Tag: PTEN

“The Velveteen Rabbit”

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by Margery Williams

“Real isn’t how you are made,” said the Skin Horse.  “It’s a thing that happens to you….

…”It doesn’t happen all at once,” said the Skin Horse.  “You become.  It takes a long time.  That’s why it doesn’t happen often to people who break easily, or have sharp edges, or who have to be carefully kept.”  Generally, by the time you are Real, most of your hair has been loved off. and your eyes drop out, and you get loose in the joints, and very shabby.  But all those things don’t matter at all because once you are Real you can’t be ugly, except to people who don’t understand…”

I spoke to the oncologist today, about my MRI.  She had really no better or clearer information than the nurse I spoke to Friday.  The harmatomas are large.  There are several.  They might be able to stay, they might not.  She requested the sonogram from April to see if it is worth a comparison.  I will get the CD and the reports and send them along.  I will let the doctors again analyze the same few articles on Cowden’s Syndrome that exist.  I won’t tell them that I have likely read all of them myself too.  I will let them tell me if the spleen stays or goes.

I think it is that conversation, combined with the one I had with Meghan that brought the story of The Velveteen Rabbit to my mind tonight.  As we are buying clothes for school and trying to keep her quickly developing body comfortable and appropriate, she asks about my scars.  There are quite a few, the lipoma in my neck, the partial thyroidectomy, the C-Section, the hysterectomy, but she focuses on the mastectomy. and the scars from the reconstruction.  She asks sometimes to see them even as they are covered.  She asks if she will get to decide when to have that surgery.  “IF” I stress, “IF!”  You don’t know…  But she knows.  She is preparing already for the day it is her turn.  It twists my stomach in a knot.

We have had between us more than 25 surgeries, large and small.  We have scars of all sizes – inside and out.  But we are “Real.”  In a deep, important sense, we are “real” to each other.

I am in limbo… waiting.  But it is ok.  I live in a house where I have become “real.”  And, even on my darkest days, “…once you are Real you can’t be ugly, except to people who don’t understand.”

Whose afraid on an MRI? Not me – practice makes perfect!

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MRI

So as I was positioned to be rolled into the MRI tube today, I realized my heart wasn’t even racing.  Not that I ENJOY an MRI, it’s just they have become so familiar that they no longer provoke the anxiety they used to.  I have held onto Meghan‘s shoulder through countless knee MRIs, and this past year have had quite a few of my own.

Today it was an abdominal MRI.  Now if you have been following the story at all you know my abdomen is missing a few things.  You may or may not know that there is also the issue of a harmatoma (basically a fatty tumor) on my spleen from this PTEN harmatoma tumor syndrome.  Yep, that’s the other big fancy name for Cowden’s Syndrome – or more technically it is the umbrella term that covers Cowden’s and several other syndromes.

So, why the MRI?  Well among the other neat cancers that seem to come with this genetic mutation, is renal cell carcinoma.  A recent study, the same one that put the lifetime breast cancer risk at 85%, placed the risk of renal cell carcinoma in Cowden’s patients at 33% Yep, quiet old kidney cancer – hiding there until it causes you a problem.  So, they like to screen for it – twice a year with an abdominal MRI.

http://www.ncbi.nlm.nih.gov/pubmed/22252256

Part of me wishes they could just do the kidney.  You see I have this theory about taking the used car to the mechanic…  You just sometimes find out more than you wanted to know.

OK Used Cars

 I really am not in the mood to lose any more organs.  I think I have reached my quota for the year.  And I have to tell you, this is one hell of a way to lose a few pounds.

So, somtime tomorrow or Monday the oncologist will call me.  She will tell me that the kidneys look great.  She will tell me that the harmatoma on the spleen hasn’t grown, and it can stay right where it is.  She will also tell me that the stones they saw on ultrasound in my gallbladder a few months ago are no problem at all.  She will tell me all that because that is what I need to hear.  And hopefully it will all be true.

I need it to be true.  Because I will be busy.  An appointment right before the MRI with a new GI set me up for the “necessary” screening endoscopy/colonoscopy on September 18th. The risk of colon cancer is a meager 9%, up only a few % points from the general population, but no point leaving any stone unturned I guess!

