Tag: physical therapy

Show Up

Published on by beatingcowdens4 Comments

It was three MRIs in two days that week in November.  That’s too many, in case you were wondering.

One was an extension of an August MRI, which had been a knee follow up.  If you’ve been following – you know that long story.  If you’re new, the AVM (Arteriovenous Malformation) she was likely born with in her right knee, has cost her 8 trips to the OR so far.  It requires frequent attention.

By frequent I mean we see the orthopedist more often than we see most family.  And this time the whole muscle band up her thigh had been acting odd.  So we reached out to the orthopedist who asked for an MRI of the right thigh before we saw him at 1 PM that Tuesday.

By “odd” I actually mean really painful.  Pretty much all the time.  Painful enough that walking long distances or kicking swim practice got hard to maintain.  But there is so much that hurts it’s hard to sort out where something stops and other things start.  The hip had been “out” more than in, and even the chiropractor could not sort out why.  The knee pain was persistent enough to leave her wondering if something was wrong again.  The shooting pain, tingling and occasional numbness left her wondering if a nerve was somehow damaged.

Turns out, in typical form, she was right pretty much all around.  This kid has an uncanny awareness of her body.

The doctor’s student came in first not far past 1PM.  The MRI results were up, and he mentioned the AVM.  We said, “In her knee?”  When he said no, and mentioned one higher up in her leg, I pulled the plug on his practicing and sent for her actual doctor.  Turns out the thigh MRI showed a vascular malformation in the back of her right thigh.  It was somewhere in between the muscle and the bone, and adjacent to the sciatic nerve. When the images changed you could actually see the proximity to the nerve.

Hip issues – check

Knee pain- check

Shooting (nerve) pain-check

So he asked for an MRI with contrast of the pelvis.  “Sooner rather than later.”

But then he had to address the issue that had been of greatest concern walking in the door.

The right shoulder had been presenting an escalating problem all during the fall swim season.  She is a powerhouse my kid.  She pushes through because she knows nothing else. The awareness that the Hypermobile Ehlers Danlos diagnosis added on in July could at least explain the frequent partial dislocations was little comfort to the body that was living with them.  A thorough examination of a shoulder with extremely limited range of motion left us with orders for an MRI arthogram of the right shoulder.  It was time to rule out a rotator cuff tear.  We left with both MRI orders, and scripts for muscle relaxant and pain meds.  We were told to try to get it done by Thursday.  Yep 48 hours.

Thankfully Meghan’s insurance, which is the same as my husbands, (insurance coverage and coordination of benefits could take another post, so just trust me) does not require prior authorization for MRI testing.

So I got on the phone with scheduling and secured an appointment at the same facility we had been at at 11 AM for 3:30 PM.  That ended up being the pelvic MRI with contrast, something we avoid until we are confident something is there.  IV in place, back in the tube for another 45 minutes.

We were able to schedule the arthogram for 8AM the next morning in Brooklyn. But, not before learning that an arthogram was a pretty awful test.  As I had tried to barter for a time that would not take her out of school three days in a row, I was told that the doctor had to be on site.  I was asking for a quick schedule and I had to take what was available.  I was wondering why a doctor had to be on site, but my girl found the answers first.

And as we contemplated the test we sat in two hours of traffic to make the 32 mile trip home.

The next morning we were met by a well meaning tech in a Brooklyn office who thought my girl was going to have the catheter placed without me. You can say all the rational things you want about her being almost an adult. But PTSD is very real.  No matter how smart and articulate she is.  It is flat out real.  And that was about as huge a trigger as there is.  So I got a vest, signed consent for whatever I was about to be exposed to and held her hand while she screamed in pain.  The catheter was placed.  The contrast was injected, and we were back to another 45 minuted in the tube.

The appointment at 1 the next day was overwhelming to say the least.  The pain, the anxiety and the exhaustion were palpable.  The news that there was no rotator cuff tear was met with simultaneous relief and exasperation.  And if you don’t quite understand that it is probably because you have not lived with daily pain so intense you would give just about anything to hear that it was fixable.

Our orthopedist is nothing short of amazing, and he was able to explain to her that it was likely that repetitive partial subluxations caused muscle spasms that left the shoulder sitting just out of place enough that it was incredibly painful.  And because the muscles were in almost a constant spasm she couldn’t get it back “in.”  He explained the strength of her back and how some muscles are overpowering others.  He broke down the directions for PT.  He pulled her from the water for 7 days.  He started a muscle relaxant 3 times a day.

Then, he had to explain to her that we should head back to Lennox Hill Hospital to see the interventional radiologist who dealt with her prior AVM.  It had been three years since we had seen him, in hopes we were done for good.  The placement of this “small” AVM (and think relative here, does a splinter hurt?  Yep.  So a grape hanging out somewhere in between the bone, muscle and nerve probably would too.) was difficult from an ortho standpoint.  He felt that embolization, closing off the blood supply to the malformation, would give a quicker recovery than trying to dig it out.

We had an appointment on December 2nd at Lennox Hill.  Just enough time to let the muscle relaxants start to kick in, PT to begin, and the shoulder to start moving slowly and painfully.

The doctor looked at the scans, did his own ultrasound and told us to schedule the procedure.  We left with a date of Tuesday, December 17th for an outpatient procedure.

The date was carefully chosen by my girl.  The 17th meant she’d miss only 4 days of school, and for a junior with a rigorous schedule and a 4.0 that mattered.

Also, the 17th meant she could go to Lancaster, PA the weekend prior to compete in a qualifying swim meet she had worked for years to make.  She had been looking at this meet since she began swimming years prior.  When she made her first, second, and third cuts over the months leading up to it, she was ecstatic.  Now, she was facing this meet with a different set of eyes.  The training interruptions caused by her shoulder meant she was unlikely to attain any best times.  However her gentle giant of a coach reassured her she should go for the experience.

And it certainly was an experience!   We left for home Sunday the 15th with the coach’s approval of three good swims.  She knew it was the last time she’d be in the water for a bit.

We left home Tuesday the 17th for at 8 for a 10 AM arrival.  This was surgery 19.  We knew the routine.  She had had nothing to eat or drink since 9 the night before.  The wait was long.  It was after 2 when we were waiting to leave her in the OR.  And as we were leaving the team made a last minute change that they would do the procedure on her stomach.  That meant a more aggressive anesthesia and an overnight stay which we were not prepared for.

We were placed in luxury accommodations, better than most hotels I’ve stayed in, because pediatrics was overbooked.  We ended up in the executive suite.  With nothing we needed.  Felix headed home on the bus to gather supplies.  He then drove back to the city and met me at the door to the hospital before heading home for the night.

I was glad we stayed.  The pain needed hospital level management.  The pain medication allowed for some brief silly time.  She was discharged around noon the next day.

As I went to gather the car from the lot I was prepared for the hefty overnight fee, but not for the giant scrapes along my right rear panel. Clearly my car had been hit, hard.  The bumper clip was broken.  I had just enough time to file a claim with the garage before she let me know the transporter had her in the main lobby.

