Forever…

When I married my husband I committed to forever.  It was a good call.

When we decided to have a child, we understood she would be our baby forever.  No regrets.

forever

But some time in the fall of 2011 a doctor diagnosed both of us with a rare genetic disorder.  This forever, well, this one we did NOT sign up for.

At first there was no time to process the concept of forever as it connected to Cowden’s Syndrome.  There was too much to do.

Neither of us had an “easy” medical history, so putting a name on it had its pros and cons.  But, we were handed lists of appointments to make and things that suddenly needed immediate attention.  We were quickly schooled on tumor growth and cancer risks.  We were told to remain vigilant, and that we would be “fine”.

Stay Alert

There was no time to process as 2012 had a traumatic thyroid biopsy in January and an embolization for her Arteriovenous Malformation (AVM) in her knee in February.  Then, there was my double mastectomy and my “surprise” cancer diagnosis in March, followed too closely by my hysterectomy in May.  And soon after that hysterectomy, Meghan had breast, pelvic and kidney and bladder sonograms.  There was also another MRI of the knee, and two thyroid ultrasounds that brought in 2013 with a surgical thyroid biopsy.

2012 was salvaged largely by a third grade teacher who I swear was an angel placed in our path.  Because there was real life too.  There was work, and school, and activities, and appointments that were quickly starting to overwhelm.

There was probably close to 2 years after the initial diagnosis before I even looked up.  And, when I did I had a whole host of emotions.

Forever had taken quite a toll on my girl.  Tough as nails.  Driven.  Strong.  Focused.  Always.  But, apprehensive, concerned and full of worry she was way too young to have to shoulder.

Forever.  I did my best to keep as much “normal” as I could.  Early therapists cautioned not to let the disease “define” us.  I kept the schedule delicately balanced between the necessary medical screenings and the “fun” activities.  She needed to be “like everyone else”.  So there was swim, later theater, some voice lessons, all interspersed with surgeries too many to recount again.  Some traumatizing, some annoying, some isolating, and some worrisome.  All time-consuming.  Some required physical rehabilitation, and others emotional.

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Forever.  The highway became our bonding place.  She could read and do some homework in the car.  We scheduled appointments on holidays as often as we could.  We scheduled appointments after school.  It made for some long days- often traveling 2 hours each way, and waiting forever in the offices- but we did it to preserve school attendance, and to keep her at as many activities as we could.

Forever.  She grew up.  Not just physically, but mentally.  She has broad shoulders, literally from hours of butterfly, and metaphorically from carrying way more than she should at her age.  The knowledge that this is her forever is difficult for all of us.  We make the best of it.  We talk about how grateful we are to know what to look for.  But, that gratitude, while sincere, can never replace the innocence of youth.  Innocence lost.  Forever.

Forever.  The wait time at most appointments is close to forever.  No one typically knows what to say to us.  They look at what they need to.  They offer some empathy, sometimes.  Then, sometimes out loud, and sometimes in their heads, they show gratitude that they are not fully responsible for us.  We wait hours and hours so often.  We have learned patience.  We have learned to quietly accept that if they “google” us before, it means they actually care.  We are rare.  We are 1 in 200,000.  This diagnosis is forever.

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This summer we have already gone to our 16th appointment between us.  There are 4 more just next week.

Yet, this summer she performed with a wonderful, talented, warm and welcoming group of young people at Staten Island Children’s Theater Inc. in a production of “Legally Blonde Jr.”  They like her.  Some of them know what she does with the rest of her life, and others don’t, and it’s all okay there.  They give me hope that some people, teenage people and adults as well,  are just good people.

She has been at swim practice most mornings between 6:15 and 8:15.  She has spent this week in small group lessons for swim from 8:30-3.

She has accomplished a good deal of her summer work for school.  She had peppered in the appointments in the crevices hidden in the schedule.

Forever.  The reality is not lost.  But, I am so proud.  So proud of how hard she works to stay in this world, while living in the world of chronic pain and rare disease.  It is hard work.  She does it pretty gracefully most days.

Forever.  Perhaps I could use a lesson or two from her.

Somewhere in the midst of this medical whirlwind we live.  Somewhere in the midst of working full-time, and managing surgeries and appointments, and life as it happens to all of us, I have lost track of myself.

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Forever.  I have one speed.  I operate in constant motion, or I am asleep.  There is rarely any middle.  The yellow legal pad is to the right of my computer, capturing every thought.  The iPhone calendar alerts me to the plans of the day.  My house, although not as clean as I’d like it, is in constantly good order.  It is a control issue.  I will own it.  There is so much flashing by in the blink of an eye, I can be sure to get the dog fur off the floor once a day, and know that it actually got done.

