Punched in the Stomach…

…over and over and over again.

punched

Sometimes that’s the best way I can think to describe it.  There are days, so many days, when it’s like a sucker punch that takes your breath away.  It’s not going to knock you to the floor.  You’re stronger than that.  But, man, it knocks the wind out of you.

First, it’s the drive.  The traffic.  The hours spent headed to the appointment.

Then it’s the “hurry up and wait,” as you strive to be there for your 2PM appointment that COULD NOT be changed to later.  Only to wait until after 3 in the waiting room.

hurry-up-and-wait

After that it’s the news.  No matter what the appointment is, a Cowden’s Syndrome appointment rarely ends with overwhelming optimism.  Well, because they are all so unsure.  So they are afraid.  And I get it.  But, then they tell you the parts they DO know, and you sometimes just want to sit in the corner and bang your head.

THEN after all that GOOD fun, is the drive home.

Usually all in all about 5 hours roundtrip.  Whether it’s Manhattan or Long Island it doesn’t really matter.  It’s 5 hours at a clip that you’ll never see again.  Plus hours and hours analyzing…

About the only GOOD thing that comes from all these is the time spent chatting in the car.  Because my kid is pretty cool, and I enjoy her company.  I just wish we had more time to be together, at the beach, or a concert, or somewhere fun…

mother-daughter-2

Today it was the orthopedist.  He operated on Meghan’s knee in May of 2015.  It was the 6th surgery on that knee, all ramifications of a pesky AVM (arteriovenous malformation) wedged somewhere under the meniscus.  After the surgery there was PT, then a 6 month follow-up.

In November he released her from PT, and asked for another 6 months.  In April he was so bothered by what he saw he brought us back in 2 months.  He was troubled by her muscle spasms, and her generally being unwell.  The conversation that day led us back to the hormone she was on after the December d&c, the one with the precancerous cellular changes.  The medicine that was supposed to help keep the uterus in check.  The medicine that seemed to come up an awful lot in April as the source of many problems.  We labored over the decision and consulted almost every doctor, but ultimately decided to ditch the medicine and hope for the best.

Today the muscle spasms were gone.  Evidence that they were caused by the hormone.

But, there was another pile of information to digest.

Sometimes it’s so hard, because you ask questions, and you just don’t always get the answers you want.

questions.jpg

What about that right leg, will it ever match the left in strength?  Do you think the foot will catch up?

No, it’s not likely.

Impact activities, even walking over a half mile, cause knee pain.  Will this ever resolve?  Can she do anything to help it resolve?

No.

So, what do we do when we have to walk far distances?

A wheelchair.

And the conversation continued like that.  He is actually quite well spoken, but today his words hurt.

He is a good doctor, a good surgeon too.  But, he is honest.  Necessary,  And painful.

We got some suggestions for strengthening.  And a script for a refresher with our favorite PT.  Progress will happen.  It will just be slower.  It will take longer, and harder work than any of her peers.

We don’t use the word fair anymore.  It’s all relative.  Nothing is really “fair.”  But, some days it’s harder to find the bright side than others.

Some days, even when the doctor tells you it’s not right that someone your age should have so many limitations, it doesn’t make it any easier to hear.

Because the reality is what it is.  There is both gratitude and pain in the mobility she has.  Her drive, her focus, extends beyond limitations.  She wants to be free.

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Yet, somehow even on the toughest days, I have solace that there is a plan.  And it will continue to unfold for both of us.

Tonight we recover from a few sucker punches with chocolate cookies and coconut milk ice cream.  Tonight is not for the bright side.

Tomorrow will be different.  Tomorrow is school.  Full of people who do not know, or who are virtually unaffected by the realities of Cowden’s Syndrome.  And tomorrow is drama.  And tomorrow is swimming.  Tomorrow will be too busy not to press on.

Tomorrow will be for working on ways to keep moving forward.

Tonight will be for resting.

Tomorrow is for

#Beatingcowdens

“Lucky” Number 13

People count all sorts of things.  Among the things we count are surgeries.