I settled her into the car in terror because she could not get a seatbelt on.  I prayed so hard during that white knuckle drive down the FDR and through the tunnel.  We arrived safely home 45 minutes later where a neighbor saw us struggling and helped her up the stairs into the house.

As I write, it is the afternoon of 12/22.  If you’ve read this far you know it’s been a long month.  But the longest days came after we arrived home.

This kid is busy.  All the time.  She is at school.  She is at swim.  She is at lessons.  She is at the doctor.  She is at PT.  She is NOT used to being home.

Because I think most of us can relate that when you are still there is time to think.  And thinking is hard.  When you are still there is time to feel.  And often feeling is hard.

My girl is used to being just on the outside in most social situations.   I do not know why.  I can theorize for days, but it doesn’t matter really.  It just is.  So when you are on the edge, you get your interactions with people when you are there. When you are not there you get the often difficult to process feeling that you are not missed or your absence isn’t noteworthy.

There were some cards, and some well intentioned messages from well meaning family and friends.  They lit up her whole being.

If I’ve learned anything from watching her recover and rehab time and time again, it’s this.  When you’re not sure what to do, show up.

I don’t mean in person necessarily.  Although those visits can bring brief humor and relaxation.  The irony of this technologically connected world is that we are more distant than ever, when it is so easy to show up.

When in doubt, send a text.  There is no need for gifts or grand gestures.  Offer a face time call.  Let someone know you care, especially in the first 4 days when then pain is often the worst.  It’s ok to reach out because these phones are all on mute.  And you won’t bother someone sleeping, you will only make them smile when they wake.

Whether it’s one surgery or 31, the chronically ill patient appreciates it.

There are so many super-convenient ways to show up.

So many that we are practicing showing up more for others.  Because the world is round.  And you may not ever repay the kindness sent to you, but showing up for someone else can change everything.

#beatingcowdens and#hEDS

Don’t give up on a (limping) Zebra

Published on by beatingcowdens1 Comment

You know that person in your life.  The one who always has a dramatic tale of woe?  The one who you tire of hearing from because all they do is talk about their health?  Because honestly all that doctor talk is quite depressing.  And I mean, you hate going to the doctor.  You just went last week and they made you wait 30 minutes past your appointment.  But, you gave them a piece of your mind, and you’re just not going back.  You are way too busy anyway.  You have other things to do, and a LIFE.  So you’ll get to it when you get to it.

So, it might be a little hard for you to process that your friend doesn’t have the ability to make the same choices.  And that one doctor visit, with the 30 minute delay, they do that several times a month. A 30 minute wait is a rarity.  Typical time round trip, including traffic and wait – often 5 hours. 

And over time you might have less and less to talk about with them.  Because, they missed the party, or cancelled on dinner.  They are so dramatic.  You’ve had that wrong with you.  Sometimes you have to get up and keep moving.  They spend too much time being sad.  What “trauma” could they possibly know?

While the Zebra is the Symbol for Ehler’s Danlos Syndrome- a group of inherited connective tissue disorders- it also speaks symbolically and metaphorically to the Rare Disease Patients we encounter daily.  In our house it is PTEN Hamartoma Tumor Syndrome, or Cowden’s Syndrome, and Hypermobile Ehlers-Danlos Syndrome, for now. With over 7,000 Rare Diseases, it is not “rare” to have one.  It is rare for them to be properly diagnosed, managed, and understood.

From National Geographic  (BLUE PRINT IS CUT FROM THE ARTICLE)

https://www.nationalgeographic.com/animals/mammals/p/plains-zebra/

ABOUT THE PLAINS ZEBRA

No animal has a more distinctive coat than the zebra. Each animal’s stripes are as unique as fingerprints—no two are exactly alike—although each of the three species has its own general pattern.

No two are exactly alike…

Zebra Stripes

Why do zebras have stripes at all? Scientists aren’t sure, but many theories center on their utility as some form of camouflage. The patterns may make it difficult for predators to identify a single animal from a running herd and distort distance at dawn and dusk. Or they may dissuade insects that recognize only large areas of single-colored fur or act as a kind of natural sunscreen. Because of their uniqueness, stripes may also help zebras recognize one another.

Stripes may help them recognize each other….

Population and Herd Behavior

Zebras are social animals that spend time in herds. They graze together, primarily on grass, and even groom one another.

Plains zebras are the most common species. They live in small family groups consisting of a male (stallion), several females, and their young. These units may combine with others to form awe-inspiring herds thousands of head strong, but family members will remain close within the herd.

They can combine to form a herd, or a small group called a “dazzle.”  Seems fitting though…

I used to be social.  I mean not overly social.  I never traveled in large groups, but I used to dine out.  I used to see friends.  At least sometimes.

I learned of the old concept taught in medical school many years ago when we were starting to live this overwhelming life full time.  It goes “When you hear hoofbeats, think horses, not zebras.”  The professionals we look to have been trained to explain us away.

Our medical system is so deeply broken, that our best and brightest are in debt they can barely see past, and in shackles to the facilities they must work for, who are often managed on bottom lines and drug companies pockets as they overbook them and take away the time to look at the whole patient.  These doctors are often cognitively capable of doping their job.  They are just not allowed.

Some theories on the progression of that quote can be found clicking this link.

When You Hear Hoofbeats Look for Horses Not Zebras

But the reality is this.  We are Zebras.  In this rare disease community at large, we are a herd of them, as many as 10% of the world’s population.

( And other Rare Facts here… https://globalgenes.org/rare-facts/)

RARE Facts

And we are trying to get treated by many doctors who have been trained, for whatever the reason, to categorically deny the existence of zebras!

It’s easier to diagnose and treat a horse I suppose.  It is easier to open the text book, or the app and find the segment on their current malady, remedy it, and send them on their way.

I rarely meet a zebra who doesn’t WISH they could be a horse.  We don’t want to be hard to diagnose and treat.  But, we are.

I am currently in my 11th month treating a foot injury.

I fell at work and it was handled to the letter of the law there.

My insurance company denied the MRI I needed for my pain.  I waited and walked on it for 2 months.  When I could stand the pain no longer I received a diagnosis of a partial lisfranc tear, a zebra type of foot injury if you will.  I was put in a boot, taken out of work and rested.  Then I was taken out of the boot, not because there was proof of healing, but because I’d been in it too long.

A second opinion told me to be patient.

My local podiatrist running point on the case has been wonderful.

I have seen him every other week since March.

It hurts. Still.

I tried Physical Therapy and was sent away after 5 visits because he felt something else was wrong.

I tried ignoring the pain and walking through it.  It got so much worse.

Another visit back to the second orthopedist left me feeling like a fool as he told me it was all good.

An MRI 2 days later showed stress changes in the cuboid bone, another “zebra” foot injury.

Unfortunately, those results came my way after 6 days in Orlando.

The boot was on again.  This time with a scooter.

