Milestones

When I started this blog just about two and a half years ago, it was to serve as therapy for me.  It took a while before I even started linking my posts to facebook.  I didn’t pay much attention to the stats of the blog, except to occasionally marvel at the random countries my blog was being read.

This week while searching the year that was, I happened to notice that this little blog has cleared over 100,000 views!

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Stunned.  Amazed.  Humbled.  Grateful.

I think of the people who have reached out to me through this blog.  People looking for an ear, or a point in the right direction.  I think about the newly diagnosed who have come my way a few times, and have been relieved to learn everything can be ok with Cowden’s Syndrome.

I think of the blogs I follow, of people with and without Cowden’s, and all I have learned.  Most especially that WE are not alone.

I think that spirit of companionship, whether it comes from a country across the world, or a city nearby is a factor in what motivates me to keep writing.

But, mostly blogging is my therapy.  My free therapist.  The computer is my listener.  Where I can air my thoughts and ideas, and worries and hopes and dreams.  And then I can edit myself into the positive mindset necessary to press on.  This blog keeps me away from the negativity and the despair that can sometimes accompany this life.

smile-its-free-therapy

And yesterday as I recapped “The year that everything broke…”  I was reminded of all the blessings that came our way in 2014.  And despite the lows, there always seemed to be someone, somewhere, with some random act of kindness, who was able to help us turn things around.  For all of these people – and they know who they are – accept my gratitude, OUR gratitude.  For really this is our story.

Although I am not much a fan of “New Year’s Resolutions,” or proclaiming that things will be drastically different in the minute it takes to pass from 11:59 PM on December 31st to January 1 at 12:00 AM…  I wanted to highlight some of the positive things that have gone on for us in 2014.

We began last year, much as we will begin this year, preparing for Rare Disease Day.  In February there was an assembly at my school.  We gave out ribbons to all the students.  Meghan and another family, two dear boys who had been affected by a different rare disease spoke.  They opened some eyes that day.

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And in the midst of that assembly Meghan met Borough President Oddo.  The two struck up conversation like old friends.  Meghan immediately respected and admired him, and he has become a mentor of sorts.  They are in Email contact, she has been to Borough Hall to visit a few times.  He was really the impetus behind Meghan believing there is no limit to the difference she can make in the world.  He continues to encourage her as she plans Beating Cowden’s First “Jeans for Rare Genes” fundraiser on February 15, 2015.  I feel so fortunate for her to see such a positive role model who changes the lives of so many just by being himself.

Meghan chatting with Borough President Oddo!
Meghan chatting with Borough President Oddo!
Meghan's friend has been a great support in so many ways.
Meghan’s friend has been a great support in so many ways.

We had a fundraiser last year as well, and raised several thousand dollars which was donated to The Global Genes Project.  Satisfaction.  “For the babies who really need it, Mom.”

In February also in the midst of what was almost a train wreck around a bad snowstorm and a carefully orchestrated thyroidectomy, I frantically called in desperation to get us into NYC the night before the surgery.  Ultimately we ended up with the greatest gift, as we were privileged to spend a few hours at Ronald McDonald House in NYC.   The facility, the employees, the organization – all phenomenal.  Our Guardian Angels were active that day!

Ronald McDonald House

Our Room
Our Room

Meghan received some awards this year that made us very proud.  In the Spring she was selected as “Staten Islander of the Week.”  At graduation, she received the “Portrait of Courage” award.  In the summer she received a nomination from the Global Genes Project for their “Teen Advocacy Award.” On my birthday she received a “Kid of Achievement” award from the Staten Island Children’s Museum.   She was starting to get the idea that SHE can make a difference.

Meghan 2014 Nominee for Global Genes Project Teen Advocacy Award
Meghan 2014 Nominee for Global Genes Project Teen Advocacy Award
2014 Kid of Achievement - Staten Island Children's Museum
2014 Kid of Achievement – Staten Island Children’s Museum

In July the Borough President’s office arranged for Meghan to throw out the first pitch at a Staten Island Yankee game.  And this girl who had never thrown a ball before received a crash course from some great friends.  Not only was the pitch a success, but the number of friends and relatives who joined us at the game, wearing “I love someone with Cowden’s Syndrome” T-shirts, was beyond touching.  We are loved.

SI Yankee 2014 B1

August saw the overcoming of a lifelong fear of roller coasters, for both of us.

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And in the fall we saw the first glimmer of hope that Meghan’s dream for a denim ribbon necklace was steps from being realized.  Exciting times all around.

It looks like it will happen- SOON!
It looks like it will happen- SOON!

We capped the year off at the Stone House at Clove Lakes, with another family with a different rare disease, lighting their Christmas Tree to help raise awareness of rare and genetic diseases.  Meghan’s intermediate school chorus came out on that chilly night to support the cause.

Meghan and Uncle Chris at The Stone House
Meghan and Uncle Chris at The Stone House

So Cowden’s Syndrome, while it creates more than it’s fair share of heartache and obstacles, also creates opportunity when we look for it.

