“BE the Change You Wish to See in the World” – Ghandi

be the change

With another fall season upon us, life is in full blown crazy mode.  And, to be honest, we wouldn’t have it any other way.

Yesterday, my 12 year old FINALLY throughly enjoyed a Halloween.  It was such a thrill to watch.  FINALLY, she was able to trick or treat, EAT a few treats, AND keep up with some serious walking with friends.

Of course, she slept until almost 1 pm, even with the time change, and woke up unable to move her AVM knee.  These are the repurcussions we expect.  She is not “normal,”  but when she can pretend for a while when it really counts… well that is a great success.  And even as she lay still most of the day, she smiled.  She sang.  Joy.

Fall is full of things, and so far she’s managing nicely.  With a marking period to end Friday, Pupil Path tells me grades are at an all time high.  Practice 4 times a week has her swim times at an all time low.  And, drama twice a week is leaving hopeful anticipation as “The Wizard of Oz” is soon to be cast.

She is working with me to plan our second fund raiser in February.  We chose a date close to World Rare Disease Day, with the continued desire, and intention to bring awareness to our rare disease, and over 7,000 rare diseases worldwide that affect 10% of the world’s population.  We are acutely aware that to be heard, we need to join collective voices.  Individually we matter little to most of the healthcare system, overwhelmed, uneqipped to diagnose and treat us.  Together is the only way we have a chance.

Last year we raised over $12,000 and donated it to the PTEN Foundation (www.PTENfoundation.org) and the Global Genes Project (www.GlobalGenes.org).  This year we hope to exceed $20,000 in donations.

We have brought in Bob Jackson, a performer from Walt Disney World.  He will be flying up to entertain our guests.  Our whole family LOVES Bob, but Meghan especially will not hear of celebrating a birthday until Bob sings to her.  We’ve spent her last 8 birthdays at Disney.

Here is a youtube video that is a great indicator of the FUN time Bob brings!

We have lined up sound with Partners in Sound, and we have Balloon Charlie returning to also help entertain the children.

We have established a children’s menu in hopes that families can enjoy the afternoon out together.

There will be raffles and lots of laughing.

There will be comfortable JEANS and good friends.

We are setting up a facebook group called Jeans for Rare Genes 2016 Staten Island, and we encourage you to join.

We have tickets to the event available through Jeans For Rare Genes 2 – Tickets and Donations link

Meghan is living life as a 12 year old who just happens to have had 15 surgeries.  She is a 12 year old who just happens to have a Rare Disease.  She is a 12 year old who realizes that as challenging as life is, so many others suffer worse.  She is my hero.  She is MY role model.

Together we will make Jeans for Rare Genes a thrilling success.  Hope to see you there!

Time with
Time with “BOB” our favorite entertainer…

Losing Count…

In school I count children.  Religiously.  Especially in September.  I count them in, and out.

I count pencils, to pacify my OCD.  12 to a table.

I count days until appointments, special occasions, and vacations.  I love numbers.

I have a tendency to remember addresses, phone numbers, anniversaries and dates.

So it’s a really big deal in my mind when I realize I am losing count of Meghan’s surgical procedures.

counting

I keep a list in my bag, that I update often.  I have a 16 gig flash drive with a history spanning 12 years in that same ziploc bag in my purse.  But, this year.  Well, this year has been a little more wild than usual.

And every time I say it, I find the old saying, “You ain’t seen nothing yet..” coming true.  But, every year I sit at an IEP meeting talking about discontinuing some services, and we always say, “When she goes a year with no surgery…”

Good thing I’m not holding my breath.

See I wrote, and I think I blogged, TWICE in the last week, that the hand surgery was Meghan’s 13th surgery.  Except it wasn’t.  It was the 14th.

counting 3

And maybe, when I lose count, it’s time to stop counting.  Because they are all starting to blur together.

2004- Epigastric hernia surgery

2007 –  Gall Bladder Removed

2008 Tonsils and adenoids removed

2008 Back mass lipoma

2009 Oral “fibrous polyp”

2009 Embolization (internal) AVM right knee

2010 Embolization (internal)  AVM right knee

2011 Direct Stick Embolization AVM right knee

2012 Direct Stick Embolization AVM right knee

2013 excision of mass from right palm

2014 complete thyroidectomy

Nov. 2014 emergency (direct stick) embolization AVM right knee

May 2015 Arthroscopic Surgery – Right knee

August 2015 Excision of vascular lesion from left palm

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But, just as I think I should stop counting.  Just as I think that this is “normal,” or that these procedures are somehow “minor,” I realize the ridiculous nature of that train of thought.

