Richmond County Savings Foundation

If you were with us at “Jeans for Rare Genes” you heard me announce we had received a grant for $2500 from the Richmond County Savings Foundation.

This story Inspirational Staten Islander to host Fund Raiser ran on February 4th.  On February 8th I was contacted by the Richmond County Savings Foundation.  The story had been read, and it was suggested we apply for a grant on behalf of the PTEN Foundation.

We are relatively new to the fundraising thing, but with a lot of help, we got on track and completed the application.  The PTEN Foundation President, Kristen, spoke with them to get the 501c3 papers squared away.   And – about 10 days later we were notified of a $2500 grant, awarded to the PTEN Foundation!

We included the grant money in all our fundraising totals for the event, but today we got to go to the office to receive the check.  We got to meet Mr. Cesar Claro, who noticed Meghan’s story.  We got to meet Ms. DeSapio who helped us so much via phone and Email.

Meghan took the day off from school, because my speaking time is so limited, and because she’s the reason all this happens anyway.  It was just right for her to be there.

We gathered in a conference room with about 10 incredibly inspirational people.  I loved how professional, yet casual the whole experience was.  Amounts of grants were not discussed.  Checks were distributed in sealed envelopes, but first , everyone spoke about why they were there and how the grant was going to help.

Meghan spoke a little about Cowden’s Syndrome, and how we are hoping the PTEN Foundation will be able to inspire research on our disorder.  She did great, as usual.

We got to hear from a teacher, and his school’s work with Habitat for Humanity.  We heard from “Metropolitan Fire” and how the grant would help their organization.

We got to meet Dennis McKeon From Where To Turn, and hear about the work his organization does on Staten Island.

We heard about the Moravian Church garden and their donations of food.

We met E. Randolph Wheagar from 2nd Chance Youth Empowerment Program, and we were inspired by their community work as well.

We met Jennifer Dudley from Staten Island Children’s Museum and learned about their efforts to “spruce up” the museum.

We met a few other incredible folks as well, one whose organization was obtaining deeds to local neglected cemeteries so they could be maintained.  In the absence of pen and paper a few are slipping my mind, but it was a fantastic experience.  It was an intense 45 minutes!

Perhaps the one that touched our hearts most was Mr. Capolongo who spoke of his son Michael with Duchenne Muscular Dystrophy.  If you are not familiar with the genetic disorder, you can get some information here. Duchenne Muscular Dystrophy  It is a genetic disorder affecting about 1 in 3,500 boys.  The body lack dystrophin, and without it muscle cells become damaged and weaken.  It is progressive.  Michael is 11.  They have 2 other healthy children.  They are a family like ours.  Dad is a policeman, mom is a nurse and a breast cancer survivor. Yet, they have managed to create a not for profit, Michael’s Cause and have raised a million dollars to help fund research, and hopefully, ultimately a cure.

In the 30 minutes we sat across a table I felt inspired, and connected.  I respect so much the positive outlook, and the awareness that even in strife, others have it worse.  I respected the acknowledgement that every day is a gift, and life can change your perspective quickly.  These are things we identify with in this house.  Those are principles we live by.

Meghan and I often feel a little more “at home” in the presence of others with rare disease.  While they are all so drastically different, the difficulty, the fear, the unknown, the isolation, they all overlap.  And what also overlaps are your decisions in how to handle them.

I was reminded of my own girl, at the age of nine telling NY1 that. “You have a choice, you can get angry or you can DO something.”  And, “I feel like I was put here to DO something.”  Watch this clip and reminisce with me.

Today we were full of gratitude.  Today we were inspired by others.  Today we were reminded of our own mission.  Today was a continuation of an ongoing goal,  and a reminder that it matters.  It all matters.

We remain

#beatingcowdens

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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Onward…

“Onward Christian Soldiers, marching as to war, with the cross of Jesus going on before…”  That was one of Pop’s favorite hymns growing up in our Lutheran Church.  He sang it loud.  He lived it softly, but meaningfully…

It’s been a long time since I have written and I am sorry.

Writing is my therapy.  It’s free and easy.  When there is a few minutes to do it.

writing

And that, well that has been the problem these last few weeks.

I know it’s hard to imagine life getting so crazy that I wouldn’t have an hour or two a week to get my thoughts together, but it’s true.