Forever.  I’ve lost touch with most of my friends.  Life is busy, theirs and ours.  There are only so many times you can tell the same story to people.  Our story could be recorded.  It just repeats itself.  Doctor, testing, surgery, follow-up, rehabilitation, next body part, routine appointment, maintenance, worry about a potential problem, 6 months to watch it…  I used to have other things to talk about.  Now I would be one of those people I used to laugh at on night-time TV.  I am so out of touch with the world.  My experiences are significant, but without variety.  They are heavy and too much for most people to hear.  There are no answers.

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Forever.  The summer will pass.  We will force in a vacation and we will hold those days to be without doctors, and without summer assignments.  Then, we will do our best to put our feet in sand once.  Just to listen to the water.  We will try to get a few people to swim in our pool, so the activities of opening and closing it are not totally futile.

Forever.  Life is busy.  Too busy.  And that’s not just a Cowden’s Syndrome thing.  I heard of three deaths this week.  All three tragic.  One at age 19, one at 31, and another a bit older.  Tragedy.  They had plans.  They did not think their forever was going to end this week.

Forever.  My conscious mind doesn’t need but a split second to list dozens of real and significant blessings.  There are countless things in my life that bring me to my knees in gratitude.  But, the inner conflict is strong.  With the knowledge of the wonder and beauty in my life, I should be able to take this diagnosis, this “Forever” that is Cowden’s Syndrome, and put it in its place.

Forever.  The struggle is real.

Forever.  Stopping to find the moment, and to embrace the joy right now is not as easy as it sounds.  I can talk the talk better than anyone.  The raw truth is that I can not always walk the walk.

Our Cowden’s sisters and brothers span the globe.  Estimates are about 1,800 of us are in the United States.  I do not know the world numbers.  I know some of the people though.  One in Australia just underwent 2 MORE brain surgeries a few weeks ago.  Another, a teen who is with her Mom in Cleveland right now is waiting for news that is surely churning mom’s heart.

Forever.  It’s such an arbitrary concept sometimes.  I became a wife with the intent of forever in my heart.  I became a mother with that same intention.  But Cowden’s Syndrome threw forever at us.  It’s got the same dictionary definition, but not the same feel.

Someone asked me recently why I can’t just take time off, or block my appointments so we have “breaks”.  The truth is, I try.  Doctors want what they want in terms of follow-up, and being vigilant means I need to comply.  Most visits run us a minimum of 4 hours round trip.  Many can not be “stacked”.  I have a full-time job.  I have a high school honor student.  We need to be at work and school.  I suspect those who ask are just trying to help.  But, it makes me feel like maybe if I just tried harder…

waiting doctor

Forever.

It took me 7 weeks to write this post.  My attention span is not what it used to be.  I have a whole lot of reasons to keep making this work.  Forever.  I am blessed.  I am grateful.  I am tired.  I am human.

This blog was started in hopes that people stumbling upon it would read the story of a real family, fighting the same thing they are.  With that comes real, raw, and honest emotion.

Forever is beautiful when you connect it to things you signed up for.

Forever is not so easy when it connects to a rare disease that wants to grow things throughout your body.

Forever.  It is promised to none of us, that forever will last longer than today.  It is our decision what we do with the gift of the time we have.

I am a work in progress.  I am a wife.  I am a mother.  I am a survivor.  I am worth the hard work.

Today I will start by opening all the blinds.  Time to look at the sunshine.  Time to look at the blue sky and the flowers.  Time to breathe. In and out.

One step at a time.

We  will remain

#beatingcowdens

Forever.

 

 

 

 

Rare Disease Day- Video Recap

World Rare Disease Day is February 28th.  People all over the world will work to raise funds and awareness for over 7,000 Rare Diseases worldwide.  In our house things are buzzing, as we prepare to teach the world a bit more about Cowden’s Syndrome.rdd-logo-2

There will be so much time to write.  Soon.  Right now we are preparing for Rare Disease Day 2017 and “Jeans for Rare Genes 3.”  All the preparing brought me back to her video from last year.  And then I looked at the year before, and the one before that.  And I was struck by how much she has grown, not only in her technological ability, but also as an advocate, and a voice, and a human.

There will be no video this year.  It was time for a change of pace.  But, I thought it appropriate to post these here, now.  She keeps me grounded.  She keeps me going.

And then there was this…

http://blog.silive.com/gracelyns_chronicles/2017/02/inspirational_staten_islander.html

Together we remain

#beatingcowdens

Enjoy!

The Best You Can…

Friday we met a good doctor.  A new endocrinologist.  He is young.  He is friendly.  He is smart.  He is ready to be a doctor to Meghan.  I am grateful.

Friday Mom got her second cataract done and checked before the storm.  So necessary for more than visual acuity.  It just needed to be done.  I am thankful.

I was about to say today was one of those days where you have to focus on your perspective, and it will define your outcome.  But, really that’s every day, isn’t it?