THIS IS NOT NORMAL.  THIS IS COWDEN’S SYNDROME.  And, BEATINGCOWDENS is what we do, but it is far from NORMAL!

This week, Meghan had a fever blister break out before her surgery.  Maybe nerves, maybe coincidence, maybe a medication screw up.  Whatever.  It reminded me again, that her body is taxed.  It is tired.  I have been hunting through past blood work, another plan in place to try to deal with chronically low IgG levels.

She spent the 48 hours after the “minor” hand surgery with high fever and frightening headaches.

We had to postpone the follow-up to the “real” 13th surgery Thursday morning because she could not get into the car.

No surgery is minor.  And we run the risk of confusing things we are used to with things that are not significant.  And that is a dangerous road.

It is so important to keep validated, as an adolescent or as an adult.  When we trivialize procedures, intentionally or not, we invalidate the patient.  Cowden’s Syndrome patients will undergo insane numbers of procedures, surgeries, hospitalizations and testing in their lives.  They all matter.  Because we matter.  And while we are forever grateful every time a surgery is smooth, benign, and uncomplicated, we are all a little more rattled than we were before.

counting2

So LOSING COUNT, is not acceptable.  It somehow trivializes the nature of what goes on here.

We didn’t get to the beach this summer.  We did get to Disney.  Thank goodness.  Because pretty much everything else we did involved traffic, a co-pay and a parking garage.

We are blessed.  We are grateful.  We are in tune to the tragedies and horrors around us.  But, sometimes it gets lonely.

We miss barbeques and parties.  We cancel at the last-minute.  We rarely socialize.  It’s not because we don’t want to.  It’s because things change so quickly we can not keep up.  And then it looks like we don’t want to.  But, it’s just not true.

We are eternally grateful to the people who reach out.  Just for a minute. Because it matters.

If you’re reading this because you know someone with Cowden’s or a similar syndrome, my advice to you is reach out.  Text.  Call.  Email.  It’s not about money, or grand gestures.  It’s the 5 minutes you spend that will truly aid in the recovery process.

Because recovery is essential.  Number 15 is just around the corner.  And even though that’s a “regular” surgery, I bet not many of us have had our wisdom teeth extracted at the age of 12.

It’s physical.

It’s mental.

It’s emotional.

It does not stop.

BEATINGCOWDENS

 

 

Hurry up… and waiting rooms…

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

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

Waiting.

Alone with our thoughts.  Not always my favorite place.

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

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

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


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

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

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

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

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

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

 And I’m impressed I got her there.

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

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

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

So very hard to believe.


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

World Rare Disease Day – Advocacy and Awareness

World Rare Disease Day is February 28th.  Although the actual day is February 29th (the rarest day…)

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It is a day of raising awareness across the globe about the 7,000 rare diseases that plague 1 in 10 people.

Our fundraiser has ended for the year.  Our checks have been sent.  All that’s left for tomorrow is our denim ribbons and our shirts.  This day is right up Meghan’s alley.  Meghan, whose entire platform has become raising funds and awareness, relishes a day set aside for just that.

Although some days I suspect it would be easier to be an advocate, rather than a patient AND advocate, I suspect   am sure that we are more effective advocates BECAUSE we are patients too.

care_rare

I get that not all diseases, ailments, or medical issues are “RARE.”  I also fully understand that that doesn’t make one more important than the other.  It’s just that when you have a chronic illness, life is really challenging.  When you have a chronic illness BECAUSE of a RARE disease, that really has NO treatment, and definitely NO cure, some days the hill seems insurmountable.

I love someone rare

I texted my husband yesterday afternoon to let him know I was going grocery shopping.  He told me I was nuts.  A week post-op from vascular surgery that put 25 incisions in my right leg, he might have been right.  Except he didn’t argue.  Timing would not allow him to go.

Grocery shopping in my house is an endeavor.  I cross a bridge, and hit not one, but two stores – miles apart before returning home after about a 4 hour round trip.  It’s one of the few things easier in the winter – as I don’t have to pack ice!

Why such a journey?  Meghan.

Among other things I have learned from my daughter, she has inadvertently schooled her parents on the value of nutrition.  Meghan has had food “issues” since birth.  Slowly we have played and peeled away and adjusted her diet to be free of Gluten, Casein, and Soy, as well as most dyes and preservatives, and highly acidic foods.  She takes digestive enzymes with every meal, and a host of nutritional supplements.

She went from grossly behind in speech/ language to miles ahead.  She surpassed extensive sensory issues.

I don’t cook.  Ever.  But, I shop.  And it’s my job to make sure the tools are in place to whip up tasty meals for Meghan, and all of us.  My husband never disappoints.  He is creative, tasty, almost passionate about Meghan having a culinary experience she will enjoy.  He is fantastic.

