It’s possible…

It is possible to have conflicting emotions and have them all be true.

It is possible to feel so tired you wonder how you will function, and simultaneously grateful for the very things that made you so tired.

It is possible to be full of angst about a schedule that just will not quit, and fully excited that your child is capable of outrunning you.  Finally.  I waited a long time to be more wiped out than she is!

It is possible to feel worried about this week’s pending orthopedic appointment and the news it may bring, while gratefully celebrating your child’s swimming medals from the week before.

It is possible to have anxiety about when the next surgical procedure will come, while gleefully extending the number of days it’s been since the last one to record setting lengths.

It is possible to have a deep unshakable sadness on certain days, months or even seasons, while still appreciating the best daughter and husband ever.

It is possible to feel like having and loving someone with a chronic illness leaves you in shackles, while every day being grateful for them and  time you have to hug each other.

It is possible to live with people who literally complete your soul, and still sometimes need time with other people.  Just because.

It is possible to feel lonely in a full house by the design of your own head and not the people in it.

It is possible to be a pit bull advocate for your child, while wishing you could be a happy yellow lab and get the same results.

It is possible to really want to spend time with friends, but to posture as if you’re too busy so as to protect yourself from inevitable schedule changes and conflicts without having to say “no” again and again.

It is possible to want to talk, but to realize you haven’t much to say that isn’t about topics too tough for casual conversation. (Note to self – try to watch more TV.)

It is possible to have such a deep understanding of the rare disease plaguing you and your child that you are sometimes terrified of the path you will need to travel.  It is possible to be terrified, while full of gratitude for the warning system and vigilance that will allow that path to be long – together.

It is possible to know the road in front of you is still arduous while looking back and simply saying, “Wow, we’ve come SO FAR!”

It is possible to fully understand the reality that life is uncertain for EVERYONE, while processing the gravity of a rare, cancer causing genetic disorder.

It is possible to love the ones your with, while still deeply missing so many of the ones that have gone before, some even decades before.

It is possible the mail order pharmacy uses a dart board to determine their policies each time you call.

It is possible the hospital actually does have BOTH insurance cards in the computer in the right order, and they are just messing with you.

It is possible that the china closet may just not get cleaned and washed for the holidays, and that for the first time you may just be ok with it.

It is possible that the entire holiday shopping list will be handled on line, because those are the hours that work for me.

It is possible that some days, weeks, and months leave you with more conflicted feelings than others.

It is possible because I live it.

And it doesn’t have to make sense to anyone else.

Today it’s really just about my own brain.

And those are my random thoughts…

#beatingcowdens

#thisisfortyfive

 

 

 

(Living) “In Prep for the Climb” – PTEN Awareness Day 10/23/18

I’m aware of Breast Cancer.  As a survivor now of 6 years and the daughter of a 21 year survivor, I am aware as I dry from my shower facing my mastectomy scars every morning, that breast cancer is reality.  As my Facebook feed and my memory are both too full of those we have lost and those who still face this disease, we are aware.  What I wonder, is how much help is the awareness?  It is a topic that could be debated forever, but I’ll change gears first.

Something else I am very aware of is the PTEN gene located on chromosome 10q23, and the perils its associated mutations can cause.  So when the PTEN Foundation let us know that 10/23 was designated PTEN Awareness Day, we were all in.

This blog has, for years been designated to the ups and downs of this mother- daughter duo dealing with Cowden’s Syndrome, the diagnosis we both received in late 2011 after a PTEN mutation was first diagnosed in Meghan, and weeks later in me.

The few years following were an absolute whirlwind of appointments, scans, screenings and surgeries.  We worked to keep our heads above water and just exist.  We considered keeping my job, and maintaining honors status in her school quite the accomplishment.

We were told things over and over, like “don’t let it define you…”

I’ve got some news for you.  You can only walk so far into the fire without retaining the scars.

