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

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

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

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

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

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

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

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

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

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

She delivered this speech with incredible poise.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Here is a video of her speech.

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

One after another people approached her, and complimented her.

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

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

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

Kid of Achievement indeed.

World, you haven’t seen anything yet!

Here’s the link to our local paper….

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

 

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

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