It’s Complicated…

complicated

I just ended a 30 minute conversation with Meghan’s adolescent gynecologist.  The fact that she spends 30 minutes on the phone with me speaks to a rare spark of passion for her field, and a genuine desire to help.  These are things we clutch because they are uncommon, and, when they come at all, they are fleeting.

The long and the short of the pathology, which arrived earlier than planned, was that there was no malignant finding.  Yes, you read that right.  No malignant finding. (Insert Happy Dance here…)

happy dance

And the gratitude for the prayers and positive energy was lifted up.  We truly are always aware of the potential alternatives, regardless of our situation.

But, as is always the case with Meghan, I encourage you to keep reading.  Nothing is ever really simple.  And, as the years go by it seems to get progressively more complicated.

While in fact there was no malignant finding, there was not a purely benign pathology either.  She had “the best type of hyperplasia you’d want to find.”

Except when pressed, the gynecologist admitted that there is no type of hyperplasia that you’d ever want to find in a 12-year-old, and that there should be nothing but normal cells there.

Hmmm.  Hyperplasia. Medicine.net says…. “Hyperplasia: An increase in the number of normal cells in a tissue or an organ. Hyperplasia can represent a precancerous condition.”  And various other sites say the same.  The doctor agreed.  The pathology finding was not “normal,” and therefore it must be treated.

See, hyperplasia, specifically endometrial hyperplasia might be detected in women 3-4 times her age.  It might even be expected in women 5 or 6 times her age.  But, her age is 12.  And none of this is ok.

think_outside_the_box

I pushed her about thinking outside the box, and she reminded me that the entire biopsy WAS thinking outside the box.  Any other teen would have been treated for months or more on hormones.  That could have had epic consequences.

In the short-haul, she gets to heal from an invasive procedure.  In the next week more hormones will be introduced to her body in an attempt to keep the hyperplasia at bay, and most importantly to keep it from progressing.  But, hormones, although commonly used to regulate bleeding, require special care in the case of a young lady with no thyroid, a difficult time balancing the endocrine hormones, an extremely elevated risk of uterine and breast cancer, thanks to the PTEN mutation, AND TWO first degree relatives, with estrogen fed breast cancer.

For now, she keeps her uterus.  And we hold our breath.  We hope that over the next few months things will start to calm down.  And some time in the next 6 months the invasive biopsy will be repeated over again to make sure the hyperplasia is gone or behaving itself.

repetition

To Meghan this mimics the process that took place at the beginning of the end of thyroid removal.  We had about 3 years of progressive biopsies before they decided to pull the plug and take it out.  She knows, and agrees, that we will all fight longer and harder for her uterus.  For so many reasons.  But the similarities can’t be overlooked.  Nor can the distressing notion that another body part is misbehaving.

When we were diagnosed in 2011 we were told there would be screenings and monitoring.  We even figured on a few doctors every 6 months.  At one point we dreamed of getting them all into a week in August and a week in February and living a somewhat normal life the rest of the year.

Instead, in Meghan’s life alone there have been 5 surgical procedures in the last 13 months.  Digest that for a minute, because it’s hard to keep track of.

Currently we are monitoring her thyroid levels through blood every 6-8 weeks, visits twice a year, and annual ultrasound to monitor potential regrowth.

We are monitoring her knee where the AVM resides, through twice a year visits to the interventional radiologist and twice a year visits to the orthopedist.  There is an annual MRI.  And two of those procedures in the last 13 months have been for the knee.  Add in surgical follow-up visits, and Physical Therapy.

The dermatologist needs to see her twice a year.  Not because anything has been found on her, but because in addition to me passing the PTEN gene to her, apparently her father and I BOTH have Dysplastic Nevus, a “precancerous” condition where moles have a tendency to become malignant.  Couple that with the almost 10 % melanoma risk Cowden’s patients carry, and in addition to the sunscreen, there are necessary scannings.

There is the gastroenterologist, who became necessary almost two years ago when the use of Celebrex to control the knee AVM started to rot out the GI tract.

And the ENT who was added so he could monitor the larynx to avoid unnecessary endoscopy but gauge improvement from the scary state she was in in May of 2014.

Oh, and the doctor who prescribes the digestive enzymes because they work, and no one else will.

