Six Wheels and a Boot

At any given point during our 10 days in Disney, our party of three also had six wheels and a boot.

We must have looked unusual to anyone who passed us by.

I traveled with a virtual pharmacy in my purse, which is really simply a string bag on my back, because who really wants to be fancy anyway?

The week before we left we had a PILE of appointments.  I think I lost count at 17 in the 5 days.  One of them was the orthopedist Meghan sees a few times a year.  He was catching up on the new diagnosis of Ehler’s-Danlos Syndrome, paying careful attention to her knee, which by all accounts has been her ‘Achilles heel’ her whole life.   There had been pain in that knee for weeks prior, which is always a concern.  One of the surgeries she has had repeatedly has been to correct the tracking of the patella.  Anxiety is warranted.

This doctor suggested an MRI to confirm the knee was tracking correctly.  He also said that she was ‘not to walk consecutive distances longer than one block’ at least until the pain in the knee settled.  He prescribed a painkiller and a muscle relaxant.  He told me she was not to walk the parks in Disney. She needed to spend most of the day confined to a wheelchair.  And while there is gratitude for the temporary nature of this situation, there is a mental and emotional adjustment to enduring it.

This was not a totally new arrangement for us, as the knee has limited her walking in the past.  However, there is always the hope that with age things will change.  And while Meghan is healthier and stronger than I have ever seen her, the realities of Ehler’s-Danlos and its wear and tear on the connective tissue are real and very present.  So, out came the wheelchair.

And, one of my appointments was an MRI follow up for the foot that has been a disaster since I fell at work January 8th.

The initial fall partially tore the lisfranc ligament.  Which might have been easier to recover from, except ligaments don’t show on xray.  So the initial diagnosis was a sprain.  Which was treated with 5 days rest.  Then 2 weeks later when the pain was more than it should have been and my primary asked for an MRI, GHI decided I didn’t need one yet and I could wait 6 more weeks.  So, I forced the foot into a shoe for a total of 8 weeks post injury before I couldn’t stand it anymore.  At that point an MRI finally picked up the partial tear.

I was booted for about 6 weeks.  I was pulled out of work and off my foot, but largely too little too late.  I returned and handled the foot conservatively, waiting to feel better.  Or at least closer to being able to walk like I did on January 7th.

Every other week there have been check ups at the podiatrist.  Two visits to a specialist in NYC. Days blended into weeks and my patience started to wear thin.  I began Physical Therapy, but even the PT was baffled by the amount of pain in the foot and encouraged me to keep looking for answers.

A repeat MRI was scheduled for 8/2.  I obtained the results on 8/14.  While the pain in the foot should have been an indicator, I was not prepared to hear that I needed to return to the walking boot, as I had a likely stress fracture in the cuboid bone, and a neuroma in between my second and third toes.   This mess courtesy of my body compensating to protect the lisfranc ligament while it healed.  I had unconsciously shifted all my weight to the outer part of my foot.  I was to limit my walking.  By that night I was back in my walking boot ordering a knee scooter for the trip to Disney.

I remember after the fall in January, and even after the diagnosis in March, feeling so happy that I would at least be healed and back to walking before our trip.  The best laid plans…

So when we headed out for a 5AM flight on 8/18, we had all our suitcases, a wheelchair and a knee scooter.  We checked three bags, and Felix pushed Meghan while I scooted behind.  We were a sight.

And after waking up at 2:30 for our flight and traveling via scooter through the Magic Kingdom, I wanted nothing more than to go home.  Immediately.  I felt like I had done a bad step aerobics video over and over on only my left thigh and butt cheek.  You might not realize the strain on the thigh when you rest the knee with a way-too-heavy boot hanging off the back.  There was just no way I was going to make it.

So Monday morning I released Meghan and Felix to the Magic Kingdom.  I sat in the hotel room.  I cried for about 10 minutes.  I called my mom. I made a cup of tea.  And then I made a plan.

I researched a new set of eyes to consult on the foot when I arrived home.  I rearranged our return flight to a more civil time to I could book an appointment for the 29th with confidence.  I stretched.  I took way too much Advil.

And sometime that morning between the NSAIDs and the caffeine, I started to feel the magic.  I sat on the hotel balcony.  I strengthened my resolve.