I shop at Wegmans.  And at Whole Foods.  Most things Meghan eats are organic, and  by default a lot of ours is too.   My grocery bill is usually about half a mortgage payment every 3 weeks by the time I feed the dogs too.  It is the sole reason we don’t settle all out debt.  And it is worth every penny. Nutrition is without a doubt the best investment I have made into the health of my child.

The game changer was the addition of a nutritional cleansing program I have come to trust into her diet.  Felix has been using it for almost three years.  Meghan and I for about 18 months.

Felix needed to lose weight.  But almost as an after effect, after losing 50 pounds, he noticed he felt great.  I cautiously introduced the product to Meghan in slow, low doses.  Once I was clear she had no reaction, I went all in.  For well over a year now she has had a protein shake for breakfast every morning, and since starting school she takes a meal bar for lunch on school days.  Over 40 grams of healthy, well-digested protein a day, and this child has done nothing but grow!

Growth spurt?  Maybe.  But the hair, the skin, the nails, the teeth.  She glows of good health.  She missed her shake for 2 days a month ago.  She had a tough swim and felt awful.  Coincidence?  Maybe.  But she’s not even taking chances any more.

In my house we have a protein shake every morning, and Meghan has some organic, home-made waffles too.  We don’t just trust any protein shake.  Ours is high in whey protein from “happy cows” in New Zealand.  And my girl who can have no dairy at all without severe pain – tolerates these like nothing.

isagenix shake

Leaves a mom to wonder- maybe it’s not a “dairy” allergy, as much as a “what’s fed to the cows” allergy?

I could debate processed vs. natural vs. organic all day.  What I have here is results.

When you are fighting a rare disease, you need to have the best food in you as possible so you can battle like a champion.

Meghan got out of swim practice tonight.  She never gets out of the pool.  Her coaches know that.  I know that.

“It hurts Mom.”

Dropping stomach, smiling face…

She knows.  All of it.  Whether I say it or not.  She misses nothing the doctors say, and despite my wishes they ALL talk right in front of her.

She has earned the right to sit out.  Her coaches know how hard she works.  She waited for starts – to get a few in before Sunday’s Silver Championship meet.

On the way to the car she told me she wasn’t sure the knee would hold till May.

strength

I am still waiting for a call back from the orthopedist from last week.  Apparently her notes are being typed.  He can’t possibly speak to her case without them.  He saw 65 patients the day we were there.

The knee is swollen.  We will try ice.  Hopefully that’s it.

“What if it’s blood?”

“What if it’s not?”

That’s kind of how the conversation went.

Truth is, neither of us know.  So we will press on.  We have the main plan – the one that lasts till May.  And we have the back up.  The one where we just yell “plot twist!”  and go with whatever happens.

Why did I go grocery shopping last night?  For Meghan.  For her food.  And so she sees me press on.  Despite being hurt.  Because if I don’t press on through tough times, how can I ask the same of her?

My Mom may not have a “rare disease,” but I learned stubbornness, stamina and work ethic from her.

Rare Disease Day 2015.  It’s not so much about “celebrating” as it is about advocacy and awareness.

Because the under diagnosed, the underfunded, and the often ignored – matter.  Very much.

We are BEATINGCOWDENS… One day at a time…

Global Genes hit this one spot on!
Global Genes hit this one spot on!

The Speed of Life

speed of life 2

I am always amazed by the speed of life.

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

Rare Disease Day Fundraiser

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

PTEN logo global genes logo

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

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

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

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

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

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

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

help from my friends

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

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

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

friends uplifts-the-soul

We have to try to slow things down.  Sometimes.

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

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

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

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

“Butterfly is my favorite!”

keep-calm-and-swim-butterfly

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

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

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

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

“If… Probably…”

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

The speed of life can be overwhelming.

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

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

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

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Pain is temporary….

At least I hope so.

I vaguely remember a shirt my older sister used to wear when she was swimming.  The message was something like this.

pain is temporary

It was motivational, meant I am sure to remind the young swimmers that their fatigue from grueling practice would translate into race times that would forever keep them proud of their accomplishments.

And in that case, I hope the pain, the pain of lap after lap, translated into successful meet times that led to a gratifying feeling of pride.

But what about when it’s not that neat?  What about when you can’t sort it out in a package, or tie a bow on it?

There is emotional pain.  The empty pain of loss.

As I type, I have two lit candles on my desk, celebrating the 60th birthday of my uncle in heaven.  The pain of his wife, his children, his mother, my dad, (his brother,) can not be explained.  The loss is raw.  The pain is an open wound.

I think of my college roommate, and her nephews and sister-in-law preparing for Christmas without their 36 year-old father.