Lucky13

 

Although the most recent ones have been predominantly knee related – 2011, 2012, 2012, 2013, 2014, 2015… we don’t forget the others that fit in.  And we don’t even try to talk about them without the three page cheat sheet detailing the most pressing medical information.  We don’t talk to over zealous residents without the 32 gig flash drive pulling up PDFs of old blood work and reports.  (Saved her another stick today when I could produce a recent normal liver enzyme panel!)

So today, surgery number 13, was not a surprise.  It was anticipated and planned very deliberately for months on end.

The day started before 5, scheduled for a 6 AM arrival.  But, in reality it started last night.  Bags were packed to include clothes, toiletries, snacks, electronics, chargers, and our shakes too.

We got up and out quickly.  No fanfare.  No time for a “selfie” of the three of us in our “Never Give Up” T-shirts.  We checked in just past 6 and shortly after were performing all the typical surgery routines.

It is funny.  There are two groups of people in my life- those who have similar numbers of surgeries to us, and the larger group – those who have had next to no surgeries.  The first group understands surgery “routines.”  The second group raises some eyebrows.  They are horrified at our use of the camera in the hospital.  But this is our reality, and I can pack for surgery as well as I can pack a carry on for vacation.

arrow through head

We were greeted in pre-op by about a half dozen people all asking exactly the same questions (even though they and I had the cheat sheet, we still had to play the question/ answer game.)  Several consent slips were tossed at me.  The anesthesiologist and Meghan made a deal involving the timing of the IV and the mask.  Felix was given the necessary garb to walk into the OR.  I stole a few extra minutes to clarify the plan with the orthopedist.

And I must confess there was some major anxiety.  See, the plan as I saw it was for her to have the AVM embolized while the orthopedist cleaned out and searched for the elusive “leak” in the artery.  That’s why we coordinated surgery times.  Except, as it was presented to me today – the vascular guy wasn’t touching the AVM unless it was absolutely necessary.  This was a far cry from the report after the MRI in January when we were told another embolization was necessary.  But, it was now in the moment.  They had a plan and I had to play along.  The orthopedist promised me the vascular guy would be there while he poked around at the beginning in case he was necessary.  He also promised me he would do his best.  What more was there to ask, I guess.

In the waiting room I thought.  Too much.  But, when I was just about insane with my thoughts, I let them wander to Ashton and Suzannah, and the number of hours involved in EACH of those procedures, and I tried to feel better.

After about three hours we were greeted by the orthopedist.  His words were varied, but included “not as bad as I expected,” “quarterized several spots that were leaking blood,” and, “cleaned out a good deal of scar tissue and debris.”  He gave us some pictures to see his work, and left us to meet up with Meghan in recovery.

She woke up slowly, but well, and soon she was alert.  While she spoke to her dad I fielded detailed questions from several more people who held the cheat sheet. I took out my copy and obliged them with answers.  She woke in the most terrible kind of pain, curtailed by a dose of morphine and some ice.  Lots of ice.  For Meghan.  And for me- as I managed to bang my head on the table.  Insert exhaustion here.

exhausted

The pediatrician on call was relentless reviewing the three sheet medical history.  Eventually we got our room, and some time around 2 we were greeted by friendly nurses, a nice bed, and some more pain meds.

Things were settling a bit until the “Inquisition” took place in the form of that previously mentioned pediatrician.  I have to tell you she succeeded on really aggravating my last nerve.  She actually handed me her copy of the “sheet” which had been copied to just about every department so she could ask me the same questions.  By now the fatigue was starting to set in.  I resented the implications that it was somehow my fault no one was “running” my daughter’s medical care but me.  I explained carefully that I was jaded by years of dealing with sub par medical professionals.  She did not take the hint and proceeded to contact my pediatrician to tell him she disagreed with one of Meghan’s medications.  Whatever…  Truly.  Spend some time learning about Cowden’s or ANY Rare Disease.  Then we’ll talk.

'I'll give it to you straight - This disease is almost IMPOSSIBLE to pronounce.'

Arrogant self- importance.  Ugh.

We were called down to radiology at 2:30 so the feet could be X-rayed.  The orthopedist believes, acknowledges, and is searching for an answer on the foot size discrepancy.  Results tomorrow.  In the mean time his caring makes him my current favorite.

