This year World Rare Disease Day is Saturday February 29, 2020.
As we prepare to do what we can to raise awareness of Rare Diseases… I’m reblogging this post with some videos Meghan created as a younger person with Cowden’s.
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.
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…
The story of how a New York City girl got the ear of a West Virginia Congressman is a long windy one that involves the depth of love and dedication the United States Marines hold for their own. That loyalty and brotherhood extends through generations in ways that would be difficult to explain in words.
That, will be the story for another day.
For today, what you need to know is one of those Marines, who I hold very dear, heard me when I spoke. He listened when I told him how my father apologized upon learning Meghan and I had been diagnosed with the PTEN mutation that causes Cowden’s Syndrome.
Once Dad understood the PTEN mutation, he became very sure that he “brought this back from Vietnam.” Dad was certain that his exposure to Agent Orange in the jungles of Vietnam had changed his body. He was also sure that the toxin was responsible for what my genetecist deemed a germline (inherited) mutation in Meghan and I.
We know for sure that Meghan got her mutation from me. What we don’t know with certainty is where mine came from. My mother and younger (half) sister on my mother’s side tested negative for PTEN. My father was never tested. Before I could ask, he passed away from Pancreatic Cancer in December 2013. However, we do know my mutation was not “de novo,” or spontaneous. We know it was germline, “most likely passed through the sperm of your father,” my genetecist explained.
So, all we had to go on were Dad’s instincts, which I knew were in no way going to ever prove causative to the US Government.
But I reached out, and I acquired anecdotal evidence from my online support groups where 4 people other than myself indicated a first degree relative with a similar toxic exposure. In a disorder as rare as Cowden’s Syndrome (1 in 200,000) with group sizes in the low 100s in most cases, these were numbers worth noticing.
Sometimes a theory is all you need. And when you eliminate the need to “prove” and you focus on the need to “educate” and “raise awareness,” sometimes you can make progress.
Today, the story is about how Congressman David McKinley (West Virginia) and his staff listened when we spoke about Cowden’s Syndrome. And they did something.
I was put into contact with Lou Hrkman, the Executive Assistant to Congressman David B. McKinley, P.E. (WV-01). (412 Cannon Building Washington, DC 20515 (202) 225-4172) through that Marine I mentioned earlier. Alan doesn’t give up.
I shared an explanation with Mr. Hrkman, of Cowden’s Syndrome, and more specifically PTEN Mutations. I told him about the impact on our lives. I told him about my father’s instincts. I talked to him about how, with a syndrome like this, KNOWING SAVES LIVES. We spoke about veterans and toxic exposure. We spoke about the thought that exposure could alter genetics. We talked about RARE DISEASES, and more specifically, RARE GENETIC DISEASES. We spoke about how if the doctors at the VA were trained to look for these disorders, or to be more aware, or to educate veterans, or to look for these disorders in descendents of veterans, that it is likely LIVES WILL BE SAVED.
This week I was contacted by Mr. Hrkman, on behalf of Congressman McKinley, to draw my attention to the last paragraph on page 47 of the…
It says…
And there it was. In print. For the VA Hospital System to be held accountable for education.
It is not passed yet. The specifics of the bill need to be debated in Congress, but he is confident.
We who are so anxious to be heard, to be noticed, to be recognized, this is a huge first step. And while I realize many of you are not relatives of Veterans, I feel it is SO important that we take this opportunity to raise awareness NOW!
I asked Mr. Hrkman what people can do.
Here was his reply…
It sounds quaint, but writing or meeting with your congressman is the best thing you can do. Members take notice when their constituents are interested, especially on a personal basis versus a mass mailing or robo call thing. If you write your member, specifically reference the document I sent you (Military Construction, Veteran’s Affairs, and Related Agencies Appropriations Bill, 2017) and the page number. (Page 47) I would also contact Vietnam Veterans and other Vet groups, but Vietnam Vets are especially affected.
PLEASE, right now, my American Friends, contact your representative in Congress. Let’s make them HEAR US. ALL OF US. This could be the start…
PLEASE, share this post far and wide. Tag anyone who you think might help.
It’s time for us to DO SOMETHING…
“Do Something” by Matthew West
I woke up this morning
Saw a world full of trouble now
Thought, how’d we ever get so far down
How’s it ever gonna turn around
So I turned my eyes to Heaven
I thought, “God, why don’t You do something?”
Well, I just couldn’t bear the thought of
People living in poverty
Children sold into slavery
The thought disgusted me
So, I shook my fist at Heaven
Said, “God, why don’t You do something?”