True awareness of PTEN for us comes with comprehension of the gravity that you have to remain in a vigilant stance of preparation, awaiting attack from your own body at all times.  PTEN patients have ridiculous cancer risks pretty much all throughout, and the VIGILANCE required to stay ahead is utterly grueling.

We are faced with choices to keep the most high risk organs, or remove them prophylactic ally.  We are asked to play the odds.  With our bodies. All the time.

With Meghan the AVM (Arteriovenous Malformation) in her right knee, though quiet now, has caused damage she will deal with forever.  She is 15.  God willing she will walk on those legs another 80 years, each day aware of the pain, and of the symmetry removed from her body forever.

When you have to be vigilant, you have to plan.  There are trades.  You have to decide if you’ll miss school with friends and fall behind in classes or give up the breaks designed to recharge you.

There are no breaks.  February – months away has 3/5 of its break and 2 other days devoted to appointments.  Martin Luther King Jr. Day in January.  Yep – that one too.  Don’t worry, the brain MRI is scheduled for April break….

You have to pick and choose.  And the decisions are hard.  You want to give it all to everything, but HOURS of your world are wasted in bumper to bumper traffic, waiting for the hopeful news that you have another 6 months before you come back.  And if, in fact you don’t get that news the schedule is tossed and it’s game on for scans, analysis and biopsies.

The pain.  No one can really tell us yet from why, but it seems to exist throughout.  The fatigue.  Maybe the thyroid issues, maybe some immunological stuff.  Maybe some connection yet to be determined.  But it’s real.

It’s as real as the number of times we had to decline invitations before most people stopped asking.

We’re not blowing you off.  We’re holding it together – by a shoestring.

Chronic Illness is hard to live, and we get that it’s difficult to watch.  But, it’s real.  And short of a cure, it will never “run it’s course.”  It will not BE us, but it will be PART of us – FOREVER.

“You don’t look sick…”

“You don’t look anxious…”

No, as a matter of fact she looks strong and determined.  She’s been practicing for quite some time.

Sometimes I have to bite my tongue to keep from replying, “You don’t LOOK ignorant either – but at least you can fix that if you WANT to…”

Our rare disease journey has opened our eyes to not only PTEN disorders, but “Lhermitte-Duclos disease,” “Nail-Patella Syndrome,” “Lynch Syndrome,” “Spinal Muscular Atrophy,” “Muscular Dystrophy,” “Neimann- Pic Disease,” ” Neurofibromatosis,” “Acute Myeloid Leukemia” to name just the very tip of the iceberg.  I am more aware than every that everyone struggles.

I’m also a big fan of real pure awareness, for the sake of learning something about other humans I share the planet with.

One of the humans I share my home with has grown up in a totally different direction courtesy of this disease.  And while I am grateful for her diagnosis, as it surely saved my own life, I am sad that she has had to see so much, and manage so much already in her life.

So today, on 10/23, if you’re not living with it yourself, direct yourself to http://www.PTENFoundation.org, or the PTEN Facebook Page and learn an little more about PTEN.

My own girl is working every day to make herself better, physically, mentally and emotionally.  When I have down days, or I just don’t feel well, she reminds me to forgive myself.  “You have it too Mom.”  Indeed I do, and it’s quite a ride…

“Prep for the Climb” Disney’s Hollywood Studios

Together we prepare for the climb each day – and seek out that ‘One Perfect Moment’

For as much as this disease has taken, I am grateful that she is starting to take back control, and is finding her voice as an advocate for herself and others.  (And I love listening to her sing too…)

#Beatingcowdens

Bring It On the Musical – One Perfect Moment Lyrics
2012 Broadway
Bring It On the Musical – One Perfect Moment Lyrics
I’m not freaking out, I’m really okay
I’m totally chill or I will be someday
‘Cause I’m so near the top but there’s so many mountains to climb
There are plans to be planned, drills to be drilled
‘Cause this dream that I’ve dreamed is becoming fulfilled
And I plan to enjoy it but right now, I don’t have the timeFade in on Campbell, an average teenager almost grown
Close-up on average grades from the average life she’s known
Now zoom in the lens on the rest of her friends as she stay alone
Doing the work, getting it right