Pain medications in place.  Crutches safely in the corner.  Lights are off.  Movie is on.  And the day is just about over.

cartoon-dog-holding-crutches-4589354

Tomorrow we SHOULD be home.

For now, number 13 is in the books.

thirteen

And my happiest news of the day came when the anesthesiologist said

my girl was “stable and strong” during surgery.

The little things are HUGE!

Thankful for the prayers and the guardian angels…

Tomorrow is a new day for BEATINGCOWDENS…

Now, we rest…

Hurry up… and waiting rooms…

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

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

Waiting.

Alone with our thoughts.  Not always my favorite place.

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

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

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


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

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

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

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

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

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

 And I’m impressed I got her there.

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

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

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

So very hard to believe.


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

The Speed of Life

speed of life 2

I am always amazed by the speed of life.

I don’t know why at this point I’m not used to it yet.  But, as I sit here with my leg elevated recovering from a vein stripping on Thursday, I find it hard to imagine it hasn’t been quite a week since “Jeans for Rare Genes” took place.

Rare Disease Day Fundraiser

Acknowledgements have been sent by Email.  Some are waiting for the mail, and others will be delivered to the local businesses that supported us in the next few days.  We wanted everyone to know that what we considered a lofty goal of $10,000 to be donated to the PTEN Hamartoma Tumor Syndrome Foundation, and The Global Genes Project has been surpassed.  The checks are still being counted, and the final payment from eventbrite is due any moment.  But it looks like the total will clear $12,000 before we are through.  Not too shabby for the vision of a feisty 11-year-old who has already begun to make tentative plans for what we will do even better “next year.”

PTEN logo global genes logo

And as I’ve digested the success, and have processed the overwhelming pride of a mother, and expressed our gratitude to family and friends near and far, (like the Yokleys from Colorado!)  I’ve taken some time to reflect.  Standing before a room filled with 150 of our friends and family on a bitter cold February morning left my insides warm and toasty from the love surrounding us.

Life moves quickly.  For all of us for different reasons.  But, with this syndrome x2 life seems to be literally swallowed by doctors, and tests and surgeries, with every spare moment trying to shove “normal” into the cracks.  We miss stuff.  A lot.  We miss friends, and gatherings and social events, and celebrations, and ordinary get-togethers.  We are absent more than we are present.  Our friends and extended family are often neglected as immediate family has to occupy any moment that isn’t already full.  I don’t actually remember the last time we had friends for pizza, or a casual summer gathering on the deck by the pool.

And I think about the pure innocence and wisdom of Meghan and Connor, as they finally met.  Two friends from miles apart, with a life altering syndrome in common.  Two bright, funny kids who have seen more than their fair share.  Two kids who get compassion, and understanding, and life.  Two sets of parents, immediately at ease with each other because we understand.  And sometimes that’s all you need.  And if you missed the two articulate, wise beyond their years, kids talking to the local news – click here.

I think about Georgia, a world away in Australia, and how she and Meghan have hit it off in a way only girls who share such a bond ever could.  I think how wonderful it will be one day to get them together too.

And I think about Ashton, older than Meghan, but a girl on a mission all the same.  And I think of all she has to offer the world, as she endures her 14th procedure on a stubborn AV fistula in her brain this week.  I think about all the prayers we say, and all the questions Meghan asks.  And her Mom.  My peer.  A Cowden’s patient too.  A school teacher turned full-time mother later in life.  Because it was meant to be.  I think about the hours spent texting and messaging.  And how I already feel so comfortable…

And I know that the room was full for them too.

I am grateful beyond measure for the ones who understand.  Who don’t give up on us.  Who stand with us, beside us, behind us, or just about wherever we need them to be.

help from my friends

I will resolve to try to reach out more.  I just don’t know how many more hours I can squeeze out of a week.  But I will try.  Because the speed of life is astounding.

Sunday some of my college friends were delayed to the fundraiser.  They were in the hospital with one, as her father was very ill.  Yet, they found the balance.  They stayed with her, and then came to us.

