The video is a little tough at points – but you get the idea.
Side by side with my girl!! LOVE THIS KID!
Tag: Global Genes Project
“A Friend in Borough Hall”
Meghan received a special invitation a few weeks back. She kept quiet about it – even though she was bursting at the seems.
On February 27th, as we were preparing for Rare Disease Day, Meghan met and shared her story with Borough President James Oddo. They hit it off instantly, and spoke like old friends for quite some time before he broke away to introduce the “Readers are Leaders” Campaign to our school.
More about their meeting here:
https://beatingcowdens.com/2014/02/27/rare-disease-day-2014-through-meghans-eyes/
Well after their extended conversation, the Borough President gave Meghan his Email address and reminded her she had a “friend in Borough Hall.”
They exchanged Emails at least once, and Meghan was THRILLED to receive an invitation to sit with the Borough President AT Borough Hall – 4PM, March 28th.
And the make the whole thing even more exciting, her efforts on advocacy and awareness and fundraising earned her the nomination for NY1 “Staten Islander of the Week.” (More on that segment which will air next Friday to follow.)
We arrived early, a rarity for us, but this was a REALLY big deal. Meghan had carefully selected a few gifts for the Borough President which were tucked in my bag. She proudly donned her “previvor” tee, and we sat anxiously in the comfortable waiting room.
We were given a tour of the basement and first floors, and showered with some gifts by “AJ.” A giant help, and a generally nice guy.
Then, it was time.
Meghan and I were greeted with hugs by our warm and extremely genuine Borough President. He repeatedly introduced Meghan as his friend. He told stories of how she inspires him. His staff and constituents walked in and out, joined the conversation, and came and went, as if a 10 year old in the office was a normal occurrence. They talked about health and advocacy, about her denim ribbon necklace, and her Cowden’s Syndrome Awareness card. They talked about her surgeries and her medical struggles, but also about reading, and literature, and the healing power of dogs. They have quite a lot in common and my heart sang to watch my 10 year old in the arm chair hold her own with a well-respected politician as if they had been friends for years.
The NY1 interview was comfortable. She speaks clearly, and flashes an award winning smile.
Meghan gave Borough President a rock with the word “courage” in it, after he shared a touching story with her.
He reminded her if she needs anything, she is to contact him directly. And as the year goes on as she thinks of new ways to spread the word about Rare Diseases, he will help in any way he can.
Her eyes brightened. Her goals got larger.
“You can be angry, or you can DO something, So I decided to DO something,” she told the reporter.
And she did.
And she will.
Watch out world.
Thank you Borough President Oddo. Staten Island is in good hands. You are one of the good guys.
Rare Disease Day 2014 – Through Meghan’s Eyes
Yesterday, our local paper published an article about Meghan and Rare Disease Day.
http://www.silive.com/news/index.ssf/2014/02/post_738.html
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!
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.
Can’t wait until tomorrow for MOVIE NIGHT!
And the body says… SLOW DOWN!
So it’s almost 2 AM on Sunday. And I have to say, I didn’t see this one coming.
This is the part where I remind people over and over that just because you CAN live without a body part, doesn’t mean your body doesn’t miss it when its gone. I mean we were made in one piece…
So the recovery was going pretty well, but that’s mostly due to her feisty determination.
But there is a point where you look back over the last 9 days and consider a few major things. That point came at about 4, and 5 , and 6 this afternoon as she was violently and quickly vomiting herself into dehydration.
If you consider that there was the stress and worry of HOW we were going to get to the surgery, then the brief pleasant stay at Ronald McDonald House, followed by a 4 hour surgical delay, coupled with a less than smooth hospital stay that had its share of communication issues… you start to get a sense of the stress that has been this February “vacation.”
Really it extends way farther back than that… but rather than bore you again with all the back story I’ll stay current.
So on the 13th the thyroid came out. It was a three hour procedure with lots of general anesthesia junk for my pretty organic girl. Then there was the whole removing an actual PART of her body. And then there was the introduction of the synthetic replacement hormone. And there was lots of fidgeting with calcium levels. And there were narcotic pain meds for a few days too to keep the edge off.
And at some point around 4 today her body had had enough.
I love when Meghan vomits and people say, “Is she sick?” And I say “nope.” Rarely, (knock on wood – NOW please) does Meghan get a “stomach virus,” but she’s not a stranger to vomiting. She vomits when her body has had enough.
And today, her stomach hurt. Her knees hurt. Her hips hurt. Today I couldn’t keep the pedialyte in cause it all happened so fast. And, since there’s a first time for everything – we actually had to go to the ER for fluids. Except she’s Meghan. And she’s only a bit over a week post op. And they just wanted to be careful… so she’s asleep in the bed. I am typing away as I won’t even attempt to sleep until after the 3 AM meds.
