A “Guest Blogger” for our 200th Post!

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I wanted to make the 200th post of “BEATINGCOWDENS” extra special, so I asked my (almost) ten year old daughter Meghan to be the Guest Blogger!

1. How has Cowden’s Syndrome changed you? 

Cowden’s Syndrome hasn’t changed me.  It has always been a part of me.  Knowing I have Cowden’s Syndrome has only made me more aware and more prone to understanding my body.

2. What are some things you want people to know about being a kid with Cowden’s Syndrome (PTEN Mutation)?  

It’s hard not to be like other kids, but I am really glad all of the problems are found earlier than later.

3. What makes you glad you were diagnosed?

My diagnosis forced me to look at what was good for me and what wasn’t.  I had to give up soccer and dance, but I LOVE swimming, and I feel like I am getting better at it every day.  I am always trying to improve physically because I need to stay strong.  I am glad I found a way to compete with other kids, and not always be last.  I am also building swimming friendships.

Spring 2013
Spring 2013

4. What makes you sad/scared/ or worried you were diagnosed?

I feel more vulnerable, and sometimes a bit weaker because I can’t do everything the other kids can do.  I can’t run and play outside like them.  My weak immune system causes me to get more viruses, and I worry about thyroid cancer too. I try to find the positive in every negative and I don’t let worry get the best of me.

5. What is the most frustrating part of Cowden’s Syndrome?

I go to so many more appointments than any of my friends, and lots of times we have to wait forever.  I keep busy at my appointments with my books, my iPad, and my Rainbow Loom.  It is taking up the first few weeks of my summer vacation, and I would rather be home and bored than running back and forth to Manhattan every day!

6. Do you have any kids that you can talk to about your diagnosis?

I feel like I have three kids I can really talk to that understand.  My friend Conner is in Colorado.  He also has Cowden’s.  He is about my age and really funny.  Also, I can talk to my friend Georgia in Australia.  She is also about my age, and even though we are really far away from each other, she is a very nice girl.  I am glad I know her.  I have been able to FACE TIME with these far away friends.  Sometimes the time difference gets tricky, especially to Australia.  The first time I saw Georgia it was 10PM here!  We talked for over an hour!

I also have a friend on Staten Island,  who I feel like I can talk to.  Even though its only been a short time, I hope our friendship continues to grow.

7. What do you hope to do when you grow up?

When I grow up I want to be a genetecist.

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

I feel like I will know a lot about it.  I also want to do agility training for dogs.  Right now I have two dogs that I love very much, Allie, and Lucky.  I always want to have dogs.

Lucky and Allie
Lucky and Allie

8. How do you plan on using your diagnosis to make a difference in the world?

I plan on making all rare diseases more well known.  I want to do a movie night at my school and raise money to donate to The Global Genes Project – they help all rare diseases.

I want more people to understand rare diseases, and do more research so there can be a cure.

But, all that starts with awareness.  Last year I asked my parents for something to wear, a symbol (like a pink ribbon) that would represent me, and my struggle with Cowden’s Syndrome.  The Global Genes Project uses a denim ribbon and the saying “Hope It’s in Our Genes.”  I really like that symbol so Mom’s friend made it into a necklace for me.  It is hand engraved, and says “First of its kind.”  It is really special.

A denim cause ribbon, crafted after the Global Genes Project's slogan, "Hope it's in our Genes!"
A denim cause ribbon, crafted after the Global Genes Project’s slogan, “Hope it’s in our Genes!”

Mom and Dad have one now too.  One day I hope to look across the room and see someone else wearing one.  I want the denim ribbon to be as popular as the “pink ribbon”

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Hi. I’m Meghan.

 I am really excited to be Guest Blogger.  Life with Cowden’s is hard.  I try to focus on all I can do, and like to do – especially swimming and reading.  I’m an (almost) 10 year old.  I wanted a normal life, but really when I think about it my life is the only one I know.   Even with its cons I’m happy with it.  Cowden’s Syndrome is a real pain,but its brought out the best in me.  People need to be aware of these diseases.  It feels great when someone understands you a tries to lend a hand.  

Thanks For Reading!

Love,

Meghan

The Cowden’s Syndrome Roller Coaster

Maybe if I could attach my cell phone right here…

I can not tell you for the life of me why Spiderman was on my mind today, but I was thinking I could use one of those web shooting things.  It could be modified to hold the cell phone that is constantly in my hand!  I remember when Meghan was so colicky, and I used to carry her all day in that Baby Bjorn carrier.  I LOVED having my hands free again.  I hated that she just kept crying, but at least I could move around a bit. I am starting to feel painfully tethered to my phone.  I waited forever for the vascular surgeon to call.  Now Dr. K from Boston called Saturday, and we still haven’t connected.   

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Paranoid to miss his call, I carry my phone EVERYWHERE I go. I am not kidding, that is my cell phone in the plastic bag at the beach today.

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Today was a banner day. 

It was the FIRST time we have been to the beach since before her first birthday.

  This child was so sensory sensitive that we were both deeply traumatized by the first trip.  It took us almost 8 years to work up the nerve to do it again, and boy has she come a LONG WAY!

 We only stayed a few hours. 

Long enough to get into the sand and build a castle.  Long enough to find a few shells.  Long enough to jump a few waves.  Long enough for her to say, “Mom my knee is clicking every time I step and it hurts.” 

Clutching my old scratched up cell phone like it holds the answers to all life’s problems I silently, desperately, wish it would ring. 

But then what? 

Will Dr. K have a single answer? 

Will he want us to drive 5 hours just so he can say, “I don’t know?” 

Yesterday we saw Dr. P – the geneticist at NYU who started all this about a year ago.  

It was a friendly visit, catching up on all we have done.  I had a chance to thank him for “catching” the Cowden’s Syndrome a year ago.  It was his desire to dig deeper, and to solve the puzzle, that undoubtedly changed the course of our lives, and likely already saved mine.

 He asked a lot of questions again.  He looked closely at Meghan, especially her legs.  He pointed out again the 1/2 cm discrepancy.  He pointed out the swelling in her LEFT knee, likely the result of her favoring her right knee. (The AWESOME PT Dr. Jill, already called that one!) 

He listened to my concerns about her avoidance of activities.  He said the fact that the Celebrex is working means to him she likely has arthritis due to deterioration from small amounts of blood circulating the knee joint.  Not JRA, but degenerative arthritis.  He said she can’t stay on Celebrex forever. And although I knew that I was busy shuddering at the alternatives. 

He will nose around, and see if he can get a closer orthopedist to take a look.  Then he will look for an oncologist for me.  In the mean time he said, let’s just get a screening sonogram of her kidneys, to be safe.  Just a baseline. 

3 hours later we had word that her kidneys are “beautiful” and untouched by Cowden’s. We left NYU exhausted, and relieved, but still waiting.  Always waiting, and wondering, and worrying.  What next?  Can we fix it?  Wait… nothing new please!  We haven’t fixed the last thing yet… and so on and so on. 

 Tomorrow we will go back to the pediatrician to recheck for the recurrent strep.  Then, a much anticipated play date for Meghan.

Then Friday, its to the plastic surgeon for my recheck, with another playdate for Meghan. 

All the while my cell phone will be close at hand. Last year at Disney they finally got me on Big Thunder Mountain Railroad.  Good thing.  I think it’s a case of life imitating amusement park here. 

Cowden’s Syndrome is a great big roller coaster, so I better get a stronger stomach!