Thursday as I came out of I think my 7th vascular procedure I got the texts on my phone that things weren’t good.  Her Dad passed away Thursday morning.  My heart hurt.  It was ironic really, as I had felt my own Dad ever-present as I got checked in and prepped.  I got to thinking that out of 5 of us from college that I really stay in touch with, three had already lost a father, and one a mother and a brother.  How did we get to this stage?  How did life move so fast?  And although my own recovery will keep me from making it to her side tomorrow, – I know she will feel the love in my heart.

friends uplifts-the-soul

We have to try to slow things down.  Sometimes.

But, I’m not sure when.  Or how.  Because yesterday I sat in the back seat with my heavily bandaged leg, and we made the trek to Cohen’s Children’s Hospital on Long Island.  And we saw an orthopedist about Meghan’s knee.  Her vascular surgeon suggested we go – before the next embolization procedure in her knee.

Her MRI shows some damage to the knee structure.  “Blood is a terrible irritant, even in small quantities…” And I would imagine that this AVM, probably active since birth, has been slowly eroding the knee.  So there is swelling in the bone marrow, and issues with the patella, and all sorts of explanations as to why it keeps hurting.  There is no real solution, but a synnovectomy will get him in the knee.  He can “clean out” some of the scar tissue, and we can pray that gives relief and doesn’t provoke a “hyper healing” Cowden’s type response.  But we have to try.  They have to see.  It’s time to get a real baseline.

So they will present her case next week.  And we will hope that the recommendation is for the vascular surgeon to do his work on the AVM at the same time the orthopedist does his work.  Because the recovery from the embolizations is tough.  This one promises to be outright nasty.  “At least a week on crutches.  Minimum 4-6 week recovery.  PT to build back the strength in the thigh muscle.”  They will fill the knee with saline to get a clear view…

So he asked about her activities, and approved of swimming.  Almost relieved when she told him she had given up soccer and dance because they hurt too much.  He asked what strokes in swimming, almost tentatively, as if he was hoping for the answer he got.

“Butterfly is my favorite!”

keep-calm-and-swim-butterfly

And he looked relieved as he explained to Felix and I that butterfly kick was best on the knees.  Meghan chimed in, “because you kick from your hips!”

We were once again impressed by her instincts and her depth of knowledge of her own body.  She gravitated to a stroke most hate because it probably hurt her the least.  We got the nod to let her continue freestyle and backstroke.  But breaststroke is off-limits.  Probably forever.  Ironically – she never like that one much anyway…

We asked about the timing of the procedure.  He thought before he spoke and told us he wanted to hear what his colleagues had to say.

We pressed him for early May.  The tail end of the CYO season.  The week after her first play, “Hairspray” at school.  He told us to take it very easy.  And if she doesn’t have another bleed before then, that’s probably a reasonable time frame.

“If… Probably…”

We should be used to all this by now.  But, I think you never get used to watching your child get beat up over and over again.  That’s why we pushed to try to plan… to try to squeeze in all the normal we can.  Because she can’t keep having the fun taken away for the medical.  It’s not ok.  But, we plan very tentatively.

The speed of life can be overwhelming.

Thankfully we have so many of you along for the ride.

Next Saturday, February 28th is World Rare Disease Day.

Next Sunday, March 1st is Meghan’s first championship swim meet.  Silvers.  For the 100 butterfly – naturally.

Speed-of-life-1024x537

Good to Have Goals…

And every time I sit down to write I get distracted.  Forgive my attention issues.  There seems to be too much to attend to at once – and I have issues.

I didn’t want to go today.  I didn’t.  But I had to.  Cause it’s time.  It’s actually way past time to address the chronic, throbbing, aching in my legs.  I saw a doctor last summer when I was near the end of my rope.  That was a mess, which ended with me quite sure that a doctor with a staff that obnoxious would never be operating on me.

end of my rope

And, maybe it was for the better.  Because I never felt quite right about him anyway.  So I pulled myself together and I went to another doctor.  A second opinion.  This one was worried about an abdominal aneurysm, which thankfully was not the case, but at least he paid some attention.  “You need a CT scan,” he said.  “I need to make sure nothing vascular is wrong in your abdomen triggering all these veins to go bad. ‘ (I’ve had 7 addressed so far.)