Another opinion and another MRI in September progressed the fracture to “non-discplaced” cuboid fracture and sentences me to another 10 weeks in the boot.

My original podiatrist, a stand up guy, suggested Hospital for Special Surgery.  He could not get another MRI approved.  My insurance had tired of me trying to get better.  He thought HSS had a better shot.

In the mean time I had to come out of the boot.  Not because the pain was better, but because there is only so long you can stay in before you have other risks.

Countless hours trying to schedule, I ended up with an appointment 10/31.  His diagnosis was made without ever having me take a step.  “You have too much pain in too many places.”  Go see pain management.  My husband strong armed him into ordering another MRI, which he did.  Except for reasons I’ll never know he ordered only the forefoot…

The results of that MRI showed swelling, chronic fracture of the sesamoid, and a neuroma(that one is fairly common) among other things.  He backpedaled a great deal when he called with those results.

My foot is in no shape to return to teaching – yet.

I went to neurology locally.  Prior to me getting my sneakers off he diagnosed me with a pain syndrome, because “it has to be.”  I did a nerve function test, was told to take a “tri-phase bone scan” and seek pain management. Again, no exam.

So, I scheduled the bone scan and started looking at pain management.  Except no one at Hospital for Special Surgery will treat me, even though their doctor was also sending me.  And the one specialist I was referred to locally does not take my insurance.  I am awaiting an answer for another suggestion.  My second call to the local office was at 9 this morning.

 

I have a ‘hail Mary’ pass going to a PT tonight who I PRAY will think he can help.

It sounds luxurious to be a zebra, right?  Spa treatments all day.  HA! Because what else would you do when you’re not at work?

It is easier to think someone is being lazy.  It is easier to think they don’t care, or they aren’t trying.  It is easier to find the green grass in someone else’s yard.

It is easy to judge.  To say someone is “taking advantage.”  It is so much easier than hearing the truth.  Often the truth is hard.  And just not as interesting.

I can assure you I have been schooled once again in the value of the lesson “Everyone has something.”

When you are rare, you are left on your own.  A lot.  Doctors will not, or can not, or are unable to troubleshoot an abnormal/multidisciplinary diagnosis.

I will wait.  I will continue to seek answers.  I will pray that all the bones in my foot stay in one piece.  Because this, this was supposed to be the “normal” injury in the house.  It was “just a fall.”

But, apparently as I’m learning, when you’re a zebra, you are a zebra through and through.

Thankful for my “dazzle…”  You know who you are.

And some days I feel like its even a little more unique…

#beatingcowdens

#hEDS

 

PTSD is real…

Published on by beatingcowdens4 Comments

I catch the judgments when I mention PTSD to even those closest to us.

I have the utmost respect for our military, and our servicemen and women.  They are the front lines, defending us and keeping us safe.  They experience horrors I could not imagine, and I am daily grateful for them.  The PTSD many suffer is real and no one would ever question it.

But, just as l know that their’s is real, I am that sure it is real in my house too.

Post Traumatic Stress Disorder does not stipulate the trauma.

Some days I try to ignore it.  I try to hide it. I try to work around it.  I try to pretend it’s not there.  I try to lean into the pressures of well-meaning friends and acquaintances alike that we should act “normal” so as not to marginalize ourselves.  I hear the logical statements about fitting in.  I hear them.

We talk about “everyone has something.”  We are acutely aware that we are not the only ones that suffer.  We are aware of our blessings.  We share those blessings with others when we can.  We listen compassionately.  We are believers in the notion that, “If we all threw our problems in a pile and saw everyone else’s, we’d grab ours  back.”

We are aware that we can be perceived as aloof, or detached, or disinterested.  We are also aware that largely by circumstances and partly by our own design, we are alone.  We haven’t really ever spoken to you about why… We try to listen compassionately.  We try to be the people you need.  We try to be lighthearted and positive when we feel like we are being crushed.

When the diagnosis of PTSD was first given to me as part of an analysis of my beautiful daughter’s response to the constant traumas that had shaped her life, I was physically ill.  And then I was really sad.

And through the years I have tried to wish it away.  I have tried to convince and cajole and distract.  I have tried to rationalize. I have tried to blame myself.  I have tried to be angry.  I have tried to pray.  I have tried to walk it off.  I have tried to medicate it.

I have brought her to quality therapy.  I have introduced medication.  We have tried strategies.  We have tried simple grit.  We have never quit.  And there is progress.  But it is not easy.

I’ve been home a few weeks now with a foot that won’t heal.  I am trying to put into play some things that have been on the back burner for too long.  I am rediscovering my faith, and leaning back into the peace that has anchored my soul for so long.  I am learning new things, like the operating system on a new computer.  I am trying to find value in the waiting to heal.

I have also had some time to watch some old home videos, transferred from the portable video camera that was state of the art when our only child was born in 2003.

I look at some of those old videos and I laugh and smile.  And I hear the purity and innocence of a life untouched by physical and emotional pain, and the cruelty of the loneliness that often surrounds both.  And I laugh in spite of myself while the tears stream down my face.

We are strong.  We are determined.  We are compassionate.  We are intense.  We expect a lot from those around us, because we expect a lot from ourselves.  We are often isolated, marginalized, and left to live on the edge of all things social.

PTSD, the elephant in every room.

You see the diagnosis of Cowden’s Syndrome was not the start of it.  The first medical intervention was before the age of 6 months…

The years of hospitalizations, immune deficiency, chronic illness, food allergies, constant GI upset, speech, OT and PT services, led right into one surgery after another, with scans, doctors visits, and a few emergency room trips sprinkled in.  There were arrogant doctors and medical staff, ignoring that we were literally walking through fire trying to survive.  There were teams that would not communicate, and problems we had to try to solve on our own.  There were well meaning people in our lives asking if she was “better” because they could handle nothing other than a positive in the midst of this crazy, wild storm we were living in.

The diagnosis at the age of eight formalized the fact that we were definitely different.  It gave an answer while raising more questions and increasing the isolation, as parents scheduled play dates with children who became friends while we rode the FDR drive for hours after a day of work and school.  They went to the mall, or to the movies while we headed to PT to bring that knee back from surgery 4,5,6,7,8….  It was inevitable that the divide would grow.

I told her she could do anything.  And I meant it. I still mean it.

She is academically rock solid.  She is an athlete.  She is a good friend to those who let her be.  She is thirsty for knowledge.  She is insatiable in her desire to make the world better.

She’s also angry.  And its hard to see it.  It’s hard to feel it, and to watch it.  But, it’s real.  And it’s valid.  As much as we were able to do for her, the basic joys of childhood were taken from her.  From colic, to hospitals, to bullying so severe it almost broke her, to being just outside the edge of every circle or group…  A week in Disney every year helps, but even the Mouse doesn’t have a bandaid big enough.

We stay busy.  It is the best way.  But sometimes it breaks down.  This has been an extra tough week.  There isn’t one reason why.  It just is sometimes.

