Show Up

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

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

 

Desperate times…

I took the knee scooter to the mall.

I brought my husband.  Well, technically he brought me.  And he lugged the giant contraption down the stairs and into the back seat of our “big enough for most things, but not this thing” Sonata.

The screen on his iPhone had cracked and he needed to go to Apple.  I needed an outing worse than a puppy who has been crated too long.

He dropped me off at the door.  He rode the scooter through the parking lot to meet me.  Apparently, like so many other things, its a LOT more fun when you don’t need it.

I laughed in spite of myself at the sight of it.  I was also glad our teenager had decided to stay home.  The sight of it all would have likely been just too much.

People stare right at you, while simultaneously judging you as you drive this thing.  The local mall lacks the tolerance of Disney World.  In fairness, from face on, it looks like you’re using wheels for fun.  It’s not until I have passed, if they bother to look, that they would see the giant walking boot resting on the knee pad.

Today is 8 weeks and 1 day since I’ve been “booted” again. 57 days.

I have had more surgeries in my life than I can count.  Not a single one of them kept me down for 8 weeks. This foot has been messing with my life for over 8 months.

Double Mastectomy – back at work in 5 weeks.

Hysterectomy – back in 2 weeks.

I once had arthroscopic knee surgery over a long weekend, and was back on the 4th floor in my classroom the following Monday.

Vascular, over the February break…

Biopsies, a day tops…

We always say recovery pain is the best kind, because you know it’s going away.

And yet the answer to “Does your foot feel better?” still remains “Not really.”

My kind and compassionate local podiatrist, in a combination of frustration at the injury that won’t heal and my insurance company making it harder for him to treat me, has advised a visit to Hospital for Special Surgery.  I’m sitting.  Foot up, phone in hand, waiting to try to schedule.

I rode that knee scooter all over the mall.  I rode it into the grocery store too.  Quite simply, I’m tired of being locked in my house.  It is truly a ridiculous and ingenious contraption.

If you asked me 2 years ago if I would ever… the answer would have been “NO WAY!”

Except if I keep learning anything through these years of life with a rare disease, and also just life, it seems to be” never say never…”

I had a boatload of things I wasn’t going to do as a parent.  I’m pretty sure the first one was undone about three hours in… right after the anesthesia from that c section wore off…

Wasn’t going to… feed certain things, watch certain things, give certain things, etc. etc.  And then you find yourself learning that all the plans in the world are suddenly invalid as you just try not to damage the tiny human.

A great deal of my pride was left behind in the OR where she was delivered.

I lost a bunch more of it through a slew of breast biopsies prior to the double mastectomy in 2012.

The uterine biopsies, the hysterectomy, the “cancer screening” human exams took a bunch more.

And there are few things quite as humbling as a breast MRI of your silicone implants.

I was never “in fashion” but I used to take great care in what I wore.  Things were dry cleaned.  Stockings and heels were worn daily.

Then there was back pain that seemed only better in sneakers.  Coupled with a significant weight loss my wardrobe evolved into jeans, t shirts and sneakers.  May be a dig at my early judgment of “too casual” teachers…

Life, at it again…

If we are open, and able to be introspective, we are changing and growing all the time.

I am in a painstakingly slow process of relinquishing control.  

Control is really largely an illusion anyway.

Faith, trust, hope, and the ability to embrace what the future has in store, these are my current goals.

I’m a work in progress.

So if you see me and my knee scooter, be kind.  You may even see me up and down the block.  These are, after all, desperate times…

We’re done being caged up.  I need some fall air.  I am ready to get well.  Since my foot isn’t cooperating, I’ll start with my mind.

#beatingcowdens

 

 

Difficult To Work With

I am so tired of fighting.

All the time.

My Grandfather told me  many years ago that I was “difficult to work with.”  He said it with love.  I don’t remember the exact context.  I do remember it was said with a smile.

And he was undoubtedly right about that, like so many other things.