I explained that I should only have CT scans when absolutely necessary.  I told him about the radiation risk, which is especially dangerous for those of us with a PTEN mutation when cells can misbehave and develop into tumors of all sorts with ridiculous frequency – especially when provoked.  I even explained I was allergic to CT contrast dye.

I was sent for the scan – premedicated for the allergy.  Left only to pray that the radiation minded its own business.  And the report came, and there were unsettling omissions – like checking the box that my ovaries and uterus (gone now since May 2012) were doing fine, and ignoring the large tumors being carefully watched on my spleen, and the cyst on my kidney.  I was bothered.  The doctor called to go over the report with me but didn’t have my chart and couldn’t answer my questions.  I had the report amended.  I tried to find someone else to read the disk.  I thought I had struck gold in November when a doctor took an interest in our case, but that – like all other things – was not to be.  So I waited a few more months.  When January came and I was pretty sure Meghan would not be using the February week for surgery, I called to schedule mine.  It was time to get the vein removed – starting with the right one.  Triage.

I asked if I should see the doctor again since it had been a few months.  I was told no, and given a date for the surgery.

hand in a door

Today was Pre Admission Testing at the Hospital.  I think I’d enjoy getting my hand stuck in a door more than that.  It is a mess of people who know very little asking the same questions over and over when they don’t know the answer.  Instead of Pre testing, perhaps they should call it CYA – a way to prove to everyone you were healthy before they did whatever you needed.

Stop all your over the counter medications today.

Why?

Because some of them thin blood.

Which ones?

I don’t know – but they tell us to have you stop all of them.

My probiotic thins blood?

I just have to tell you to stop them all.

sigh

We were moving along until I read the consent form.  “Left leg.”

Um… right leg…

At first she questioned me.  Then she picked up the phone to question the doctor.  The answer came with a new consent form and a request for me to see the doctor.  Tomorrow between 9 and 2.  Um, no.  How about Tuesday?  That I can do.  Cause I LOVE spending my entire vacation – every time – in a doctor’s office of some type.

And as I was leaving she said, “You forgot your chest X-ray.”

Insert speech about radiation and Cowden’s here.  As well as, why would I need a chest X-ray if I am not sick and my lungs are clear?

Right.  You can get your x-ray down the hall.

radiation

No one asked for a supervisor.  No one checked in on anything.  This woman undoubtedly knew nothing of my condition, only told me my procedure would be cancelled if I didn’t go.  For a hot second I did wonder if that wasn’t a better idea.  But, there was a kid to get home to, and a dance she wanted to get to, and so many reasons to run away, and so many reasons it has to get done.  But, in the end the pain in the legs drove me down the hall.  Where I took another, albeit small, hit of radiation to the spot where my breasts that were removed harboring early stage breast cancer once lived.  But, for good measure they put a cape on my abdomen.  To protect the uterus and ovaries THAT AREN’T THERE!

I left angry.  Sad.  Mad.  Frustrated.  And grateful.

Grateful at least that the bungling was being practiced on me and not Meghan.

Next Thursday the 19th.  It’s a minor procedure.  But, wow.  I think I need some prayers.

And them Friday the 20th it’s off to the orthopedist for Meghan

You see the MRI she had January 22nd – that I battled to have read until February 2nd- showed a decent size residual AVM in the knee.  It’s not gone.  In reality, its not much smaller than it was.  Perhaps a bit less angry, without as intense of a blood flow, but yet still 2 x 1 cm embedded in the meniscus, and aggravating all sorts of other things.

ER 11/24
ER 11/24

And just for fun this MRI showed evidence of problems in the knee itself.  Too much messing around with loose blood flow for too long.  There is some deterioration and its time for an orthopedic surgeon, the chief at a Long Island Children’s hospital to take a look.