‘Cause I know we’ll have to be practically perfect
So I’ll go above and beyond and pull through, this I can do
All that I’m asking is one perfect moment in time

I’m seventeen, there are so many things that I can’t control
If I start to freak, or feel weak, I focus on just one goal
Turn down the panic, attack this routine like it owns my soul
Turn up the music so loud that it swallows us whole
And then there we are, we burn like a star
We’re safe inside the world we know
Then suddenly I’m in prep for the climb and here I go
High in the air, there is a moment just before you start to fall
Live in that one moment

I know that if I can just stick the landing
Then I’ll know that somehow my life will be fine
And I’ll go through the rest of my life understanding
What it feels like to shine
The future’s full of mysteries
So please let this be mine
My one perfect moment in time

When you reach the end of your rope…


There is no other choice really.  We must hang on.  We must always hang on.

So often this is easier said than done.

Last weekend I stayed up all night Saturday digging out from under a pile of nonsense on my desk.  It was regular stuff that I had let pile up.  It was junk.  And it was medical bills.

There were 7.  Not explanations of benefits, but actual bills.

I am fortunate to be fully capable of paying my medical bills.  The part that is so often a struggle is sorting out WHICH bills NEED to be paid.  Between Meghan and I we are at at LEAST 2 appointments a week.  And that is a really good week.  Some are close, and some are far, but they are still blocks in our daily calendar.

I try to remain very organized about where we were on which day – but it is a formidable task that sometimes gets away from me.  Both of our insurance companies have moved to electronic storage of claim status, which is really helpful.  Except for my husband’s, my secondary, which won’t allow me access to my records, in some twisted HIPPA attempt to protect me.

But, I digress.  It was about 5 AM on Sunday and I was tired but pleased.  I had pared down the pile and was left staring at these bills.  I sorted, cross referenced the bills to processed claims, and printed what was necessary.  Only one of the 7 was for something I actually owed.  The others were clipped with notes to assist me when I got around to teaching people how to do their job billing when there are two insurances.  When I could combine the energy with time to spend on the phone, during business hours, while working a full-time job.

I was ready to leave for the grocery store by 6:30 AM.  I am grateful for the stamina that allows me to pull that off every once in a while.

I got to thinking about it though, and its been on my mind all week.

We seem to have a good handle on #beatingcowdens.  But, really the day-to-day living with it is not for the faint of heart.  It is that day-to-day that is wearing on me.

We are, my daughter and I, the “healthiest looking sick people” you’d ever want to meet.  I am grateful.  I am lonely.  I am tired.

One thing blurs into another.  Someone asked me how I was spending my weekend, and I replied, “trying to return to zero.”  I think she thought I was nuts.  I have long passed hope of relaxation or socialization.  The schedule is so insane that the weekends are for getting it all re-set.

It’s not all bad.  Some of it is swim practice and theater- normal teenage runs.  I don’t mind those.

And even though our physical therapist, and our chiropractor are lovely, I would prefer to meet them for a social call than so often at their offices.  The orthopedist is a delight.  So smart, and so personable.  Yet- visits every three months I could do without.

Every step seems hard.  I have the unshakable sense that not many people do their job with integrity or pride.  There is so much energy getting through each day, that the residual battles over copays and forms can sometimes be too much.

It seems that any variation to the tightly planned schedule which balances practice and appointments (often layering many things into one day at precise intervals) sets off a chain reaction that is hard to recover from.

Which brings me to the problem of when things go off track completely.

The ‘Lymphangiomas’ on my spleen were first found in 2012 after my diagnosis.  They were an incidental finding during the many screenings I underwent during that time frame.  They were to be monitored via ultrasound.

They grew.  A bunch.  And they keep right on growing.  Annual ultrasound monitors their measurements.  Currently there are at least 4 of them and they are bigger than the spleen itself.