We woke up under about 30 inches of snow here in NYC.  Now the thing about living in NYC is that you have to learn, as the Marines say, to “Improvise, Adapt, and Overcome.”  Because nothing really stops.  At least not for long.

improvise adapt overcome

Yesterday there were travel bans.  Yesterday we were to stay off the roads.  Today we are told that the City’s 1 million school children will report to school tomorrow, and with them, their thousands of teachers and support staff will report as well.

In many boroughs this is not such a big deal.  Public transportation is at the ready.  Moving around is easy.

Not the case here on Staten Island.  Almost everyone travels by car.

Yesterday Felix tried to keep on top of the snow.  It was fruitless.

Last night an ambulance got stuck in front of my house.  My husband and a neighbor dug them back to a main road.  We said a prayer for the person they were headed to, and continued on our night.


This morning, we woke early got the shovels and the snowblower.  He started at one end, and I at the other.  But in the front of the house I was met by my neighbors.  We groaned a bit, and pleasant conversation ensued as we gave each other a hand.

At one point the conversation turned to Meghan’s footwear.  Somehow.  And as I explained that she has 2 different sized feet, and we buy 2 different shoes and toss the opposites, she seemed stunned.  And I said soon after we toss the opposites we sit for a moment in gratitude for 2 working feet, and a financial situation that allows us to pay our credit card bills.  She smiled.  She gets it.  She’s had life struggles of her own.

We got the cars free.  We set ourselves up to hope for the best for tomorrow.

Then Felix headed with Ken to shovel out my grandparents.

Grandma, when memory came easier to her, used to sing, ” Count your many blessings, count them one by one…”

Grandma is 95 and Pop is 96.  Life is more challenging for them than it ever was before.  Yet there are so many blessings.  They have neighbors that help clear pathways when we can’t get to them.  They have a tenant who is a friend, who looks in on them and keeps us posted.  They are really special, and we are grateful for the kindness of those they interface with daily.

When he got home, my husband stole a quick meal and headed out to make an igloo and a snowman with Meghan, after a romp in the snow with the dogs.  He is a good husband, and a good Dad.  A really good man.
   
Some time this afternoon my phone rang.  It was an internet friend looking for some reassurance.  I think I was able to give it.  Keep your heart and mind focused.  Stay physically, mentally, and spiritually healthy.  Do the best you can with what you have, where you are.  Always.

Tomorrow Meghan will see the knee surgeon.  Time to follow-up on a less than stellar MRI/MRA experience the week before last.  Time to check on the status of the AVM.  Holding my breath that it’s behaving.  Tomorrow I will hope all the main roads from here to NYC are plowed well, and I will gratefully pay to park in an overpriced lot.  Perspective.

We are actively engaged in “Jeans for Rare Genes 2,”  working on everything from ticket sales to journal ads to raffles.  My Meghan is ready to channel this week’s pain into a focused goal.  Meghan wants the PTEN foundation to have the money they need to create a patient database.  Vision.

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Every day we are given a choice.  Many choices.  Life is not all peaches and cream.  Not for any of us.  Some days I struggle.  Most days I know which side of the bus the sit on.

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Here’s to hoping for an easy safe parking spot at work tomorrow, a mind eased from the worry of loved ones, and a smooth trip to NYC.

 

The Speed of Life

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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.

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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.

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Kid of Achievement!

Today I turned 41.  And while I am incredibly grateful for the gift of life, and for “More Birthdays,” as the American Cancer Society once put it, my birthday holds all sorts of emotional challenges for me.

I have a memory for dates.  And seasons.  And events.  And people.  Especially people I love a lot.  And 23 years ago on this November day, my beautiful 6 year old cousin Meghan was invited to dance with the angels.  Childhood Leukemia weakened her body so, that she was not to stay here physically.  Yet on my 18th birthday I got the gift of the most spectacular guardian angel – and her name and her spirit live on in my girl.  Even with all the good, the day messes with me.  I tried explaining it to my Meghan last night, and the best I could give her was – 23 years become 23 days sometimes.  The pain just gets a whole lot more fresh.

And Grandma, Dad’s Mom got her wings just a few weeks ago.  After 88 years and a life well-lived, it was still tough to see her go.  Not even a year since Dad…

And last November 12th, on my 40th, my Dad was in the middle of what was to be the fight of his life.  We spent it together.  An unsavory appointment, and some legal crap I wish never had to be.

And this year a dear, compassionate, kind-hearted, fun-loving relative sits, so close to the end of his life here on earth.  My heart just gets full.

So, it came as a pleasant surprise last week when my cell phone rang and it was Gina from the Staten Island Children’s Museum, telling me that Meghan had been selected as one of this year’s “Kid of Achievement” honorees, for her advocacy work in the community.  The luncheon was to be held on November 12th.