Time to catch you all up –

On Sunday, February 21, 2016 the Second Annual “Genes for Rare Genes” fundraiser took place at the Hilton Garden Inn on Staten Island.  We had www.yeehahbob.com  Bob Jackson from Walt Disney World at the piano entertaining the masses.  We had generously donated raffles galore.  We had 178 friends and family with us, raising money and awareness for Rare Diseases.  We had Meghan, hosting, and giving her speech and showing her video.  https://beatingcowdens.com/2016/02/21/meghans-rare-disease-day-video-and-speech-2016/  We had Borough President Oddo stop by to continue to support Meghan in her desire to raise awareness and funds.  We had Charlie Balloons entertaining the children and the adults too.

My Everything

My Everything

 

Bob Jackson - Our Disney Friend

Bob Jackson – Our Disney Friend

It was a perfect day, and a month later I can tell you the total funds raised were $13,045.40 to be exact!  A large portion of that money has been sent to the PTEN Foundation and will have a significant impact on helping people like us with PTEN Mutations.  The balance of the money is soon to be on it’s way to the Global Genes Project They will always be near and dear to Meghan.  We identified first with the denim ribbon, and the logo “Hope, It’s in our Genes.”  And that is the site we learned first about Rare Diseases, and that we in fact are among the lucky ones.  These are lessons we will never forget.

Meghan addressing a crowded room

Meghan addressing a crowded room

 

Just a handful of our many raffles

Just a handful of our many raffles

Finally, I THINK, (and I apologize if we forgot anyone) all the thank you notes have been written or Emailed.  When I finally settled down to do it, there were over 80.  Meg helped, but I just flat out write faster.  Now, we rest on that a bit, while we consider what changes and what remains the same for next year.

But, life did not even pause while we planned this event.  My grandfather, my 96 year old grandfather, who was still living on the second floor of the two family home my mother grew up in, caring for my grandma, his bride of 70 years, fell on January 13th.  This set of a tirade of events of the next few weeks that brought us all through an emotional roller coaster.  My grandparents were the center of my world for much of my life, and even though I am blessed to have had them for 42 years, it is hard to imagine navigating life without them.   Pop visited two hospitals, had mutliple strokes, and ultimately ended up in the nursing home for rehabilitation.  The rehab was not meant to be, and on March 3rd he passed away peacefully, after some tumultuous days.

Pop - So much to so many

Pop – So much to so many

Grandma, now resides in that same nursing home.  Alzheimer’s has robbed her of much of her memory, but she is well cared for by kind, patient people.  She is safe.  She is calmer.  This is a good thing.  And, in one of many ironies, perhaps her disease has been a blessing.  There was no need for her to say goodbye to Pop, as he always seems to be just “across the room” when we visit.  They were never meant to be apart any way.

Always together...

Always together…

We celebrated Pop’s life at a beautiful service on March 12th.  My conscious mind, the rational one, is grateful he is at peace, and thrilled to know he is Home in Heaven.  The little girl in me, the one who adores her grandfather is sad.  Just very sad, and not looking forward to the series of “firsts” in front of us as reality sets in.

I planted the seedlings for my garden, just as my Pop showed me.  I am tending to them on the kitchen table with plenty of sunlight.  They have begun to sprout.

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And those seedlings, and signs of new life remind me of why Pop loved the garden so.  It is refreshing to see growth, new life, and new promise each day.

We celebrated Kathi’s bridal shower, as she and Jon will marry April 15th.  All things new.

Time keeps passing.

time passes

In the interim there have been regular Mommy things to do, like swim practice, and doctor’s appointments, and household stuff.  Thankfully in this house we have a very, very helpful Daddy, and we do a lot of team work.  Thanks to him, all those weeks I was out of commission cherishing every moment with Pop, he was here, keeping it all going.

Last week we went dress shopping for some of the events coming quickly.

This week it was shoe shopping.  Shopping for shoes is never as much fun, because it is hard to find a shoe that is 12 years old, and supports those feet, knees and legs.  The right knee, the site of 6 surgeries targeting that AVM, has residual damage.  The muscles are not formed as well, obvious only to Meghan when she puts on a pair of jeans.  The foot is over one full size smaller than the other, and it is skinnier too.  So, we buy two pairs of shoes to make one “pair.”  We are careful.  Frugal when we can be as it’s all x2, but focus is always on fit, style and comfort combined.  No easy task.  But, we did it.

Meghan left the store apologizing for the bill.  I told her how grateful I am that we can pay for shoes, and other things.  We had a long talk about the phrase, “I cried because I had no shoes, then I met a man who had no feet.”  It fits nicely with the perspective talks we have all the time.

