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!

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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.

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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.

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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.

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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.

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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.

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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

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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.

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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!

 

Meghan’s Rare Disease Day Video and Speech 2016

This is the text of the speech Meghan delivered at this year’s “Jean’s for Rare Genes 2” Fundraiser.  Regardless of the monetary totals, which will come in the next days to weeks, I can assure you it was a success.

I want to start by thanking you for attending this fundraiser here today.  This is the second “Jeans for Rare Genes, a tradition I hope continues to grow each year.

I knew nothing at all about Rare Diseases until the fall of 2011.  I was in 3rd grade.  I went to a geneticist because I was having all sorts of medical trouble.  He diagnosed me with Cowden’s Syndrome.  A few weeks later he diagnosed my mom with the same thing.

Cowden’s Syndrome is a mutation (a break or a mistake) on the PTEN gene which is a gene that is supposed to keep the body from making tumors.  Basically, when you have Cowden’s Syndrome, which is pretty rare (only 1 in 200,000 people) your body makes tumors.  Sometimes they are benign, and sometimes they are cancer.  It also causes my body to make vascular malformations, like the one in my right knee, that has caused me 6 surgeries all by itself.  That is why with Cowden’s Syndrome we have to be watched all the time.  There are so many doctors, so many things that need to be checked, and scanned and looked at, it can be really overwhelming.

You can’t catch Cowden’s Syndrome, it has to be inherited, like I got it from my Mom.  You also can’t get rid of it.  Once you have it, the only thing you can do is get checked, a lot.

I have had 16 surgeries so far, and I only turned 12 in August.  That doesn’t even count for the doctor’s appointments, Emergency Room visits, scans, and never-ending blood tests.

When I first learned I had Cowden’s Syndrome, I went to a website called the Global Genes Project to learn of facts about rare diseases.  I learned all sorts of interesting, and sometimes upsetting facts.

  • There are approximately7,000 different types of rare diseases and disorders, with more being discovered each day
  • 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the S. population
  • 80% of rare diseases are genetic in origin
  • Approximately 50% of the people affected by rare diseases are children
  • 30% of children with rare disease will not live to see their 5th birthday
  • 95% of rare diseases have not one single FDA approved drug treatment
  • Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease

I started out feeling like I didn’t fit in anywhere.  I couldn’t understand why all these diseases existed and no one seemed to know or care.  I found the “Global Genes Project” motto, “Hope it’s in our Genes” to be a comforting play on words.  I identified myself with the denim ribbon, a powerful symbol of Rare Genetic Disorders.  My Mom’s friend made me a denim ribbon necklace, and I felt like I had an identity piece, something that represented me.

At first I organized an assembly at my school, and in 4th grade we gave out denim ribbons to raise awareness.  In 5th grade we had a fundraiser. We sold some T-shirts, and had a small event at the school.  The money went to the Global Genes Project.

Last year, a charity was created called the PTEN Foundation.  It is the first charity that looks to help people with our specific disease.  They want to create a patient database, so people with our Syndrome can be studied and learned about.  Then, maybe there will be a way to help us. 

As happy as I was about the PTEN Foundation, by this time, I had learned about a lot of other Rare Diseases, and kids, who didn’t have a chance to live and do as much as I can.  I promised myself I would always remember those kids when I did any fundraisers.

Last February, “Jeans for Rare Genes” happened at the Hilton Garden Inn.  I wasn’t sure I could pull off anything that big, but with a vote of confidence from Borough President Oddo, and my Mom supporting my vision, it happened.  150 people showed up, and we raised over $12,000.  True to my word, half of the money went to the Global Genes Project, and the other half went to the PTEN Foundation.

This year, I invited Bob Jackson, my favorite entertainer from Walt Disney World, to come and play piano at “Jeans for Rare Genes 2.”  He is here with us today and I am so excited!  We also have “Charlie Balloons,” back to help us again, and lots of great raffles from generous donors.  This year, I think and hope we can raise a lot of money to send to the PTEN Foundation and the Global Genes Project. 

One of the hardest parts of having a Rare Disease is one I don’t like to talk about too much.  Middle school is tough enough, but when you spend more time at the doctor than at social gatherings, it gets tougher to fit in.  I am glad that with Cowden’s Syndrome I don’t “look” sick, except it makes it even harder for people to understand why my life is so different.

I’ve gained an appreciation for the reality that “everyone has something,” and I work hard at not judging others, because everyone is fighting their own battle.  I want to make more people aware that this is the case, and that is why raising awareness for Rare Diseases is so important to me.

The pressure of life, the surgeries, the hospitals, the worrying, the waiting, and the wondering, has done a lot to make me who I am.  I don’t wish for anyone else to really understand this pressure, but I sometimes wish more people would understand me.

I have met a handful of people along the way, some in the most unlikely places.  These people have provided me support through the pressure, and I am forever grateful.

I know I still have a lot of time to grow into the person I am supposed to be.  I love swimming, and drama and singing.  I do well in school, and I love being with my friends.  I love helping others.  I will continue to search out my “Corner of the Sky.”

As you watch the video I have prepared for you, you will see that despite the pressure of life, I will not ever be defined by my disease.  I am determined to focus on a brighter future, and to channel my energy into making a real difference in this world.

I look forward to seeing what the future hold, and how the next chapter in my life turns out.  I hope to see you at our event next year!

When you’re through reading take the time to appreciate her video, created by herself!

“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…