He said, “I did, I created you”If not us, then who
If not me and you
Right now, it’s time for us to do something
If not now, then when
Will we see an end
To all this pain
It’s not enough to do nothing
It’s time for us to do something
I’m so tired of talking
About how we are God’s hands and feet
But it’s easier to say than to be
Live like angels of apathy who tell ourselves
It’s alright, “somebody else will do something”
Well, I don’t know about you
But I’m sick and tired of life with no desire
I don’t want a flame, I want a fire
I wanna be the one who stands up and says,
“I’m gonna do something”
If not us, then who
If not me and you
Right now, it’s time for us to do something
If not now, then when
Will we see an end
To all this pain
It’s not enough to do nothing
It’s time for us to do something
We are the salt of the earth
We are a city on a hill (shine shine, shine shine)
But we’re never gonna change the world
By standing still
No we won’t stand still
No we won’t stand still
No we won’t stand still
If not us, then who
If not me and you
Right now, it’s time for us to do something
If not now, then when
Will we see an end
To all this pain
It’s not enough to do nothing
It’s time for us to do something [x3]
Today, the Borough President came to our school about a 4th Grade reading program, and was so interested in Meghan’s story he took the time to talk to her. She was so thrilled by his genuine nature, and his true interest in her. Not too shabby of a smile for a kid just 2 weeks post op from a complete thyroidectomy!
Meghan chatting with Borough President Oddo!
Today, Meghan addressed the school about what it was like to live with a Rare Disease. She spoke eloquently and passionately. The students were phenomenal. She was exceptionally BRAVE.
This is her speech.
Living with Cowden’s Syndrome
Every day I have pain. Cowden’s is a Rare Disease that never gives you a break and always keeps you on your toes. Cowden’s is a blessing and a curse. I am grateful to Cowden’s, for it has made me who I am today. Cowden’s is also a curse, to have to go through what I do. I DON’T want others to have to do what I do. NO ONE should have to endure the countless doctor’s appointments, tests, hospitalizations, and surgeries that a person with Cowden’s Syndrome has to endure.
Today is February 28th. To many people today is just Friday, but to others, February 28th is Rare Disease Day. Rare Disease Day is to raise awareness about Rare Diseases world wide. Rare Diseases are an issue. 50 percent of Rare Diseases affect children. 300 million of the earth’s population has a Rare Disease. There are over 7,000 Rare Diseases and less than 400 treatments with, currently NO CURES! With Rare Diseases you need all different types of treatments. Treatments and surgeries can be helpful, but they don’t fix the problem permanently. Rare Diseases aren’t contagious. If someone in your family, or a friend of yours, has a Rare Disease, that doesn’t mean that you will have one.
We chose the movie BRAVE for tonight’s movie night on purpose. When you have a Rare Disease you have to be brave. Individuality is very important. No matter who you are, EMBRACE it and be BRAVE. Be an individual. Being BRAVE is about not being scared to be you. Don’t just follow other people. BE a leader, be BRAVE! You are who you are so why not recognize that and make the best of it? Explore and be BRAVE.
Until September of 2011 I did not know I had this Rare Disease, or ANY Rare Disease. All I knew was that my body was far from NORMAL. All I could do was be BRAVE. Every single second of every single day all I CAN do is be BRAVE. You never know what is lurking around the corner. All you can do is prepare yourself and stand up tall against all odds. All you can do is be BRAVE.
Once I learned that I had Cowden’s Syndrome I researched it. It means that my PTEN gene is broken. Your body is made up of all sorts of G-E-N-E-S not J-E-A-N-S like the ones you wear. PTEN is the gene in your body that keeps your body from growing tumors. With a broken PTEN gene, I learned that my body was more likely than other people’s to grow tumors, and that sometimes those tumors could be cancer. Imagine how scared I was, and how I needed to be BRAVE. Cowden’s Syndrome has different versions of the same symptoms on each person. 1 in 200,000 people have Cowden’s Syndrome. Another thing I thought was interesting was that 80 percent of rare diseases are from genetic origin.
I’ve always wanted something to represent me. I knew there was the gold ribbon for Childhood Cancer, the pink ribbon for Breast Cancer, so on and so on. I NEEDED something to represent me. That is why I have this first of a kind denim ribbon necklace. It is the first of its mold and has a ONE OF A KIND inscription on the back. My mom and dad have one too. The support I get from my family is incredibly inspiring. I REALLY want to make more people aware, as you can see.
All you can do with Rare Diseases can do is be BRAVE. Look danger, sadness, disappointments, and diagnoses in the face. Be prepared. Don’t let it break you. For each and every Rare Disease, stand up to the challenges it brings, and don’t let them break you. Let it make you stronger.