As I sat with her the other night and the memories of the most traumatic surgery turned my strong young lady back into a terrified 10 year old, I was reminded.  PTSD is very real.

It is real when the medical world is overwhelming you.

It is real when the pain is chronic.

It is real when the thought of getting out of bed is just too much.

It is real when you need the dog close by to even close your eyes.

It is real.

It is also real when you’re the youngest NYS Woman of Achievement in 2016 at the age of 12, or being honored with a Humanitarian Award at 15.

It is real when you’re holding a 3.9 GPA.

 

It’s real when you are achieving best times at Junior Olympics.

It’s real when you’re laughing with your high school swim team.

It is real when you’re in costume on the stage.

It’s just flat out real. And most of the time you have no idea what it looks like.  The costume is better than Broadway.  The mask is strong, crafted through years of survival instinct.

It never goes away, and yet it takes over without notice at the most inconvenient times.

PTSD is not an indicator of weakness, but rather of strength.  For living with it means you could have given up, but you are pressing on instead.

I’ve passed this advice to parents through the years who are new to our diagnosis.

“It is a lot to handle.”

Don’t underestimate.

It is hard to be kind to those who are different.  It is hard to be with people who are sometimes just “a lot.”  It is hard to care.

But the reality really is you just don’t know.  You don’t know the struggles facing anyone you pass by on the street.  You have no idea.

It’s neither a contest, nor a competition.

We are not perfect.  It is harder when the hurt is in its most raw periods.

But, we have goals.  And perhaps they go back to the “Golden Rule” of my youth.  “Do unto others as you’d have them do unto you.”  

That means you keep paying it forward, without expecting it to be repaid to you.

If we all, ourselves included, can remember that everyone has real struggles, and we can all focus on kindness, I’m pretty sure we can start real change.

One smile, one inclusive invitation, one held door, one kind gesture at a time.

“Be kind always, because everyone you meet is fighting a battle you know nothing about.”

#beatingcowdens

 

 

 

Forced Pause…

Published on by beatingcowdens1 Comment

My sister had a series of hamsters when we grew up.  I don’t remember how many.  I actually don’t remember much besides the smell of the cage, and the wheel they used to run in.  They never seemed to tire of it, and each spent long periods of their day there.  Maybe it’s because they were caged with few other options.  Maybe they didn’t know any better.

Regardless, I’ve thought about those hamsters a lot lately.

I feel very much like we live on the wheel.  Every day is centered around executing a well-oiled machine where an insane amount of activities, assignments, and appointments fit into a tiny window.  So at an early hour we hop into the wheel in a sense, and we run all day.

When you’re in the wheel you may think about nothing except for the next task.  Or you may wonder if there is a better way to get through the day.  You may long for a break from the routine and the schedule.  You may wonder what you’d do if…

We are chronically busy.  Sometimes out of necessity and sometimes by design.  Sometimes, in the case of those of us with chronic illness it is a little of both.

In my house we are busily maintaining health, through frequent appointments and therapies.  We are also busy trying to fit a regular life around it.  There is constant motion.

Until there isn’t.

I spent so many moments wishing I could take things a little slower.  I wished I could have some time, for a full nights sleep, to clean my house the way I want it, to visit with friends, to take long walks, and…

And now I’m here.

A January foot injury at work has morphed into a monster that refuses to heal.  Stress and strain and alternate gait patterns protecting the original injury continue to set the healing process in the wrong direction.  A stress fracture of  the cuboid bone continued to worsen.  It’s now my first official “fracture.”

It is time for me to pause.

This time there is no rushing out of the boot.  There is no making believe its all ok.  There is waiting.  Resting. Minimal weight bearing.  There will be additional imaging to clear the healing before I head to physical therapy.  There are only very short car trips to doctor’s appointments and to transport my girl.

I am here.  In my house.  Alone.

And it sounded to heavenly when I was dreaming about it in the middle of the chaos of the day to day.

Now it sounds a lot like the tick-tock of the clock hanging over my head.

It feels a lot different when I have to let someone else teach my students.

It is not as productive as I’d hoped, since all the cleaning and sorting and organizing I promised myself if I ever had time is currently off limits with the whole restricted movement thing.

It is a battle not to let my head overthrow me with its worry about “real” Cowden’s issues that may at any point smack us in the face.  It is tough not to think about the backlog of surgeries that will come, but have now been placed in triage.

And yet I have to make a choice.

There was a very inspirational GoalCast in my Facebook feed this morning.

Claire Wineland Dies at 21 and Leaves Beautiful Message

And I’d encourage you to watch it if you have a moment.

Her life was way more challenging than mine.  Yet she made a choice that I still struggle with sometimes.

These last few months without the proper use of my feet have often left me battling depression.  I do not have it all together, or have an inspirational message as this young woman left behind in her short time on earth.

What I do know is if I choose to wallow in this I will miss the “pause” that has been placed in front of me.

Instead I will make the conscious choice to make what I can do, more fulfilling.

I am going to try to write a lot more.  I am going to have some people visit.  I am going to handle a few “sitting down projects” that are in my path. I am going to open the windows and appreciate the fall weather even if I can’t walk in it this year.

I’m going to look at my orchids, and their beauty and crazy, stubborn irregularities that make them magical for me.

I am giving small pieces of my life back to reflectiveness and prayer and simple mindfulness.

Someone took the wheel out of my cage.

For however long it’s gone, it’s on me to decide how to view it.

If you take the time to watch the link above you’ll understand when I say today I am looking to add some lights and a few throw pillows.

This is not easy.  If you’re reading this you likely go through hard things too.

I am a work in progress.  Thankfully God’s not finished with me yet.

I’ll be here with my feet up.

This too will pass eventually.

#beatingcowdens

Six Wheels and a Boot

Published on by beatingcowdens4 Comments

At any given point during our 10 days in Disney, our party of three also had six wheels and a boot.

We must have looked unusual to anyone who passed us by.

I traveled with a virtual pharmacy in my purse, which is really simply a string bag on my back, because who really wants to be fancy anyway?

The week before we left we had a PILE of appointments.  I think I lost count at 17 in the 5 days.  One of them was the orthopedist Meghan sees a few times a year.  He was catching up on the new diagnosis of Ehler’s-Danlos Syndrome, paying careful attention to her knee, which by all accounts has been her ‘Achilles heel’ her whole life.   There had been pain in that knee for weeks prior, which is always a concern.  One of the surgeries she has had repeatedly has been to correct the tracking of the patella.  Anxiety is warranted.

This doctor suggested an MRI to confirm the knee was tracking correctly.  He also said that she was ‘not to walk consecutive distances longer than one block’ at least until the pain in the knee settled.  He prescribed a painkiller and a muscle relaxant.  He told me she was not to walk the parks in Disney. She needed to spend most of the day confined to a wheelchair.  And while there is gratitude for the temporary nature of this situation, there is a mental and emotional adjustment to enduring it.