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“Of course we’ll be there.”  And I couldn’t wait to share the news with her.

We kept kind of quiet while she prepared her speech, and I sent her to school this morning with her backpack and her speech and a pretty dress.  Quite a swap from her typical sweats.

We arrived at the Hilton Garden at 11:15, sized up the room that we will be in for our fundraiser on February 15, 2015, and checked out the raffles.  We met the other honoree, a lovely young woman being honored for her work with Project Homefront.  The tables filled in and the event began.

When Meghan was introduced for this award, her advocacy was the focus.  Her nominee(s) knew her history.  They knew of her work, and her goals.

She delivered this speech with incredible poise.

When my mom got the call that I received this award, I was thrilled.  All of my advocacy began with me wanting to make a difference.  I am so honored, and humbled to realize that I am.

I was diagnosed in 2011 with a rare genetic disorder called Cowden’s Syndrome.  It affects 1 in 200,000 people and it starts from a broken PTEN gene.  The PTEN gene is the tumor suppressor.  The PTEN gene prevents benign and cancerous tumors, but since mine is broken I have a higher chance of getting these things. 

My Mom was diagnosed weeks after me.  A few months after that she was diagnosed with early stage breast cancer.  She had some pink ribbons around the house, and she got a pink ribbon Pandora necklace.

I knew about the gold ribbon for childhood cancer, and the puzzle piece for autism.  I knew there were many others, and that all these disorders had a symbol, and with a symbol comes a voice.  I had many medical issues, and went to the doctor all the time.  I knew there had to be symbol for people/kids like me; kids who’ve had eleven surgeries in eleven years, kids who’ve had countless tests and are treated like human pincushions.  Imagine, all this happens to prevent cancer.  There is no simple solution, only a constant set of routine poking, prodding, tests, surgeries and more!

We kept looking for a symbol.  We found one when we came across the Global Genes Project.  They stand for all rare and genetic disorders, their symbol is the denim ribbon, and their slogan is “Hope, it’s in our genes.”  But, there was not a necklace, no jewelry.  There was nothing to wear to help me show people, and tell the world about genetic disorders.

I asked my parents if we could get something made, and we did.  My parents found a compassionate and caring jeweler who created the mold for the necklace I am wearing today.  We reached out to the Global Genes Project again and again, in hopes they would sell the necklace too. Recently, they put a similar necklace on their market, and I can’t wait for it to become as popular as some of the popular pieces I have come to know.

Rare and genetic diseases are out there.  Most are very rare, but there are over 7,000 of them.  More work needs to be done individually and collectively, to get them the funding they need

In 2013, just about 18 months after our diagnoses, we celebrated “Rare Disease Day” which is February 29th – the rarest day- or February 28th on non-leap years, by handing out denim ribbons at our schools.  We had assemblies, and I got to talk to my peers about what it was like to live with a rare disease every day.

I have had 4 knee surgeries for a vascular malformation in my right knee.  I have a good deal of pain in my body, there, and pretty much all over.  Some days I feel great, and other days I can’t get too far.  One day in the spring of 2013, my mom was pushing me in a wheelchair to an appointment.  I was annoyed by the number of people staring at me and talking about me.  I heard things like, “lazy,” and “she’s not sick.”  I decided I could be angry, or I could do something.  While I definitely spent some time through the years being angry at some of the things – like running- that Cowden’s had taken from me, I decided instead I was going to DO something.

That night my Dad helped me design a business card that very briefly explains Cowden’s Syndrome.  I have handed out hundreds to those who stare, and to those who just care.  I like to spread the word, one card at a time.

This card was created out of her need to "teach" others about Cowden's Syndrome.
This card was created out of her need to “teach” others about Cowden’s Syndrome.

This year, right before Rare Disease Day in February, I had my thyroid removed.  Thyroid cancer is very common in young people with Cowden’s Syndrome.  My thyroid had been watched since my diagnosis, and it went from having 4 nodules in 2011 to 16 nodules and 3 precancerous tumors in 2014.  I was fortunate, but the surgery was rotten, and it has been hard getting the medicine quite right.  I have been called a “Previvor,” which is someone who has an organ removed before the genetic cancer that is looming has a chance to strike.

This kid is clearly a "FORCE" to be reckoned with!
This kid is clearly a “FORCE” to be reckoned with!

This year, for Rare Disease Day, I decided to raise some money.  We sold T-Shirts at my school and we had a fundraiser.  The money all went to the Global Genes Project, and it felt really good.

At my old school, in February, I also met the Borough President.  He took such an interest in my story, he made me feel awesome.  I have visited Borough Hall a few times, and love talking with him.  He has encouraged me to keep dreaming bigger and I will.