When I’m here at school I put on a mask. A mask of happiness, of making people think that I can brush everything away. No one knows that under that mask is a girl with the weight of the world on her shoulders. All I can do is be BRAVE. I cannot do what everyone else can. I struggle to fit in and find acceptance in the world. All I can rely on to make me smile and laugh are my friends. They are part of the reason that I can keep up the mask. I will never let anyone know what I think. That is who I am and what I do. NEVER judge someone by what they look on the outside. I am a perfect example of this.
Be KIND, be AWARE, Rare Diseases are EVERYWHERE!
And then – as if I wasn’t proud enough…. she put this video together all by herself….
Such a proud Mom! Spreading the word…. LOVE this kid.
A short time before we headed to Disney, I wrote about taking out Meghan’s push chair for an appointment in Manhattan. She was terribly bothered by the rude stares that greeted us that day.
As a result we talked, a lot. And, like she always does – she comes through those conversations blowing my mind with her introspective maturity.
Don’t misunderstand me. I sometimes worry that my 10 year old is such a deep thinker. I am acutely aware that she has way more on her plate than she should, and she handles with grace and poise a life that would leave many adults weeping under their covers. I wish she told me everything. I know she doesn’t. My heart often breaks for the burdens she carries.
Yet, she is just so amazing.
After we spoke about the rude “starers” she talked about wanting to have a way to let them know about Cowden’s Syndrome. She wanted to raise awareness.
This card was created out of her need to “teach” others about Cowden’s Syndrome.
So she gave her ideas to Daddy and he created this card. We used the logo from the “Global Genes Project,” an organization that has been dear to Meghan since her diagnosis. http://globalgenes.org/
Meghan wears proudly the denim ribbon created for her by a family friend when she expressed a desire to have a ribbon. something she could wear that would represent her.
A denim cause ribbon, crafted after the Global Genes Project’s slogan, “Hope it’s in our Genes!”
She dreams of one day seeing another child wearing this symbol. She wants it to become as common as the “pink ribbon.” Because, there are about 7,000 rare diseases, and 1 in every 10 people is affected by one. Many of these diseases are genetic. As we learn more about other rare diseases, Meghan understands the need for the rare disease community to unite. So little research is done on so many of these diseases that they remain poorly understood and under funded.
As we packed for the trip – Meghan asked if we could print some of the business cards for her to bring to Disney. She wanted to be able to hand them out. She knew people from all over the world visit Disney, so it would be a great place to spread the word. 500 cards later, I made sure she had all the tools she needed.
What happened next was just another example of how easy it is to be proud to be her mother.
Meghan decided that instead of getting an autograph book this year, she would take pictures with the Disney characters with her cards.
She also spontaneously struck up conversations with complete strangers all over the parks. She would approach cast members, wait staff, photographers, and guests. She spoke to people from the US and well beyond.
And every time she spoke my heart smiled.
She is an incredibly articulate young lady. She explained Cowden’s Syndrome through the eyes of a ten year old to almost 200 people.
Some of the most memorable included a man and his wife and their service dog on the bus to Downtown Disney, and a helpful cast member from Puerto Rico outside the fitting room as she tried on her Merida dress, and a Disney Photopass photographer whose genuine hug was so heartwarming.
Those were just a few. She spoke to so many people over the course of our 9 day trip that I have no doubt there is a greater awareness of Cowden’s Syndrome in the world than there was just 2 weeks ago.
She will tell you she is not a public speaker.
She might even try to tell you she is shy.
I will tell you she is flat out amazing, and that she is going to do already doing great things.
This child will make the world more aware – one card, and one conversation at a time.
These are Just a few who learned something new this week!
In a nutshell that’s what it comes down to. Having HOPE. All the time. Even when it seems too hard.
My daughter Meghan gives me HOPE, and when she wanted to get prepared for “Rare Disease Day” on February 28th by creating lots and lots of denim ribbons… well, it was impossible to resist.
It started out for her school. Then it morphed into my school too. Plus about 500 more.
Meghan has had an affinity for the Global Genes Project since soon after our diagnosis.
As a matter of fact that is the very denim ribbon image she had our friend use when he crafted her “one of a kind” necklace. (Well, now that Mom has one I guess there are two…) That very same necklace she hopes will transform the world’s image of rare diseases and give them a uniting symbol.
A denim cause ribbon, crafted after the Global Genes Project’s slogan, “Hope it’s in our Genes!”
I called our local paper. The reporter met with us for 2 hours Friday of last week. The article printed today.
The link isn’t up yet – not the full one. Just the link for the photo.
So, for now… this is all I have.
We were on the front page of the “North Shore” section.
And here is the article.It will probably read a lot better on an iphone… or with a magnifying glass. 🙂
I will be sure to post the real link when I have it.
But it is here and we are excited. Raising awareness in our hometown.
My girl already wants to add a few schools for next year… Can’t stop this kid, and I wouldn’t have it any other way.
beatingcowdens 