And the pediatrician who doesn’t like to go more than 3 weeks without examining Meghan, who also keeps her on Acyclovir, prophylactically for chronic HSV that recurs on her face.

And, don’t forget the hand surgeon, who we love, (who doesn’t have a hand surgeon on the team?)  who has twice in 3 years removed vascular lesions, one from each palm.  And those surgical follow ups.

vomit emoji

Nothing is neat and clean.  Nothing is contained.  Nothing ever fit into those 2 weeks we once dreamed about.  This disease has projectile vomited all over our lives.  And it’s everywhere.  And it’s messy and gross, and we just want to take a hot shower and move on.

Because we haven’t even discussed fitting in MY appointments…

And a full-time job….

And an honor student….

Who is a swimmer….

And a theater buff….

And a community activist in the making…

All after work, and school, into the city, in traffic, and expensive parking lots, in hopes of getting back local in time for practice.

Last week I told Meghan over the Christmas Vacation we would need to see her gyn, and do her knee MRI, and my abdominal sonogram.  She was less than impressed.  The general sentiment is that we don’t get vacations, we get days off from school to go to the doctor.  I can’t argue.

overscheduled

The physical, mental, and social ramifications of this under-funded, “orphan disease” are having a profound effect on the life of my girl, and her mom and dad too.

That is one of the main reasons we work so hard to raise funds and awareness.  Maybe one day…

So tonight, we are grateful.  We are on our knees in gratitude, for the prayers that were lifted on her behalf.  We are thrilled to hear the words, “It’s not malignant,” but we are painfully aware the journey of monitoring another body part has just begun.

So if we are not shouting from the rooftops, please don’t think us ungrateful.  We are not.  We are relieved.  We took our first deep breath in weeks.  But, we did ask Santa for some new body armor, polished and ready for the new challenges PTEN Hamartoma Tumor Syndrome, (Cowden’s Syndrome) are actively placing in our way.

We ask that you continue your prayers, and continue to educate yourself about genetic cancers, orphan diseases and people like us, left to be our own advocates, in a world that isn’t overly concerned with how our story shakes out.

While we are in transit, to and from a lot of places we’d rather not be, we talk a lot.  Most of it is complicated.  But some of it, is quite simply about how a 12-year-old with a vision is going to change the world.

life goes on

 

Come join us on FEBRUARY 21st as we try to draw attention to Rare and Genetic Diseases! Beating Cowden’s Fundraiser LINK – PLEASE HELP US SPREAD THE WORD!

Time with "BOB" our favorite entertainer...
Time with “BOB” our favorite entertainer…

Dear Cowden’s Syndrome,

I’ve wanted to talk to you ever since you rudely introduced yourself to my family in 2011.  Actually it wasn’t even a proper introduction.  It was more like, “I’m here.  I’m staying.  What are you going to do about it?”  In hindsight, you’ve probably been with me from the very beginning, an explanation for the years spent in surgery for random growths all over my body.  And you know what?  I could have kept quiet about things.  I could have plodded along removing lumps and bumps as they surfaced, praying they remained benign.  But, you crossed a line.  You messed with my girl.

I went all those years not knowing.  I never understood why I seemed to spend an inordinate amount of time in doctor’s offices, generally being made to feel like an idiot for things they could not explain and did not understand.  But, I’m a mother now, and mothers get over those things because nothing is more important to them than the health of their children.

So when my then 8 year-old was introduced to you at an incredibly tender age, the mother beast in me came alive.  Before I could even contend with your existence I had to run damage control and get out in front of the storms you were plotting and planning.  I had to read and research and learn, because with an occurrence rate of 1 in 200,000, I typically knew more than any doctor we met.  And with our PTEN (tumor suppressor) gene officially listed as broken, the words cancer, cancer risk, and potential malignancy became part of our every day vocabulary.

That entire first year I was sure we had lost our very existence to the routine screenings you require.  A doctor for every body part, and a pediatric and an adult version of each no less.  Scheduling was a nightmare.  It’s a wonder I kept my job and my sanity.  And my girl, almost like a deer in headlights, tired of being poked and prodded and treated like a pincushion was getting plenty annoyed.  She’d already had 8 surgeries, and a ridiculous number of biopsies and MRIs before we met you.  Now there was this road ahead that was just flat out exhausting.  There were worries heaped upon worries.  And it got old real fast.