I am not sure at all why it seems everything is so hard.  I couldn’t fathom why I had sent my otherwise healthy kid off in a wheelchair, while I sweated inside a walking boot,  all the while healing from the Fine Needle Aspiration thyroid biopsy two days prior for thyroid nodules recurring on my previously quiet and well-behaved remaining thyroid lobe. (Partial thyroidectomy 1993 – dx multinodular goiter, 18 years before I had ever HEARD of Cowden’s Syndrome)

In that moment most of what we were facing had nothing at all to do with Cowden’s.  And yet, the same choice existed in that moment.  I had to decide that I was going to make the best of it.  I had to decide that I was not giving up my family vacation for more medical nonsense.  I had to decide to find a way to enjoy.  Because the struggles, the pain, and the drama would all be waiting for me at home whether I found the “magic” or not.

All the positive thinking in the world was not going to make anyone’s pain go away.  Not even a stomach burning amount of Advil and a few strong cocktails could do that.  But, I am a huge believer in a positive mindset.  And in that Monday morning overlooking the Hawaii themed resort, things started to fall into place in my mind and my heart.

We get 2 weeks a year to spend as a family, free of other obligations.  We get 2 weeks a year.  And I wasn’t going to waste it.

I joined them later that day, and never left them again.  We traveled together – a family of three, six wheels and a boot.  We laughed a lot, we argued a little, and generally found the best in each other.  We met up with my sister and her family for a super fun night together. 

We got to Mickey’s ‘Not So Scary’ Halloween Party for the first time.  We saw more characters than we’ve seen since she was quite young.

Finally, after many years of staring at the giant “Hot Air Balloon” in Disney Springs, I got myself on.  Because, Why not?  Magical.

 

We found that our resort had a stand serving dairy free Dole Whip – the first time my 16 year old ever had soft serve.  Magical.

 

Some people wonder how we do the same vacation year after year.  They wonder how we don’t tire of it all.  For us, there is a magic that can’t be explained, only felt.  There is wonder in eating safely in restaurants and having access to a bakery free of gluten, dairy and soy.  There is joy in eliminating something so basic as food isolation, and sharing meals, sometimes as a family of three, and other times with some Disney friends.

Even Donald was checking on my boot!

There is magic running into Pluto in the lobby of your resort, or finding the Seven Dwarfs waiting to meet your family.

There is magic in roller coaster selfies, and Figment reminding us to use our imagination.

There is magic in all things familiar, and always finding something new.

There is magic when you seek it, even with six wheels and a boot.

Because there will always be battles to fight.  So sometimes they can just wait 2 weeks.

The foot problem is not solved.  It’s time to find some serious answers.  I won’t open the school year for the first time in 22 years.  These next few weeks will be about making plans to heal.

There is no magical solution for my foot.  There will be more MRIs, and more doctors.

My patience will be tested in new ways.  I am not sure what to expect, and that makes me nervous.

But there will never be a single second that I regret adding 4 wheels and a boot to my own self to enjoy and appreciate the magic with my family.

I know the body can not heal if you don’t nourish the soul.

#beatingcowdens

 

 

delete

Don’t you sometimes just want to hit the delete button?

We were going through vacation photos and I was struck by how easy it was to eliminate images that we found unflattering.  We were able to simply click a button – and they were gone, for no one else to ever see.  Eventually our only memories of the trip would be reliant on the images that remained, so in some ways it was almost like those unflattering moments never happened.  Right?

I love my social media accounts.  I do.  But sometimes I scroll through feeling a bit down, inadequate and lonely.  Everyone looks so happy.  Everyone is surrounded by friends.  Everyone’s house is clean.  Everyone is taking wonderful vacations.  Everyone is resting in their pool on a weekday afternoon…

Then I realize I do the same thing.  No one wants to see a picture of my unmade bed, my tears of frustration, or the times when the family doesn’t really like each other too much.  No one wants to hear videos of me bickering with insurance companies, or dealing with the day-to-day realities.  No one wants to know how often some type of issue simply keeps us house bound.

I started this summer as I do every summer, full of hopeful anticipation that it would bring health, and rest, and time to read, and do lots of nothing.  And, like most of the summers before, that is not at all how it turned out.

I could insert a photo of my unread books, or closets that never got cleaned out, or the files that never got shredded.  I could flash you a shot of my EZ Pass statement, for the countless trips to the doctor… you get the idea.

As we journey through this world of rare disease, and chronic illness together, I use this blog to keep my perspective straight.  Yet, some days it’s hard not to feel like the plate is just a little too full.  And somehow, some way…

This summer Cowden’s Syndrome took a run at us- hard.  The knee has been, and continues to be a work in progress.  The isolation it causes is hard to describe.  The sinus infection caused chaos because the medications wrecked a sensitive stomach.  The knee medicines added fuel to the fire.  Renegade hormones took their toll too.  We are still deep in this journey to figure out PTSD and its manifestations, and ramifications, and where we all fit in.  Cowden’s Syndrome has done some damage.