I had a boss a few years back that told me, “If you continue to hold everyone to the same standards you hold yourself to, you will always be disappointed.”  Strong words, but also not  inaccurate.

I am a lot to take.

I am intense almost all the time.  I have a mouth full of words that last long  past the attention span of anyone I strike up a conversation with.

I am passionate about things I believe in.

I make lots and lots of mistakes.  But, I truly do my best all the time.

So I just sometimes struggle to understand why it seems everything I touch or encounter is a battle.

I spend hours upon hours sorting through medical claims.  I look up who paid what, and when.  I call on bills that need to be refiled.  I take names on post-it notes with dates and times, in case things don’t get rectified.

I file out of network claims, and then I watch them processed in error.  I make three phone calls to try to sort out the change in policy, which was simply just a mistake no one will own.  I take names again.  I am told to wait 6 more weeks for hundreds of dollars owed to me to be reprocessed.  It’s only a little about the money.  It’s mostly about the notebook, and the folder with the copies of the claims, and the alarm in my phone to remind me when I need to follow up on the call again.

I send medication to the mail order pharmacy because we have no choice.  And then I wait for them to screw it up.  That sounds negative, but it’s simply accurate.  They have an entire notebook in my world to help manage the 9 mail away prescriptions between us.  There is a perpetual box on my ‘to do’ list which tells me to check on the progress of any refill.

I make appointments.  The list has 20 specialists between us.  They vary from twice a week to once a year.  A psychologist once told me not to let the appointments interfere with “preferred activities.”  So there is a matrix with the impossible task as the ultimate goal.  Except none of the 20 doctors know about the other 19.  Or the full time job.  Or the high school honor student’s schedule.  Or swim practice.  Or theater.  Or voice lessons.  Nor do they care.  And I get it.  They can not hear everyone’s story. So when I call to try to carefully place that appointment in a very tiny window of time, they are always unhappy with me.  They think I’m being unreasonable.  And maybe I am.  But, I can’t imagine why I wouldn’t TRY to get everything to keep her physically healthy and still let her be a teen.

I deal with unexpected schedule changes.  Like when I carefully stack 2 appointments in one day, and then one has to move to right smack in the middle of a week long summer internship that was planned forever ago, because now instead of two doctors with Friday hours at the same facility, one has Monday and one has Friday.  No overlap.  So I erase,  and juggle.  Except I’m not great at juggling in a literal sense, so one got cancelled and hasn’t been rescheduled.  Actually two… because summer can not be ALL about doctors.  Nor can every day off.  But, neither can every day at work or school…

“What do you mean you’re not going to reschedule today?”

So much of our condition relies on screening.  Early detection is a blessing.  It is the key.  It is also tedious and time consuming.  It is possible to be grateful and overwhelmed simultaneously.

So much of this is case management.  And, when last I checked my master’s degree is in education, not medicine.  But, with no one to coordinate care I have to guess a whole lot.  I have to decide if 9 months will be ok instead of 6.  I have to decide when to push the doctor for more lab tests when the fatigue won’t quit and the thyroid is ok but the spleen…eh, no one is quite sure about the spleen…

And there are doctor’s whose pride won’t let them return a call because I haven’t seen them recently enough.

There is the genetics appointment lingering again.  Because maybe Cowden’s wasn’t the WHOLE answer…

And the “normal people stuff”  like the seemingly never-ending root canals because my stress is played out in the jaw clenching that overtakes the episodes of sleep. That is on the occasions everything is calm enough for me to make it to my bed.

Or the foot injury.  The “rare” lisfranc ligament partial tear.  Close to 6 months later.  Not a soul wants to hear me tell the story again.  No one wants to believe that it still hurts badly enough that I haven’t take a real walk since last fall.  I’m not lazy.  I’m horrified by the state of my body in the absence of real physical activity.  I am trying to be patient.  My patience is running out alongside my sanity.