You may not remember, but in November I drove myself to the Emergency Room when I was concerned about this very same spleen. November Post- “You Might Have Cowden’s Syndrome if…”

It held on then, and I was released.

The most recent ultrasound was in April.  One of those lymphangiomas grew a centimeter in 2 of three directions.  That’s quite a bit of growth.

They are benign.  They are vascular.  They are growing.  I am not.  We are battling for space.  I am stalling on the inevitable.

I know exactly where my spleen is.  I can trace it at all times.  It is not painful, but really annoying.  I’m trying not to let it bother me.  Its kind of like a friend who will soon be moving away, forever.  I will miss it when its gone.

I’m used to surgeries that send me on my way in hours.  This one seems a little more dicey.

The oncologist said, “It’s not cancer, so we’ll deal with it when you’re symptomatic…”

This week I met a new primary care doctor.  She was fine.  I’ll need her for pre operative clearance.  Lesson learned during the February surgery debacle was to have a “primary” available.  I have a great deal to teach her.  Maybe she will want to learn.  At least she will be able to complete necessary paperwork so someone can check their boxes.

Checkbox with green tick

She examined me, and then the area where my spleen is housed.  She was confused as to why it is still in my body.

She had a suggestion for a doctor.  I asked if she knew a surgeon.  Her plan was to send me to a gastroenterologist to see who he thought I should go see.

Like I said, she’s got a lot to learn, and we don’t have time for unnecessary stops.

I found the surgeon I want to meet.  I read all about 15 surgeons from 4 hospitals.  I want  to try him first.

I sent an email to my oncologist to see who she recommends.  Not only was I not thrilled, I was more sure that I want to meet the one I picked out.

Last week the hospital that manages my care wanted me to see a genetic oncologist.  I called for an appointment.  They wanted my genetic testing.  Then they told me I would see a counselor first.  I explained there was no way I was spending time with someone who knew less about my disease than me so they could tell me about the effects of the diagnosis.

Nope.  Double mastectomy.  Hysterectomy.  About ready to lose my spleen.  Kid with 18 surgeries.  I’ve got this.  It’s relentless.  I know.  And I have no time to be told again.

So, the appointment I was requesting was with the “director” and there are “steps”.

Not to sound too arrogant, but I don’t need anyone I have to jump through hoops for.

I sent an appointment request on-line to the surgeon I want to meet.  He deals with abdominal tumors all the time.  Of course, not splenic lymphangiomas, being that this article says there are only 189 cases from 1939-2010! But, he spends his life operating in that area.  He’ll be my guy.

From – http://www.archivesofpathology.org/doi/full/10.5858/arpa.2013-0656-RS?code=coap-site

And if he’s not – I’ll find another.

I’m not sure when, but I know in my heart it’s not if anymore.  This has been the long goodbye for my spleen.

Now the plan is to get it all set up on my terms before it becomes a medical emergency.

Game on.

Tick tock.

I’ve got a really strong knot at the end of my rope.  I’ll climb back up.  Until then, I’ll just hang out right here…

#beatingcowdens

 

 

Rare Disease Day 2018

I took today off from work.

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

Today was doctor day.

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

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

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

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

Rare is defined by Dictionary.com as:

adjectiverarer, rarest.

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

a rare disease; His visits are rare occasions.

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

Lighthouses are rare on that part of the coast.

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

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

4. unusually great:

a rare display of courage.

5. unusually excellent; admirable; fine:

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

Synonyms for rare

adj exceptional, infrequent

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

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

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

Yet, these words also mean RARE.

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

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

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

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

I’m not hopeful.

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

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

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

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

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

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

But, and internist?  I asked again.

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

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

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

I got my blood drawn at the hospital lab.

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

RARE isn’t just snowflakes and unicorns.

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

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

We are scared of things we don’t understand.

Right now, RARE is a bit of a loner.

We are all RARE in some way.

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

The choice comes in what we make of it.