Yet, despite all the things we want to delete from the summer, there were some beautiful, simple, and just fun times.  There were friends that visited.  There were connections with dear old friends, and some new ones too.  There was a fun birthday party – something we have not had in YEARS!  And, there was Disney… still magical.

With all this on my mind as I went through the vacation pictures, I opted to save some that in previous years I might have deleted.

It was late one night and Meghan wanted to go back to the Magic Kingdom.  I took her back myself.  We made our way up main street and headed to “Dumbo” the first ride she ever rode in Disney – 10 years ago.  We waited on line, and rode our elephant side by side.

I’ve never been so pleased to take a “selfie” in my life.

Then we used a Fast Pass for the Seven Dwarfs Mine Train.  Three years ago I didn’t even ride roller coasters.  Now, I’m so used to the ones in Disney I don’t give them a second thought.  As we headed over the first hill the sky lit up with the fireworks display over the castle.  We were in awe.  I think it will probably be one of my most magical Disney memories ever.  This picture, although not  flattering, captures that moment so well.

Most Magical Moment

There were many moments this summer I wanted to “delete.”  But, then there were others.

So in an effort to give you a little more “real” and a little less “facebook fancy” I decided to keep these.  And, I even decided I like them.

Because life is not pretty.  Sometimes its downright nasty and ugly.  Most of life is not us in our best clothes, and hair.  Most of life is sweats and sneakers… that are hopefully clean and matching.  And if we delete all of that, and spend all of our time looking for the perfect, well, I think we’ll miss some magical moments.

Cowden’s Syndrome is not going away.  Plans are going to get messed up and changed at inconvenient times.  There are going to be lots of housebound days full of isolation and loneliness.

But, as I go through my camera roll, I am going to concentrate on deleting less.  I am not going to judge a picture by a random perfection scale.  I’m going to judge it by the magic within.

We asked a Disney employee for a quick shot on the iphone…

And with this girl, I will learn every single day.  I am just so lucky to be her mom, and I won’t delete any of it simply because it’s hard.

We remain forever

#beatingcowdens

To My Girl On Her Birthday

Sometimes you’re on top of the world.  Stay HUMBLE.

Sometimes you’ve hit a low.  Stay HOPEFUL.

The Lokai bracelet nailed it with real world advice.

Meghan as you turn 14, there is little more I need to tell about our back-story.  Anyone who wants to know whatever we are willing to share, need only look through the posts on this page.

Tonight my thoughts are on moving forward.

You’ve seen some low lows these past years.  But, you have also been blessed with some very “high” highs.  You are no stranger to struggle, but you are also well-acquainted with overcoming any obstacle, large or small, even if they are thrust repeatedly into your path.

You are true to yourself at all costs, a rare quality in a teen these days.  And while you wrestle with normal questions, I can tell you that your values, developed through your own processes, are strong and logical in that complex brain of yours.

We spend a lot of time together- more than most mothers get with their daughters.  And, while I am not a fan of the medical circumstances that cost us hours on the Belt Parkway, the Gowanus, the BQE, and the FDR, I am so grateful for the HOURS we have to talk.  About everything.  I am grateful that we have learned a mutual respect, and have even (almost always) safely figured out ways to agree to disagree.

The person you are impresses me.  And not just because I am your mother.  You have worked through adversity your entire life, and you have become stronger, wiser, introspective, and compassionate.

You have learned you actually enjoy (many) people.

You want to help others who have lived lives full of struggle.  And you will.

All of this will shake out with its details in the years to come.  But I want you to always remember this:

Your recent PTSD diagnosis was not a shock to either of us.  Nor is the “head-on” way you are meeting the challenge of learning more about yourself.  You will not sit back.  You will not let life happen with out you.  You will always persevere.

 

You my dear are taking that same pressure that can burst pipes, and you are “making diamonds.”

As you face the year ahead, and you look at the new adventures you will undertake in High School, move forward with the knowledge simply that the past happened.

And now – It’s the present.

While some things will always remain the same, some things will change all the time.


Learn. Grow. Laugh. Take risks.  You might get hurt, but you also are likely to have some of the most magical experiences of your life.

Set goals.  Carry them through, and when you need to – modify and reset.

I will be forever nearby, your cheerleader, and your guide on the side.

We are

#beatingcowdens

TOGETHER.

The days are sometimes long, but the years are short my love.

Savor them. I know I do.

Happy 14th Birthday!