Two weeks ago my Mom and I signed a contract with the Hilton for a fund raising breakfast on February 15, 2015.  We will be raising money for the Global Genes Project, and the PTEN foundation.  The PTEN foundation is a new organization, working just for PTEN disorders like Cowden’s Syndrome.   We hope to have raffles, and T shirts for sale.  We plan to have music and fin.

We set up ticket sales through eventbrite, and we called it “Beating Cowden’s First Annual Jeans for Rare Jeans Fundraiser.”  Sales are open to anyone who wants to come support two great causes.

I am on a mission to spread awareness and raise funds for diseases people know too little about.  I will not be satisfied until each of them has the recognition they need, and the cure they deserve.

Thank you again for this award, and for encouraging me to continue my mission.

Here is a video of her speech.

And when she was met with a standing ovation there were tears in my eyes.  Tears of pride.

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One after another people approached her, and complimented her.

Not a single one would have known the strength it took for her to walk in the room today.  The pain was unbearable.  But she did it.  With grace and a smile.

And in addition to the compliments, there were offers to help.  Real, genuine offers.

We will Email some of our new friends tonight.  And with their help, in February we will blow this fund raiser out of the water.

Kid of Achievement indeed.

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World, you haven’t seen anything yet!

Here’s the link to our local paper….

http://www.silive.com/westshore/index.ssf/2014/11/staten_island_childrens_museum.html#incart_river

 

And while you’re at it – book your tickets for February 15th!

https://www.eventbrite.com/e/beating-cowdens-first-annual-jeans-for-rare-genes-fundraiser-tickets-14130024283

 

Soft Lock Downs and other things that shouldn’t be…

I spent the weekend with my college roommate.   She was the one I lived with the longest.  She was the one who introduced herself to me the first day.  She held me 2 months later as I was wracked in sobs at the loss of my cousin Meghan on my 18th birthday.  She learned how to drive in my Toyota.  We had fun, shared friends, and life, and got to know each other in deep ways saved for long term friends – or ones you’ve lived with.  We gathered enough good dirt on each other to be sure we’d be friends forever.

friends-are-forever

The last time I saw her was in December.  She and her husband showed up at the wake for my Dad.

The time before that was when I made it out to the wake for her Mom.

Somehow we find each other…

And this weekend we hugged first on Friday, in that room in New Jersey, miles away from each of our homes.  We cried, and hugged and pulled it together.  As the scene was replaying itself again.  But this time it was far worse.

College Graduation - 1995
College Graduation – 1995

It’s not right that we don’t see each other.  And it’s no one’s “fault.”  And I have a few dear friends I am in the same situation with – whose kids I’d barely recognize if it weren’t for Facebook and Instagram.

We stood together for a while, just the two of us.  Interrupted only by people trickling by.  We spoke about his fight.  His strength.  His battle.  I told her how much I respected all he did to fight.  I told her I was so privileged to have shared a few email exchanges after he took to this blog.

But, from where we stood, in the out of the way corner that defined her comfort zone, we might have even forgotten why we were there.

Although the reality became apparent through the greetings, and the hugs, and the “I’m so sorry…” sincerely sent in her direction, over and over.

Her little brother had died.  Her “little” brother was little in age, not in height or spirit.  He had a presence about him 20 years ago when I greeted him in our dorm room.  When he spent time with us.  His charm, and sincerity, and personality resonated even then.

Her “little” brother was 36.  Diagnosed with stage 4 pancreatic cancer months ago, he fought with every fiber of his soul, through every treatment and surgery presented.  He fought for his family, for his wife of 10 years, and for his two handsome young sons.  He fought out of zest and a love of life.  He fought for his siblings and his Dad.

780166Pancreatic_Cancer_Awareness

I remember when she and I spoke this summer.  I remember the conversation because she asked me a question I didn’t want to answer, but one I had needed to ask myself months earlier.  She asked how long it had been for my Dad, from the time he was diagnosed until the end.  And as I choked over 10 weeks, I instinctively tried to fill that statement with stupid things… “he’s young, there are things he can do…”  But, she had heard a number.  Just as I had when I had asked the question months earlier.

And I kept an eye on the calendar as I checked in on my friend.  And every day I thought of her.  I prayed often for her brother, and the family.

505f8c5395c183d95900a6d4b1a2c5f0

Sunday came the text that he wouldn’t make the week.

Tuesday came the one that said he was no longer suffering.

Friday rolled into today, and we sat.  Side by side in a standing room only funeral parlor.  We hung onto each other’s hands and friends and family alike shared stories, and memories of a guy who seemed to have been larger than life.  And my favorite story of the day came when they said he went back to college after he had his boys.  And he got his Master’s Degree too.  Not for financial gain, but because, “How can I hold my boys to a higher standard than I hold myself to?” Class.  His spirit filled the room.  There was an abundance of support, and love.