And after the ER was over and we came up to the floor for a bed – in a place we have spent some time before- we passed by the NICU where she started her life in 2003. While I was reflecting I looked at our nurse and thought she looked a little familiar. Once she told me her name I was incredibly grateful I had been kind to her son when he was in my 5th grade class some (AHEM 13 – or more) years ago. You never know when you’ll need Karma on your side…
And now this poor, lovely nurse was left to contend with my daughter, reading package inserts and discussing medications before they were given. Meghan talks a lot. But I didn’t feel guilty about that part (GRIN.)
So the fluids kicked in and she began to perk up. She had time to share with the doctors and the nurse her denim ribbons, her Cowden’s card, AND her movie for RARE Disease Day. They want us to bring them some ribbons for the floor.
Me, I got my nutrients in my – thank goodness I always stuff a meal bar and an EShot into my bag… ALWAYS. That knocked that pounding headache right out.
She bounces back. Quickly. But sometimes a little too well. I have to watch her. Determination can’t do it all. The body has to help too. And as strong and tough as she is, we all need to be reminded that, well she has this RARE Genetic Disorder called PTEN Hamartoma Tumor Syndrome… or Cowden’s Syndrome… and well, even though we may not always want to admit it – that darned syndrome can make life a little extra tricky.
Here. We. Go. Again.
This will be the year the surgeries outpace the age. She’s been running a cool average of one a year for quite some time. Now, at just about 10 and a half, she will get a jump start of her 11th surgery. February 13th. One week.
That’s 11 surgeries. Full on. Operating room. General anesthesia. Waiting for pathology. Sometimes ICU. Often staying overnight. Real deal surgeries.
By my count we have been in 4 hospitals. We have a system. Felix goes into the OR. I stay overnight. It works for us.
Who has a “system” for surgery?
And that’s not the tests. The MRIs that early on required general anesthesia, the three thyroid biopsies, the ultrasounds in countless places. Nope. Those have their own tally altogether.
My Grandma is 93. She hasn’t had surgery yet. Meghan thinks that’s weird.
That’s life with Cowden’s Syndrome. Healing is “BEATINGCOWDENS.”
Surgery – the new normal. Organ removal – the necessary means to avoid something worse.
I expected the surgical consult to be on the 6th. Then my cell phone rang on the afternoon of the 4th. It was confirming our appointment for the 5th. The day it was going to snow, and ice and create horrendous road conditions. And, if I couldn’t make it – it would be another month.
So, I spoke to my super understanding boss. I rewrote my plans for a Weds. absence instead of Thursday, and after chopping anout 1/4 inch of ice off everything we left home at about 10:30 Weds. morning.
We have created quite an an army of guardian angels, and I called on every single one of them to guide our trip. They were on point. Not a hitch. We were sitting in the waiting room hours before our appointment.
I got to develop the pit in my stomach as the young superheroes and their parents spent the afternoon on chemo pumps. Pushing time. The beautiful bald two year old in the blood room was a reminder to mind my blessings.
I had been under the impression I was coming to discuss IF surgery was a good option. I had already decided I was unsure how I felt about whatever the poor pediatric surgeon at Memorial Sloan Kettering Cancer Center was going to be able to tell me. But, I was a bit shocked when there really was no “if” in the room.
Her neck was examined. Her notes reviewed. I was reminded again of the failure rate of Fine Needle Aspirations for the thyroid. (Close to 10% in case you wanted to know.) I asked again what made her a good candidate for a complete thryoidectomy at 10. The nodules. Consistent growth. Vascular feed. The tickle in the throat… It’s time they said. It’s time.
I lost my thryoid at 20 in 1993 to a condition called “multinodular goiter” and “Hashimoto’s thyroiditis.” They both stink. But now I find myself wishing for such benign conditions to be the final result of the pathology we will receive 5 to 7 days post op.
Everything is moving faster here. I don’t like it. Not one bit. I am a numbers person and these stats make me ill.
But, onward we go… because what choice do we have?
There will be work. Follow ups. Thyroid hormones to balance. But we will figure it out.
She laughed today. A lot. Maybe she is relieved without the uncertainty. She knew. We all knew.
Saturday I will sign her up for her second year of CYO swimming. The surgeon says only a week out of the pool. And her scar should be half the size of mine.
Two days off of school Then a vacation. Kind of. A “Stay-cation.” Daddy will be home too. Some movies, and maybe even some resting. Maybe some healing for all of us.
