Rare, Invisible, Real – Jeans for Rare Genes 3

We were worried.  Attendance was at an all-time low.  We had picked a bad weekend, but it was too late to change it.

We took the event off “eventbrite” this year, looking to take the fees they collect and get them to the PTEN Foundation.

It took a whole lot of record keeping, but it was worth it.

We had an “Early Bird Special” and free T-shirts.  We opted for a new venue, a deluxe buffet brunch, and beer, wine and sangria for the grown ups.

After months of planning, of soliciting donations, of advertising, Emailing, and distributing flyers, we had exhausted every avenue we knew.

We received so many generous donations that were accompanied by, “I wish I could, but..”

We received so many well-wishes and positive thoughts from genuine people.

But, in the end we were looking at attendance numbers far lower than last year.

We had excellent baskets – Some were gathered by friends and family. Others were given as donations, and many were put together by my loving husband.

Meghan and I wrote out and carefully planned what we wanted to say.

She opted this year to stray from her pattern of creating videos, and she created a Power Point of the year in review instead.

But, as late as that morning the text and phone calls kept coming from people who could not make it.

We walked into the room anxious.  Not sure of how the day would go.

We should not have worried.

What this crowd may have lacked in volume they more than made up for in LOVE, SUPPORT, GENEROSITY, and COMPASSION.

They were from all areas of our lives.  There were family.  There were lots of cousins.  There were friends.  There were colleagues.  There was Meghan’s Physical Therapist, her math teacher, and her former paraprofessional.  There were friends of friends.  There was Charlie Balloons, and a DJ whose services had been paid by some dear friends as a donation.

There were 42 raffle baskets, and a 50/50.  The money generated just from those two things was mind-blowing.

There were 2 schools, PS1 with cousin Kim, and Holy Rosary with our friend Christal, that each raised over $400 at their schools for the cause.

We laughed.  We drank.  We ate.  We talked.  Kids danced with balloon creations.  There were musical chairs and fun.  There was pure love in the room.

When Meghan and I spoke there was silence.  Attention.  Focus.

Cowden’s Syndrome is understood by this crowd, because of us.

And there stood my daughter, telling this crowd of 100+ that she was tired of “Living with Cowden’s Syndrome.”  She “put Cowden’s Syndrome on notice.”  She told it, it was time to “keep up with her.”  She’s got things to do.  Places to go.  People to see.  She’s growing up right before my eyes.

Not long ago she was a scared and confused 8 year old.  Now she is a wise, and mature beyond her years, 13-year-old young woman.  She wants the PTEN Foundation to flourish.  She wants research, a patient database, and even a cure.  She’s 13.  There is time to get it right for her, and all the young ones being diagnosed after her.  She has drive and ambition.

She chose a song to end her speech.  She chose “Let it Go” from Frozen.  She toyed around with a few songs, but this is the one that spoke to her, at this moment.  This one got to her heart.  And you could tell, as she belted it out acapella.


In the end, as people with full bellies, and big smiles, hugged us goodbye, they spoke of “next year.”  They said this one was “the best yet.” We felt loved and full of gratitude.

And as we sorted through the finances, we were struck with something amazing.  Jeans for Rare Genes 3 would be making a cumulative donation of just over $12,000 to the PTEN Foundation.  This love, this event, these people, the generosity of so many, had generated an amazing amount.

Our hearts are full of gratitude.

A donation of over $12,000 to the PTEN Foundation.  Because of you.

Thank you for valuing a cause that matters so much to my family.  Thank you for loving us.  Thank you for supporting us from near and far.  Thank you for your never-ending generosity.  Thank you for your prayers and good wishes.

Because of you we remain #beatingcowdens!

Thank you!

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A REAL Love Story

love

I’m not one for Valentine’s Day.  Never was.  It didn’t matter to me if I was dating or single, it just never made sense.  The “Hallmark Holiday” seemed determined to bleed money out of people who shouldn’t have to work so hard to prove themselves one day a year.

If you love someone, prove it every day.  It’s not about the big things.  It’s about the things that matter.

Picking up someone else’s mess, doing someone’s laundry, a random hug, an “I love you” that’s real and spontaneous, treating each other respectfully all the time… and so on…

My husband and I decided years ago to exchange only cards on Valentine’s Day.  I already know how much he loves me.  We do what we can to get a little something for our girl, well, just because.  And we, we try to get organized and celebrate our anniversary.  The day we stood before God and our families and friends and pledged our “for better or for worse,” and “in sickness and in health.”  Because those vows – they matter so much.

Tomorrow I will head to Manhattan for three of my annual appointments, carefully timed to cost me exactly one day off of work.  I will see the oncologist, the breast surgeon, and the endocrine surgeon, with some blood work thrown in for good measure, and the results of a sonogram from Saturday checking on that bumpy spleen of mine.

I will return in time to have parent conferences at my daughter’s school.

Not a “romantic” day by any means.

I will wear a red shirt that says “Strong” and I will make it work with a smile.

Because, I will be thinking of this heart.

img_6210Last year in January, my Grandfather fell.  It was after a trip to the grocery store.  We later found there was stroke activity, and that January day began a slippery slope that ended with his passing on March 3rd.  If you know me personally at all, you know my grandparents were larger than life to me.  That’s it.  They were 70 years married, and even though Alzheimer’s had largely robbed Grandma of much of her memory, my Pop loved her with his whole heart.

Last year, coincidentally, my grandparents spent Valentine’s Day in the nursing home at the same time.  And, although I’m not totally sure either was aware of the date at the time, we were.

A few days after Pop passed, my uncle sent the picture above.  He was cleaning out the linen closet and tucked in between some things was this heart.  By every rational account it must have been purchased by Pop, for his love, on that day in January when he made his last shopping trip alone.

My Pop was a man that planned ahead.  He was a man who always thought of his wife, and lived every day loving her with his whole heart. And my Grandma, well, she’s pretty special herself, and she’s always been quite fond of chocolate.

Nothing flashy, nothing fancy.  But he saw the hearts early, and thought of her.  That’s how he rolled.  Always kissing her hello and goodbye, clipping roses from their rosebush, and doing what he could, even when there was nothing more he could do.

My newsfeed, and my heart have been full lately, of people struggling and suffering.  The prayer list is long.  There is pain and sadness and worry.  But within, there is also love, and gratitude and compassion.

Life is about balance.

I’d rather spread out the love to last all year.  I’ve got plenty to share.

For it is with love alone that we hold each other up.

Love for those around us, and those who’ve gone before, motivates us.

Grandma is still “here” but many of you understand when I say I miss my grandparents.  The love though, the love and the example they set is imprinted forever in my soul.

It is with Love and Gratitude that we find the strength to remain

#beatingcowdens!

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Rare Disease Day- Video Recap

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

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

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

And then there was this…

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

Together we remain

#beatingcowdens

Enjoy!