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

RARE does not give up.  Ever.

#beatingcowdens

Sometimes GOOD Things Do Happen…

Sometimes really GOOD things happen.  And when they do it is just such a jubilant feeling of gratitude and relief.

In October I wrote at length about Meghan’s struggle with PTSD and anxiety.  I wrote in the blog linked below about our commitment to obtain a service dog.

A blog outlining Meghan’s journey towards a service dog.

When we made this commitment it came with an enormous price tag.  It came after two of her doctors strongly encouraged the decision.  It also came with a determined sense of urgency that we would do whatever was necessary to make this a reality for her.

After searching, we interviewed with, and contracted with Medical Mutts.  We were drawn here because of their commitment to rescue their service dogs.  We currently love 2 rescues, and a third spent several wonderful years as a key part of our family.  We believe strongly in their mission.  We put the deposit for the dog on our credit card, a total leap of faith that was so necessary at that moment when she needed HOPE.

Meghan had weighed out the pros and cons of a service animal.  She had overwhelmingly decided on the pros.  And, while we know there will be bumps in the road, her father and I trust her instincts.

The wait time for a dog can be a year.  We had to get her into the system.

Then we paused and wondered how on earth we were going to manage the cost of obtaining a fully trained service dog from Indiana, with costs including a week of lost wages, air fare, hotel, and food while we were there.  We knew we needed help.

We reached out to local charities and were directed first to ECHO –Emergency Children’s Help Organization  

Previously, I had an idea they existed, but I had no idea we would ever need to ask them for help.  The whole act of asking for help is humbling.  But, if anything can humble you, it is the desire to provide your child with what she needs.

When I spoke to Gina she was friendly, helpful and calm.  She spent so many different sessions on the phone with me as I drove her wild with questions.  The application was intense and comprehensive, but I understood why.

With time and patience I was able to deliver her a completed application close to the end of November.  When I submitted the application, I had complied a list of other places we would apply to once they decided if they were going to grant us money.  I had never done anything like this before.

Through the process I was able to compile a history of Meghan’s charity work around the community.  I was proud to be able to attach a document detailing her work.

The executive board at ECHO was presented with Meghan’s case awarded her a grant that exceeded my wildest hopes and dreams.  With one phone call Gina was able to tell me that the balance of the dog would be paid in full, and there would be stipends for the travel to Indiana, the lodging, the transportation and the food.  In short, we were told to focus on Meghan.  The financial burden of the dog she needs so desperately had been lifted.

I have no doubt that Meghan, once she feels well again, will return to the charitable end of things, fundraising for PTEN disorders, and for those less fortunate.  It is part of her heart.

Right now, we have HOPE to carry us through some difficult times.  We have HOPE and eager anticipation for a dog that will become her best friend.

HOPE right now is spelled ECHO.

Please, if you’re inclined to support a quality organization – visit their website and consider a donation.

Emergency Children’s Help Organization – Donation Page

We will wait for the new dog anxiously in HOPE and GRATITUDE.

Forever,

#beatingcowdens

More questions than answers…

 

I haven’t written regularly and it is wearing on me.  I keep putting things in front, waiting to be ready, to be finished so I can focus.  Except life is really busy.  And it keeps getting busier.  So, while I’m really dating myself…


While I will never ever possess even a fraction of Ferris Bueller’s 1980s spontaneity, I am constantly working on this reminder.  I’m a work in progress.

Today we stopped.  We sat together.  We watched a movie.  We enjoyed each other.  It was fun.  I need to remember to do it more often.

I find myself struggling to keep the story together, while respecting the privacy (she does preread every post before they publish) of my teenager, and maintaining the authenticity of this journey we are on together.

I always try to be positive, and to put a positive spin on everything.  It’s how I cope.  It’s how I press on.  But, it is the same reason it’s been so hard to write.