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Tonight I was thrilled to find a website that will allow me to donate her “other” shoes to amputees.  She was excited too.  Something that will make us both feel better.

This week I scheduled some more appointments.  I was waiting.

Friday we head to the gyn for the 3 month follow up.  The hormones are a nightmare, but that’s for another post.  The next biopsy is supposed to be in June…

The dermatologist 6 month will be during spring break.  So will the orthopedist.

Cowden’s wasn’t gone.  Heck, it wasn’t even resting.  I was just using a big stick to hold it at bay for a few weeks.  I’m sure I left some stuff out.  It’ll come up if it was all that important.  Just know-

We are still #BEATINGCOWDENS!

Onward…

 

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…

Pause…

Sometimes we need to pause.  We pause only briefly, with hope of it lasting the whole week, and the reality that there will be interruptions along the way.  We pause, knowing that pain is ever-present, acknowledging with gratitude any breaks we are granted.  We pause knowing surgeries will always be forthcoming, but for right now they can wait.  We pause because with the pace of this life it is easy to miss the little things, the important things.  We pause to enjoy noise that is not NYC traffic, or the sound of a doctor’s office.  We pause to quiet the phone calls that need answering.  We pause so we are better prepared to battle this Cowden’s Syndrome.  We pause to remind ourselves of the beauty, within our family, and around us in the world.

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Breathtaking sunset

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Hanging around the hotel

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Friendly EPCOT duck

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Animal Kingdom Safari

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Animal Kingdom Safari

Last week we were in Walt Disney World, in Florida.  It is our favorite, actually the ONLY vacation spot we have ever had as a family.  We are fortunate to have celebrated Meghan’s birthday there for the last 8 years.  Disney is crowded, and hot, and pricey, and all the things the haters of the big Mouse want to say.  But, to the rest of us, there is a magic – a magic that endures regardless of age.  It’s hard to describe it, unless you feel it, but we do.  There is magic in avoiding doctors.  There is magic in eating safe food from restaurants, and having a bakery that even makes cookies, and cupcakes for your gluten, dairy, soy free girl.  So much of what we can’t do during the year is because of scheduling, and food.  It seems silly, but with those obstacles gone, it is a recipe for success.

Even the negativity that tries to get at us, ultimately fails – https://beatingcowdens.com/2015/08/09/theres-nothing-wrong-with-that-girl/

The trip was one of the smoothest we have ever had.  (Aside from me unpacking late the first night to realize I forgot the enzymes Meghan needs to eat!  Fortunately I ALWAYS have extra, and Mom got them overnighted so they arrived in the nick of time Saturday.  Tragedy averted.  Magical.)

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And I was only on the phone with one doctor.   Once.  The WHOLE WEEK!

I sometimes look at others vacation photos and think it would be nice, and perhaps a lot less costly, to change things up.  It might be interesting to see a few new things.  I would love to travel the country one day.  But, there will be time for all of that – later.  For now it’s about magic, and the treasure of having a preteen who still feels the magic in her heart.

Plus, we have some favorite rides…

She's more brave than me, but we DID it!

She’s more brave than me, but we DID it!

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TWICE!

TWICE!

Some Magical birthday wishes…

Her first

Her first “REAL” cake in YEARS!

https://www.erinmckennasbakery.com/orlando/

Time with

Time with “BOB” our favorite entertainer…

http://www.yehaabob.com/

And a birthday tradition…

A great view…

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Spectacular nighttime shows…

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Some Mom time...

Some Mom time…

Some Dad time...

Some Dad time…

And some time to just be 12, all by herself...

And some time to just be 12, all by herself…

There was plenty of time for me to walk.  And think about whatever I wanted, or nothing at all.  And we three started each day with our Isagenix… (fool me once – but never twice… for those of you who remember last year’s debacle!)

isablender isagenix shake

There were days I felt like I could go on forever…

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And days to just be a little silly…

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And as is the case every year when we pull away from our “home” for the week, I find my heart beating a bit faster.  My mind begins to race back on track.  And I don’t really like it.

This has been a wild summer.  One too many doctor’s appointments, too few days of simple relaxation.  And even as I am ALWAYS so conscious it could be much worse, I feel a bit of longing to do it all again, or maybe tack a few weeks on the back-end…

But, time does as it pleases, and eight days from now my girl will be recovering from another hand surgery.