I think of the loss of my Dad, just over a year ago, and the flood of memories and seasonal connections complicating my every thought.

I think of the loss of our beloved Allie Girl last week.

I think… and I think.  And I know how badly it hurts.  And I know we are so far from alone.  I am grateful not to be able to imagine the depth of the pain some feel.

pain is real

Pain is temporary…

There is the pain of anxiety.  Very real.  Depression.   Equally crippling.  I’d be lying if I said I haven’t battled with both my whole life, amped up by this Cowden’s Syndrome torment under which my girl and I will live forever.

Try as I might, the worry is stifling.  The sense of urgency all the time is exhausting.  There is little room for error.   Screenings, medications, lab work, surgery.  All scheduled with precision to conserve sick days and minimize missed school.  Except when I can’t.  Like when it’s an emergency.  Then we just roll with it.

The anxiety weighs on my girl as well.  11 years old, trying so hard to be normal, and to fit in.  But, the reality is there is no “normal.”  So she fakes it as best she can, blessed to be surrounded by some spectacular kids.

But, she gets mad.  Mad at the doctor, mad at her knee, mad that she takes two steps forward and three steps back, in this poorly choreographed dance she is forced to participate in.  Mad that she can’t be “the best,” because her own best is unacceptable to her.  And some days when she is extra mad, I wonder about the thyroid.  Cause its absence affects all things.  And this week came the phone call that the numbers have increased 400% over the last 3 months again.  So we continue to raise the dose of a medication that I don’t think does a damned thing for her.  We play the game while I search, frantically for someone to “get it.”

Pain-can-change-you

Pain is temporary…

Except when it’s chronic.  And it involves every single minute of every day.  And the one medication that does work is off-limits.  And the surgery to plug the hole in the artery that was likely provoked by the absence of THAT medicine, causes and abundance of scar tissue and this feeling of a lump the size of a cashew or two exactly where the knee should be able to bend.  And you have no way of knowing if its going to get better, or happen again.  Any minute.

And the pain, well if it was only in your knee it would be better.  But it’s in the shoulder, and the neck, and maybe it’s caused by the feet over a 1/2 size off, or that slight curve in the lower spine, or something else no one cares to figure out.

So, you gather your spoons.  And you borrow a few.

keep-calm-and-save-spoons-2

And you press on.  Through sixth grade and onto the principal’s honor roll, and through student council, and drama club, and fundraising activities, and swimming your butt off.  Cause what choice do you have?

hopeful-spoon

Pain is temporary…

We talk about injury pain, vs healing pain.  Tonight’s pain counts as the healing type cause it was generated largely by exercise.  This pain is movement in the right direction.  Swimming heals the soul.

You have to find what heals the soul, or you will lose your mind.  There is no other way.

Pain is temporary… cause it needs to be.

You have to find what brings you peace.

Two weeks ago on December 4th, I chose this.  The butterfly breaking out of the cocoon.  Free forever.

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I miss my Dad.

My heart is full.

But we press on.  Because pain is temporary.  Even for all of us in the middle of the worst pain of our lives.  The sun will shine again.

Channeling that energy into raising awareness, fundraising, and helping those whose sun hasn’t come back up.

hero

Jeans for Rare Genes Fundraiser  (Click here to support our fundraiser for the Global Genes Project and the PTEN foundation)

We are living real life, AND

WE ARE BEATING COWDEN’S TOO!

Vascular Road Maps and other Cowden’s adventures…

I sometimes hate the saying that things work out the way they are supposed to.  Sometimes I just don’t buy it.  But, then there are other times.

I have suffered with varicose veins since I was in my early 20s.  I had 2 stripped surgically before I was 30  I had 5 VNUS closure procedures in 2011.

Over the years I have tried compression stockings, switching to comfortable shoes, losing almost 40 pounds, and the veins just keep on bulging.

It gets to the point that the throbbing in my legs is the last thing I feel before I close my eyes, and the first thing I feel when I wake up in the morning.  During the day I get distracted.  And when I get home at night to take off my shoes and switch to pajamas, the size of my legs is noticeably larger.  The swelling is evident.  The blue veins bulge.

Although this is far more than a cosmetic issue, the ugliness and the irony doesn’t help.  Last summer I bought shorts.  In a size 2.

 

This is not my leg - but a close comparison...
This is not my leg – but a close comparison…

This summer I barely ever wore a pair, and despite having a pool at home, I never put a bathing suit on.