Some days I wait for the break.  The time when we will be without doctors.  Then I realize this is all so new.  They are all so scared and confused they are doing all they can when they scan this, study that…  Hey, it worked for me when they saved my life with the breast cancer.  And, it will work to keep my girl safe as we scan her thyroid religiously.

I am tired.  I would be lying if I said anything else.  I am TIRED of doctors.  But, as I said before… I will keep going, necause there is no choice.  Plus, “Everybody has SOMETHING!” https://beatingcowdens.wordpress.com/wp-admin/post.php?post=693&action=edit

At least I am not afraid of the MRI tube anymore!

The Carousel of Life

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How can you tell if it’s really progress?
When we were in Walt Disney World, one of the rides we went on was “The Carousel of Progress.”  Now I must admit this isn’t one of my all time favorites, but it does serve to cool you on a hot August day, and provide some food for thought.

For those of you who have never been, it starts out in the early 1900s and has several scenes detailing progress through the years.  Of course, with all progress, there are a few snags along the way.

The state of the art kitchen in the mid 1900s, looks nothing like the state of the art kitchen in the 21st century.

 

 

 

 

 

 

And I think the lesson to be learned by those of us cooling off in the comfortable Air conditioning, is that with every new change, we lose a bit of the old.  It is often beneficial, and frequently necessary to improve, but we need to keep an eye to where we have come from so we don’t lose ourselves.

So why was this on my mind – aside from sorting out the Disney Photos?  Today was a doctor day  – again.

Today we took a 2.5 hour (should have been 75 minutes) road trip to Long Island to see Dr. E.  People ask me all the time who he is, and why we see him.  Well, the truth is, he is kind of our “think outside the box” doctor.

We first met him in 2005.  Meghan was severely delayed in many areas.  Her behavior was at times scary, as she was having fits of rage that were tough to manage.  She was bloated, and her belly was in terrible shape.  She wasn’t speaking much, and her speech and occupational therapists were starting to whisper “autism” to me.

Not feeling at all like that was where she was, we headed to see Dr. E, a DAN! (Defeat Autism Now!) practitioner.  He had been a pediatrician for over 20 years and had recently made the change to treating children with biomedical interventions.

It was a scary commitment to see such a doctor.  There was no insurance at all, and the initial out of pocket fees were frightening.  But when we sat and spoke with him, and he told us about the ways he was going to help Meghan – he meant it. 

It is 7 years later.  My daughter is a far cry from that sensory sensitive, sickly, silent, little girl we brought him in 2005.  We have gone through countless lab tests, various diets, vitamin and mineral supplements, prescription and non prescription medication.  He has seen us through her gall bladder attacks, and has answered my texts and Emails at the most obscene hours.

Progress.  At a cost.

Not just a financial cost, but an emotional one too.  And now we hit a crossroads again.  Progress is at a standstill in many ways.  (Not in the bright, articulate, funny girl, but in other ways people don’t see.)  The strep is returning to life on a regular basis.  Her development is not agreeing with her hormone tests.  Her belly bothers her, and she needs medicine to help her sleep.

I spoke with him at length today.  He wants me to see a very intelligent nutritionist in NJ for a very specific test.  It will uncover some of the “mysteries” we are missing, he says.  We are past the point where we can look at her and treat her.  She appears well, but there are too many things that don’t make sense.

What about the Cowden’s I ask?  What about the PTEN?  Isn’t that the cause?

To which he gives me the honest, “I don’t know.  There isn’t enough research.” 

But, he insists what he does know, is that we will gain a wealth of information from this test.

It is costly, and there is no guarantee the insurance will cover it.  But, she is worth it, and we will likely set it up.  The question is when?

School starts in a week and a half.  I have 2 appointments tomorrow, she has 2 Monday, and another Weds.  There comes a point where we have to stop running like this.

The Carousel in Ocean City, NJ

When I was a little girl we vacationed in Ocean City New Jersey.  I used to like the carousel, but I wasn’t as daring as my sister – who would lean over and reach out for the rings.  I liked to hold on – tightly.

Some things haven’t changed.