Our friends have tried to hang with us.  And they are an incredible lot.  But, it gets tiresome to hear that things just keep on coming, and that nothing here is “all better.”  Understandably, many of them have had to pull back.  Their own lives are busy.  Things continue, and just because you want to have your way with us, the world can’t stop spinning.  We miss socializing.  We miss casual get-togethers.  It’s hard enough to even visit properly with our family in between appointments, and hospital stays and the few activities you haven’t taken from my daughter.

Let’s talk about that for a minute.  Let’s talk about the pain.  The unforgiving knee pain that affects every aspect of her life.  Let’s talk about having to quit soccer in 1st grade, and dance 2 years later.  Let’s talk about her desire to run track that can never ever be.  Let’s talk about my girl, born with the heart of an athlete who keeps getting the rules changed on her.

The knee!  The right knee.  The one that has hurt since birth.  The one where the AVM (arteriovenous malformation) was supposed to be resolved in or or two embolizations.  Until they learned of you.  You would be the reason it continues to plague her, change the course of her life, and cause her undue agony on a daily basis.  You would be the reason the 5th attempt to fix it in November after 50ccs of blood leaked into her knee joint essentially failed.  You would be the reason we are awaiting a 6th surgery on the knee.  This one with the orthopedist and the interventional cardiologist at the same time.  One will assess the damage from all this blood, and the other will have another go at this AVM.

The AVM.  The likely reason the feet are now a size and a half apart.  Continuing to make life easy for my girl aren’t you?

And while we’re at it, let’s talk about the thyroid.  The 19 nodules you allowed to grow there, until “precancerous” prompted complete excision.  We beat you.  We got it out in time.  But, it was real close, and I didn’t like it one bit.  And as payback, 13 months later, the synthetic hormones still leave her chronically wiped out, and running on raw nerve.  The endocrinologist is confused.  He offers no explanation as to why it’s not ok.  They offer me no answers about the effects on the body.  Because they don’t know.  You’ve kept them confused, and it’s wearing on my nerves.

But, you know what?  You won’t win.  Not here.  Not in this house.  Not with my daughter and I fighting you every step of the way.  We like to call ourselves “Beatingcowdens,” because we are.  And we will continue to.

See, you messed with the wrong women here.

After we dusted ourselves off and learned to schedule the screenings and tests and surgeries on OUR time, we started to breathe a little.  There are so many.  But, they don’t OWN us.  Plus, I went on ahead of you and got some things removed.  That “prophylactic mastectomy” that turned into “thank goodness she got that DCIS we didn’t know was there out in time…”  well, that was a HUGE win.  And the hysterectomy before the uterine polyp could change its mind from benign to malignant.  Winning.

My daughter has decided to become an advocate for rare diseases.  Her work has begun small, out of a need to educate the people who judged her for sometimes needing a wheelchair to contend with that knee.  It started with some business cards that explain what Cowden’s Syndrome is.  It blossomed into assemblies at school, newspaper articles, and a friendship with our Borough President.

She took to the Global Genes Project, and their logo, “Hope, It’s in our genes.”  She had a friend make a denim ribbon necklace.  And “identity piece” for her.  She learned about all the rare diseases she could, and how so many of the babies who can’t speak for themselves need our help.

She embraced the creation of the PTEN Hamartoma Tumor Syndrome foundation in 2013.  She carries hope that one day their work will affect change directly in our lives.

She met up with friends through my online connections.  She corresponds with Colorado and Australia.

In February, with only guidance from me, she organized a “Jeans for Rare Genes” fundraising breakfast that generated $12,200 for her two favorite charities.  Over 150 people attended that event.  Community support was overwhelming.

Oh, and the heart of an athlete you tried to take from her… you lost there too.  She is a swimmer now.  And this year she qualified for Silver Championships in the 100 butterfly for her age group.

So, despite what you may have tried to do to our lives, you are losing terribly.  You are something we will have to deal with for the rest of our lives, but you will NEVER own us.  You may try to be pushy. You may be downright rude, hurtful and insensitive at times.  But, that’s OK.  We’ve handled worse than you, and we’ve come out just fine.