As Meghan has battled with her AVM (Arteriovenous Malformation) in her right knee since around 2009, I have learned more about the vascular malformations that can be associated with the PTEN mutation that causes Cowden’s Syndrome.  It seems the connection is documented, but small sample sizes make it hard to study the specifics of this rare disease and all its variations in detail.  See there are differences even within the PTEN mutations that link us all.  Some are germline mutations, some are frameshift, some are missense, others nonsense.  AND, there are further specific differences too complicated for me to process.  It seems, in layman’s terms, that each mutation manifests slightly differently, although there are major criteria that link us together.

And, it seems that the frameshift mutation Meghan inherited from me, is likely at the root of our vascular problems.

Another symptom I have dealt with for years, explained, but not gone after this PTEN diagnosis.

I had an appointment with a highly recommended vascular surgeon on Tuesday. I expected what I have come to expect.

There was the sonogram.  The attempt at settling out the roadmap of veins, so many of which have already been treated. It is no easy task, and I leave them at a disadvantage because I have had my vascular work done in several different facilities.  (You can read that as difficult to please.)  Though for the first time I was told that the deep veins in my left calf are so dilated that they are at great risk for blood clotting.  The blood sits stagnant there.  That apparently is not the most intense of my issues.

winding-road-4849145

Then there was the visit with the doctor.  A young, bright eyed, refreshingly competent doctor who was very interested in my Cowden’s Syndrome, and my previous abdominal surgeries.

He asked if things got worse with the vein in my leg after the tubal ligation in 2011.

“You mean the hysterectomy?”

“No, that was the following year.”  He was reading from a sheet I had given him.  He was right.

I guess somehow I had blocked the tubal ligation which had become unnecessary less than 12 months later when Cowden’s and a uterine polyp (post breast cancer) necessitated a full hysterectomy.

“I’m not sure, why?”

“I am wondering what is causing these veins to turn.  And I have to look at every possibility.”  As he places his hand on my abdomen.

“How long had that pulsing been there?”

“Um… I don’t know.  (Feeling incredibly dumb for ignoring my body) Why?”

“Well, I won’t even consider surgery without some major tests.  First I want a full abdominal CT to check for vascular malformations.”

Now truth be told I wasn’t shocked to hear this.  I had a nagging, behind the ear voice telling me to get that pulsing checked out.  But I had met with a vascular surgeon in July and that turned train wreck.  So I was a bit delayed.  I also I guess didn’t really like the fact that he could feel the pulsing too.  I thought, well I thought that was just mine….

So I left with a script for the CT, waiting for authorization, and a script for blood to assess my kidney’s capability to handle the CT dye.

And as I tried to process that, I thought of everything.  I ran the gamut from aneurysm to AVM.

As I washed my hair the next morning (I do my best thinking in the shower) I had one more thought.

MY SPLEEN!

respectthespleen

I had never mentioned my spleen.  The hamartomas/lymphangiomas/masses on my spleen, the largest of which are 4 cm round.  I was told they are vascular.  I have been watching them with periodic MRIs and I was told as long as they stayed stable I could keep my spleen.

I really hope they aren’t misbehaving.

I like my spleen.

spleen

I also like that this doctor cares enough to check everything out first.

Pain in the butt?  Absolutely.  Life-changing?  Maybe.

The other doctor was ready to take the vein out in the office with no prior testing.  This guy told me I need an ER and tons of pretesting.  You know what?  At least he takes things seriously.

So now I wait.  For authorization.  For testing.  For a whole host of inconvenient to schedules to processes.

And fortunately there isn’t much time to waste on worry.

Life is busy.  We squeeze what we need to into the crevices.

We can’t let Cowden’s Syndrome distract us from this life that needs living.

This one is a favorite of a dear internet friend :-)
This one is a favorite of a dear internet friend 🙂

 

Random Acts of Kindness

 

random-acts-of-kindness-1

With the recent ALS Ice Bucket Challenge, we have seen ingenuity lead to a spike in funds and awareness for a horrendous disease.  Fundraising for the organization is at an all-time high.  I hope, sincerely and with my whole heart, that this influx of funds is well-managed, that it gets into the hands of researchers, and that is yields major steps towards a cure for this heart-breaking syndrome.

All this awareness raising got to me this week.  We donate what we can to our church, and various charities near to us, but this week I got reflective.  I donated to ALS and three charities that were not ALS, and have nothing to do with PTEN.  My donations will not impact the world in an earth-shattering way, yet it felt good.

I’m getting my gold porch light ready for September – Childhood Cancer Awareness month.

heroes_among_us_childhood_cancer_greeting_cards_p

Other people suffer, and all of us – disease specifics not to be debated, could stand to have a cure around

But, regardless of your opinion, I think this ALS Ice Bucket thing did more than raise awareness for ALS.  I think, it increased our awareness of humanity and other people’s struggles.

random-acts-of-kindness

A few days ago in Costco I had over estimated my strength.  And as I wondered how I would get the chair into the car, two gentlemen came from nowhere.  Different places I might add, to work together to fit the chair into my car.