I think about this carousel as well, moving in circles, sometimes seeming to get nowhere.

I find all these appointments all consuming, almost overwhelming.

Then I stop and think – it’s not about getting there, it’s about enjoying the ride.

Progress will come…

Fireworks in My Heart

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After 12 years of marriage, I still feel fireworks for my husband!

When we were vacationing at Disney World, we stopped one night to see the beautiful fireworks show at EPCOT.  My husband captured a few great shots, as I sat with Meghan and watched the show in awe.  It was such a wonderful, peaceful, “normal” night, and I relished every second.

I watched my husband, practicallly laying on concrete to take photos – partially because he loves photography, but also partially because he knew I was photo obsessed this trip – and I couldn’t help but think how much I adore him.

Those wild days of dating and hot romance have toned down into a sense of companionship, but there is still plenty of passion in our lives.  He can give my stomach a flip with a touch, or a hug; with a quick kiss or a slow one.

I loved him soon after we met.  I loved him more when we married, but I never could have imagined I’d be this in love.

He has held my hand this past year alone, as we watched Meghan be wheeled into surgery for the 9th time.

He lovingly drained my drains after the mastectomy.  He held me, and reassured me.  He told me I was still beautiful, and even helped me believe it.

And, when it came time for the hysterectomy I spent many nights in his arms listening to him repeatedly explain what I already knew – “You are more than the sum of your parts!”

From the start of this whole Cowden’s Syndrome mess, his ONLY concern has been keeping us safe and healthy.  He is my biggest support system, my cheerleader, and my safety net.

I have been blessed in so many ways, but I truly feel this PTEN mutation, helped strengthen an already solid marriage.

He goes back to work in a few hours, and I couldn’t be more sad.  My happiest times are when we are a family of three.

The loves of my life!

Persistence…

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Photo came from Google.com

My daughter found this photo the other day.  She was searching “funny dog photos,” and stopped when she reached this one.  She came to me and said, “Mom, I think you will appreciate this.”

I don’t know whether I was more impressed by her ability to know that I would in fact get a good chuckle out of this, as it seems to be the story of our lives, or by the photo itself.

Ingenious really.  People do this.  They create these photos, and some seem silly or insignificant.  Until there is one photo, phrase or saying that you really relate to.  Then somehow it all makes sense.

As we turn the corner of summer into August, I know we still have a few weeks of vacation left, but I start to reflect.

School begins for me on September 4th, and for Meghan on September 6th.  When we share our summer vacation stories, what will we tell?

We snuck in some fun.  There were some play dates that were a blast.  There was a trip to the beach, even if only for a few hours.  There was swim class, and dance class too.  There were books galore – read just for fun – far after the three she “had to” read.

But this year there was no camp.  And it was strange.  I missed the schedule a bit, but it was a necessary break – for both of us.

Practical reasons wouldn’t have allowed much attendance at camp.  We were at too many doctors.

Darn Cowden’s Syndrome.  Check this, scan that, see this doctor, make sure that is ok.  Multiplied times two it could be a full time job.  But, since I have a full time job, that I missed an obscene amount of days from last spring while my body parts were being cut away – summer is for all the doctors that we can squeeze in.

Ironically, no one really answered too many more questions. 

Persistence.

Before the end of August Meghan will have had 8 (very productive) Physical Therapy sessions, 3 visits to the pediatrician, a trip to the vascular surgeon, the rheumatologist, the oncologist, the geneticist, the orthodontist, our “second” pediatrician, and she will have had an MRI and 2 sonograms.

I didn’t do so badly myself.  I will be able to boast 3 surgical follow up appointments, 2 trips to the dentist, a visit to a new oncologist, which leads to a visit to a GI doctor, and abdominal MRI, a dermatologist for a skin cancer screening, and a visit to the thyroid surgeon.

And those are just the ones SCHEDULED through the end of August.

Persistence.

Not sure where it will get us.  All these doctors.  I will get them on a nice schedule though.  Start to consolidate.  Double up days.  Next Tuesday I have 3 appointments in a row.  Why waste time?

They want us to add the cardiologist back in.  Just to be safe they tell me.  Everyone is so busy covering their own ***, they often miss the important stuff.