She’ll be back in full effect. Ready to rock “RARE DISEASE DAY 2014.” Denim ribbons. T-Shirts. Movie night.
A girl has to have SOMETHING to focus on.
Getting out of my own way…
I am actively, consciously, deliberately, trying to get out of my own way.
I have hopes, goals, dreams, aspirations. I love my daughter, my husband and God and my family and friends.
I want to be stellar mom, an outstanding wife, and a good friend.
I want to be a Christian woman who leads by example.
I want to shout from the mountaintops about the organic superfood changing lives in my house, and giving us energy and clarity of mind we never thought possible.
I want to teach people about health and wealth and how they can go hand in hand.
But I am stuck.
Right in the middle of my own way.
We had Meghan to the neurologist today. We left Staten Island at 1:45 and traveled the approximately 17 miles to the appointment in Manhattan. It took an hour and a half. I just about worked myself into a migraine on the way.
But, fortunately, the torturous migraines of the fall are a memory. Controlled by a medication I would rather her not take. Today we got a dose increase, and something to help her sleep. It should be noted the ONLY side effect the neurologist would even discuss from the medication was drowsiness. HA! Not here. There’s my Meg… doing it her own way.
This was an easy appointment. We were home by 5:30 although wiped out by the journey – all of us. The follow-up is in a few months, the new script is in hand.
They are asleep.
I am sitting at the computer. Thinking. Researching. Typing. Organizing. Planning. Attacking everything. Accomplishing – not so much.
Today I called to reschedule the thyroid surgical consultation. Suddenly 5 weeks seems like a really long time. The tickle in the throat is troublesome. It turns into coughing when she gets nervous, and is only pacified into a tickle by the boxes of cough drops on my counter. I try to ignore the reality that we both know exists. I try to tell her it’s no big deal, and to casually ask her to show me where it bothers her.
“It’s not sore till I cough. It just feels weird – right here.”
And there on the right side of the thyroid is what has begun to feel like a small stone. I try not to let my imagination get the best of me as I picture it pushing on her windpipe.
“It’s fine,” I tell her. “We’ll just get the doctor to take a quick look.”
She’s not dumb. Not by any means. And that is a good deal of the problem. Gone are the days when I could lie through my teeth and protect her from the evils of Cowden’s Syndrome – lurking behind each corner, hiding under the bed, and in the closet. Now the monster is real. And it gives real life nightmares.
So in 2 weeks, on February 6th we will head to Sloan Kettering to meet the pediatric surgeon. No one can be sure what he will say. And I am not sure there is a statement he will make that will soothe me or make me happy.
And the waiting game continues. One appointment down. Two weeks till the next. Then on the 11th I have 3 and she has one. I still haven’t figured if its better to consolidate or spread them out. They just keep coming. One after another…
“Beatingcowdens” will suck out your energy if you let it.
But I won’t. That’s why I have gotten so involved in this superfood, and this fabulous company called Isagenix. Recently they named their 100th millionaire. A school guidance counselor from NJ with no network marketing experience. We three start every day with our shakes. We use the snacks and the meal bars, and the tea, and tonight they both took the melatonin spray to sleep. We are feeling better and better. So in the time I have at night, I listen to podcasts, I learn all I can. And I try to share with my family and friends that I am finally not that sickly little girl they knew. I try to share with them the health and wellness opportunities, and the vision for financial freedom. I am here. I am ready. If they will listen.
And its a good thing I am a master at multitasking, because there are lesson plans to write – for a subject I love across a LOT of grades. Trying every moment to be the best I can be.
As I sort through the last boxes from Dad’s apartment. And I laugh, and I smile, and I cry. As I make binders of beautiful 8×10 prints I found everywhere. As I sort through the photos on CD and prepare hard drives for my brother and sister. And I chuckle at the bills that come in, and I make contact with the members of his platoon in Vietnam, and his old friends – one at a time. Unearthing buried treasure from a man I loved dearly. Not a saint, but who is? And so much wiser than any of us really gave him credit for.
And I make list after list of the things I need to do. In the house, in life, on the computer… Supplements to order, new pants for my growing girl, laundry, and a haircut, and all sorts of other random yet necessary things.
I think about my friends who I love. The ones I never call, or barely talk to. The ones who I text instead of calling or visiting. I think of how busy our lives are… and for what?
Rare Disease Day is coming. February 28th. Our school is celebrating. Meghan is thrilled. There will be Tshirt sales, and a movie night, and proceeds to the “Global Genes Project.” It gives purpose. Hope. A distraction.
Somewhere in the midst of all this I have to stop and wonder. How do people do it?