Then I received a card in the mail.  It had a check enclosed for us the for a charity of our choice, or something fun.   The handwritten note told me that Meghan and my story was impacting at least one life.  The need to keep sharing was renewed.

rak card

rak card2

 

And I connected on Facebook to a man who we met in Disney last year.  He and his wife and Meghan struck up a conversation on a long bus ride.  He had a service dog.  She was enthralled.  She was raising awareness of Cowden’s Syndrome.  He tried several times to send me a link to a song that made him think of Meghan.  He was finally able to get it through.  I cried.  My little girl is making a difference and this man took the time to let us know.

In the mail was a package from a friend, a former student, with a “big sister” type of compassion for my girl.  There was a letter (which wasn’t for me to read,) and a key chain for Meghan, and one for me too.

rak keychain

rak keychain2

None of these people could have known I was having a pretty tough time.  I don’t so well in chaos, and the house was absolutely upended.  In the year that everything broke, the bay window was being replaced, the house needed new… lots of things, and the leak in the pool was becoming evident.

Random acts of kindness.

random-acts-of-kindness-2012

That’s why they matter.  So much.

We try to pay it forward as much as we can.  So special to be on the receiving end as well.

Whatever the cause.  Whatever the reason.  An increased awareness of others will make the world a better place.

Do something nice for no reason.  With no expectation of anything in return.  Just because.

pay-it-forward-2014-random-act-of-kindness

“A tranquil mind is not a little gift…”

Growing up I didn’t spend a lot of time with my father.  Despite some really fun day trips, I didn’t really know him well at all.

My Mom married an incredible guy when I was in high school, and there was this love and support that was there every day.  We got to know each other quickly and well.

And that’s my tale of two fathers.

Ken has been a constant in my life since I was 15.  He loves me like his own, and has treated my as such, without fail, and in all things.  I adore him.

Dad struggled after Vietnam, after horrors that I can only imagine.  He struggled to find his way, and to find the balance.  He married twice, and had three kids, then he spent 10+ years in a long relationship.  He lived all over.  He worked to add his charm and personality to nightclubs all over NY.  He knew how to live on top of the world, and at its bottom.

Several years ago life brought him back local, and for the first time that I could remember, he wasn’t working nights.  We spent more time together.  He came to dance recitals and swim meets for Meghan.  He came to my house for gatherings, and just to be with us.  We liked having him around.  All of us.  Even the dogs.

I got to have two “Dads.”  While one is called Ken and one was called Dad, the terms are synonymous.  Two very different people.   Very lucky girl.

And I used this time to catch up with Dad.  We would talk on the phone a lot, about anything.  Sometimes he would talk.  And when he did, I listened.  When he really talked about old stories I sometimes even took notes.  Because I didn’t want to forget anything.  I don’t think he would have loved that idea.  I suspect he would have thought it wasn’t worth my time.  But, it was.

Lots of times I would talk.  He was a really good listener.  He knew when to interject and when to stay quiet.  He knew when I needed to hear advice, and when I just needed a sympathetic ear.  Sometimes I get overwhelmed.  And I just need to offload, without judgment or solution.  I called every Friday that I grocery shopped.  Sometimes we talked for hours.

And the years saw a transformation as he was being  treated finally for the PTSD that had tormented his every move since the war.  He didn’t talk much about it, but every once in a while… it was my turn to listen carefully.  And I did.  Gratefully.

Then the conversations started to include talk of him being tired.  Looking for energy.  Millions of excuses listed, tried, tossed.  Then there was the jaundice.  And the blockage.  And the pancreatic cancer.  And within about 10 weeks my sister and brother and I said goodbye to our Marine.  “The few, the proud…”  to the very end.

Dad was a philosopher.  Sometimes I was right with him.  Other times we didn’t quite agree.  But, it never mattered.

And in the weeks before his death I became his healthcare proxy – because I do healthcare all the time.  And I got his medical records,and put them in a binder, and Dad laughed because he somehow knew I would – and so did my brother and sister,  and my siblings and I took him to the fancier hospital.  And we asked some questions.  And we talked a lot.  But, it was done.  In the end it was just time for it to be the end.

But I was not, and am not ready to let go.  Maybe that’s unhealthy.  Or maybe that’s keeping the memory alive.  Whatever.

Dad, stopping by?
Dad, stopping by?