I get that the screening needs to be, and that it needs to be intense.  It could be argued that this intense screening saved my life.  But there is still such a need for doctors with a clue.  Doctors who care.  Doctors who connect the dots.

Persistence.

Although some days I feel like the dog, digging through the concrete… I do believe it will all pay off.

Actually, it already has.

So maybe it isn’t the “perfect” summer, but its a necessary one.  Me and my girl…. together.

Disney – 2009

Stick Your Face in an Air Conditioner and Deal With It!

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Window air conditioner, from left side

Maybe that should be the slogan for 30 something (ok closer to 40, I know) women who have been thrust into menopause.  Kind of like the equivalent “Put on your big girl panties…”

Estrogen loss and menopause.  Two more things I can thank Cowden’s Syndrome for, as I learn all the side effects connected with both – one at a time.   At least I can relate to… well, not really ANYONE in my age bracket.  But that’s Ok… I am getting used to it.

Fortunately it hasn’t been THAT bad yet, but I have found myself a little sweatier than normal, and I have been known to stick my face in an air conditioner lately while throwing an ice cube down my back.

I am not one to complain too much, but really, the reality of this one took a little time to catch up with me.

Yeah, I know it had to go.  Blah, Blah Blah… Cowden’s Syndrome, uterine cancer, suspicious polyp.  I get it.  Oh, and your ovaries are way too big, too many cysts, let’s take those too.  Sure – why not?

Nothing would have changed if I had asked all the questions in the world.  It had to be done.  And I am learning sometimes it is better not to know everything at once.

So, I am hearing words like calcium supplements, bone scan, and osteoporosis, while I have friends my age going for 20 week ultrasounds.  Don’t misunderstand me.  I never wanted another baby – but it just seems wrong.  Like I have warped into a different reality.

That’s what these last few months feel like sometimes.  A bad sci-fi movie.  I am the girl who gets all her body parts cut out, one or two or three at a time. 

I wonder how it ends. 

And, most importantly I hope the movie theater has air conditioning.  It’s HOT in here!

What do these three have in common?

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Many simple species, such as the star fish, have the ability to regenerate severed appendages. [©Jupiter Images, 2008]
Many simple species, such as the star fish, have the ability to regenerate severed appendages. [©Jupiter Images, 2008]
The leopard gecko, like many other lizards, is able to voluntarily shed its tail as a strategy to escape predation. These lizards are able to develop a replacement appendage through epimorphic regeneration that resembles the original, complete with nerves, blood vessels, and skeletal support.
Days after the tonsils were removed in 2008

So, what do these three have in common?   Give up?  I bet a few of my Cowden’s Syndrome friends could guess…

They all can regenerate tissue that has been removed!

Except the first two tend to do it in a much more productive way.

I had heard tell that lymphoid tissue (especially the thyroid and tonsils) could regrow – especially in Cowden’s Syndrome patients.  (It makes sense in a way, PTEN is a tumor suppressor gene that is broken, so cellular overgrowth is common.) But, I chose to ignore it.

Sometimes ignoring things for awhile allows you to deal with other things.

When Meghan had her tonsils and adenoids COMPLETELY removed in May of 2008 she was in the middle of a 12 week strep infection.  Three months of antibiotics, and they were still pulling “heavy positive” cultures every 2 weeks.  By the time they were to be taken out she was admitted for several days of antibiotics prior for fear of rheumatic fever.  She was a chronic, almost constant strep sufferer.

Then for about 2 years – nothing.  No strep.

I don’t remember the first time it came back.  It was about 2 years ago.  A full year before I ever heard of a PTEN mutation, or had any idea what Cowden’s Syndrome had in store for us.  I thought it was odd, the strep coming back without the tonsils, but I chalked it up to a rotten immune system.

Slowly the cases have become more frequent.  It is almost constant.  We don’t leave the pediatrician without a throat culture and a script for an antibiotic.  Not all the cultures come back positive, but you can tell.  The food avoidance, the tough time swallowing, the swollen glands, the puss in the throat.  You just know.