Our lives have their own brand of busy – a medical type – which may be different than that of my friends, but it bears similarities. Over run. Overworked. Exhausted. Worried.
How do they get out of their own way? How do they manage to keep the balance of friendships and “play dates” for adults and kids? How do they get the laundry and the grocery shopping done, and still find time to play?
I think I am a pretty organized Mom. But yet – I need to use my time better. I won’t part with my writing. That’s therapy for me.
I’ve minimized the clutter in my house (just don’t look in the closets.) Now its time to minimize the clutter in my head.
Cowden’s Syndrome Awareness
Rare Disease Day
Doctors, surgery?
Isagenix – health and wealth
Reconnecting with old friends
Making the time to exercise… cause I like it.
FOCUS
Now if you’ll excuse me… I have to find my way out of this maze…
I’ve got work to do!
Courageous…
Lions and Tigers and Bears, Oh MY… Lions and Tigers and Bears, Oh MY…
Three Years ago Meghan was Dorothy for Halloween. The idea originated on a trip to Disney as we went through “The Great Movie Ride.” Felix and I realized she had never seen “The Wizard of Oz,” and we had a thrilling time explaining the story and later watching the movie together.
Meghan liked Dorothy because she felt like she could relate to her. She respected Dorothy’s bravery as she led the Lion, the Tin Man, and the Scarecrow to see the Wizard of Oz. She liked Dorothy’s stamina, and her determination. Dorothy never gave up. And she carried a dog. Really, what more could a girl want?
Of course for my only child, my girl, I jumped full in and spent a ridiculous sum on a fabulous Dorothy dress and some ruby slippers. Well worth it. Worth it for the memories, for her smile of excitement, and for days like today when I can remind her that she and Dorothy have an awful lot in common.
Meghan is fighting shoulder pain. Deep, knotted pain. The mean, painful kind, only pacified with full strength muscle relaxants, that you don’t wish on anyone – especially not a 10 year old. And definitely not THIS 10 year old.
One might theorize that its stress related, and one might even be tempted to tell her to relax, and let a few things go. One might be tempted to admonish her for making herself so tense. Really, at 10 – what should she be worried about?
Then if that very same person, who hopefully thought before they spoke, really contemplated the life of this kid – they might understand. They might even grab a pen and help her write her homework, or make some time to rub that shoulder.
And, while they rubbed, and listened to the throat clearing which must just be flat-out annoying to HER, they would really be in awe that she holds it together as well as she does.
She is a kid. A kid with a growing up body, and grown up worries. And a kid who still has kid worries too.
While anyone who sees her sees a cool, confident smile, and a remarkable, articulate presence, only a precious few have glimmers of the “lion” side.
Meghan strives to achieve excellence, all the time. She wants to do her best in school. Actually, she expects herself to be perfect in school. She agonizes over each step along the way. She loves the children. She enjoys the teachers. And this young lady who spends so much time feeling “abnormal,” strives every second of the day to fit in perfectly at school. She relishes the feeling of “normalcy,” even if only for a few hours each day. The problem is, anything less than perfection is unacceptable to her.
Now, if I am honest, and introspective the phrase “alligators have alligators” comes to mind. She learned a lot of this worry from me. And even though I do not have the expectations of her that she has of herself, I have those expectations of MYSELF. I want to give it all to everyone, all the time. And sometimes, I feel as though the “perfect storm” is lurking, and my inability to “let it go,” could be the inevitable cause.
But what to “let go?” Please, don’t even get me started. Maybe instead I, the lion, should focus on my faith – toss it up to God, and lead by example.
Easier said than done of course.
So I, the Cowardly Lion watch, as my brave Dorothy leads down our “Yellow Brick Road.”
Sometimes we have to duck out of the way, as obstacles fly in our faces, but we press on. And I watch as my brave girl starts to work on a Rare Disease Day Movie Night fundraiser. I watch as she puts others first. I follow her lead, glad to be her back up.
I watch as she gathers information. I listen as she asks her aunt to help her create a Power Point. I admire her focus.
She suffers. She grieves. She stresses. She panics. She hurts. But she perseveres.
Rare Disease Day – February 28, 2014.
Thyroid Surgical consultation – February 25, 2014.
Making a difference every day.
She was made to be “Courageous”
We are “beatingcowdens!”
STUPID CANCER show!
I am absolutely high on adrenaline right now…
In August the husband of a friend from High School asked me to be on “The Stupid Cancer Show.”
https://www.facebook.com/stupidcancer
I said yes, not quite sure exactly what would be involved, but knowing that it was a rare opportunity to speak to Cowden’s Syndrome awareness.
Tonight was the night.
What an amazing show. I am so glad to be familiar with it now, and you should check it out!