It took weeks to clean out his small apartment.  I touched every paper.  I read, and sorted, and filed.  I made more binders, and file folders.  I shredded only with great care at my own dining room table.  And as I sorted I found little scraps of paper.  Little random thoughts.  Notes.  Scribbles of Dad’s.  So I gathered them all together and I taped them onto large sheets and I saved them as a PDF for my brother and sister.  And I laminated the originals for me.  And sometimes on quiet nights, when my mind is busy and I can’t sleep, I peek through those notes.  Almost like a chat with Dad.

Tonight I flipped open to the words, “A tranquil mind is not a little gift.”

And I paused.  And I smiled.  Dad’s mind was not always tranquil.  But in the end it was even through physical torment.  He had lived enough emotional torment to know “A tranquil mind is not a little gift.”

I am a worrier.  Not a shock to those who know me even a little.  But, also not unfair, all things considered.

This was a light week here for doctors.  Only 2 appointments and one argument with a disrespectful office manager that led to a formal complaint.  Oh, and one random really large pathology bill that was clearly not done right.  The appointments were fine.  One was annoying in the leaving at 7 for an 8:30 to be taken at 10:40 to get home around 2, but all things considered it was smooth.  The other was with the gastro doctor who wants another visit to the ENT to peek down at the esophagus.  (If only I could get a scheduler to do these things…) And the fight of course was with my doctor.  The office staff of a vascular surgeon for a procedure I definitely need soon.  I’m in the market for a new vascular surgeon.

But since we had some time, and we were looking for some light entertainment, we replaced the bay window in the front of the house.

So after a slightly tumultuous, but altogether fun trip to Disney, we returned very late Tuesday, slept most of Wednesday.  Did lots of laundry, sent my husband to help out at my sister’s on Thursday, and Friday got ready for the new window.

Not that we WANTED a new window.  We just bought the other one 14 years ago when we moved into the house.  But about 2 years ago there was this little black spot that kept growing.  And we called the company to look at it, but it turned out there was a class action lawsuit we had to participate in and I filled out miles of paper and it took almost a year to get someone to the house.  By the time they came the little black spot was large and clearly water related.  So the nice man took pictures and the conversation was about replacing the center of the window.  Until they called the next day and said the black spot was in the wrong places, and the window would have to be replaced.  But since the window was over 10 years old we’d get a percentage off the cost for the window and installation.  Um, well that price was so wild we bought the window ourselves.  And Ken and Felix and his friend John got it to our house, and finally Saturday all the planets aligned to put it in.

It was supposed to be a half day job.  It was supposed to fit right in.  And Felix, and Ken, and John, and Bobby, and Brendan worked their bottoms off.  But, there was some cutting of walls, and by the time it was all back together on the outside it was well past 11 pm.  That wasn’t the inside.

bay window

bay window 2

I like the house neat.  Actually I need the house neat.  And you can tell me whatever you want about how it doesn’t always happen like that, or I have to give it up.  But I can’t and I won’t.  Because it’s a control thing.  I know it.  I’ll own it.  I can not control Cowden’s Syndrome, or any aspect of why Meghan feels cruddy so much of the time.  I can not control random illnesses or natural disasters, or unscheduled hospitalizations and surgeries, or any other obstacle that is going to come into my way.  But, through much experience I have found it markedly easier to handle every single crisis with a clean house.  Something about having order in the home, gives me some sense of peace when the waters are very rocky.

So, at 11 on Saturday night I looked around and began to freak a bit.  That’s when we decided to paint.  It was time anyway, and the house was on its ear so to speak.  So I prepped the room and there was paint.  And the living room and dining room are back together, but the hall needs a coat too… and you get the idea.

living room chaos

Not to mention that a few weeks ago Meghan began the move from her room on our floor to the upstairs of our cape.  There are two rooms with that peaked roof and lots of floor space.  (There have to be some perks to being an only!) She has a bedroom, and a room with a desk, and all the things she loves.  It has taken 4 weeks to clean out and move her, but we finished today.  And as I sat in her room I cried a little.  I remember distinctly being 9 months pregnant and crying in that room (see a pattern?) I was so scared.  I was right to be scared.  Some scary things have happened in the last 11 years.   This time I know the move upstairs will be far less painful than the one she’s sure to make just a few short summers from now.

megs empty room

It was a good time to move.  Junior High starts in just a few days really.  A whole new school.  A new chapter.  Turning point.  And as she decided what to keep, toss, and donate, her personality began to shine through.  With just a few pictures left to hang, she has created an atmosphere that is representative of her.  Now to keep it clean and clutter free… 🙂

But nothing is without event, and there is no time when I am fully at rest, as I frantically tossed my flip-flops off when I heard her cry out,” I NEED YOU!”  I arrived at the top of the stairs to find her crouched over grabbing a leg that has been giving her trouble for days.  One too many trips up the stairs, or on the floor sorting things?  Who knows.  Just like the headache that’s been around one day too many.  Sinuses, allergies?  God, I hope so.

