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!

3 thoughts on “Meghan’s Rare Disease Day Video and Speech 2016

  1. STAHP. I cannot even. Every post I read makes me MORE in awe of her! She lights my fire on my hard days, which are many. THANK HER FROM ANOTHER PERSON LIVING WITH C.S. for all she is doing. I’m humbled and touched and thankful for her choosing to share her voice.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s