Rare Lives, Rare Disease Day, and So Much More to Come

Thursday, February 28th, 2019 is World Rare Disease Day.

There was a point close to forever ago when that meant nothing to me.  I had never even heard of it.

Our initial Cowden’s Syndrome diagnoses came in the fall of 2011.  Meghan got her’s first, and mine followed soon after.  2012 held the most insane whirlwind of medical and surgical experiences we have ever known.

By the time Rare Disease Day came around in 2013, we had begun to feel the need to raise awareness of our PTEN Mutation causing Cowden’s Syndrome.  Even though we were grateful to have each other, to be 1 in 200,000 can be isolating.

At the time my girl took to the Global Genes Project and learned all she could about rare diseases.  She was most struck by the reality that many children diagnosed with rare diseases don’t live to see their 5th birthday.  She promised she would always try to speak, not only for herself, but also for the “littles” who couldn’t tell their story.

Meghan’s Speech in 4th Grade…

The text of her speech – Meghan Speaks Out!

In 2013 she spoke at her school and at mine.  We handed out denim ribbons, and started opening eyes.

In 2014 we stood together, as she was a student at my elementary school.  She created a video, we did a fundraiser.  There was something empowering about sharing knowledge.

February 2013 Article

In 2014 she met Borough President Oddo and they are still in contact.  He has been a mentor for her through the years.

RDD Blog Through Meghan’s Eyes 2014

Rare Diseases as a whole are common.  One in ten people suffers with a rare disease.  Yet, there are over 7,000 rare diseases and each carries with it it’s own specific challenges.  More than 350 MILLION people suffer from a rare disease, yet it takes 8 years on average for a diagnosis.  https://globalgenes.org/rare-facts/ In the interim, so many people trudge through the day to day challenges alone.  Typically there is no one to relate to their experiences, and even the best intended friends and relatives often tire of the chronic nature of a disease that won’t ever leave.

Raising awareness became a mission of Meghan’s to help people become more compassionate and kinder towards each other.  We have always worked with the understanding that “everyone has something,” and the more we learn empathy and compassion, the further we will get.

Meghan’s early days of speaking in schools, and creating awareness videos evolved into “Jeans for Rare Genes” a fundraiser involving friends, family, and the community.  There have been 4 so far, each one different than the ones before, but all helping to raise funds and awareness for rare diseases.

In December 2013 the PTEN Hamartoma Tumor Syndrome Foundation was born, through the blood, sweat and tears of Kristin Anthony, and with a village, it is growing into a helpful, guiding light in our community.  And, finally Meghan has found the focal point for the fundraising!

(check out some of the links below for some of our journeys)

RDD Meghan’s Video 2015

Twelve Surgeries in Eleven Years Article 2015

RDD Meghan’s Speech and Video 2016

Understanding Cowden’s Syndrome Article

Through the years my girl has been honored as a New York State Woman of Distinction, the youngest ever, in 2016.

She was awarded the “Humanitarian Award” at the Teddy Atlas Dinner in November of 2018.  She has racked up close to 20 surgeries in her young life, and yet she has managed to remain a scholar and an athlete.

Lives now forever intertwined. Kristin Anthony celebrates Meghan’s honor with us.

Celebrating Rare Disease Day is sometimes like going to the worst party ever.  Or, maybe it’s the best.  I guess it depends on how you look at it.  We’re here… stronger.  The community is growing.  Support exists.  Hope exists.

Last summer we were contacted by Aldo Soligno on behalf of the “Rare Lives Project.”  He had worked on this project in Europe and had had much success raising awareness to the government about the lives of people with rare diseases.  We were touched to be asked to be part of his American pilot of this project.  And, while it has not received the funding he had hoped, the release of this summer’s photos on social media has been therapeutic for both of us.

Here are some of the picture released to date.  Photo credit Aldo Soligno.

Please follow “Rare Lives” on Facebook, Instagram, and Twitter to help them raise awareness of all rare diseases.

Please follow the PTEN Foundation

on Facebook, Instagram and Twitter.  Follow their community work, their fundraising, and their efforts to unify with PATIENT FIRST.

This neat initiative is taking place right now, among others!

https://www.facebook.com/ptenrocks/?sfnsw=cl

We are perched in exciting times.  It is a time to reflect, to gather strength and resolve and press forward.

This year I know more people with Cowden’s Syndrome, and more people with other rare diseases.  We are allies and advocates.  We are parents, sisters, brothers and friends.

This year I hold close in my heart a friend’s little one, waiting on her diagnosis.  My heart feels their anguish.  My faith tells me their help will come.

There are still struggles.  Plenty.  But, before telling those stories it was time to remember from where we came.

One thing will not, and has not changed.  We remain forever

#beatingcowdens

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