Set Up Surgery on Safari – check

Last Tuesday, on Meghan’s 13th birthday, we woke early and headed to the airport for what has become an annual family vacation.  Disney World is a “happy place” for all of us.  Despite crowds, and heat, we seem to be able to locate so much magic there.  Plus, it’s not here.

I like it here.  In my house, with my family.  But being “here” in a broader sense means doctors and tests, and appointments and procedures.  And traffic, and waiting.  And bills, and phone calls, and all sorts of obligations that often keep me tied to my desk chair.

In Disney someone produces allergy safe meals for us.  In Disney there is no driving.  In Disney there are fireworks and parades and shows.  While we are in Disney Mom watches the dogs and the house.

Those 8 days designed as a respite.  A safety zone.  A doctor free area.  And we look forward to it every year.

This year was even more special because Meghan brought a friend.  She got to bring a kind, compassionate, witty young lady who had been by her side through some ups and downs the past year.  There is not a long list of people who Meghan trusts enough to take into confidence, and I can’t say that I blame her.  But, this young lady has similar loyalty standards, and held her composure as Meghan threw some tough stuff at her.  Meghan is forced to think about things and process things that are not even remotely acceptable to have to deal with at her age.  Most peers are overwhelmed.  Many shy away.  This young lady did not NEED Meghan as a friend, they CHOSE to be friends.  As different as they are, they compliment each other nicely.  So we set off on our adventure this year as a party of 4.  The Ortegas plus one!

MK_PLAZAGARDENEASTLAWN_20160809_7768220184

Once we found our groove, (adding a wheelchair takes finding a balance) we were off and running.  Great food, lots of laughs, and the highs and lows you’d expect from two spunky teenagers.

_DSC6942

_DSC7046

I was distracted Friday when my cell phone rang, while we were on the Safari at Animal Kingdom.  I should have seen the NY number and known what was coming.  But, I answered quickly.

_DSC7647

It was my plastic surgeon’s office.  The one who had told me they could fix my implant some time in the spring… well, they were offering me a spot on August 19th.

If you don’t have the back story on this I’ll give you the quick version.  After a double mastectomy in March of 2012, I opted for immediate reconstruction.  I was very pleased.  Then in November of 2012 I was in quite a car accident.  I took a good hit to my totaled Hyundai.  The implants were intact, but likely never quite the same.  By the summer of 2015 I had been experiencing some pain and discomfort on the right.  I went back to my plastic surgeon in November of 2015.  She told me the right implant had fallen a bit, and I should have (non-emergency) surgery to pull it back up.  Except, she was no longer accepting my health insurance.  The year that was had Meghan in the OR I believe 5 times.  I struggled to get the courage to call the new plastic surgeon.  I was annoyed to have to do all this again so soon.  The initial estimate on the implants was 15 years.  This was under 5.  I finally got an appointment with the new plastic surgeon a full year later, in July of 2016.  He concurred that a surgical procedure to “tighten things up” was a good idea, and that I could schedule at my convenience.  So, I tried to get it scheduled for the summer.  Then I tried for October when we have a few days off.  Then I tried for December… and before I knew it I was looking at spring break, almost another year of what had transformed from pain, to just an odd sensation, all the time.

I listened as I was told I could have the date one week away.  I looked around at the animals on the African Safari.  I tried to keep my conversation low enough to make sure the girls, and no one else on the vehicle was following along.  I promised to return the call in an hour.

I hung up and managed to share the story with my husband.  Then I called my Mom.  Then I called the plastic surgeon back.  “Let’s do it.”

So the following Monday was spent ducking away to make phone calls to set up pre-operative appointments.  Because the plane was due to land at midnight Tuesday.  I needed blood drawn, and a physical Wednesday in order to hold the spot.

Tuesday we left Disney.  The step count on my FitBit was over 142,000  I had covered over 62 foot miles.  I was tired, but happy.

We did have a great week, and while I was bothered on some level that the surgical planning creeped in, I am skilled at managing many things from my cell phone.  And, the thought of getting all that straightened out months ahead of schedule was exciting.

Tuesday it rained.  In NY and in Florida.  There was lightning.  There were delays.  Lots of them.  Our plane landed well after 1 am.  I hit my bed hard at 3 and was on the bus to NYC for the lab work by 9.  After battling NYC traffic there and back, I went for the physical.  Passed, and papers faxed to the plastic surgeon by 4:00.  Success.

nyc bus

Life moves quickly.  We have to keep up.

The call came Thursday to be at the hospital at 6 AM Friday.  While I am not a morning person, only the surgically experienced would realize that is like hitting the jackpot.  It means you’ve got first case.  And that is a giant win.

hospital

 

There was little time to share the plan with anyone.