I didn’t write the week I was ready to string up the vascular surgeon for not getting back to me.  I thought it better to say nothing, because I could find NOTHING nice to say that week.  Now,  I am calmer.  And we need him.  So I breathe deeply.  And I told his PA in my calmest angry voice, that no matter how busy they get, they need not forget there are humans, with families and real pains, and anxieties on the other end of those CD images.

In reality it doesn’t matter, because I suspect there is no good solution.  They offered us another embolization.  She recovers poorly from them.  And truth be told, they aren’t working.  And since insanity is defined as doing the same thing over and over expecting a different result – we decided to hold off a bit.

Just-Tired

Plus, there is the whole endocrine thing to deal with.  Like the TSH level that again doubled in 6 weeks on a higher dose of synthroid.  And a kid who is functioning with numbers that would level me.  So the doctor said, “I can’t explain it.”  And he won’t prescribe an alternative medication.  But he acknowledged the idea of insanity, and raising her synthroid again with no plan is definitely insanity.  So we talked about T4 (Synthroid) and how she is at the upper dosing for her weight.  And then we talked about how its the body’s job to change T4 into T3 so it can be used.  So, I asked if it was possible that her blood levels of T4 were there, but her body was flubbing the conversion, which it has done before.  If that was the case, that would explain her symptoms.  So, we added some T3 to her existing dose of T4.  And then she gets to wait 6 weeks again for a chance she may feel a but human.

Thankfully we’ve chosen to surround ourselves with positive distractions.

Thankfully 163 people are coming on Sunday to the Jeans for Rare Genes fundraiser, benefiting the PTEN foundation and the Global Genes Project.

Fortunately, my girl had influenced lots of people, and motivated them to raise awareness and support her favorite charities.

Fortunately, we have places to look to besides ourselves.

As I sit here with the seating chart to my right, and raffle prices to be typed on my left, I am grateful that there is a project.  I am humbled by my girl and her determination to be “normal,” and a powerful advocate all at the same time.

photo 4 (1)

It will all work out.  It’s got to.

We’ve got things to do…

We are BEATINGCOWDENS!

Rare Disease Day Fundraiser

Future Doctor, Meghan

If they would just listen to Meghan.

I mean really listen, and stop dismissing her.

Since before she could talk we have been working to help this kid become more aware of her body.    She can troubleshoot what works for her.  She can tell me what foods and medicines help her or hurt her.  Every day she becomes more keenly in tune with herself.  Its necessary.  That is how we keep her healthy.

My heart always gets heavy for my friends whose children, despite everyone’s best efforts can not articulate their needs, pains, desires, or emotions.  Those are the situations where doctors might miss something- even if they are trying.  Those poor children might suffer needlessly if no one can determine the source of their discomfort.

But not Meghan.  If you will listen.  She will tell you.  If you pay attention.  You will understand.

If she hurts- the whole world might know.  If she doesn’t hurt anymore, even 5 minutes later, its like it never happened.

That’s it.  Plain and simple.

So when she hurt her hand June 4th, I kept waiting for it to get better.

I played tough for a few days, but it still hurt.

Then we tried ice, heat, brace, no brace, different brace – but the pain persisted.

Dr. Jill, our Physical Therapist kept saying, “I think it’s vascular.”

Meghan kept saying, “It pulses like my AVM.”

And on we went – to the vascular surgeon, for the MRI/MRA, to the orthopedist, to the local hand surgeon.  Each one finding a reason to dismiss her, and this pain that persisted.

Pain doesn’t persist.  Not like this.  Not with her.

And, when you have Cowden’s Syndrome, any pain that persists more than 10 days consistently really should be evaluated.  You never know where those tumors may grow.

But the MRI, the three hour MRI with 4,000 images was negative. (Although I still have my doubts.)

And, Meghan calmly told the vascular surgeon she thought it was an AVM.  He said no.

As the pain mounted over the weeks that followed, and we bounced through other routine follow ups that seemed to swallow up our summer, Meghan took solace in Dr. Jill.

You can’t put anything over on Dr. Jill, but she knows kids, and she knows Meghan.

“Look at this,” she said to me.  “It has its own blood supply.  That’s why it stops hurting when she puts pressure on that mass.  She is cutting off the blood supply.”

watch me

Meghan would smile, knowing she was understood – at least by someone.