And the IEP.  Oh, the Individualized Education Plan… and the meetings.  Over and over and over again…  Meghan is on the waiting list for a service dog.  She has PTSD and generalized anxiety disorder.  The dog is coming.  The process is wearing me out.

I am a lot to take.

I am often “difficult to work with.”

I hold myself and others to a high standard.

I am intense most of the time.

I am tired.

I am so very tired of fighting all the time.

There is no choice though.  No choice at all.

So, in the mean time I will be here.  Strengthening my resolve.  I may bend, but I will not break.  I will continue to strive to show my girl that she can have a rare and currently incurable disease, while excelling at school, at sports, being active in the community, and being a generally decent human.

Last month we walked out of a screening appointment.  It was not critical.  It was an hour behind.  We rescheduled.  Also a valuable lesson.

I am tired of fighting, but I am far from done.

As my Grandfather said, I am “difficult to work with.”

I am also loved.  I am flawed.  I am also forgiven. 

 

When I have no more, I put my hands together and ask… and I am never disappointed.

Through God’s Grace alone we remain…

#beatingcowdens

A Drop in the Bucket…

As of today, my records show 78 appointments between the two of us since January 1st.  That’s 148 days.  More than one every other day.

78 scheduled appointments.  Some appointments are close and some are far.  Some are routine, some are emergent, some are therapy and some are follow up.

Every single one of them interrupts or controls a day, depending on its location and wait time.

So what do you do?

This is reality.  This is chronic illness x2.  This is what it is.  These appointments are non-negotiable.  They also can easily become all-consuming.

What do you do?  How do you keep it in check?  How do you keep it from swallowing you up?  How do you keep it from winning?

I thought I knew.  I though I had it all mapped out for a while.  But, the oppressive weight of chronic illness can be crushing.

It happened slowly to me.

 

I was carrying a bucket.  Every appointment was a drop.  Every hour wasted in traffic was another.  Every time I picked up the phone to fight a medical bill, every time I juggled a full time job, and the full-time extra curricular calendar of my teen, the bucket just got more and more full.  Now, I carry the bucket.  All the time.  Everywhere I go.

And it’s full.  Really full.

So I try not to spill.

But there isn’t much room for anything else at all.

I’ve said no to one too many events.

I have turned away from one too many dinners.

I have declined get-togethers because I just don’t feel like I can breathe.

I spend the whole day with this bucket.  My mission is to keep it from spilling.  It holds too many things too valuable to spill even a drop.

I say out loud that I am fitting chronic illness into our lives.  But, many days I feel like I am fitting life into our chronic illness.

I am not complaining.  There is so much I am grateful for, and so many things I would never ever change.

I am however simply trying to keep from drowning in my bucket.

Working on my balance…

#beatingcowdens

 

Normal People Stuff

Two weeks of as much rest as I can possibly stand.

The trouble with having a rare disease, as I’ve said so many times before, is that you ALSO have real life.  You ALSO have “normal people stuff.”

After that early January fall, I was quite consumed with my shoulder, and pretty bothered by the flippant attitude of my breast surgeon.  All of which still stew inside of me as the real possibilities of breast implant associated illnesses are all over the news this week.

Just one of the many stories this week outlining a possibility. That’s where it begins. With someone saying it “could” be. 

And then there was the new endocrinologist on March 12th.  It was a backwards progression of sorts.  A referral from the surgeon who has been following me since my PTEN diagnosis.  I never really settled into a new endocrinologist after I disagreed with my long standing one in 1998.  He was bothered by my questions.  I bounced in and out of a few.  I found them mostly arrogant and out of touch.  I held with one during my pregnancy in 2003, but ditched him soon after my C-section.  I had a primary running bloodwork, and I was guiding treatment based on my labs until the Cowden’s Syndrome surfaced.