Yesterday morning I had bilateral implant repair between 7:30 and 10 AM.  I slept till 1, had some ginger ale and crackers and was home by 2:45.

Last night I laid in my bed catching up on Email and I caught one from Meghan’s endocrinologist.  The thyroid numbers have gone a bit off again.  He wants to play around before repeating labs in 6 weeks.

Medication readjusted.  Again.  Illogical.  Like so many other things.

Apparently #beatingcowdens involves scheduling surgery on an African Safari and readjusting medications hours post-operatively.

We’ve got this.

Thank goodness for our time in the “Happiest Place on Earth.”

 

 

On Your 13th Birthday…

 

scan0003August 9, 2016

Dear Meghan,

As I sit to write this some time in the middle of the night, I am reminded of the early years, when so many of the middle of the night hours belonged to the two of us.  Yes, Meg, I said YEARS.

lori & meg

You struggled my girl, but your determination was evident early, like the day the NICU nurse called you feisty.  She was right.  And it has proven to be one of your finest and most valuable attributes.

When I look back on pictures of those early years, it doesn’t seem all that bad.  I guess I never had time or desire to photograph some of those tear-stained days.  And maybe. if it wasn’t for the colicky cry seared into my brain, I might have even come to forget that you considered sleep optional, crying and screaming mandatory, and that carrier pouch a requirement for all things.  At one point we had even taken to calling you a kangaroo baby…

You and your tired Mommy!
                               You and your tired Mommy!

But, I look at the babies in those pouches,  And I think to those mother’s “enjoy it.”  You might find this hard to believe my dear, but there is not a single minute I would change or do over.  Every step along this journey with you has BEEN the journey.  And I have the deepest gratitude that God selected me to be your mother.

photo 23

The path hasn’t been easy.  Sometimes it’s been rocky, and a little unsettled.  Other times its been like traveling through fire. On a bicycle.  With no handlebars.  Backwards. But, I think we’ve all found pieces of ourselves we never knew existed, and there is a family bond between you, and me and Daddy that so many envy.  Not for what we’ve done or where we’ve been, but rather the fact that we have done, and continue to do it all together.

At eight years old, you were tossed a diagnosis of a Rare Disorder, a 1 in 200,000 PTEN Mutation called Cowden’s Syndrome, that has leveled many grown adults.  But, by eight years old, you were already seasoned at doctors, OT, PT, and speech.  You’d been there, and were still doing dome of that.  At 8 you were intimately aware of what it meant to spend hours waiting for doctors, and you had a clearer visual of an operating room than anyone should ever have.  So really, in reality, that diagnosis just pushed us in the right direction to continue to help you become who you were meant to be.

It’s rotten to be the “unusual one”  the one with all the risks and the need for that “hyper-vigilant” surveillance.  But, I’m thankful.

See without Dr. Jill to push us to your diagnosis, without all those things falling into place, it’s likely I wouldn’t be here to write this. Your diagnosis led to mine,  and while I am intimately connected with the reality there is no guarantee of tomorrow on this earth for any of us, my heart is sure that you, my angel, my gift, you my dear saved my life.

I watch you with each passing year, and the challenges pile on top of themselves.   And we both sometimes want to stop the presses and scream, “IT’S NOT FAIR” and the top of our lungs.  but then we laugh.  “Fair” is just a silly word anyway.   It’s not the perspective we use.  It’s not worth our time.

You approach this birthday with 17 operating room trips under your belt, and too may ER visits and, tests, and hospitalizations to count. You have had to make decisions, and think thoughts that are beyond the scope of what you should contend with.  But with grace and dignity you proceed, because none of that is what defines who you are.

Grace,. Poise. Strength under pressure.
               Grace. Poise. Strength under pressure.

 

Despite unimaginable pain, you press on.  Your body would not allow for dancing school or soccer.  But the competitor in you was not to be silenced.  Running was out of the question, so now you “fly,” in the water, 11 months a year 4-5 days a week for hours.  You pull energy out of the crevices of your toes to push through when most would curl up and give up.

First season swimming, a few weeks in. Spring 2013
             First season swimming, a few weeks in. Spring 2013
2016 Working on her "fly"
                              2016 Working on your “fly”

You press on in the community, focused to raise the necessary founds the PTEN foundation will need to create our patient database.  But, you will not turn your back on the charity where you began, Global Genes, “for the babies who can’t speak for themselves,” you tell me.  You make flyers, select venues, advertise and collect raffles.   You speak at schools and organizations across the Island who will have you, to raise awareness that rare diseases are everywhere.  For the last 2 Februaries we have celebrated Rare Disease Day with almost 200 people, gathered because you have a mission.