Lately it has been about once every 3 weeks.  Way too many antibiotics to be good for anyone, but strep is way to serious to ignore.  So, we keep treating, and wondering.

Today we had a routine visit to the oncologist.  I mentioned the strep.  She looked in the throat.  She said, “Have you ever considered having her tonsils out?”

That’s when I knew we were in trouble… again.

Guess I should schedule that visit to the ENT!

No Regrets

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Photo found on the Facebook Page “Perpetual Optimism”

Isn’t that just the truth??  Goes along with the idea that “Everybody has Something.”  Now if we could all just find a positive way to channel it.

Not always so easy.  I cried today.   I finally found a nice oncologist who takes my insurance.  I saw her on Tuesday, but she wants me to get right on scheduling the colonoscopy.  So I called to set up the appointment with the GI doctor and the first appointment was the day after our vacation.  As I hung up the phone cried – overwhelmed by ANOTHER doctor, ANOTHER appointment.  But it was my very smart Meghan who said, “Mommy if it is going to make you cry, just make it the next week.  You can still go, just a little later.”  I rescheduled.

My girl is in bed.  Sick and feverish.  We ducked an ER visit tonight, and am hoping to do the same tomorrow.  Along with the Cowden’s she just has a rotten immune system.

Who knows what tomorrow will bring, for any of us?

Tonight I will not be angry about the past, the diagnosis, the syndrome that has taken so much of our time, freedom, and spontaneity.  I will instead be grateful.  For the geneticist who cared enough to find me an oncologist when I couldn’t.  For the pediatrician who has called 3 times since we left his office at 2.

This past year has changed us, for sure.  Cowden’s Syndrome has transformed us into different people.  But I will never look back at this last year with eyes of regret or sorrow.  I look back with gratitude.  For the health I have, for the friends that have stood by me, for the new friends I have made, for my family.

Constantly changing, none of us are ever the same.   The question is WHAT do you want to change into?  I know what I pick…

Image credit google.com

I Am Blessed

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This cartoon is on the front of Meghan’s 4 inch medical binder. We have sometimes decided whether or not to keep a doctor by their reaction to this TRUTH!

It is late.  I should be asleep.  Morning comes fast and it is already after midnight.  I just can’t seem to find a way to unwind. 

I just had a long chat with a ‘new” friend.  That helped a lot.  But still here I am, trying to get these racing thoughts out of my head before I rest.  

I saw a new oncologist today.  The geneticist insisted I have one to follow me and one for Meghan.  Except I was having a hard time finding one who didn’t think Cowden’s Syndrome was contagious.  (Ok, perhaps I exaggerate, but they weren’t anxious to see me.) 

So the geneticist sent out an Email on Tuesday to some of his friends.  By Friday he had a name for me, (which means the genetecist is a KEEPER!) of a doctor IN network, and I met her today. 

She is lovely.  Of course, by already having the double mastectomy and the hysterectomy, I have made her job much easier.  Now she gets to push me to the fun stuff.  Next up- colonoscopy, and kidney MRI.  So tomorrow I will call to get the GI appointment, while they work out the authorization for the MRI. 

And all the while I will mourn a bit for the summer that wasn’t meant to be.  This was more, a necessary doctor “catch up period.”  I think by the end of August we will have at least 25 appointments done between us.  And those are just the ones scheduled right now. 

So, just when I start to get whiny and cranky about wanting some alone time to shop, or some fun time to swim, I remember.  Were it not for the work of the angel on my shoulder, that pushed my “prohylactic blilateral mastectomy” in March, I would have likely been spending this summer prepping for cancer treatment. 

So, we still get our trip to Disney, and there is always NEXT summer… 

I spent the last hour preparing for Meghan’s oncologist visit on Friday.  We haven’t seen this doctor for months.  There have been a few things going on.  So, I faxed her 32 pages of what we have been up to.  She wanted to review it before the appointment. 

I posted the cartoon because I had her binder out while I was preparing the fax.  I laugh every time I read it because even after all these years it is still true.  Even with our diagnosis of the PTEN mutation, and Cowden’s Syndrome, even with the precancerous thyroid nodules in Meghan, and her early puberty, she still has pain.  Every day.  And not one of these doctors that we take her to can tell us why. 