This was not a totally new arrangement for us, as the knee has limited her walking in the past.  However, there is always the hope that with age things will change.  And while Meghan is healthier and stronger than I have ever seen her, the realities of Ehler’s-Danlos and its wear and tear on the connective tissue are real and very present.  So, out came the wheelchair.

And, one of my appointments was an MRI follow up for the foot that has been a disaster since I fell at work January 8th.

The initial fall partially tore the lisfranc ligament.  Which might have been easier to recover from, except ligaments don’t show on xray.  So the initial diagnosis was a sprain.  Which was treated with 5 days rest.  Then 2 weeks later when the pain was more than it should have been and my primary asked for an MRI, GHI decided I didn’t need one yet and I could wait 6 more weeks.  So, I forced the foot into a shoe for a total of 8 weeks post injury before I couldn’t stand it anymore.  At that point an MRI finally picked up the partial tear.

I was booted for about 6 weeks.  I was pulled out of work and off my foot, but largely too little too late.  I returned and handled the foot conservatively, waiting to feel better.  Or at least closer to being able to walk like I did on January 7th.

Every other week there have been check ups at the podiatrist.  Two visits to a specialist in NYC. Days blended into weeks and my patience started to wear thin.  I began Physical Therapy, but even the PT was baffled by the amount of pain in the foot and encouraged me to keep looking for answers.

A repeat MRI was scheduled for 8/2.  I obtained the results on 8/14.  While the pain in the foot should have been an indicator, I was not prepared to hear that I needed to return to the walking boot, as I had a likely stress fracture in the cuboid bone, and a neuroma in between my second and third toes.   This mess courtesy of my body compensating to protect the lisfranc ligament while it healed.  I had unconsciously shifted all my weight to the outer part of my foot.  I was to limit my walking.  By that night I was back in my walking boot ordering a knee scooter for the trip to Disney.

I remember after the fall in January, and even after the diagnosis in March, feeling so happy that I would at least be healed and back to walking before our trip.  The best laid plans…

So when we headed out for a 5AM flight on 8/18, we had all our suitcases, a wheelchair and a knee scooter.  We checked three bags, and Felix pushed Meghan while I scooted behind.  We were a sight.

And after waking up at 2:30 for our flight and traveling via scooter through the Magic Kingdom, I wanted nothing more than to go home.  Immediately.  I felt like I had done a bad step aerobics video over and over on only my left thigh and butt cheek.  You might not realize the strain on the thigh when you rest the knee with a way-too-heavy boot hanging off the back.  There was just no way I was going to make it.

So Monday morning I released Meghan and Felix to the Magic Kingdom.  I sat in the hotel room.  I cried for about 10 minutes.  I called my mom. I made a cup of tea.  And then I made a plan.

I researched a new set of eyes to consult on the foot when I arrived home.  I rearranged our return flight to a more civil time to I could book an appointment for the 29th with confidence.  I stretched.  I took way too much Advil.

And sometime that morning between the NSAIDs and the caffeine, I started to feel the magic.  I sat on the hotel balcony.  I strengthened my resolve.

I am not sure at all why it seems everything is so hard.  I couldn’t fathom why I had sent my otherwise healthy kid off in a wheelchair, while I sweated inside a walking boot,  all the while healing from the Fine Needle Aspiration thyroid biopsy two days prior for thyroid nodules recurring on my previously quiet and well-behaved remaining thyroid lobe. (Partial thyroidectomy 1993 – dx multinodular goiter, 18 years before I had ever HEARD of Cowden’s Syndrome)

In that moment most of what we were facing had nothing at all to do with Cowden’s.  And yet, the same choice existed in that moment.  I had to decide that I was going to make the best of it.  I had to decide that I was not giving up my family vacation for more medical nonsense.  I had to decide to find a way to enjoy.  Because the struggles, the pain, and the drama would all be waiting for me at home whether I found the “magic” or not.

All the positive thinking in the world was not going to make anyone’s pain go away.  Not even a stomach burning amount of Advil and a few strong cocktails could do that.  But, I am a huge believer in a positive mindset.  And in that Monday morning overlooking the Hawaii themed resort, things started to fall into place in my mind and my heart.

We get 2 weeks a year to spend as a family, free of other obligations.  We get 2 weeks a year.  And I wasn’t going to waste it.

I joined them later that day, and never left them again.  We traveled together – a family of three, six wheels and a boot.  We laughed a lot, we argued a little, and generally found the best in each other.  We met up with my sister and her family for a super fun night together. 

We got to Mickey’s ‘Not So Scary’ Halloween Party for the first time.  We saw more characters than we’ve seen since she was quite young.

Finally, after many years of staring at the giant “Hot Air Balloon” in Disney Springs, I got myself on.  Because, Why not?  Magical.

 

We found that our resort had a stand serving dairy free Dole Whip – the first time my 16 year old ever had soft serve.  Magical.

 

Some people wonder how we do the same vacation year after year.  They wonder how we don’t tire of it all.  For us, there is a magic that can’t be explained, only felt.  There is wonder in eating safely in restaurants and having access to a bakery free of gluten, dairy and soy.  There is joy in eliminating something so basic as food isolation, and sharing meals, sometimes as a family of three, and other times with some Disney friends.

Even Donald was checking on my boot!

There is magic running into Pluto in the lobby of your resort, or finding the Seven Dwarfs waiting to meet your family.

There is magic in roller coaster selfies, and Figment reminding us to use our imagination.

There is magic in all things familiar, and always finding something new.

There is magic when you seek it, even with six wheels and a boot.

Because there will always be battles to fight.  So sometimes they can just wait 2 weeks.

The foot problem is not solved.  It’s time to find some serious answers.  I won’t open the school year for the first time in 22 years.  These next few weeks will be about making plans to heal.

There is no magical solution for my foot.  There will be more MRIs, and more doctors.

My patience will be tested in new ways.  I am not sure what to expect, and that makes me nervous.

But there will never be a single second that I regret adding 4 wheels and a boot to my own self to enjoy and appreciate the magic with my family.

I know the body can not heal if you don’t nourish the soul.

#beatingcowdens

 

 

Rare -ER? More Rare? Where to Begin?

Published on by beatingcowdens6 Comments
A new diagnosis came our way this week.  On top of the existing one.  I have wavered between frustration and relief.  I have felt some questions answered and developed a lot of new ones.  My girl got her words together before I did…
*********************************************************************
My name is Meghan. I am a 15 year old high school student. I just finished my second year of high school in a place I love. I am an A+ student, who loves to learn. I am in all honors classes. I strive to learn and grow as much as I am able. I live, laugh and love. I hang out with my friends. I lay outside and tan. I take my dog for walks. I swim for a competitive travel team where I work my butt off in the water 6/7 days in a week. I improve. I grow. I train. To anyone who only knew me superficially, it’d seem like I was living the dream. I’ve got a couple close friends, good parents, a nice house, a dog who loves me. It’s perfect. Right? Wrong.