Youngest “Woman of Distinction” recognized in Albany by Senator Lanza in May.  Proudest parents.

_DSC6895

I watch you talk to people and I swell with pride.  When you’re intermittently stuck in that wheelchair you hate, you decided to help the doubters, the starers and those passing judgment.  A simple business card with a phrase you helped create “Cowden’s Syndrome – Rare. Invisible. Real.”  It starts a conversation, or it ends the behavior.  Either way you manage with grace to rise above.

_DSC0086

You take the high road so many times a day.  I know it’s not easy.  And I know there are people in your path every minute determined not to make it easy.  But, truth be told, as we are learning, there are others out there.  There are real people, at swimming, at youth group, at SICTA.  There are real people who are finally recognizing that you are pretty spectacular. And I don’t mean that in a ‘who is better than who’ way.  I mean it in it’s best sense.  Everyone is spectacular in some way.  You just learned it a little early.

As you turn 13 this week, I wish you so many things, from the depths of my heart and soul;

*Never lose the magic.  Ever.

ALWAYS remember THAT feeling.
                                        ALWAYS remember THAT feeling.

*Never compromise yourself for anyone.  Remember that doesn’t mean to be brick wall stubborn.  It means to keep those morals.  Rise above.

*Always remember no matter how wild and crazy the world gets, you’ve got two parents who will love you regardless… and that is a PROMISE.

*Smile, sing, laugh, act, dance, be sarcastic, and sensitive, and guarded and silly, with a healthy touch of humor thrown in.  Do it all always with respect.

*Continue to constantly take every obstacle tossed at you, and it toss it back, or walk past it and move on. When they tell you you can’t, find a way to show them you can.

*Never let anyone make you feel less than.  You, you are enough.  You are always enough.  God said so, and He is smarter.  Trust.

*”Be the change you wish to see in the word.” – Ghandi

hope_balloons_small2

Your teenage years will be a giant path of self-discovery.  It won’t always be smooth.  But nothing is.

Be you, and it will fall into place.  And in the off chance that none of that works, I’m not going anywhere.

I love you from the bottom of my heart.  You truly are the child I was meant to have, and there is NO ONE I’d rather be #beatingcowdens with, than YOU!

Happy 13th Birthday!  You will always remain, “My Most Thankful Thing!”

I love you ALWAYS,

Mom

Thanks for bringing out the best in me. I love you more than you know.
        Thanks for bringing out the best in me. I love you more than you know.

“We’re All in this Together…”

High School Musical – We’re All In This Together

“…Everyone is special in their own way
We make each other strong
We’re not the same
We’re different in a good way
Together’s where we belong
We’re all in this together
Once we know
That we are
We’re all-stars
And we see that
We’re all in this together
And it shows
When we stand
Hand in hand
Make our dreams come true…”
The news is filled with horror stories.  Local and abroad, young and old.  Lives lost through senseless acts.  Cries for unity, and division sometimes drown each other out.  From the grand scale, to stories closer to home, we seem collectively to be lacking the notion that, for lack of a better phrase, “We’re all in this together…”
As Rare Disease patients, one of the statistics that blew Meghan and I away early in the game, was the one that said 1 in 10 Americans suffers from a Rare Disease.  If all of these people got together, they would make the world’s THIRD most populated country.
  • 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population.
  • If all of the people with rare diseases lived in one country,  it would be the world’s 3rd most populous country.
  • Source https://globalgenes.org/rare-diseases-facts-statistics/

We have wondered through the years what good could come of uniting forces for the benefit of all Rare Disease Patients.  And slowly we are starting to see charities connect for the betterment of the big picture.  The PTEN foundation has teamed with a patient with Duchenne Muscular Dystrophy, to raise funds to benefit both causes, and for those that remain undiagnosed.

Please consider supporting this cause.  There is important work being done for all.

(FROM THE PTEN FOUNDATION FACEBOOK PAGE) Exciting News!!! We have a team of 12 sponsored cyclists that will support Ride4Gabe getting the word out about ‪#‎Duchenne‬ Muscular Dystrophy,‪#‎PTEN‬, and all Rare Genetic Illnesses with unmet medical needs. This is huge. You can help, please share this and our team go fund me link often. 1/2 of all proceeds will go to our PTEN Foundation. 