At that point I was handed off to an endocrine surgeon.  The possibility that the half of my thyroid which remained after a partial thryoidectomy in 1993 could fall into the 35% lifetime risk of thyroid cancer that comes along with a PTEN mutation was real.  We agreed on annual follow-ups using the ultrasound in her office.  All was smooth until February 26th, when she saw some calcifications on the ultrasound.  She got spooked and wanted a “fresh pair of eyes.”  She referred me to an endocrinologist in her hospital.

He sent me for a “proper” ultrasound before my appointment.  He then, with some promising knowledge of what a “Cowden’s” thyroid looks like, went through the images from the exam.  He told me that there were some potentially concerning features, but nothing that appeared urgent.  He questioned why I had not been using the formal ultrasound at the hospital, as there was now no baseline to compare it to.  In another episode of wondering why I don’t ask enough questions about my own care, I had to let it pass…

He told me the radiologist would read the ultrasound with more concern than he did.  He was right.  So there will be another ultrasound in August.  We’ll talk about the status of that right thyroid lobe then.  In the mean time he offered me a change of medication that in 30 years on Synthroid no doctor has ever entertained.  Monday I will begin a lower dose of Synthroid combined with a twice a day dose of T3, liothyronine, in hopes that I might get some of my sought after energy back.  With a standing order every 3 weeks to monitor blood levels, at this point, I have nothing to lose.

So back in circle to the “normal people stuff” intertwined in this balancing act.   April 18th is still the earliest day to contend with the chronic ear pain and fluid I’ve been handling since September.  It doesn’t matter that it has headed into my mouth and is bothering my teeth.  That it is somehow messing with the nerves so badly that I ended up with a root canal specialist yesterday.  Of course, she won’t touch the painful tooth because no one can know exactly what is in my ear.  Pain management.  Maybe it’s Cowden’s.  Maybe it’s allergies.  Maybe it’s simple.  Maybe it isn’t.

And then there is that foot. Snagged on a kids chair in a third grade classroom in the middle of teaching a lesson.  It knocked me on the floor.  I was so worried about the shoulder, and the breast implant that I ignored the foot.  At least I tried to.

About 2 weeks after the fall I saw my primary and asked for help.  She suggested an MRI.  GHI promptly denied the MRI and told me to ice and elevate as much as I could, and reevaluate in 6 weeks.  I was left with no choice but to continue a job that kept me more hours on my feet than off.  By March 6th I couldn’t take the pain anymore and headed to a podiatrist.  He evaluated the foot, ordered Xrays, and got them read within hours.  By the next day he had the MRI approved and I went in for the exam.  About 72 hours later I got a call asking me to come in to discuss the results.

That’s never an actual good sign.

So when I walked into the office in two sneakers, I kind of suspected that I wasn’t going to leave in both of them.  And I was right.

MRI revealed a partial tear of the lisfranc ligament in the left foot.  Apparently this is an incredibly rare injury, (insert shock and surprise here) that the podiatrist anticipated before the MRI.  Apparently you can only get this injury through a twist and fall, you know, like catching it on a student’s chair mid-step.

I got a soft cast, and a giant walking book.  I got pulled out of work for at least two weeks, with no idea when the good people who review these cases will approve this as the clear work-related injury it is.

I have another appointment with the podiatrist tomorrow.

There is State testing at work this week. I’m always there for testing.

But right now I’m actually testing my inner strength.  Resting my foot.

I’m preparing for my clearance to return to work.  I’m preparing for my ENT appointment.  I am preparing to get my ear fixed.  I am preparing to get ready to lose the other half of my thryoid.  I am preparing for another plastics consult…

And all the preparing in the world won’t matter.  Because life will come in the order it wants.  That is the lesson for Cowden’s Syndrome and real life…

The dog hair and I will be here until then….

#beatingcowdens

 

It’s This Day to Day Living…


And that might be an accurate description of my current assessment of living with Cowden’s Syndrome.

It’s so hard to put into words.  Those who don’t understand are likely to think I’m insane.

