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!

Inspiration

inspire

Mother.  Father.  Daughter. Son. Spouse. Sister.  Brother.  Grandparent.  Aunt.  Uncle.  Niece. Nephew. Friend.

If we are lucky, we connect the word “Inspiration” with one or more of them in our lives.

It’s been a really long month. And on the surface we have been preparing for the Second  Annual “Jeans for Rare Genes” Fundraiser at the Hilton this Sunday, February 21st. ( TICKETS FOR THE FUNDRAISER – HERE )

JFRGflyer7

My husband has been wrapping baskets.  My daughter has been soliciting donations, and publicizing the event.  She was invited to speak at a Young Republicans Meeting, a Junior Giving Circle Meeting at IS75, and she was invited to speak to PS30 in Westerleigh.  Tonight she is thrilled to be speaking at the Staten Island Giving Circle Meeting.  Staten Island Giving Circle

I have been trying to stay on top of vendors, and seating, and tickets.  But I have been distracted.  We have all been distracted.

IMG_5789

Those two, in the center, my grandparents, are at the center of this family.  They are the inspiration.  It is their ripple effect that allows all of us to do what we can to make the world better.  They are married 70 years.  She is 95.  He is 96.  And until just over a month ago he lovingly cared for her with the limited assistance of my mom and a 4 hour a day aide.  He cooked, cleaned, shopped, did the laundry, paid the bills.  And endured a great deal, out of love.  Pure love.

My grandfather spent 4 years in service to our country during World War II.  He married my Grandma a few weeks after returning in December of 1945.  He became a member of the FDNY for 23 years.  They raised two children.  They acted as second parents for many years to my older sister and myself.  We watched Pop, a man of faith, not talk the talk, but also ‘walk the walk.’

I learned the meaning of inspiration through his humble humility.  I learned love by watching him kiss Grandma every time he left the house.  I learned generosity by watching him give of himself, unceasing, to neighbors, friends, and especially family.  He inspires my life, and daily inspires me to be a better person.

His health is failing.  In one month the transformation is utterly disturbing.  And yet, he managed the strength to mouth the words to “Jesus Loves Me” and the Lord’s Prayer on Sunday as my brother-in-law gave us communion.  I’ve been distracted by one of my inspirations.

inspiration 2

His stubbornness, one of his best, and most challenging qualities, is one I passed on to my daughter.

Most of you know her story well.  For those who don’t I’ll give you the shortest version I can.

She was born in distress, spent 4 days as the biggest, fiestiest baby in the NICU before heading home.  There was a year or more of colicky sleepless nights, which melded together with hospital visits, the first of many surgeries to come, developmental delays, early intervention, and so on.  By the time she was three I had CPSE telling me she’d never sit in a normal PreK or a regular school.  We read, and researched, and peeled away layers in ways that were sometimes conventional and sometimes alternative.  We found a combination of strategies that left my girl in an honors program early in her academic career.

The surgeries kept coming.  The doctors appointments were relentless.  The Physical Therapist Dr. Jill who loved her so much, pushed me to genetic testing.  There the diagnosis of PTEN mutation, or Cowden’s Syndrome changed things forever.

Now there was a name.  Now there was a reason.  But now there was so much more to be worried about.  Now people scurried and scampered about and whispered and doctors “googled” while we were in the room.  Now her diagnosis prompted MY diagnosis, as Cowden’s is inherited.  And so much of my own medical history made sense.

Four years ago I was pushed to undergo a bilateral mastectomy.  It was supposed to be prophylactic based on the insane breast cancer risks for Cowden’s Syndrome patients.  And then on pathology there was the breast cancer diagnosis, and the realization that my daughter saved my life.  Humbled.

life what happens and how you react

The surgeries persist.  And get more complicated as the years go on.  Life gets more complicated when you are 12 and in Junior High.  Kids don’t really get this life.  And well, they shouldn’t.  But it gets lonely.

Sometimes she gets angry.  Mostly she tolerates the loneliness.  Mostly she channels her energy.  She dreams of cures.  She knows cures take money.  So she spearheads fundraisers.  She talks even when no one listens.  She is grateful for her Cowden’s in the midst of the rare diseases we have seen.

She gave up soccer, and running, and dance.  She hurts after normal kid play.  She gets frustrated.  Then she swims.  Not to be put off, she found the place she can compete.  And she pushes herself to be better every day.

She does well in school.  Although it’s not always politically correct to talk about it.  I’m her Mom, so I can say it.

She gets up every day.  She smiles.  She reaches.  She inspires.  Me, and countless others.  I am one of the lucky ones who has been inspired by many – right in my own family.

apirations-dreams-scare-you

 

So, a few weeks ago when the local paper asked for an inspirational Staten Islander, she was my natural choice.  And I wrote, honestly, and without a second thought.

When the paper came out asking for us to vote I read every bio.  And I was inspired.  By all of them.  Then Meghan read them.  She was so touched I had written about her, she told me she’s be proud to lose to any of them.

There was a Facebook post this morning by the daughter of another nominee.  Her Dad sounds like a stellar man.  He offered to do anything for Meghan.  He is kind and generous of heart.  The daughter is lucky, as I am lucky.  We have inspiration right in our own families.

Maybe we can all meet at the fundraiser Sunday!

TICKETS FOR SUNDAY 2/21 HERE!

You can read all about all of them and vote below.

Somehow, I think they’ve all won.

READ AND VOTE FOR INSPIRATIONAL STATEN ISLANDER!