The cold hard reality is that even when we are conscious of our many blessings, sometimes having a rare disease, THIS rare disease, really just sucks.  And, as much as you work to not have it define you, it becomes so intertwined with who you are, that it can become difficult to tease the two apart.  In the 6 years since our diagnoses she’s, gone from 3rd to 9th grade.  Those are some pretty formative years.

The struggle to stand apart from the disease that takes so much of your time and energy is real.  As a teen the level of self-awareness is naturally high.  The fear of judgment is one we can all remember.  The desire to stand alone, stand apart, and fit in, while not compromising yourself is one I remember as if it were yesterday.

My girl is strong.  She is physically strong, as she recovers from countless surgeries, and fights her way back into the pool time and time again.  She endures physical therapy.  She navigates countless flights of stairs, and is constantly challenging herself to do more.

She is mentally strong.  She has a work ethic that is impressive, and grades to back it up.  She reads.  She questions.  She thinks.

She is morally strong.  She has ethics that often impress me, and she will not step away from who she is, even for a moment.

She is emotionally strong.  She refuses to stay down, no matter what life tosses at her.  She handles stress, disappointment, and struggle, with a poise many adults I know are lacking.

She is strong.  I know she is strong.  Anyone lucky enough to meet her knows she is strong.

She also suffers with PTSD, and severe anxiety.

I see no conflict between her being strong, and suffering.

I watch the age of diagnosis for PTEN mutations getting younger.  I see in this blessing and curse.  It is a wonderful thing to have the mechanism by which we can survey and protect.  It is also a difficult thing for an intelligent child to have to shoulder.

Clearly, her PTSD is PTEN related.  There are only so many surgeries, hospital stays, IVs, blood draws, MRIs and other medical dramas one can face before memories are haunting.

The anxiety- we’re working on it.

I have some theories.  And I will press until every one of them is shot down, or validated.  Her history indicates that she has always had some metabolic issues.  Some were first addressed by an alternative medicine doctor beginning when she was 2.  I watched things resolve that I thought could never get better.

When her thyroid was removed in 5th grade, just shy of 4 years ago.  I knew then it was not a good time.  I also knew it was not our choice, as the recent biopsy result with 19 nodules, 5 of them suspicious for malignancy, prompted the endocrinologist at the major cancer center to force the total removal.

Fortunately, it was a benign thyroid.  However, that thyroid, no longer in her, now needed to be replaced synthetically.

I was 20 when I lost half of my thyroid.  That was hard.  This, well, it was just unimaginable. Because, anyone who understates the importance of the thyroid for every single function in the body, in my opinion is under-informed.  The endocrinologists are trained to look for one number on a piece of paper and make every decision based off of that number.  Except, we are people.  We are individuals.  We are not numbers.

It took just shy of 2 years before even that number, the TSH (Thyroid Stimulating Hormone – which by definition should not IMO be the “go to” number in someone with NO thyroid to stimulate) stabilized.  It also required a change of endocrinologists to get one to listen to me practically scream that her body was not converting the synthetic T4 to T3.  I may not have been a good chemistry student, and I may not fully understand WHY she does not process synthetic anything very well, but I confidently know it to be true.  This new endocrinologist was willing to give a low dose of T3 a try alongside the T4.  Finally the “magic” number stabilized.

Looking back I believe I was lulled into a false sense of security.

There was so much going on those years.  Middle school is tough for every student.  Factor in 7 surgeries in 3 years and its easy to see where things got complicated.

Looking back again, maybe I should have seen or thought… but there really was no time.

Excessive menstrual bleeding – nonstop for months, led us to an adolescent gynecologist.  That led us to a pelvic ultrasound, which subsequently led to a finding of “abnormally thickened uterine lining.”  The D&C pathology showed cellular irregularities, highly unlikely in her then 12 year old body.  But, we live as the “highly unlikely.”

Even as we were nudged towards hormones, I should have seen.  But, it’s easier to see in reverse.

The need for hormones to thin the uterine lining was non-negotiable I was told.  The IUD was an unacceptable solution to both of us.  So, she was given progesterone.