Just like we notch off and remember each surgery, and the milestone of overcoming the recovery, we also acknowledge, enjoy, and savor the positive milestones.

We remember that “everyone has something.”  We are grateful for the blessings in our lives.  No one’s life is perfect, and far too often we all suffer from the belief that someone else’s “grass is greener.”

May each day hold for you enough positives to counteract the negatives, and the ability to look for the good in all situations, people and places.

That is my wish for my family and friends near and far, not just for the new year – but for every day of your lives.

Visiting Daddy at work on the New Year's Eve Ball
Visiting Daddy at work on the New Year’s Eve Ball

 

Champions of Hope – Global Genes Project

I received this in the mail today, and thought it was an error.
I received this in the mail today, and thought it was an error.

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

2013 RARE 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
  • In 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!

I have always wanted to be a doctor!
I have always wanted to be a doctor!

Puzzle Piece

I remember being much younger and loving puzzles.  We would set them out on the table at home and everyone would take some time trying to get it going.  They were big and had lots of pieces and were often slow going at first.  Everything looked the same, and sometimes it could take hours to fit in a few pieces.

Then, over the next few days, and sometimes weeks, with everyone taking a turn, slowly the picture would start to take shape and the puzzle would come together.  It was always so exciting once you could make out the features, and so much easier to plug in the missing pieces.

puzzle 2

I remember the feeling of satisfaction as one would be completed.   There was something especially gratifying about those last few pieces.  It was that feeling of satisfaction.  We set out minds to this.  It took a few of us, but we got it done.  We figured it out – together.

By now you can probably see where I am going with this.

Today marks one year since I wrote my first blog post in 2012.

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In one year the posts I have written have been read over 30,000 times.  People have stopped by to read some – or all of our journey with Cowden’s Syndrome.

30,000

I have met other Cowden’s Sufferers through this blog, and on the internet.  I have received messages, and corresponded with quite a few.  I have learned their stories, and heard about their puzzles.

puzzle 3

I have also “met” a few with other puzzling disorders,figuring life out and getting by one day at a time.

I am sometimes  forever humbled, and amazed by the odd and abstract idea that people who I don’t know have gotten to know us, and used us as pieces to help complete their own puzzles.

I noticed a link on my blog today from “pinterest.”  Having never been to the website, I clicked the link to find a picture of my family.  http://pinterest.com/pin/290974825894950598/

I was pleased that it was used in its proper context, and was mentioned in terms of rare diseases.  But, I was still amazed.  Someone had read, and linked, and…

Well, the possibilities are endless.  Thank goodness for the internet.

Where else would I meet people from all over the world,. and swap stories about a genetic disorder with an occurence rate of 1 in 200,000?  Where else would I find organizations like

PTEN

PTEN World https://www.facebook.com/ptenworld?fref=ts

Or

hope its in our genes

The Global Genes Project https://www.facebook.com/globalgenesproject?fref=ts

This last year of blogging has been an awakening for me.  It has opened my eyes to so many other people, their stories, and the world at my fingertips.  Since our diagnosis in the fall of 2011 it has become so important to become aware, to gain support, to advocate for others, and for ourselves.

I remember working on puzzles as a little girl.  I remember that feeling of satisfaction when the puzzle was complete and the picture was clear.

I don’t do those kind of puzzles anymore.

Now I figure out how to prepare 2,000 denim ribbons and get them distributed on time for Rare Disease Day.

denim ribbons

Now I work on helping my girl find her place in this world – trying to be a “regular” kid, yet undergoing so many more stressors than any 9 year old should.

I work on puzzles that lead us from one doctor to another, dropping them like leaves off the trees on a fall day.

I work on puzzling questions, and I persist until I get answers.

puzzle 1

I get overwhelmed sometimes – looking for the pieces I can’t seem to find.

Sometimes I want the puzzle to have its edges all done, the way I learned.  I want it to be neat.  I would like all the matching colors to go together

But, that isn’t how life is designed to be.  Not with Cowden’s Syndrome.

Not for any of us really.

Maybe it’s not a puzzle – but more of a domino game… branching off in so many different directions.  Occasionally stopped by a dead end – only to find another path.

Or maybe it’s just a puzzle of an “atypical” sort.  Not one that actually fits in a box.  One that requires patience, time, dedication and focus.

Thinking_Outside_The_Box_by_mclelun

In front of me tonight are 22 pages of blood work drawn on my daughter over the last month.  There are some definite issues.  My phone consult with her doctor is a week away.  In the mean time I am left to try to put it together the best way that I can.

I handle each piece delicately, gingerly.  I don’t want to damage anything, or miss anything either.

There is no picture, no model to duplicate.  There are no directions.  No guide.  Just instincts.  Prayer.  Love and support of friends far and near.

broken pieces into masterpieces

Tonight I will study until I can figure out one more piece.  Then there will be tomorrow.

The journey is long.  The puzzle evolves.  I am not going anywhere.

Thanks for sticking around.