When you know your mission, you carry it out.  You are driven.  Focused.  There is something that needs to be accomplished, or an adversary beaten.  You have a crystal clear goal.

As difficult as those moments have been, I am starting to find the ‘forever’ aspect of this syndrome to be overbearing at times.

Some days it seems no matter which hurdle we clear, something else is in the line of fire.

I waffle between doctors who are either not interested, or are so overworked that they lack the time, energy, or desire to research and think from the alternate view required for a 1 in 200,000 mutation on the PTEN (tumor suppressor) gene.

Research.  Real research  (yes, I am smart on the internet and know what to read and what to brush off,) is surfacing so often that it is hard for me to even keep up.  I don’t expect my doctors to be on top of it.

I expect them to treat me as a partner in my own care.

They have gone to medical school.  I have not.  However I have more extensively studied Cowden’s Syndrome than they ever will.  And I still have a great deal to learn.

Gone are the days when “doctor knows best,” and I should comply without question or explanation.  This is my life. This is my daughter’s life.  And wherever I can assist, I intend for those lives to be long and strong – physically, mentally and emotionally.

Tuesday the 26th was my “doctor day.”  It became a necessity years ago that I take a personal day and “stack” my annual appointments.  This makes the day out of work worth it.  Some years things are smooth.  Other years, well… not so much.

After a fall at work in January, where my 5 foot 7 frame ever so gracefully landed on my right shoulder and implant, I have been uncomfortable.  The implant that was previously easy to ignore was prevalent in my thoughts all day.  It is not ruptured, and I was able to get MRI confirmation of that.  However it is just annoying.  It sits slightly off place, a constant reminder to my brain and body that it is THERE.  I am grateful it is not painful.  I am not content to live with this situation indefinitely.

My discomfort, and the knowledgeable people I share some Facebook support groups with, let me down a path of research on silicone implants.

I learned a whole bunch of things.  Most of those things are probably inconsequential in my life, but they made me angry.  I had double mastectomy with immediate implants in 2012.  In 2016 the implants needed to be replaced way ahead of schedule. (With a maximum of about 10 years on average).  I had one breast surgeon and two plastic surgeons.

No one spoke to me about a condition called BIA-ALCL (breast implant associated anaplastic large cell lymphoma).  The risk is minimal, but it exists.  No one ever talked to me about it and allowed me to make an informed decision.  We have a rare disorder that predisposes us to greater cancer risk.  No one has thoroughly studied the occurrence of BIA-ALCL, and certainly no one has considered it in relation to PTEN Mutations.  No one knows.  But, I deserve the uncertainty discussed.

Further down the same page is the screening recommendation that women are screened via MRI for silent rupture 3 years after the first implants, and every 2 years following.

Not a word. Ever.

https://www.fda.gov/ForConsumers/ConsumerUpdates/ucm338144.htm

There are other pages.  Solid articles.  But if you read the above link you get the point.

So I saw my breast surgeon first.  All was good on exam.  That was a relief.  I began a discussion about the above, and was really upset by her flippant response.  I was told I was reading too much on the internet.  I was told that there was no conversation about possibly removing my implants.  Granted this is not something I was ready to do tomorrow, but it was something I wanted to learn about.  I was told I would be subjecting myself to unnecessary surgery and she would counsel my plastic surgeon against even entertaining it.

I honestly felt like I had been hit.

I asked her what her thoughts were on BIA-ALCL related to Cowden’s Syndrome.  She had no answer.  I asked her how many PTEN patients she sees. 20? No 10? No 5? No, less than 5.

I asked about screening MRIs.  I was told they were “unnecessary”.  I referred her to the above link.

I could not believe that I sat in the middle of a major cancer center in New York City.  I felt violated and angry.

Next came my oncologist.