We’ve begun to prepare for fall activities, and we are looking to sure up a date for our PTEN Foundation/ Global Genes Project fundraiser in February.

BEATING COWDENS takes stamina.  Fortunately, we’ve got that.

And even more – we’ve got each other.  And if we pause for no other reason, it is so we NEVER FORGET…

Between us we've got unparalleled strength, and never-ending love.

Between us we’ve got unparalleled strength, and never-ending love.

Meghan’s Rare Disease Day Video 2015

More about a successful event later.  For now, news that we’ve raised over $10,000 to share between the Global Genes Project and the PTEN Foundation is plenty while we rest.

PLEASE, spend 7 minutes on Meghan’s video.  You won’t be sorry!

Kid of Achievement!

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.

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“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 29th – the rarest day- or February 28th 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 card was created out of her need to "teach" others about Cowden's Syndrome.

This card was created out of her need to “teach” others about Cowden’s Syndrome.

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 kid is clearly a "FORCE" to be reckoned with!

This kid is clearly a “FORCE” to be reckoned with!

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.

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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.

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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

 

Competence, Compassion and Dedication? All at once!

Yesterday afternoon began very typical of so many of our days.  I left work, got Meghan at school, and instead of heading home we headed to 60th and 5th for a doctor’s appointment.

Trip to Manhattan, not a problem.  Trip IN Manhattan – super high stress.

breathe stone

Felix met us and I was able to let Meghan out of the car to endure the extra 20 minutes needed to get around the block to the parking garage I had printed a coupon for.  Silly as it may sound, that advanced planing has saved me hundreds of dollars – as our bill yesterday alone was a meager $35 for the lot as compared to the $63 it could have been.

Inside we filled out tons of paperwork, Meghan and I as new patients, and Felix in for his one year follow up.  It was the first time we’ve actually had an appointment as a family.

Last year we ended up with this doctor for Felix after a skin biopsy went bad locally.  It took weeks for me to obtain less than favorable results, news of unclear margins, and the potential wait of several weeks for a repeat excision.  I promptly transferred the biopsy slides and all information to a cancer specialty center in Manhattan and we met our doctor.  She had the slides reviewed and told Felix that not one, but BOTH sites biopsied needed further attention.  She took them to clean margins and ultimately diagnosed him with “Dysplastic Nevus Syndrome.”  He had been fortunate.  Precancerous lesions cleanly removed.  Annual screening from then until forever.

This year Felix squirmed a bit when I talked about his follow up, but I knew if we could all be connected to this doctor it would be a win all around.  Little did I know the scope of the score it would be.

Meghan, now with not only Cowden’s to raise her skin cancer risk, but also the genetic “dysplastic nevus syndrome”  potentially inherited from her father, needed a dermatologist in place for annual screenings – ASAP.  And for me, well, it was something I had been doing, but not with someone too good.  Time to ratchet it up a notch.

The doctor was amazing.

She immediately made Meghan feel comfortable and valuable, and spoke with her at length about the presentation of Cowden’s Syndrome she had experienced.  My daughter is incredibly empowered about her own health and held a 10 minute conversation quite nicely.  While I filled in a few gaps, the doctor told us she had worked previously at the NIH, (National Institute of Health,) and the NCI (National Cancer Institute) and was therefore, aware of Cowden’s Syndrome.  That alone is a rarity in our world.

But she took it much farther than that.  She wanted to know about the disease presentation in me as well.  She wanted to know how much had gone on before and after diagnosis, and how difficult of a path we had traveled to try and find knowledgeable doctors.  She was in constant thought, wondering about what she could do.  She spoke almost immediately about training her peers to be the front lines in screening for Cowden’s Syndrome, and how if they could identify classic marks like the trichilemmoma she removed from my forearm, they might be able to raise flags early and help save lives.

Harmless enough, common in Cowden's Syndrome, she wanted one confirmed though biopsy.

Harmless enough, common in Cowden’s Syndrome, she wanted one confirmed though biopsy.

Healing... less than 24 hours later.

Healing… less than 24 hours later.

She wanted to know what we had in terms of screening, and records.  What could I send her?  CDs?  Images?  PDF?  How fast?  She could have my CT scan reread for no fee.  Just send everything.  (Of course everything is in about 6 inches of binders.  So there is sorting and scanning to be done.

What is this http://www.PTENfoundation.org ? She wanted to know.  Can she refer people there?  What if she publishes in a dermatology journal?  Could she list the foundation?