“Vascular pain goes up the arm, orthopedic pain doesn’t,” she would almost  mutter to herself.

And I knew if they were BOTH sure, then I was sure they were right.

I emailed her oncologist, and her genetecist.  I sent them pictures.  “Biopsy those,” I was told in no uncertain terms.

So Dr. Jill wrote a detailed professional letter to a local orthopedist.  I am still not sure he understood all the words.

Then there was the local hand surgeon, who read the letter, and just spent the visit looking perplexed and bothered.  The MRI report was negative, his Xray was negative, and there was this bump below her middle finger.  He sent us away – apologizing for not helping, but convinced there was no need for surgery.

That was the day Meghan coined the phrase “Donkey Butts!”  And I couldn’t blame her.

donkey-butt 2

I went right home from that visit and sent a desperate EMail to the oncologist again.  This time I asked for a referral.

She is a woman of few words.  Her reply was a link, and the words “Go here.”

hand 2

So, I called and made an appointment.  They took our out of network benefits.  We got in the day before vacation.

He looked at Meghan.  He talked to her.  He sent her for more Xrays.  They were negative.  Then he looked at her hand again.  He told her that he knows all about kids and how well they know their bodies.  He told us he treats a few boys who grow bone instead of soft tissue tumors.  He told her that the boys ALWAYS know where the problems are.  She brightened.

Then he drew a very logical picture of the hand, and traced out the main ligament and tendon.  He showed the connection from the soft tissue tumor to the painful wrist spot.  He let her feel it, and he told her she made sense.  She smiled a huge smile.

Finally a doctor who DIDN'T remind me of this one!
Finally a doctor who DIDN’T remind me of this one!

The he said to us that even though the Xray is negative, sometimes surgeons have to use their heads.  Clearly the tumor on her hand was causing trouble.  Clearly it had to come out.  Exactly what that would mean once he got in there would have to remain to be seen.  Relaxed and encouraged that someone was using their head, we scheduled the procedure and left for Disney.

Disney had its ups and downs, and one of the struggles was the frequent hand and wrist pain. Meghan is in pain so often, she can differentiate between the chronic pain, like her hips and knees, and the pain that she can’t stand, like her wrist and hand.  Chronic pain is absolutely exhausting.

Today was the surgery.

20130820-090603.jpg

We went to a LOVELY outpatient facility on 42nd Street.  The place was clean, the reception was smooth and effortless.

The nurses were darling, every one of them.

The anesthesiologist instilled comfort, and the surgeon, Dr. R was warm and calming.

The procedure lasted longer than I expected – almost an hour and a half.

time-warp

I wasn’t surprised to hear the words that have become normal. “It wasn’t exactly what I imagined, but I am pretty sure I got it all.”

A soft tissue tumor, with roots, AND an AVM (arteriovenous malformation) with its very own blood supply!

So many thoughts went through my mind – including, “SHE KNEW IT ALL ALONG!,”  and “THANK GOD FOR DR. JILL!”

I was grateful for Dr. R, his patience, his trust in Meghan, and his ability to get it done.  I was also instantly tossed into a new level of worry.  See, all along they have been insisting the AVM in the knee was an isolated incident.  I shouldn’t worry about more cropping up.  Well one just cropped up.  Game changer.

I was thinking about the rock wall she climbed June 4th, and even after all this turmoil, I am still glad she did it.  Although we now almost undoubtedly know that the AVM was under the surface all along, and the bruising her hands took caused her body to “hyper heal,” and likely led to more blood being pushed towards the AVM.  The soft tissue tumor erupted some time later.

While the exact sequence of events doesn’t matter, a few things do.

Meghan and Dr. Jill are really intuitive.

AVMs can take place in multiple spots.

Dr. R had to scrape the scar tissue off the ligament, and tendon and nerve in the hand.

Meghan will need quite a bit of therapy (after 9 days of keeping the hand wrapped) to get her mobility back.

I absolutely can not wait to get the pathology report and share it with a few doctors who blew off my girl.