HTTPS://www.gofundme.com/wesupportride4gabe

THEY GET IT!  They understand, “We’re all in this together…”

I was never a huge fan on Disney’s High School Musical.  I’m not really sure I ever sat down to watch, and I likely judged without thinking.  But I’ll be the first to tell you first impressions can be flawed.  And I’ll also tell you that I ‘get it’ on a much more grand scale after last night.

For us it started with a friendship that bloomed between Meghan and one of the most compassionate young ladies I have ever met.  They’ve known each other forever, but only in recent times have they come to know each other as “friend.”  They spent time on stage together through middle school productions, and it was through this young lady we learned of a Summer Theater opportunity offered.

Meghan's "Sisters" not by birth, but through love, heart and choice.
Meghan’s “Sisters” not by birth, but through love, heart and choice.

Welcome to the

Staten Island Children’s Theatre Association

We are a self-sustaining program sponsored by the Staten Island Mental Health Society whose mission is to promote positive mental health through the arts.  We are currently celebrating our 52nd Season of bringing live theater to children and families. 

Looking for a summer change of pace, and not knowing at all what to expect, I dropped Meghan off to the Snug Harbor dance theater where these forty-five or so 9-18 year olds would spend the next 8 days generating a full “junior” production.  I walked into the back of the room for the parent meeting at the end of the first day, and I watched the children, and young adults, attentive on the floor.  This was July.  There were a lot of them.  Their respect had already been earned by the staff.  This was a “no-nonsense” set up.  We received out parent information and as we left to head home, my girl said very little about the day.  She told me she liked it though, and this was a big win.

Some of the children in the program were new, like she was.  Others had been in the program for years.  And somehow it seemed to not matter.  Ages, genders, styles, personal interests, there seemed to be very few alienating factors.  Everything seemed to be joining them together.

Each day pick up was a little smoother.  Names were a little more familiar.  Identities seemed a bit more well-established.  By the time we came home last Friday, it was hard to imagine they had only spent a bit more than 24 hours together.

HSM 2016g - Copy

HSM 2016d - Copy

HSM 2016c - Copy

HSM 2016k - Copy

HSM 2016e - Copy

10-4 for eight days they sang, they learned, they laughed and they grew.  They focused and learned that they needed to keep …

 “Just keep ya head in the game
Just keep ya head in the game

And don’t be afraid
To shoot the outside “J”
Just keep ya head in the game…”

They became a team.  They became a group of high energy youth, who each possess their own strengths.  Instead of trying to outshine each other, they learned they would shine best together.

Last night before we got into the theater I looked around.  I saw photos from the dress rehearsal, parents and children I knew from other walks of life, and family and friends there to support my girl.  I am an over-thinker.  I always will be.  It was hard not to think one week from then she’d be, God-willing, on my couch recovering from another biopsy.  But, that was not about tonight.  Tonight was about #beatingcowdens by being part of a group, by being one of “them,” and by being on that stage in a very present way.  So I cleared my head, and I watched.

Sneaking in a Proud Mommy Moment 🙂

I watched a play about finding your own identity, supporting each other, not being linked into your “label,” following your passions, learning trust, and forgiveness and so much more.

I never was a fan of “High School Musical,” until last night.  Last night I realized that there was such a timely, deeper meaning.

Truly, “We’re all in this together…”  and in the words of Ben Franklin, “We must all hang together, or most assuredly we will all hang separately…” It’s time.

HSMo

It’s time we stop seeing labels, and who we think people are.  It’s time we start learning who they really are.  It’s time to start celebrating the good.  Because there is much good to be celebrated.

On an island knee-deep in a very real drug crisis, hitting every single walk of life, I am filled with gratitude for SICTA, for giving children something to focus on, and for instilling a positive message of self-worth and deeper meaning.  I can not name all the adults who touched my girl’s life this week for fear of leaving someone out, but YOU, YOU are leading by example.  I  am full of gratitude.

Life #beatingcowdens is riddled with twists and turns.  You gave us a brief respite.

And, as the lovely young lady took Meghan from the steps of the theater and invited her to the diner “with the cast,” so many things came together.

“We’re All in This Together,”  indeed.  THANK YOU #SICTA

“1,2,3…BRAVA!”