As a matter of fact, maybe I should say thank you.  Thank you for lighting the fire in our bellies.  Thank you for helping us find our self-confidence.  Thank you for giving us the fight that forces us to never ever give up.  Thank you for teaching us that we can make a difference.  Thank you for empowering my beautiful young lady with a forceful strength that WILL change the world.

You’re not the boss of us.

Forever we remain,

BEATINGCOWDENS!

Lori & Meghan

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RFTC 2013B

It’s not malignant… BUT…

It was an interesting phone call this afternoon.

I knew from the caller ID that it was going to be the hospital with the pathology report.  Home on a snow day, relaxing with the family – I took a deep breath.  It was the endocrinologist on the other end of the line.

“I have the results of the pathology…”

AND???

“The samples are not malignant, but…”

YAY, and UGH!

And there followed a conversation that lasted several minutes.  I tried multiple times to use the word “benign” to refer to the results.  Each time I was carefully deflected.  When he spoke he never said “benign’ once – only “not malignant.”  Synonyms – yet apparently not interchangeable.

Someone less in tune might have missed this conversational nuance.  I don’t miss much when it comes to my daughter.

So the doctor recounted how each off the 4 cell biopsies obtained through the Fine Needle Aspiration, showed cells that were “not malignant.”  When I asked about the cells, specifically remembering the “precancerous” title given to the cells that had brought us to this hospital to begin with, he told me again the report says they are, “not malignant.”

SO WHAT’S NEXT?

whatplan

I know I didn’t imagine the deep breath on the doctor’s end of the phone when he began, “Typically, we would follow the case in 6 months with an ultrasound, and I think you should make that appointment.” Then there was a deep breath and a pause.  “I also think you should take her to see a surgeon – just for another pair of eyes.”

Now I was thoroughly confused.  “Why? Do you think the throat clearing that has been going on could be related to the nodules?  What about the Fine Needle Aspiration?  How accurate is the test?”

He addressed one question at a time.  Almost as if he expected them.  He and I were not fast friends, and he often seemed annoyed by the countless questions I ask.  It never stopped me, but I couldn’t help but notice he was almost anticipating my questions today.  Maybe he was even welcoming then.  I flashed back to that visit on December 19th where he was visibly uneasy about the feel of that right thyroid.  “The FNA is accurate 90-95% of the time.  Usually that is not an issue because thyroid cancer tends to grow very slowly and if we follow every 6 months, we will typically catch anything we need.  That being said, in a situation like Meghan’s where there are so many nodules, and there is Cowden’s Syndrome, it sometimes is harder to manage. In regards to the throat clearing – I don’t THINK it’s caused by the nodules, but again I can’t be sure.  Why don’t you set up a consultation with the surgeon?”

confused-face

Deep breath.  It’s good news I kept reminding myself.  It’s not cancer. (Yet… nagged the little voice that never knows when to shut up.)  I reassured him that I would schedule the appointments with him and the surgeon.  Of course after I arranged to have the pathology and ultrasound reports Emailed to me so I could agonize over every detail…

I scheduled the appointment for the first week in June.  I tried for the first week in July – but he is on vacation that MONTH…  Then I sat down to Email Meghan’s hematologist/oncologist the reports and ask her opinion.  She concurred with the endocrinologist and approved of his choice of surgeon.

Within 45 minutes my phone rang.  The caller ID showed the hospital number again.  This time it was the surgeon’s office.  They were contacting ME, at the doctor’s request – to set up a consultation for Meghan.  Well I have to tell you that didn’t do a whole lot to ease my mind.  Obviously it was nagging at the doctor enough that he reached out to be sure I made the appointment.  Scheduled.  February 25th.  I couldn’t get a time because they call the day before with that.  So, I explained how much I really NEED to be at work.  They made me no promises.  The 25th it will be.  Regardless of the time.

The snow was so pretty today.  So nice to be home as a family, to shovel, to play, to take some pictures, to watch an old movie.