And then we were at this backyard party at her brother’s house.  And to the naked eye it could have seemed like any end of summer gathering.  But it wasn’t.  People were eating, and sharing stories, and passing time together.  And two handsome blond boys ran about with their friends.

And then there will be tomorrow.  And this young woman, now a widow, will need to press on for her boys.  And those boys will slowly come to the realization that Daddy is never coming home.  And his sisters to the reality that he won’t be at the next gathering, and his Dad to the realization that his son and his wife have now gone on before him – leaving him with lots to take care of.

36 years old.  Father of 2.  Dead from Pancreatic Cancer.  Illogical.  Incomprehensible.  Insidious, painful, horror show of a disease.  It just doesn’t make sense.

At all.

And there have been so many things that don’t make sense.  Ever.  They pale in comparison to the horror of a son and a brother, and a father dying out of order, yet still they are the things that keep me wondering about all things.

I think it was Wednesday at work.

I had a first grade class.  And the loudspeaker went something like this, “This is a soft lock down drill.  Please take all proper steps.”

And just like that 28 first grade students instinctively went to the back corner of my room.  The stayed low and quiet as I shut the lights and the smart board and locked the door.  They got themselves out of sight of the glass window on my door.  And they sat.  Silently.  And I was stunned.  I think it was the 10th day of school.  They range from 5 to 6 years in age.  And they never moved.  They looked to me for a reassuring face.  I faked it.

Truth is as necessary as I know they are – I HATE those things.  And in this post 9/11 world, littered with countless nonsensical school shootings, and deaths, I get it.  And I take it seriously.  And the reality that one day we COULD be a target of chaos doesn’t escape me.  But that doesn’t mean I have to LIKE it.  I don’t like that we need to scare the crap out of these little ones just in case.  They are growing up in a wild world.

So wild that when Meghan’s Social Studies homework became to be aware of the news every day, (something we actively have tried to hide her from because there is just enough CRAP in her life) one of the first stories to come across was terror threats in Times Square.  She gets things very quickly.  And she is stellar at context clues.  Dad’s in Times Square every day.

These kids are growing up in a tough world.  Grown up worries.  Grown up realities.  Young minds.  It’s so hard to make any sense of it at all.

And so when the ones who are supposed to help -just don’t, well that seems to make things worse.

In the middle of the renovations that swallowed the end of August, Meghan broke her foot.  A stress fracture to one of the superficial top bones.  I am absolutely not getting “Mother of the Year”” for this, because I was in full on “suck it up we have things to do” mode for the first 36 hours after she banged the foot hard into a misplaced shelf in the basement.  That was a Thursday night.  And by Saturday of Labor Day weekend, we found ourselves in Urgent Care with a “suspicion of fracture.”  Of course being a holiday that simply meant ice, rest and elevate till Tuesday when we could get to the podiatrist.

meghan boot 2

And we brought the X-ray, and the report.  And everyone was very pleasant and we were told that the X-ray abnormality didn’t exactly line up with the point of severe pain.  So, clinically it was appropriate to diagnose a stress fracture, put her in a boot, and have her repeat the X-ray in 2 weeks.

So she began middle school days after getting her braces off, with this giant black boot on her leg.  And she plugged along for two weeks, and we got the X-ray repeated as we were told to.  So, when we returned to the office for the recheck we gave them the disk and the report.

There was some grumbling about the  radiology place we went to writing the “worst” reports (but no one told us where to go,) and some discussion in the other room about things on the film that were “probably nothing.”  (Doctors should learn some moms have rabbit ears.)

So he came into the room after having had Meghan take off the boot.  There was a surgical resident in tow.

“How does the foot feel?”

Meghan, “Much better.”

“Great, there’s no evidence of fracture on the x-ray.  You must have healed.  Let’s transition you off the boot.”

meghan boot 1

Please know during this whole exchange he NEVER EXAMINED HER FOOT!

Me, having already read the X-ray report, ” What about the report talking about “bony bridging and bordering sclerosis.?”  Does that mean anything?”

“Well, it’s not causing her pain is it?”

Me,”Well she doesn’t have foot pain, per se, but, there is chronic joint/muscle/bone pain that we work on.  Could things being out of order in the foot trigger some of this?”

Me,”I guess really what I’m asking is, is anything on that X-Ray consistent with Cowden’s Syndrome?”

“Well does Cowden’s Syndrome cause bony overgrowth?”

Me, “You’re the doctor, I am asking you.”

“But you are far more familiar with the syndrome than I am.”

Me, in my own brain, Thanks to Google University, and then out loud, “Are you seeing this? (pointing to the extra bone that juts out of her left (and right) feet) on the X-ray?”