 

This is Our Reality

Alone, in a crowded room.

alone in a crowded room

As I look around frantically trying to figure out exactly where, or how I fit, with anyone, my mind wanders.  I can’t seem to make conversation, or to pass the time socially as easily as others.  I watch.  I retreat as soon as I can.  I can’t quiet my head.  And, knowing the whole line of thinking that occupies my mind some days makes everyone uncomfortable, I step back into myself to cycle through reality.

occupied mind

“Those hormones?  Are they causing her headaches?  Or is it something more sinister?  How would I even know?  Do we need to use another MRI?  What if it is the hormones?  What choice do we have?  The doctor said she has to stay on them to stop the development of those “irregular cells” in the uterus they found in December.  They’ve already begun to schedule another D & C for July.  “You have to make sure…”  The uterus is a prime site for malignancy in Cowden’s Syndrome.  I got to keep mine until Meghan was 8.  Will she get to keep hers?  Will she have the chance to make the choice whether she wants to bear her own children?  And, even if we save the uterus and she wants to, will it be viable after 15, 18, 20 years of hormone treatment?  And at what cost to the rest of her body?  What about the breast cancer threat that looms large to a young woman whose Cowden’s Syndrome alone puts her at an 85% lifetime risk.  That coupled with a mother and grandmother who have had breast cancer… sigh…why is it even a topic of conversation when she’s 12?  It seems so unjust.  This issue shouldn’t have to be addressed now, well not ever really, but especially not now.  And when she has the headaches I have to give her something.  What about the headache medicine?  What about that esophagus we are trying to heal?

 

Is it those medicines that caused the horrendous reflux after Easter, or was it her MINOR indulgence into a few SAFE sweets?  Why should a slight indulgence cause such discomfort and vomiting?  Why does she have to be so careful all the time about everything?  No wonder she is so serious.  And what if it is the headache medicine?  What am I supposed to do to help her?  Tell her she has to deal with it?  I can’t imagine “toughing out” a blinding headache.  

 

The knee.  Oh the knee.  She tries not to complain about it, but I see when she struggles.  The AVM is finally stable, but the leg takes a lot of work to develop.  She works hard on it too.  But, the stamina isn’t there.  Hours in a pool yes, on land, no way.  Standing too long, walking the mall, or for a short walk, things we take for granted cause such pain.  And pain causes fatigue.  And on the occasions she relents and allows the wheelchair into use, she struggles.  Not for the need to use it temporarily, but for fear of insulting those who have to use it all the time.  She is proud.  She is frequently humbled.  She is conflicted.

 

And who wouldn’t be?  16 surgeries before the 13th birthday.  The need to be tough all the time, while you feel weak.  The desire to be stronger.  Having to fight, hard, for physical accomplishments.  Having to accept the ones that will never be.  Never giving up.  Pushing to be better.  To make the world better.  

 

She’s not perfect.  Never has been.  And oh, there are DAYS…  But she is good, in her heart.  She means well.  She has no spite or malice, and I can pray it remains that way.  I can pray that the children who don’t get it, one day come to understand her, just a little better.  That one day they can accept her,  for the good in her.

 

I scheduled 3 doctors appointments for the next three weeks.  Dermatology, orthopedics, and endocrinology.  The first is a screening.  Cowden’s Syndrome, melanoma risks.  Her father’s increased risk of melanoma on another unrelated genetic disorder.  Her grandmother’s melanoma this summer.  Every 6 months they told me.  Bring her every six months.  The others will work on long-term plans.  Spring break.  Every holiday, every vacation.  Every day off.  Doctors.  Not the mall, or a friend’s house.  Doctors.  For what?  And I’ve toned down the list quite a bit.

 

There are two bills of my desk.  One for her and one for me.  Both a battle.   Always a battle.  If it’s not the reality, or the appointments, it’s the bills.  And we are so fortunate to have insurance.  But, the hours.  Oh my goodness, the hours…”

 

I try to shake it off.  To stay focused on the good.  On the positive.  On the blessings, and they do abound.  But, so often it’s just me, and my head.  Working to get out of my own way.

I miss my Pop.  I miss my Grandma even though she’s still here.  I miss their goodness.  I miss my Dad.  I miss his listening ears.

I quiet the voices a little and try to follow the conversation around me.  I smile politely and nod.  I stay quiet.  “It’s good.”  “We’re good.”  That’s about all they can handle anyway.  Even the ones who genuinely do care.  Why drag someone to a place where there is absolutely nothing they can do or say?

cheshire cat

This is our reality.  This is Cowden’s Syndrome.  This is every day.  As long as we have breath, and strength, and stamina to shake off the pain, place the smile firmly where it goes and press on, we will.

Because the real reality is that every person in the room may have a similar string of thoughts in their head.  The reality remains that EVERYONE HAS SOMETHING…

been through something

I booked dinners for our Disney trip today.  I like to plan ahead.  Plus, Disney gives me a little extra strength, so that we can remain always,

#BEATINGCOWDENS!