The medication is pure evil, I am convinced.  She handed me the pill bottle one morning and told me to get rid of it.  She was done with it.  I shudder at what could have become of things if she did not possess the inner strength I spoke of earlier.  Her level of self-awareness is eerie at times.  I am grateful.

So, we went a while with nothing.  And the body began to act up again.  This summer we agreed to try a birth control pill.  And, still, several changes later, things are not where they should be.

Most doctors want to make all sorts of sweeping generalizations.  They want to put everyone in a neat box.  Life is messy.  Rare disease life is RARE by definition.  When you are 1 in 250,000 you just don’t fit in the box.

I first noticed the anxiety increasing in middle school.

“Middle school is hard for everyone…”

The PTSD diagnosis finally came in May of this year.  But, I knew even then it wasn’t the whole picture.

This summer we almost cancelled Disney.  The pain from her periods had become intolerable, totally crippling her.  I called the gynecologist in desperation.  She was glad to hear me finally agree to the birth control pill.  I was desperate and hesitant, the progesterone nightmare was not lost on me.  It was the classic “rock and a hard place” story.

High School started out a little tumultuous.  The school she thought she’d attend underwent major changes over the summer.  She ended up relocating a few days into the school year.  But, she loves the new school.  The kids are nice.  She has more good teachers this semester than in 3 years of middle school.  The high school swim team was strong.  So why was the anxiety quickly melting into full scale panic attacks?

She works so hard to keep it all together.  She tries to keep it hidden.  She is so aware.

The panic settled back into general anxiety, but that anxiety spread to just about everything.

In December I adjusted my work day through FMLA to be able to pick her up at the end of every school day.  We spent a lot of time working through so much.

And somewhere in the middle of working through all of this, as people were so quick to offer medication for anxiety, I had some thoughts.

Why had the gynecologist and the endocrinologist NEVER spoken about interactions between their respective medications when both were prescribing hormones?

Simply because her lab tests for thyroid function remain in the laboratory range, there was never a question.  No one noticed this actual human being in front of me is struggling.

Why are we so quick to write off the unusual as impossible?

Why won’t we try anything to keep a bright, articulate, in touch 14 year old OFF as many medications as possible?

What if her T4 to T3 conversion, which was always a problem, was masked and not solved by adding a synthetic T3?  What if this anxiety has been building for all these years, and exploded at the insult of additional, yet necessary synthetic hormones?  What if the answer is harder than adding more medication?  What if it will take research, theories, and some “out of the box” thinking?

How do I convince them she’s worth it?

While my PTEN Facebook friends are sending me article links, I am composing my thoughts before writing a more organized, clinical version of these questions to her doctors.

All of this while seemingly insignificant head congestion is cramping her style.  I am not sure exactly where it fits in.

The ENT ordered an MRI of the brain to check the sinuses.  Turns out the sinuses are clear.  Except there was an incidental finding of a brain lesion 9.5mm of undetermined significance.  The new neurologist is confident its not a problem, but we’ll have a follow up MRI on February 20th.

In the mean time – no one will touch the congestion other than to tell her it’s “anxiety.”

She deserves better.

So, we will press on.

One year ends and another begins.  We’ve grown, we’ve learned, we’ve laughed, we’ve cried.  Yet still there are more questions than answers.

I have a feeling that’s pretty much how it will be.

This is life

#beatingcowdens

 

 

 

Middle School is Hard

Middle School is hard.

If you’ve ever had a middle school student in your world, you know what I mean.  Like everything in life, the feelings are different for each of them, but if you’ve recently had someone pass through 6th, 7th, or 8th grade, you have undoubtedly  been with them through some trying times.

And that’s without factoring in the Cowden’s Syndrome.  Middle School saw 7 surgeries in 3 years.  It started with a broken foot and ended with Graduation on crutches for some extreme, and as of yet, unexplained knee swelling.