317152-google-library

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=201 ( You may have to cut and paste the link)

(THAT IS A PAGE FROM A WEBSITE, reviewed by a doctor at the cutting edge of PTEN research.  It took me less than 10 seconds to find.  It verifies bone cysts connected to Cowden’s Syndrome, and had anyone asked I would have been able to tell them about the “non-ossifying fibroma” in the left femur that scared the crap out of us when she was 2.)

“I don’t think so, but you should probably have a specialist look at that.  I don’t need to see her again.”

GOOOOOOOOOOD THIIIIING!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

And I turn to see the tiniest tear in the corner of Meghan’s eye…. “Mom, he never even touched my foot.  He has no idea what the problem really is.  What’s the point of wearing the boot?  I have to trust my own body cause they don’t know anything.  I think its healed and the boot is hurting my knee.”

Fair enough.

She’s the closest I have to a doctor, and the thing that has made the most sense all week.

When you have a diagnosis that leaves you prepped for cancers of all types at all ages and in all places, there are things that rock you to your core.

Sometimes living with PTEN Hamartoma Tumor Syndrome is like living under the constant threat of a terrorist attack.  But the terrorist is cancer.

You get to live in fear, or live your life.

You get to try and make sense of things, or run with them anyway.

With the motivation of those – not connected to us by Cowden’s, but connected to us by life – who have fought the good fight, I try to stay focused.  To live life instead of hiding in a corner, or some days under the bed with the lights off…

So many things, so many tragedies will never make sense.

confused

But it’s less about making sense, and more about being sensible.  It’s about instinct.  And love, and compassion.  And cures.  I am a big fan of cures.

Tonight, wherever you are in your life. Whatever is rattling your world, I ask you to stop for a minute.

Say a prayer for those two little boys who will begin to know that Daddy is never coming home.

Say a prayer for a family who lost a 36 year old high quality man too soon.

And please.  In this world that makes no sense.  Do something logical. And kind.  For someone.  Cause we ALL need it.

 

Champions of HOPE

It’s no secret that we have been followers of “The Global Genes Project” since our diagnosis in 2011.  Meghan fell in love immediately with the denim ribbon, and their slogan, “HOPE it’s in our Genes!”  That play on words stuck with her, and the ribbon gave her a good deal of connection at a time when we weren’t sure if we’d ever connect with another soul with “Cowden’s Syndrome.”  The connection with the RARE Community at large carried us through those earliest days.

hope-its-in-our-genes-300x88

The end of 2011 and well, 2012, and… well, you get the idea… held some tumultuous times for our family.

Adjusting to the diagnosis was not easy.  Finding balance within the labels, and the risks, and the screenings, and the surgeries, and the appointments was (and sometimes still is) a struggle.  In the months when the diagnosis was at its newest, Meghan’s thyroid was called into question several times.  We discovered nodules we never knew were there and learned the early risks of thyroid cancer were real, and ever-present.

She soon underwent the most horrendous of what would be 4 thyroid biopsies over the next 2 years.  Scarred physically and emotionally, we began to wonder about this beast we were up against.

In February of 2012 Meghan had her 4th knee surgery for an AVM (arteriovenous malformation) in her right knee.  Now convinced it’s stubborness could be credited to Cowden’s Syndrome, the fight to control it’s growth took on a whole new meaning, and we were referred for consultation to Boston Children’s Hospital.

While we balanced the screenings for Meghan, I was sent to my own set of initial screenings.  Being 38 and newly diagnosed, I was in the battle full on, and I had had no idea.  All the imminent cancer risks associated with Cowden’s Syndrome – except for the thyroid which often comes earlier – seem to peak right around 40.  No stranger to doctors, I was trying to figure out how the diagnosis helped explain the roadmap that was my own medical history.

In March of 2012, I underwent what was to be a “prophylactic bilateral mastectomy,” to battle the 85% breast cancer risk I had with the PTEN mutation that caused Cowden’s Syndrome, and my own medical history which had already seen 7 increasingly suspicious breast biopsies.  Seven days later, while having my drains removed, my husband and daughter sat in the room as the doctor announce it was a “good thing we moved when we did.”  My left breast, the one that had never seen a scalpel, had 1 centimeter of DCIS, close to the nipple and clear of the chest wall.  I had breast cancer.  They found it by accident.  My aggressive, intelligent surgeon, who I met because of my diagnosis, and really BECAUSE of my daughter had saved my life.  I needed no treatment.

faith_hope_breast_cancer_puzzle

I left the room that day holding the two people I love more than anything.  Unaware of the plans clearly in place for us, I was so filled with gratitude, and so in awe of the reality that if I had never had Meghan, I would have likely never known.  And the surgeon’s words, “If we had waited till July like you had wanted, you would have been in a fight for your life,” still ring in my ears.  Sometimes you have to stop the “what ifs?” and just say “thank you.”