I sat down to type this almost three hours ago, but somehow as Meghan was getting ready for bed she developed severe pain in her back and a ruthless headache.  Reminders that even an hour or so in the snow is too much for her body to endure.  Frustration.  Fear.  Two hours at her side, her father and I alternating pressure on the most painful spots.  She’s asleep in my bed now.  Moaning.  The night will be long.

frying pan fire

Some time this afternoon I realized again, that this is just how its going to be.  We are going to walk out of one fire, while walking around another.  We aren’t going to know the hows and whys.  We aren’t going to be able to make many plans despite our best efforts.  This is life with Cowden’s.  This is our life.

And tonight, as I held my husband’s hand, and we each had one hand helping soothe Meghan’s agony, I realized again that through the depth and power of our love for each other – all of us – this works for us.  It’s not what I would have chosen, but it’s what we have.

Never in my wildest dreams could I imagine a day without the two of them.  Somehow, that has to make us the luckiest family in the world.

think happy thoughts

And that is my happy thought tonight.

Happy New Year!

Collateral Damage

In regard to surgery and absences – this year has been much better for both of us… Maybe some things are looking up. (Published June 8,2012)

beatingcowdens

Collateral damageoccurs when something incidental to the intended target is damaged during an attack. (Wikipedia)

 

I don’t think it’s far-fetched toequate Cowden’s Syndrome to a war.

Our bodies are under attack.  This PTEN (tumor suppressor gene) is broken, and we are being bombarded with cellular overgrowth in the form of all sorts of tumors – benign and malignant. 

We spend our days, (and some of our nights) strategizing on how to prevent, fight, or get rid of these tumors.

It can be an all-consuming job.

When we have to have the tumors removed there is the recovery time, which can seem endless.  The battle scars, which forever change the landscape of our bodies also take some getting used to.

There is the financial drain, from lost wages, and the endless battles of medical bills are a war onto themselves.

There is…

View original post 337 more words

BENIGN!!!

I headed home at lunch with the need to send out this message of thanks, to those of you who thought about us, prayed for us, and kept us close to your hearts.

I spoke to the nurse this morning.  She said the pathology was BENIGN!  I don’t think I heard much else she said, as the tears just started flowing.

We are not, nor will we ever be “out of the woods.’  They will scan her thyroid every six months indefinitely.  But I am learning with Cowden’s Syndrome to accept the “6 month leash” as a win.

Right now she does NOT have thyroid cancer.

Right now she does NOT need the thyroid removed.

Although the MOM in me in some ways wants it gone BEFORE they ever tell me its malignant, I do understand the doctors reasons for waiting.

So, with a renewed appreciation for the power of prayer, and a belief that we have MANY guardian angels watching over us… I say THANK YOU ALL.

It’s not all about us

And this is how the day started.  With thoughts of Friday.  Never a good way to start the week.  I am not one to try to wish my life away, but is it so wrong if I prefer days with my family over anything else in the world?

But, we got it together and got out of the house on time. 

Waiting for Meghan to get on the bus, a car doing about 65 speeds down our street.  As I refrain from the words I want to yell, I quickly say a prayer to myself – that his stupidity and selfishness doesn’t bring harm to anyone else.  I am always appalled – and I don’t care how late you are – by the callous disregard for human life it takes to speed past a school bus.  UGH!

Pretty much that sums up how the day continued.  There is a sense of urgency in everyone it seems – except about what really matters.

Now I don’t claim to have it all together all the time.  And I don’t claim to be free of frustration.  Nor do I deny that the ,”Why Me?” bug does bite us all here sometimes.

But, I am still amazed by people who are so narrow-minded that they can’t see the world from someone else’s point of view.  I am still deeply troubled by people who won’t take a minute to try to put themself in someone else’s shoes.  And I am horrified by those so self – absorbed that they speed past school buses, and generally have little regard for human life.

Maybe that’s it.  Maybe I feel like too many people don’t realize how precious life is.

I don’t mean it as a morbid thought – but it really is true.  I look at my grandparents, still married  – 67 years later at 92 and 93, and they always kiss each other goodbye when they go out.  I would hope they will be with us forever, but reality is what reality is, and they take a moment to express their love – often.  So many people could learn life lessons from my grandparents.  They are role models to be emulated in so many ways.