My head was literally spinning – but in a good way for once.

I am going to present on you she said, both of you.  But no one has to know its you.

And finally a doctor who ALSO feels this way!

And finally a doctor who ALSO feels this way!

“Can I come?” asks my curious 11 year old.

“Of course…”

And as she took such a liking to Meghan she asked me who was managing her care.  When I said, “me.”  She was visibly bothered for me.

Someone should be looking after her.  Let’s think about what she needs.  And with that she rattled off doctors to handle things I couldn’t get my local doctors to address with a ten foot pole.   She told me I’d hear from her this week, and from some other doctors too.

I left with three negative exams, 6 months for me and Meghan, and a year for Felix.  I left with my belly hungry and my head racing.

Was I dreaming?  Had I really finally found the doctor to help us?

No one should have to travel your path alone, she said.  You need help navigating.

From her lips to God’s ears.  May she be true to her word.

In the mean time I have quite the homework assignment.

So as I sit with my “eventbrite” window open, excitedly hearing the “dings” of attention out February Fundraiser is generating – I am going to get started on perhaps the most important homework of our live

Champions of HOPE

It’s no secret that we have been followers of “The Global Genes Project” since our diagnosis in 2011.  Meghan fell in love immediately with the denim ribbon, and their slogan, “HOPE it’s in our Genes!”  That play on words stuck with her, and the ribbon gave her a good deal of connection at a time when we weren’t sure if we’d ever connect with another soul with “Cowden’s Syndrome.”  The connection with the RARE Community at large carried us through those earliest days.

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The end of 2011 and well, 2012, and… well, you get the idea… held some tumultuous times for our family.

Adjusting to the diagnosis was not easy.  Finding balance within the labels, and the risks, and the screenings, and the surgeries, and the appointments was (and sometimes still is) a struggle.  In the months when the diagnosis was at its newest, Meghan’s thyroid was called into question several times.  We discovered nodules we never knew were there and learned the early risks of thyroid cancer were real, and ever-present.

She soon underwent the most horrendous of what would be 4 thyroid biopsies over the next 2 years.  Scarred physically and emotionally, we began to wonder about this beast we were up against.

In February of 2012 Meghan had her 4th knee surgery for an AVM (arteriovenous malformation) in her right knee.  Now convinced it’s stubborness could be credited to Cowden’s Syndrome, the fight to control it’s growth took on a whole new meaning, and we were referred for consultation to Boston Children’s Hospital.

While we balanced the screenings for Meghan, I was sent to my own set of initial screenings.  Being 38 and newly diagnosed, I was in the battle full on, and I had had no idea.  All the imminent cancer risks associated with Cowden’s Syndrome – except for the thyroid which often comes earlier – seem to peak right around 40.  No stranger to doctors, I was trying to figure out how the diagnosis helped explain the roadmap that was my own medical history.

In March of 2012, I underwent what was to be a “prophylactic bilateral mastectomy,” to battle the 85% breast cancer risk I had with the PTEN mutation that caused Cowden’s Syndrome, and my own medical history which had already seen 7 increasingly suspicious breast biopsies.  Seven days later, while having my drains removed, my husband and daughter sat in the room as the doctor announce it was a “good thing we moved when we did.”  My left breast, the one that had never seen a scalpel, had 1 centimeter of DCIS, close to the nipple and clear of the chest wall.  I had breast cancer.  They found it by accident.  My aggressive, intelligent surgeon, who I met because of my diagnosis, and really BECAUSE of my daughter had saved my life.  I needed no treatment.

faith_hope_breast_cancer_puzzle

I left the room that day holding the two people I love more than anything.  Unaware of the plans clearly in place for us, I was so filled with gratitude, and so in awe of the reality that if I had never had Meghan, I would have likely never known.  And the surgeon’s words, “If we had waited till July like you had wanted, you would have been in a fight for your life,” still ring in my ears.  Sometimes you have to stop the “what ifs?” and just say “thank you.”

Ten weeks later I was back in the hospital for a complete hysterectomy.  A suspicious uterine polyp, enlarged ovaries, and Cowden’s Syndrome combined again for too great of a risk, and the recommendation was for surgery and quickly.

happy hysterecomy

The shock on my body, the trauma to my family at this point was intense.