I thank GOD every day for her stamina, and her spirit and her spunk.  She is my love, my reality check, my perspective, my reason for being.  I feel displaced right now, from my church, my comfort zone – but not from God.  Even in the midst of all the chaos and uncertainty, I have a husband and a daughter that are beyond compare.  God has us in the palm of His hand.  We are blessed.  And it WILL be OK!

Family Photo!

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Family Photo

This year I am obsessed… well with quite a few things, but one of them is not (directly) medical.

This year I am focused on a high quality, everyone looks their best, everyone is smiling, family photo.

We are a family of three.  Immediate family that is.  (Not including our furry friends Allie, and Lucky.)

Our extended family includes his parents, two sisters, a brother-in-law, and three nephews.  On my side, there are my grandparents, (Mom’s parents, my step-dad’s Mom, and my father’s mom) as well as my mom and dad, my father, my two sisters, a brother-in-law and a half-brother, and two nephews. That list doesn’t begin to address aunts, uncles and cousins galore on both sides.  Yes, they are all family, but reality will never put them all in one place at the same time, and there are probably some blessings to that.  While I love them all dearly, I often say you shouldn’t mix drinks, or extended family!

We have been fortunate enough that we have been able to travel to Walt Disney World in Florida for the past 4 summers.  We will be making it a 5th this year.  We save and budget all of our “fun” money for a Disney vacation because for their extremely high pricing, we get “allergy safe” meals wherever we eat, and unlimited access for Meghan’s push chair, which she often needs when we travel more than about a half mile. It is the best week of the year for all of us.

It is usually the week of Meghan’s birthday.  It is doctor free, no needles, just be “normal” week. We take LOTS of pictures.  Usually it is of Meghan alone, or of one of us with Meghan.  They are great photos and I treasure them.  The few photos we have gotten of all of us in Disney usually have us in sweats, and sneakers – SWEATING. This year we are going to go to the photo studio, and I don’t care how much it costs.  Meghan and I have dresses picked out, and matching sandals too.  (We just need to pick out something for Daddy who after deciding “stress eating” isn’t the way to go, is down over 20 pounds!)

There are so many reasons why I am focused on this photo. It is FUN to focus on something FUN.

I have been smacked in the face with the reality of the frailty of life.  In March I was given a “second chance” as I was told the breast cancer that was “sneaking up on me,” unbeknownst to any doctor – was gone.  Gone after a “prophylactic bilateral mastectomy.” Gone before it had a chance to wreak havoc on my life.  Gone.  But I will not forget the words of my surgeon, “If you had waited until July to do the surgery you would have likely been in a fight for your life.” Instead, I will go to Disney World.

Not lost on me is the reality that 15 years ago next month my Mother finished up treatment for bilateral breast cancer.  She is strong, a survivor, still here, enriching our lives.

Not lost on me is the cancer scare AGAIN in May, as they worried about a malignancy in my uterus, before performing a hysterectomy.

I am vividly aware every moment that the thyroid specialist who monitors Meghan’s “precancerous” thyroid nodules, took back his invitation to come back in a year, and said, “we better see you in 6 months.  One nodule is starting to dominate.”

I am painfully aware every moment that after one of the strongest, and longest battles I have ever witnessed, we lost GGPa in June to cancer.

My stomach, and my heart hurt for the victims of the senseless attack in Colorado this week.  Families out to see a movie – life ended so tragically.

I love to look at pictures.  In an age when people have stopped printing them, I have shelves FULL of albums.  I love reliving memories, and smiling at al the good times. The albums remind me, that no matter how tough things seem, there ARE LOTS of good times.

Cowden’s Syndrome, PTEN mutation, cancer, NOTHING can take away the memories or the good times.  So since 2012 has been quite the year, we will take a “fancy” family photo.  One that will hang somewhere in our house and remind us that we can endure the tough times.  One that will remind us to hug each other tightly, and to kiss each other when we leave, and to never stay angry over nonsense.

One that will remind us that we are defined by our spirits, and not by the sum of our parts.

We are family, and a pretty special one at that.

Family Photo!