Here’s the other side of my life most people don’t know; I’ve got some shitty genetic luck. Because on the inside, I am far from an ordinary high school student with the perfect house and parents.
I was diagnosed with my first- yes that’s right, my first- rare genetic disorder when I was eight years old. By then I’d already had so many surgeries it was hard to keep count, and a bunch of random medical problems that never seemed to add up. That disorder is Cowden’s Syndrome. It’s a mutation on the PTEN gene that causes benign and malignant tumors, increasing cancer risks and letting things pop up all over my body that hurt like a mother.
I’ve lived with this disorder my entire life. Hospitals, waiting rooms, specialists, MRI’s, and every other extremely uncomfortable medical situation you can think of became my life. To date, I’ve had 18 surgeries, multiple procedures, over 30 hospital visits, and 25+ MRI’s that have put wayyyy to much metal into my body. From countless medical traumas I’ve developed PTSD, anxiety, and depressive disorders. What doesn’t help that is the fact that I’m always in pain. I fight every damn day. I fight to live my life, and to get my body to the levels that others can reach with half the effort.
Now here’s the best part, so I’ve got a crazy smart mom, who wouldn’t stop poking around to figure out the other piece to this puzzle. Because, we both knew Cowden’s wasn’t it. There was something more, because this debilitating chronic pain in a relatively healthy 15 year old, plus other random symptoms that just didn’t add up, had to come from somewhere. So, we went back to my geneticist. And, guess what? We BOTH got our SECOND rare genetic diagnosis. hEDS( the hyper mobile sub type of Ehlers-Danlos Syndrome). Fun, right?
I know it’s a lot to write at once. It may seem crazy to anyone else who lays eyes on this post. But guess what? One very valuable life lesson I’ve learned from living this life is to stop giving so much of a damn what other people think.
Just live. ❤

Until inspiration strikes again!
(Or I’ve got some unusual free time 😉)
Meghan
*********************************************************

#beatingcowdens  AND #hEDS…  I guess some updating may be in order…

Behind the Scenes…

Published on by beatingcowdens1 Comment

We don’t post the awful pictures.  We leave out the ones where we look less than our best.  Social media allows us to live in the delusion that everyone’s life is “perfect.”

I’ll be the first to admit the ugly truth.  It’s far from perfect.  It’s not neat or clean.  There is no bow.  And yes, most of the time I do delete the awful ones.  Those images and experiences are seared into my soul.

I prefer to go with the theory that the body forgets pain…  At least your own.  It’s how we survive.  But, if you live watching a loved one in pain – you know the memory will not slip even a tiny bit.  If you hold your child as they cry out in pure agony, or when they are weak from fever, you can remember where you were each time.  If you watch your teen wince simply through a series of steps, or check to make sure they are breathing as they sleep the better part of two or three days at a clip – you don’t forget.

Recently, Meghan was in a production of “Beauty and the Beast Jr.” with the Staten Island Children’s Theater Association, Inc.  She loves the experience of working with a theater group and has been with this one a few years now.  It is such an enjoyable time in her life.  She spends months of Saturdays with genuine quality people preparing for the show.

Meghan as “Madame de la Grande Bouche”

And during those same months she is thriving academically.

And training for swimming.

And making regular appointments, routine, follow-up, and therapy.

And contending with seasonal allergies that are nothing less than relentless.

And, she is, every single day a person living with Cowden’s Syndrome and the effects it has on her, both physically and emotionally.

The show was almost 2 weeks ago.  It took me a little bit to get my thoughts together.

I think I have it now.

Living with chronic illness, chronic pain, chronic life altering physical ailments, is in some ways similar to putting on a production.

You set your sights on what you want to accomplish – large or small.  In some cases it’s going to a party, and in other’s it’s going to the backyard.  But, you plan for it.  You practice it.  You consider every detail.  You may have to select the right costume and even stage it so you don’t sit or stand for too long.  You know just what your body can do and there is a short window where you have to make it all work.

The rest of the time you are backstage.

You are in pin curls and shorts with a tank top.

You are rubbing your feet.  You don’t have make-up.  Backstage and rehearsals, these are what life is made of.  But, we don’t take the camera out while we are there.

Everyone’s preparation is different.  I can only write about ours and confidently say everyone has some level of preparation before the “show”.  Some people make it onto the stage more often than others.  Some people have fewer performances, but make them count as much as they can.  Those people take nothing for granted because they have no idea when they will step out into the “stage” again.

That’s what social media looks like to me, anyway.  Every picture is on the stage.  Some have more than others.  But, because of the world we live in it is easy to judge based on what we see without considering what we DON’T see.

The night of the show Meghan went to the diner with her friends.  She got home close to midnight.  It was Sunday, and a school night, and I had already decided she’d stay home the next day.  It wasn’t a reward.  It was a necessity.  The amount of energy her body had expended could not be recovered quickly.  She slept until 2pm the next day, and was asleep again by 9.

I sent her to school that Tuesday – ready to roll.  She swam at 5am, did a full day of school, an hour of physical therapy and another 2.5 hours of swim practice.

Probably not the best plan.

The physical therapy is in place to try to strengthen her overall.  Joint laxity, ligaments subluxing… all sorts of cracking, popping and shifting.  The search for answers is on, but in the mean time we do PT…

By Wednesday she couldn’t move.  She made it to school – barely.

Her IEP meeting was that afternoon, and we had lengthy conversations about all sorts of physical and emotional needs relating to school.  We also spoke at length about the service dog we are in a holding pattern waiting for, and how he will fit in to the big picture.  So many questions…

Thursday we got in the car to go to school.  By 7:30 I had her back in her bed.  She just could not.  She slept until early afternoon Thursday, followed it with and early bedtime and slept again until early afternoon Friday.  There was a little less sleep as the days went on but it was a slow process.

The show that was so incredibly worth it in every way – cost her a full week in recovery time.  Her body hurt so deeply.  This is not an out of shape child.  This is a person living with a chronic pain and illness that is affecting her body in ways not even the doctors fully comprehend yet.

But I didn’t post pictures of her wincing in agony, or sleeping for days.

To the outside world she doesn’t look sick.  She’s 5 foot 8, full of muscle and extremely well-rounded.

She works hard at it.

Some days are easier than others.  But every day she works.  She is fierce and relentless and she does not quit.

Next time you catch a photo of her smiling or singing in a pretty dress know that it took a lot of staging to pull that off, and there will likely be a lot of recovery on the back end.

But, she wouldn’t have it any other way.  Not for a moment.  She is my inspiration to remain…

#beatingcowdens

 

No Excuses. No Apologies.

Published on by beatingcowdens2 Comments

Recently I asked that Meghan’s “Present Levels of Performance” on her IEP be updated.  She no longer receives many services, but I find great value in keeping this section current.

There is a great deal of misunderstanding involving Individualized Education Plans (or IEPs) and many people feel only children who struggle academically have an IEP.  This is just not true.

My daughter has had one in place since Kindergarten.  She has consistently maintained high honors, and as a matter of fact was Salutatorian of her 8th grade class, and is in an intensely challenging International Baccalaureate program at her high school.