It also culminated with my girl as the Salutatorian of a class of close to 400.  At awards night Tuesday she received several other awards as well.  And, not a single one was connected in any way to the obstacles she overcame to get there.  It was a proud moment.  The desire of my teenager is to not ever be defined by her disease.  She wants no pity.  She’d love compassion.  Empathy, not sympathy.  She wants to achieve in spite of her obstacles and never BECAUSE of them.

As her Mom, I am insanely proud.  I am also inspired.  Every day we wake with a choice to make.  “The body achieves what the mind believes.”

Her mind believes that she will continue to overcome.  I have no doubt.  High School is on the horizon, and while I have no idea what the next few years have in store, I am confident she will continue to achieve success in all she does.

Cowden’s Syndrome messed with the wrong young lady.

The text of her speech from graduation is below:

Welcome and good evening, Mr. Mele, the administration and teachers from IS51, parents, family and guests, and most importantly, the graduating class of 2017!

 

Heh. I remember thinking to myself before I knew I’d be up here speaking to you today, “Wow, I feel sorry for the poor sap that is going to speak at graduation.” Yea, the universe has a funny sense of humor, doesn’t it? I’ve never been much of a writer, but I hope I at least don’t bore you to sleep. So, fellow classmates, here’s my attempt at leaving you with something “profound.”

 

This poem is called “The Victor.”

 

“If you think you are beaten, you are
If you think you dare not, you don’t,
If you like to win, but you think you can’t
It is almost certain you won’t.

If you think you’ll lose, you’re lost
For out of the world we find,
Success begins with a fellow’s will
It’s all in the state of mind.

If you think you are outclassed, you are
You’ve got to think high to rise,
You’ve got to be sure of yourself before
You can ever win a prize.

Life’s battles don’t always go
To the stronger or faster man,
But soon or late the man who wins
Is the man WHO THINKS HE CAN!”

 

Walter D. Wintle

 

Smart man.  

 

As I stand here today getting ready for all of us to move on to high school, I’ll say Congratulations! We’re done!

 

You might expect me to reminiscine about all the amazing memories I have of the last three years of middle school. While there were some good times, I’m not going to lie, middle school was three of the most difficult years of my life so far, and I’m sure I’m not the only one who shares that sentiment.

 

Middle school is hard, and some times can be super taxing. In addition to figuring out the school, the teachers, and the classwork, we have had to figure out ourselves, and each other. 

 

Let’s be real here. Bullying is a real part of these years.  Many of us have experienced it, and it hurts your self-esteem and diminishes your self worth. When people have hurt you enough, you can easily want to give up. Even if you can do it, your brain can become convinced you can’t. Therefore, you will fail. It’s cliché, but true. The body achieves what the mind believes.

 

The first step to winning, to taking that final step into your full potential, is believing in yourself.

 

That’s the trick.  The way to overcome the feelings of loneliness and isolation is to alter and control your state of mind. Your state of mind, and hard work, together form the key to accomplish your goals.

 

Now, while I’m here talking to you about a “winning state of mind.” I’d just like to put the disclaimer out there that I haven’t even close to succeeded in this mentality yet. But, I’m working on it. It’s hard. But, most things that are worth it are hard.

 

I once had a friend tell me something at one of our swim meets that I’ll never forget.  She said to me, “Stop. Breathe. Focus.”  Since I respect her ability in our sport so much, I shut up, and listened. It was one of the best things I ever did and it worked.

 

You see, I’m not talking to you about nonsense. As you head off into your high school, wherever it may be, you are likely to be at least a little nervous.  Remember, that your mind is extremely complex, and it controls and affects more than we could ever realize.

 

So, if you find yourself feeling like you’re not good enough.  If you find yourself worrying too much about what others think of you, or if you find yourself feeling like you are destined to fail, remember to “Stop. Breathe. Focus.”  You are enough just the way you are.  And, don’t worry, I’ll be standing in the halls of Port trying to take my own advice.

 

                                                    

Thank you, and once again, congratulations to the graduates.

 

#beatingcowdens