Rocking Roller Coaster!” she declared.
And so we headed to the Aerosmith ride that wasn’t even on the consideration list a year ago.  Twice.  I went too.  And I really didn’t mind.

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“Life begins at the edge of your comfort zone…”  Words I am learning to be truer each day.

And so in the week that was, we rode Space Mountain, Aerosmith, Big Thunder Mountain, Seven Dwarfs Mine Train, Test Track and even the Barn Stormer together.  I did Star Tours too, but virtual reality isn’t really agreeing with me anymore.  Maybe too much reality?

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So she went on Mission Space with her Dad – twice.  Once on the beginner level, then on the advanced.  And they rode Splash Mountain too – just because.

It makes me happy to see her conquering fears.  There are so few of them, that I am hopeful nothing like a roller coaster ever stands in her way.

And as I reflected on the idea that this kid, this amazing kid had brought me past a fear that had plagued me for decades, I found myself hopeful that she will always dance…

“Never settle for the path of least resistance… I hope you dance…”

“I Hope You Dance” – Lee Ann Womack

I hope you never lose your sense of wonder,
You get your fill to eat but always keep that hunger,
May you never take one single breath for granted,
GOD forbid love ever leave you empty handed,
I hope you still feel small when you stand beside the ocean,
Whenever one door closes I hope one more opens,
Promise me that you’ll give faith a fighting chance,
And when you get the choice to sit it out or dance.I hope you dance….I hope you dance.