IEPs by definition, are to “Individualize” the Education Program as needed.  Meghan’s needs are not academic, as much as they are residual connected to the Cowden’s Syndrome, the PTSD, and the medical trauma.  The resulting anxiety affects every area of life, and is far deeper than “teenage angst.”  We work extensively outside of school to address this in many ways, but sometimes we need the school to be on the same page.

Much like you give a medical history to a doctor when you see them for the first time, and you update as situations change, the IEP is to be fluid and updated as changes occur so all personnel will be aware of Meghan’s needs.

I make a habit on the first day of school of copying a few key pages of the document and giving it to her teachers.  Even though they have access, and technically it is their responsibility, I am also a teacher.  I get the pressures placed on us.  So, I make their lives easier by giving them what they need and an invitation to reach out to me with any questions.  Her teachers are historically receptive and appreciative.

This year I was reviewing that section on the document realizing how much was no longer accurate, and how it should be more detailed.

I sat with Meghan to write the summary below:

Meghan is a 15-year-old sophomore in the IB program at School.  Academically she is consistently above average in her classes, attaining high honors every marking period for the 2017-2018 school year.

She is a student athlete as well, participating on the School varsity swim team, as well as Trident Aquatics, a 12 month competitive swim program on the Island.

Meghan has several medical diagnoses.  The most far-reaching is “Cowden’s Syndrome” a mutation on the PTEN (tumor suppressor) Gene, causing benign and malignant tumors as well as vascular malformations.  Recently PTEN mutations have been correlated with low levels of (infection fighting) immunoglobulins, which Meghan also suffers with.

Because of the low immunoglobulin levels Meghan has frequent infections that often require antibiotics for resolution.  She suffers with gastrointestinal distress with each course, and needs to avoid gluten and soy.  She also has an allergy to dairy.

Meghan’s medical challenges are far-reaching.  She has had 18 surgeries, 8 of which have been on her right knee.  There was an arteriovenous malformation (AVM) in that knee.  While it has been controlled, the long-term effects will last forever.  Meghan has leg and foot discrepancies on her right side.  The blood was restricted from flowing to her right foot for so long, that it stopped growing 6 years ago.  The left foot is a full size larger than the right foot.  That right-sided weakness has been repeatedly treated in physical therapy, but still presents as a struggle with stairs, and long walks.  While she endures these activities, they can cause pain and excessive fatigue, and extra time may be necessary between classes located far apart.

Meghan had her thyroid removed in 2014 and the resulting need for synthetic medication has yet to be regulated.  Her current endocrinologist follows her 4 times a year, adjusting, tailoring, and trying to balance her levels.

Meghan had 2 D&C procedures during 7th grade.  Those procedures yielded precancerous tissue in her uterus and prompted the need for birth control pills to try to stop the cellular growth.  Those pills have also been difficult to regulate and balance.

Meghan has been hospitalized countless times in addition to her surgeries.  She has also undergone over 30 MRIs and close to 10CT scans, each requiring IV.  She spends countless hours being poked and prodded at doctors, monitoring her cancer risks.  She is acutely aware of her mortality at an age when most teens are barely aware of their social interests.

In the spring of 2017 Meghan was diagnosed with Post Traumatic Stress Disorder, secondary to extensive medical trauma.  She was also diagnosed with major depressive disorder.

In the fall of 2017 Meghan began to develop panic attacks.  Subsequently, she has also been treated for panic and generalized anxiety disorder.

She sees a social worker weekly and has guidance on her IEP in school.  She sees a psychiatrist monthly who manages the medication, which currently consists of and antidepressant and another script for panic attacks.

The panic attacks were well controlled for a time, but flare up in acute anxiety.  This summer saw several severe episodes.  We are working together to help her through all of this.

Meghan is waiting for a service dog, which should arrive in the next 4-6 months, to address the PTSD.  In the mean time, we are teaching strategies to deal with necessary stress, and tools to eliminate unnecessary stress.

I presented this document to the team to update the IEP.  I was a little startled when I was met first with a challenge on the diagnoses.  No problem I told them.  I would send the doctor’s notes.

I love her school, I do.  But, I was in fact also told “She doesn’t LOOK sick”  and “She doesn’t LOOK stressed.”  While I had to breathe a few times before responding, I came up with “You’re welcome…”

We’ve worked quite hard on all of that.  My girl has goals.  Life goals.

Last week Meghan was approached to remove the section regarding the D&Cs from the document above.  She declined.  She was pushed, and told the information was “far too personal.”

Forever practical, Meghan reminded them the document was about her, and should include factual information.

Again pressed, she reminded the staff she helped write the document they were holding.  She wanted and NEEDED her teachers to understand the validity behind her anxiety and PTSD symptoms.

The final time they told her the information was too personal she reminded them that she had done nothing wrong, and had nothing to be embarrassed about.  Meghan is a factual child.  She likes actual truth being reported.  She knows better than to be embarrassed about truth.  She knows ugly truth is a real part of life with Cowden’s Syndrome.  She also knows that secrets give power to things that don’t deserve it.

These things happened to her.

She did not ask for them.

She did not cause them.

She will not hide them.

She will not apologize for them.

She will not let them define her.

But the things that happen to us do change us.  HOW they change us is the only thing we can work to control.

I will continue to work the Mom end to get this updated.

I am beyond proud of her growing confidence, and her desire to educate.

I am proud of her desire to be a scholar and an athlete in spite of all the adversity.

I am proud of her respect for the clock as she grows as a swimmer, and her desire to be the same as everyone else, by beating the same clock.

My girl is, and shall remain

#beatingcowdens

And that is why we continue to work on the journey towards treatments and a cure.

Please consider joining us or making a contribution.  You can reach us at jfrg.pten@gmail.com

Triage- A Way of Life

Published on by beatingcowdens5 Comments

Triage.  The word hangs with me like the memories of countless Emergency Room visits.

Triage. Take care of the most serious first.

It’s the reason we might wait hours for stitches, and barely a moment for a trauma.

I get it.  It makes sense in the ER.  It also makes sense on the battlefield, or in other places where there is widespread injury to be treated.

The thing is, you typically don’t stay in those places FOREVER.

Places we equate with triage are not places of comfort.  And that’s where this life with Cowden’s Syndrome can get tricky.

You see, lately I can’t shake the feeling that life is triage.  24/7/365 damage assessment, and handling the most critical first.  Vigilant.  Hyper-vigilant.  ALL.  THE.  TIME.

When you live with a chronic illness, a syndrome that causes cancer by its very definition, it is so easy to get wrapped up in monitoring and preventative care.  And then there are the times that you go for those monitoring appointments and they require their own follow-up.  This condition can easily morph into a beast that can swallow you whole.

And we’re at it times 2.

What I refuse to allow this syndrome to do is take away any more from my daughter’s life  than it has.  To the best of our ability, she will do “teenage” things, and she will do things she enjoys.