She is a kind woman with very few answers or helpful tips on risk management.  She pretty much looked up Cowden’s and checked that I have no breasts, no uterus, and half a thyroid, so I should be easy to manage.  I asked her questions about bone density,and heart health, (30 years of thyroid replacement, 7 years into forced menopause) and she simply said, “I don’t know.”  I asked about the lymphangiomas on my spleen that currently outsize the spleen itself.  She started to talk to me about spleenic “cysts” but I drew her back to lymphangiomas and the vascular component that often affects PTEN Patients.  I have not desire to lose my spleen, nor do I have a desire to harbor a potentially destructive organ.  We settled on a bone density and an abdominal sonogram to measure the lymphangiomas.  At least this makes sense to me.

Off to the otolaryngologist with a hopefully not PTEN problem.  He did vocal cord surgery for me 2 years ago to remove some growths.  This day the vocal cords were clear.  The right ear however has been an issue since September.  I spent a bit of time treating for migraine, and blaming the chlorinated pool spectator sections.  I had 4 doctors prescribe antibiotics when they saw fluid in my ear, and another a short course of steroid.  All cautioned me about hearing loss.  I regained my sanity to some extent when a friend gave me Mucinex sinus max.  Something about it helped the pressure.  The doctor got a look in my ear and used his camera to show me the fluid inside the right ear that is not draining.  He also looked deep in the ears and told me something was “off” with the ear canal.  But that was as far as he would or could go.  He gave me the name of a doctor to treat me.  He also told me to get a hearing test, and to understand that they must find a cause prior to any treatment.  April 18th was the first I could get.  Mucinex for all till then.

The endocrine surgeon came into my world post diagnosis in early 2012.  I believe her function was to evaluate regularly the remaining 1/2 thyroid, as thyroid is one of the greatest PTEN related cancer risks.  My thyroid was partially removed in 1993 due to a diagnosis of “multi nodular goiter.”  At the time, the prevailing wisdom was to leave one of the lobes intact and suppress it with high doses of synthroid, keeping the TSH (Thyroid Stimulating Hormone) low.  For years I operated with a lower than normal TSH, but it worked for me and seemed to keep the remaining tissue quiet.

When I was diagnosed and my team changed, so did some of the management theories.  This endocrine surgeon, who was only managing my medication as a courtesy, not as a regular practice, preferred a slightly higher TSH level.  We jousted a few times about fatigue, and other side effects that come with adjustment.  We had made peace on a split dose, until I had my levels measured in January and they were WAY to high for my physical comfort zone.  After my initial glee that I was not totally losing my mind, and that I needed medication, I started to wonder why the level change.  My weight was consistent…. my activity level consistent…

She did a routine sonogram of my neck in the office.  For the first time in 7 years she paused.  “There are small calcifications.  They were not there before.”

I asked about a biopsy and she told me she would not even know what to biopsy.  She’d be “guessing” as the thyroid bed is undefined.  She said she wanted me to consult with a colleague who is an endocrinologist well versed in molecular genetics.  She told me it was no rush.  She was going to Email his staff, and I could reach out when I have a school break in April.

That was Tuesday afternoon.

Wednesday morning I received a call that it was suggested I book the first available appointment.  I did so for March 12th.

I was told to obtain an ultrasound for basis at a local facility.

Thursday morning the phone rang again directing me to get the ultrasound at the hospital before I see the doctor.

Things seem to have moved from very casual, to lets not dawdle, quite quickly.

I’m not emotionally attached to too many non-essential organs anymore.  I’m vested in getting anything out before it causes me trouble.

Life is a juggling act.

I have plans.

Doctors appointments get in the way.

I know people who use sick days to vacation.  I use mine on the Gowanus Expressway.

I want to get it together, and see people.  I want to have casual conversations and catch up on people’s lives.

I will.  One day.

But for now the energy remains focused on a kind, lovely, compassionate teen, and keeping these two “Rare” ladies in their best health.

Oh, and that fall in January left me with a pain in my right foot that just won’t quit…

Tick tock… the waiting continues…

And we remain forever

#beatingcowdens