Ten weeks later I was back in the hospital for a complete hysterectomy.  A suspicious uterine polyp, enlarged ovaries, and Cowden’s Syndrome combined again for too great of a risk, and the recommendation was for surgery and quickly.

happy hysterecomy

The shock on my body, the trauma to my family at this point was intense.

I had begun to scour the internet looking for places to go.  I found http://www.PTENworld.com and its dynamic young moderator, a Cowden’s patient for many years.  I found Facebook, and a beautiful support network there.  I found a yahoo group, and a mom there who has consistently gone above and beyond for me, simply out of goodness. Finally, there were real people I could talk to.

One day that Spring I received a Pandora necklace with a pink ribbons on it.  After years of advocating for my mother, a bilateral breast cancer survivor, holding the pink ribbons that belonged to me felt strange.  Yet, so did the new boobs, smaller, but perkier than the old ones, and all the clothes I was learning no longer would fit quite right.  So, I took comfort in that necklace and I wore it a lot.

pink ribbon pandora

And one day my very obsevant girl, who was 8 at the time, a few months shy of 9, asked me “What stands for me?  The gold ribbon is for childhood cancer, the pink ribbon is for breast cancer, the puzzle piece is for autism.  What about me?  What about people like me who are dealing with this (Rare disease) every day?  I NEED something mom.  Not to have a thing, but for my identity.”

Stunned, as usual.  I realized I had begun to heal myself, to seek comfort for myself, but I was leaving her behind.

So I happened to be retelling the story at lunch.  And my teacher friend, whose husband is a jeweler, and who has a son with autism, really “got it” on so many levels.  She told me she’d talk to her husband and see what was around.  So I gave her a denim ribbon sticker from the Global Genes Project, and they were on a hunt.  Which turned up nothing.  There seemed to be no piece of jewelry worldwide to symbolize those with Rare Genetic Disorders.  And, with there being over 7,000 RARE dieseases, accounting for almost 10% of the population, to us this was silly.

So my friend’s husband offered to make one.  For Meghan.  Because if she wanted a piece for her “identity” she should have one.  So he did.  It took months.  And it was perfect.  Absolutely perfect.  And he was so generous in the donation of his time, all to light up my girl’s world.

 

August 2012
August 2012

 

Typical Meghan, no less that 5 minutes after she put it on, she started with, “Wouldn’t it be great Mom, if these were available all over the world, and then we could see them when we went places, and we would know the people who have, or love people with RARE diseases?’  And the conversation continued to include asking me to reach out to The Global Genes Project to try and make it a reality.

Well two years have gone by.  Felix and I each wear one too.  Only 3 ever made.  Until recently.

There have been lots of EMails exchanged.  Lots of conversations.  Lots of people.  Ultimately they did decide to have the necklace made, and while the decision thrilled me, I would be lying if I said that I wasn’t disappointed that they couldn’t use our friend, the jeweler.  But, business decisions are what they are, and this one was not in my control.  And, despite that disappointment, Meghan’s dream, her vision, is becoming reality.  We received 2 samples this week, and a “THANK YOU” from the team at Global Genes!  The necklaces will be on sale through http://www.globalgenes.org in the fall!

denim ribbon necklace 1

denim ribbon necklace 2

Two years have gone by.

I have developed deeper, closer “long distance” relationships with some “kindred spirits” in the Cowden’s Community – globally!

My girl has some of her own friends with Cowden’s now, spread across the world.  She will be 11 soon, and is quite the young lady.  She understands life on levels deeper than she should.  Most impressively she understands that despite our struggles, there are many in the world who struggle in heart, mind, body, and soul.  She knows that “Everyone has SOMETHING!”

This past year she organized an assembly at our school.  She worked with Student Council to arrange an evening fund raiser.  She partnered with a friend in her own class who has a RARE Disease.  We sold T-Shirts.  We received intense support from faculty, and parents and students.  Every child got a denim ribbon to wear for RARE Disease Day.  We sent thousands of dollars to The Global Genes Project.

She has already begun to plan for next year, and wants a much bigger fund raiser.  “At a place Mom.”  We can really get the word out and raise money.  For The Global Genes Project http://globalgenes.org/, and for the newly founded PTEN Hamartoma Tumor Syndrome Foundation http://www.ptenfoundation.org/, another organization close to our hearts.

She has a mind that never stops.  She has the heart and voice of an advocate.  And this year, she was nominated for the TEEN Advocacy Award at The Global Genes Project.  (If you scroll down, the teens are close to the bottom.)

http://globalgenes.org/2014-rare-champions-of-hope-nominees/

Meghan 2014 Nominee
Meghan 2014 Nominee

Champions of HOPE indeed.  So proud of her.  So proud to see her name with all the others who have decided to “Do Something.”

 

“HOPE it’s in our Genes!”

We are BEATINGCOWDENS!