But, lately that has become quite the juggling act.

I am monitored twice a year by endocrinology (post thyroidectomy), my breast surgeons, and dermatology.  I am monitored annually by gyn oncology, and oncology.  This is post-bilateral mastectomy (stage 1 DCIS) and post hysterectomy.  I am monitored every 5 years for colonoscopy.  I am also monitored with abdominal ultrasounds for 4 hamartomas on my spleen, and a cyst on my kidney.  This may not seem all that impressive, but those are just the appointments if everything goes well.  That’s not additional scanning, blood work and biopsies.  None of them are close to home either.

Not to mention, I am still searching for a local primary care doctor.  In addition, there is dental work, both routine, and the emergencies the stress from grinding my teeth keep causing.  I’ve been referred to another oncologist who specializes in genetic diseases, and I need to get in to see her.  I just completed vascular surgery, with its pre and post op appointments and recovery as well.

That’s just me.  Me, and my full-time job.  And, like every mother, my needs are not the most important.

My girl sees endocrinology twice a year.  She is still, 4 years post-op, trying to get thyroid function balanced.  She sees gastroenterology, and dermatology twice a year.  She also sees an adolescent gyn twice a year, courtesy of precancerous tissue already uncovered in her teenage uterus.  She sees a chiropractor every 2-3 weeks for pain management.  Right now, amid diagnosis of the small brain tumors, she is seeing neurology every three months for new MRI scans.  She sees orthopedics every 8 weeks.  They have been monitoring her knee for years, and recently stubborn tendonitis in the shoulder.  There have been a few MRIs of late.  She has seen physical therapy weekly since the fall, and is now working on twice a week.

She is tired.  Partially because of her schedule, and partially because of her sleep patterns.  Despite a regular bed time, she struggles to get quality sleep.  It is hard to turn her brain off, and for her to get rest.

She has developed Post Traumatic Stress Disorder (PTSD) and anxiety, secondary to consistent medical trauma.  She is working through it – but, like everything else, it is a great deal of work.

She is awaiting word that her service dog is ready.  The call could come any time in the next 6 or so months, but we are hopeful this dog will help her through what can be some trying times.

She is an honor student.  She is a swimmer – at least 5 days a week, for 12-15 hours a week.  She is in weekly vocal lessons, and a theater group that meets 3.5 hours a week.  She enjoys a local church youth groups.

She has food allergies – restricted from dairy, gluten and soy.  And seasonal allergies to all things pollen.

None of this includes normal things.  Like dentist and orthodontist visits, or even haircuts.

It is easy to get isolated.

She has a strong sense of what is right and wrong, and can be rigid in her perceptions.  But, life has shown her things most adults, let alone people her age, have ever seen.   Just as that strong mindedness flusters me, I refuse to try to break it down.  It is that same will that has gotten us where we are.

And where we are, is in TRIAGE.

My iphone calendar is with me everywhere.  I prioritize swim and theater over doctors when I can.  Physical Therapy is a high on the list right now for pain management and strengthening.

Vocal lessons keep her going, as she can sing herself through a lot of stress.  Theater is just a fun group of children, and I am not willing to sacrifice that.

I have a list by my desk of “next up” appointments, and because our availability is so limited, I am often booking months out.  We travel to most – NYC or LI.  Short on miles – but up to 2 hours each way – often.

We stack them when we can.  Two appointments are a bonus, three is a banner day.

And every year about this time I dream of a summer light on appointments.  I’ve yet to see it come true.  Truth be told, almost every school holiday and every vacation is cluttered with things we need to do, but would rather not.

There is a blessing in knowing what we are fighting.  There is blessing in having a warning system in place.  But, there are still some days when I’m totally overwhelmed that I wish I didn’t know so much.

Triage.

Triage means that right now the physical and emotional health of my teenager trumps all.

So she swims 5 days.  We do PT 1-2 nights after swim. We see “other” doctors midweek on the one day there is no swim.  We do voice, and theater on Saturday.

I make my appointments on weekends when my husband can drive.  I make my appointments a year out so I can stack three in one day in the summer and on February break.  I schedule our surgeries for February of Easter vacation when I can.

I plan our fundraiser now for October, so as not to give it up, but in hopes of finding an easier time.

I research at night.  There is always a need to learn what most of our doctors do not know.

I write, when I can.  I love it and I miss it, but time just doesn’t seem to allow.

Hair, nails, eyebrows, and things I used to enjoy are forced into holes in the calendar, every once in a while.

Dust builds in places I never used to allow it.

Friends, well I have to trust they get it and they’ll be around when there is a change in the current status of things.  I miss them.

Triage.

It starts early in the morning, waking up a teen who just hasn’t slept well.

It continues through the day – my job and her school.

After school is all about making it work.  Swim, PT, or whatever therapy the night brings.

There are often phone calls, requests for lab reports, or battles about IEP needs…  Emails go through the iphone.

Usually we are out of the house about 13 hours.

At night we pack everything so that we can be ready to begin again.

Triage.

Most critical right now is allowing my teenager to find her way, in school, in sports, and in her life.  Most critical is giving her very real scenarios where her disease does not define her, and she is able to achieve in spite of her challenges, not because of them.

In order to make this happen, everything revolves around her schedule.  There are opinions about that in all directions.  There are people who would tell me I am creating an entitled, self-absorbed human.  I don’t pay them much mind, because they haven’t met her.

When I signed in to be a parent I knew I’d be all in.  I just never saw THIS coming.

Balance needs to always be in place, where the physical needs of either of us are never overlooked.  However, non-essential appointments CAN, and WILL be scheduled around our availability.  She will be a happier, and more tolerant patient when she didn’t miss something she loved with three hours in traffic and two in the waiting room.

Triage is meant to be something you experience briefly in times of crisis.

The “fight or flight” response is not always supposed to be on.

But it is.

At this time in our lives we may not always make for stellar company, although ironically, we’d love to have more of it.

At this time, we may say no constantly, to the point where you stop inviting.  Trust me.  We’d rather go.  We actually enjoy your company.

At this time, we are so busy surviving, and taking care of the most critical needs, that anything not immediately essential gets passed by.

We are constantly evaluating order of events, but TRIAGE is fluid by definition.  Unfortunately there are so many situations and scenarios, it is hard to see through them all.

Even at our toughest times.  Even at our most overwhelmed days.  We can look around and find our blessings.  They exist in big things, like being able to physically attend 5 practices a week, and little things, like being able to WALK around the school without hesitation or assistance.

We are aware of those suffering illnesses far beyond our grasp.  We are aware and we are grateful for the health we do have.

We are also tired.  And lonely.  And often overwhelmed.  We also know this is the way the plan must go for now.  And one day it may change.

Triage is fluid.

Life is fluid.

We all do the best we can with what we have where we are.

And we remain steadfast

#beatingcowdens.

 

 

Rare Disease Day 2018

Published on by beatingcowdens2 Comments

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:

adjective, rarer, 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