At some point I’ll have to go to sleep tonight.  And tomorrow will be for more appointment making, and dealing with random bills.  The side of the house is littered with trash.  There are 10 bags being donated Saturday morning.  The clutter and dirt are disappearing simultaneously – with LOTS and LOTS and LOTS and LOTS of work.  But my sanity is being restored.

And while this is far from how I would have chosen to spend this week – so close to the end of summer, Meghan got some time in with some friends so it was in fact a success.

So much flux.  Moving Dads things in earlier in the year jostled the basement.  Moving Meghan upstairs caused some purging.  And slowly everything is coming together as it always seems to.

I think of how many times I would have called my Dad this week.  The number is too high to count.  I miss him every day.

He told me once to keep writing, to just keep letting it all out no matter what I thought of it.  So I do.  And I think about how he would have respected my need for order, while encouraging me not to sweat the small stuff.

Tonight I think calls for a glass of wine, and some reflection.  Gratitude for an almost “normal” week with largely “normal” problems.  Feeling grateful that my mind, while always a flutter, is somewhat tranquil, and…

“A tranquil mind is not a little gift…”

tranquil mind

Thanks for the chat Dad.  I miss you. A whole lot.

 

“It is only with the heart that one can see rightly…”

There is something about having a kid who struggles, whether physically, mentally, emotionally, or in any other capacity, that forces you to open your heart and mind to things you may never have “seen” otherwise.

little prince

We are blessed.

We have a beautiful, witty, articulate, charismatic and spunky young lady.

She knows pain, and she knows it well.  And some days that pain is like plowing through a stone wall, while others its like walking across a pebbly yard barefoot.  But, there is sparsely a day with no pain.

She knows competitiveness.  Although she would like to be the fastest runner, she is starting to work towards a more reasonable goal in a no impact zone – the pool.

She knows intelligence that book smart children know, and she knows the perspective that few adults can master.  She can look at other people and want to talk to them.  She can wonder about them.  She can empathize with them.

She knows what its like to be sick.  And in surgery.  With IVs, and needles, and scars, and recoveries.  She knows what it’s like to never be “well” only watched.

She is learning, step by step, that “well” is more of a state of mind, than a state of being, when each week is peppered with some type of appointment.

Yet, she knows that even at the depths of her own Cowden’s Syndrome battles, there are others.  With and without our syndrome – who fight a battle unbeknownst to us.

Meghan doesn’t use a wheelchair at home.  For this I am grateful.  Although as I teach my daughter about homelessness, and how we can never be too sure from where they came, or whether it could through a series of unfortunate events, become us.  We practice a deep understanding of reality in Disney World.

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Meghan’s pain, so much of it, stems from repetitive motion.  Too much walking, any running, too many stairs, too much kicking or pulling in the pool… all of it has repercussions.  So Disney, by it’s very nature, and its wide landscapes requires much walking.  And, as we try every year, even with a little here and there – the pain is deep and inevitable.

So for that week every summer she gains an even greater perspective.  She lives in a wheelchair.  With all the inconveniences that come along with it, in an effort to save the needs from irreparable pain, and the trip from being a wipeout…she rides.

And on the first night after the vomiting I watched from a distance, as Felix helped her onto the handicapped ramp on the bus.  And there was a knot in my stomach as I watched my girl get strapped into the bus in the wheelchair.  This beast, this Cowden’s Syndrome we fight.  Well we fight to win.  But who can know?

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I stop myself from wondering too far ahead and I reflect.  On the old me.  The me who used to look at people in wheelchairs riding buses as an inconvenience.  A delay in my precious time.  The me who used to judge and try to guess why they would need a wheelchair.  The same me who used to judge a lot of things.

We will unpack.

The wheelchair will be stored.  Hopefully for a very long time.  But, it will be there, in the basement.  In case.  In case we need it for anything.  Because the pain, well it’s always there.

Fortunately, she is in a position where her stubbornness still has the power.

And I will think, as I drive her back to swim practice in a few weeks, about the other mothers.  About the ones who wish their child’s wheelchair use was temporary.

And I will think about the phone call I got this week.  The one about the AVM growing in the knee again.  Timed on the same day she was vomiting in the hotel room.  And I will be grateful that we don’t need surgery right now.  And I will be grateful that it is not in her head, or any other life threatening spot.

I am humbled.

By her grit.  By her stamina.  By her determination.

I am grateful.

For the opportunities afforded to my girl.

We will find the balance.  We will pay it forward.

I don’t even really remember the judgmental me.

I am too busy working on

BEATINGCOWDENS!