I had begun to scour the internet looking for places to go.  I found http://www.PTENworld.com and its dynamic young moderator, a Cowden’s patient for many years.  I found Facebook, and a beautiful support network there.  I found a yahoo group, and a mom there who has consistently gone above and beyond for me, simply out of goodness. Finally, there were real people I could talk to.

One day that Spring I received a Pandora necklace with a pink ribbons on it.  After years of advocating for my mother, a bilateral breast cancer survivor, holding the pink ribbons that belonged to me felt strange.  Yet, so did the new boobs, smaller, but perkier than the old ones, and all the clothes I was learning no longer would fit quite right.  So, I took comfort in that necklace and I wore it a lot.

pink ribbon pandora

And one day my very obsevant girl, who was 8 at the time, a few months shy of 9, asked me “What stands for me?  The gold ribbon is for childhood cancer, the pink ribbon is for breast cancer, the puzzle piece is for autism.  What about me?  What about people like me who are dealing with this (Rare disease) every day?  I NEED something mom.  Not to have a thing, but for my identity.”

Stunned, as usual.  I realized I had begun to heal myself, to seek comfort for myself, but I was leaving her behind.

So I happened to be retelling the story at lunch.  And my teacher friend, whose husband is a jeweler, and who has a son with autism, really “got it” on so many levels.  She told me she’d talk to her husband and see what was around.  So I gave her a denim ribbon sticker from the Global Genes Project, and they were on a hunt.  Which turned up nothing.  There seemed to be no piece of jewelry worldwide to symbolize those with Rare Genetic Disorders.  And, with there being over 7,000 RARE dieseases, accounting for almost 10% of the population, to us this was silly.

So my friend’s husband offered to make one.  For Meghan.  Because if she wanted a piece for her “identity” she should have one.  So he did.  It took months.  And it was perfect.  Absolutely perfect.  And he was so generous in the donation of his time, all to light up my girl’s world.

 

August 2012

August 2012

 

Typical Meghan, no less that 5 minutes after she put it on, she started with, “Wouldn’t it be great Mom, if these were available all over the world, and then we could see them when we went places, and we would know the people who have, or love people with RARE diseases?’  And the conversation continued to include asking me to reach out to The Global Genes Project to try and make it a reality.

Well two years have gone by.  Felix and I each wear one too.  Only 3 ever made.  Until recently.

There have been lots of EMails exchanged.  Lots of conversations.  Lots of people.  Ultimately they did decide to have the necklace made, and while the decision thrilled me, I would be lying if I said that I wasn’t disappointed that they couldn’t use our friend, the jeweler.  But, business decisions are what they are, and this one was not in my control.  And, despite that disappointment, Meghan’s dream, her vision, is becoming reality.  We received 2 samples this week, and a “THANK YOU” from the team at Global Genes!  The necklaces will be on sale through http://www.globalgenes.org in the fall!

denim ribbon necklace 1

denim ribbon necklace 2

Two years have gone by.

I have developed deeper, closer “long distance” relationships with some “kindred spirits” in the Cowden’s Community – globally!

My girl has some of her own friends with Cowden’s now, spread across the world.  She will be 11 soon, and is quite the young lady.  She understands life on levels deeper than she should.  Most impressively she understands that despite our struggles, there are many in the world who struggle in heart, mind, body, and soul.  She knows that “Everyone has SOMETHING!”

This past year she organized an assembly at our school.  She worked with Student Council to arrange an evening fund raiser.  She partnered with a friend in her own class who has a RARE Disease.  We sold T-Shirts.  We received intense support from faculty, and parents and students.  Every child got a denim ribbon to wear for RARE Disease Day.  We sent thousands of dollars to The Global Genes Project.

She has already begun to plan for next year, and wants a much bigger fund raiser.  “At a place Mom.”  We can really get the word out and raise money.  For The Global Genes Project http://globalgenes.org/, and for the newly founded PTEN Hamartoma Tumor Syndrome Foundation http://www.ptenfoundation.org/, another organization close to our hearts.

She has a mind that never stops.  She has the heart and voice of an advocate.  And this year, she was nominated for the TEEN Advocacy Award at The Global Genes Project.  (If you scroll down, the teens are close to the bottom.)

http://globalgenes.org/2014-rare-champions-of-hope-nominees/

Meghan 2014 Nominee

Meghan 2014 Nominee

Champions of HOPE indeed.  So proud of her.  So proud to see her name with all the others who have decided to “Do Something.”

 

“HOPE it’s in our Genes!”

We are BEATINGCOWDENS!