And, most importantly – NEVER DOUBT MEGHAN!

meg doctor kid

I don’t know anything about “Cowden’s Syndrome…”

After last night’s late night strep diagnosis, there was no way I could send her to Bible School this morning.

But, I had an appointment with the breast surgeon – a routine follow-up that I knew would take 5 minutes.

(That is why I had scheduled it July 16th when I was ALREADY IN the city- but last-minute doctor vacations are just one of the many inconveniences of life these days.)

I knew it would take 5 minutes – after I drove through an hour and a half of traffic, parked the car, walked a half mile, and waited to be called.

traffic

Truth be told it was lest than 5 minutes.  A three-minute groping of my silicone implants and surrounding lymph nodes.  The proclamation was made that everything looks “great” and I should return in 6 months.  I actually was probably dressed and on my way before 5 minutes were up.

fake boobs

But, I HAD to go.  It would have been too easy to cancel.  It would have been too easy to blow it off.  And what if?  What if that one renegade cell…  Nope, I HAD to go.

And, Meghan had to come with me.  She trekked like a trooper to the main hospital to get another copy of the CD of the MRI of her hand for the orthopedist appointment at 2:30. Then, we traveled on the journey to the Clinical Cancer Center.  I had to push her in the push chair today.  The strep was knocking the wind out of her this morning and the hips and knees were bothering her.

push chair

It was also bothering her that people were staring at her.  So it was a great opportunity to give her LOTS of really LOUD pep talks.  I hope a few people overheard.  Some people are really dumb.  Others mean well – but for goodness sakes, don’t just stare at the child.  Say “hello,” “good morning,”  ANYTHING… UGH!  But anyway…

And after the 5 minute appointment there was another hour in travel time back home.

time-warp

Just in time to let the dogs out and run to pick up some chicken breast cold cuts for her to eat before physical therapy.

As she inhaled the chips and chicken I spoke with the therapist.  I am always just so impressed by how smart she is, and how much she actually cares about Meghan.  She took the time to READ about Cowden’s and to try to understand WHY and HOW the small fatty masses on her palm are affecting her.  If only there were more…

Right after therapy it was off to the orthopedist looking for a few answers about the hand and the wrist.

That’s where things unraveled.

Ok.  I understand it’s a rare disease.  I do.

I get that with an occurrence rate of 1 in 200,000 you may not have touched on it in medical school.

rare-disease-day-feature

But, you insisted on the paperwork completed online a full 10 days before the appointment.  You could have read it, or had someone flag it.

And, I made the appointment with the doctor who had been prepped already.

Bait and switch?

The orthopedist today was amazingly young.  I guess the big 4-0 is approaching fast, because I could scarcely believe he was out of medical school.  Everyone seems to be looking younger and younger.

No need to remind me of what that implies.  I get it.

We have seen LOTS and LOTS and LOTS of doctors.  MOST would rather make something up than admit they didn’t know something, which is a problem in and of itself.  Not this guy.

He examined her hand.  Validated the pain.  Looked at the MRI report.  Declared there to be “nothing orthopedic” about her problem.  And then he said,

I don’t know ANYTHING about Cowden’s Syndrome, so you’ll have to tell me what it is and what it does.”

Cowden's Syndrome

I almost asked him to repeat himself, but that would have just been to buy me time for my response.  So, as I was gathering my bags and looking to exit as fast as I possibly could, I gave him a brief lesson on Cowden’s Syndrome.

This doctor was far younger than me.

This is the technology generation.

Step out of the room and hit google.com

The first link is this one http://ghr.nlm.nih.gov/condition/cowden-syndrome

What is Cowden syndrome?

Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person’s late twenties.

Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability.

The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions.

Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.

Read more about Bannayan-Riley-Ruvalcaba syndrome.

How common is Cowden syndrome?

Although the exact prevalence of Cowden syndrome is unknown, researchers estimate that it affects about 1 in 200,000 people.

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Was that so hard?  Meet me half way people.

It’s still hard for me to believe that cost me a co-pay.

Let’s see if the hand surgeon on Thursday can offer us something better.

Or maybe the rheumatologist will actually call me back.

Taking bets?

Every day is a great adventure!

Exhausted