Ist Holy Communion 2011, with GiGi and Pop

It shouldn’t take a rare disease.  Cowden’s Syndrome or any other are not prerequisites for compassion.  You shouldn’t need to have cancer, or multiple surgeries, or scary benign tumors, or to live in fear of any of the above, before you realize the value of life.

We are in a waiting period here.  No major new doctor news.  The headaches Meghan was suffering with have subsided, but I still need to get a neurology consult together for her.  The joint pain is returning, slowly, one spot at a time.  It is manageable still, but the requests for supplemental pain medicine are starting to take place at least 3 times a week.  Hoping that the 100mg of Celebrex will be enough to keep her comfortable, maybe until they find the reason for her pain.  We go to the eye doctor in 2 weeks.  The cardiologist is the beginning of December.  He will hopefully tell us that the one too many prescriptions required to keep my little love functional are not harming her heart.  Then – on the 27th of December – its on to the endocrinologist to check those thyroid nodules.  That same week we will sneak in an MRI of my spleen (which, I am still KEEPING btw..)  But, for now we are in a holding pattern and it is a good place to be.

Of course, being in a holding pattern gives my girl time to think.  While we wait word on the necklace from the Global Genes Project,

she is already planning our next fund-raising adventure.  I am currently on the hunt for denim ribbon so she can outfiit her school in denim ribbons for “Rare Disease Day,” February 28th.  And, with a few whispers in her ear from a special third grade teacher, she has begun to ask if we can “pull off a 5k run” for the Global Genes Project.

So, I put a few feelers out.  We will keep you posted.

I will be practicing looking at the world through the bright eyes of my child.  She sees a lull in doctors as an opportunity to spend time helping others.  There has to be a bunch of lessons there.

Take a minute to breathe.  Time passes so quickly.  Hug a loved one.  Look at the world through someone else’s eyes.

I have always known these things on some level – but Cowden’s Syndrome has brought them to the forefront of who I am.

Collateral Damage

Collateral Damage (film)
Collateral Damage (film) (Photo credit: Wikipedia)

Collateral damage occurs when something incidental to the intended target is damaged during an attack. (Wikipedia)

 

I don’t think it’s far-fetched to equate Cowden’s Syndrome to a war.

Our bodies are under attack.  This PTEN (tumor suppressor gene) is broken, and we are being bombarded with cellular overgrowth in the form of all sorts of tumors – benign and malignant. 

We spend our days, (and some of our nights) strategizing on how to prevent, fight, or get rid of these tumors.

It can be an all-consuming job.

When we have to have the tumors removed there is the recovery time, which can seem endless.  The battle scars, which forever change the landscape of our bodies also take some getting used to.

There is the financial drain, from lost wages, and the endless battles of medical bills are a war onto themselves.

There is also the  battle of trying to feel well all the time, while convincing people that this is a legitimate illness, and you really are sick.

This is a war my daughter and I are fighting together.  Each on our own road, but we are battling the same enemy.

Like in every war it is inevitable that there is collateral damage.

Haughton play park 20070602
Haughton play park 20070602 (Photo credit: Wikipedia)

  Today was the 3rd grade play at my daughter’s school.  It was also “Family Fun Day,”  where the parents and children in the entire 3rd grade head to a local park and spend 3 hours chatting, playing and sharing a picnic lunch.

It was about 82 and sunny here today.  The weather hasn’t been this perfect in weeks.

And I, I was at work.  My daughter was at “Family Fun Day” with some very caring mothers of the friends she has in her class.

How is this all connected?  Very easy.

If I were not me, fighting Cowden’s Syndrome, and all its ramifications, and taking care of a girl who is also fighting it… maybe I could have been there.

Instead, I missed 4 days of work for her AVM surgery, 24 days for my double mastectomy, 12 days for my hysterectomy, and when there are only 183 school days in the year, you can see the percentages aren’t good.

I got permission to go in an hour late.  I got in to see the dress rehearsal of the show.  I stole 10 minutes on my lunch to drive by the park.  And I spent the whole day thinking how nice it would have been to just take a personal day and hang with my kid.

She is such a good girl.  “Don’t worry Mommy, I understand.  I am so glad you are feeling better, and I know you need to get back to work.  Maybe next year we will all have less surgeries, and then you can come?”

Collateral damage – my girl having to grow up so damned fast.

I really do hate this disease.