Somehow the words came pouring out. It’s amazing what speaking from the heart can do. I can only hope that someone tonight knows what they didn’t know before.
I find there to be no coincidences in life.
After my segment in the “Survivor Spotlight,” the show focused on toxicity and cancer. Well even though I just listened in to THAT part of the show, I was so in tune to what they were saying.
http://www.blogtalkradio.com/stupidcancershow/2013/10/22/stupid-environment
(My part of the show starts at about 11 minutes, and ends around 30 – I talk too much! But I managed to mention my friends at Life with Cowden’s, PTEN world, and The Global Genes Project!)
Near as I can figure these days, breathing increases your cancer risk. But, taking crappy care of your body, eating junky food, and generally being careless, puts you at a greater risk than if you are careful.
There is nothing we can do, especially those of us with genetic predispositions to cancer, to fully protect us. But we can do what we can to help.
There is no guarantee I won’t get hit by a car, but if I stand in the middle of the street I greatly increase my chances.
People ask why we devote so much of our time, energy and budget into healthy food.
Genetics are not on our side. But we can fill our bodies with healthy, pure, organic superfood.
These days the core of the nutrition in our home comes from Isagenix. It does not claim to prevent, treat or cure any disease, but If you haven’t looked yet – now is a good time.
This company provides quality food, and they make it possible for you to afford it, because you can eat your Isagenix for free.
“You plus two, them plus two.”
Well worth my initial investment. Quality nutrition for my entire family.
We are certainly going to do the best we can at all times.
Our health, no guarantee. But we are going to do the best we can to keep that “STUPID CANCER” away.
Raising Awareness – One Card at a Time
I am going to brag.
Brace yourself. It might be a long one.
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.
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.
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!
Champions of Hope – Global Genes Project
I actually Emailed the woman on the card to tell her they had made a mistake.
She assured me they hadn’t. She even forwarded me the nomination form that had been sent in on behalf of Meghan and I. Touched. Stunned. Honored. Flattered.
I talk to Meghan all the time about the blog, about the internet, and about forfeiting privacy in the interest of reaching others and raising awareness. She is all in. She is a preteen. This is the time to address internet issues all the time. I told her the other day she would only want things on the internet about her she would be proud if her family or a future boss saw. She agreed. She is proud of this, and so am I.
We are big supporters of the Global Genes Project. We wear the denim ribbon on our necks every day. (And we hope beyond hope that one day, they will sell them as an awareness raising fund-raiser!)
The winners have been chosen. I wish them all the best.
I have no idea how many people across the world received this glass block that we received. It doesn’t matter, because it won’t make it any less special.
We haven’t done much – just openly told our story. But, apparently to some, that is all they needed.
I am so grateful for the “Rare Disease” friends I have met along the way – those with Cowden’s and other PTEN mutations, and those with diseases I myself am first learning about. Separate we are weak. Together we are strong.
And to the very strong lady, my friend who I have never met, who had the love in her heart to think of us, to nominate us… well, BIG HUGS to you. You continue to make a difference every day.
2013 “Tribute To Champions of Hope” Gala
They will celebrate in California on September 21st. We will celebrate right here, and with them in spirit.
There are people making a difference for our “Rare” community at large. I am eternally grateful. One day, all this will change… (source) http://globalgenes.org/rarefacts/
RARE Facts and Statistics
Statistics and Figures on Prevalence of Rare and Genetic Diseases
Although rare and genetic diseases, and many times the symptoms, are uncommon to most doctors, rare diseases as a whole represent a large medical challenge. Combine this with the lack of financial or market incentives to treat or cure rare diseases, and you have a serious public health problem.
Here are a few statistics and facts to illustrate the breadth of the rare disease problem worldwide.
- There are approximately 7,000 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 U.S. population
- Similar to the United States, Europe has approximately 30 million people living with rare diseases. It is estimated that 350 million people worldwide suffer from rare diseases
- If all of the people with rare diseases lived in one country, it would be the world’s 3rd most populous country
- I
n the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease - 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
- 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
- Rare diseases are responsible for 35% of deaths in the first year of life
- The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases
- According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment
- During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined
- According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease
- Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease
And one day this list will be a lot shorter. http://globalgenes.org/rarelist/ (Click to see the more than 7,000 Rare Diseases)
For tonight – I will rest knowing we have helped a few people as best we can, and that we have raised awareness of a few others. I will rest knowing that while I endure the agonizing wait for the wrist MRI there are people working so that one day these Rare Diseases will be a distant memory.
I will rest thinking of my daughter – the future geneticist. One who WILL make a difference!
beatingcowdens 
