My Little Ambassador

Meghan is really into raising awareness of Cowden’s Syndrome and other Rare and Genetic Diseases.  She is extremely excited about “World Rare Disease Day” on February 28th.

We are in the process of making MANY denim ribbons that look like this.  She plans to ask her principal tomorrow if she can give one to every staff member and student in the school.  She wants to do this purely to raise awareness.  Her ideas for fundraisers are developing separately.

denim ribbonShe has also researched statistics on Rare Diseases, and came up with this sheet to attach to the ribbons.

February 28th is World Rare Disease Day


My name is Meghan… and I have a Rare Disease called Cowden’s Syndrome.  It is a genetic disease that affects only about 1 in 200,000 people.  (That is only about 1,500 in the whole USA!)  One of my genes called PTEN is broken.  It causes tumors and vascular growths in my body.  I have lots of surgeries.  My Mom has Cowden’s too.  We are luckier than a lot of other people with rare diseases.

I learned some information about other rare and genetic diseases;

1. There are about 7,000 types of rare diseases.

2. Some of the rare diseases affect less than 100 people.

3. 50% of all rare diseases affect children, and are responsible for 35% of the deaths in the first year of life.

4. 1 in 10 Americans are living with a rare disease.

5 About 350 million people in the world are affected by rare diseases.

6. If all the people with rare diseases lived in one country, it would have the 3rd biggest population in the world.

7. 80% of rare diseases are genetic.  They can present at any time in a person’s life.  My mom was much older than me when she was diagnosed.  I was diagnosed first!

8. There are no cures for any rare disease, and only 5% of them have any treatment.

9. Over 50% of all rare diseases have no foundations, support groups, or anyone looking for a cure.

10. Cowden’s Syndrome isn’t fun, but when it comes to rare diseases, we are some of the lucky ones.

We support, and get our information from Their slogan is “Hope it’s in our Genes.”

That “play on words” is why we wear denim, and denim ribbons today.

lori and meghan

In addition, because maybe there was a chance I couldn’t get any more proud, she received a book assignment from school.  She had to write a story where the main characters were two dogs named “Casey and Bella.”  She decided to write about what meant something to her.

Back cover
Back cover

I have no idea who will win, but you know who gets my vote.

Everywhere she goes, she seems to take an opportunity to tell someone about Cowden’s Syndrome.  She says people need to know.  She uses our necklaces to start all sorts of conversations.

Two of a kind
Two of a kind

She dreams that one day they will be as common as the “pink ribbon,” or the “puzzle piece.”

I think she is just the girl to make it happen.

Someone in one of my online groups asked if we knew anyone famous with Cowden’s Syndrome.

Does… I know someone trying to make Cowden’s Syndrome famous count?

I love my little girl!

Thankful for… that first piece of pie!

I was going to avoid boring everyone with the same drivel that has been written over and over today, but I couldn’t resist.

It’s hard not to think about what you are thankful for on a day earmarked for reflection.

So, here it goes…

I am thankful for my husband.  He stays behind the scenes all the time.  He never looks for the credit in anything we do, yet he is the driving force behind our marriage and our family.  He knows when to make me laugh, and when to hold my hand.  I am not sure how I could have gotten through this year (or the 12 before it) without him.

I am thankful for my daughter.  She reminds me every day what is important in life.  She inspires me to push through adversity, and to keep on going – even when the going gets rough.  We share a lot (maybe more than I would like… darn Cowden’s Syndrome) and I could not ever ask for a kinder, more compassionate, loving daughter.  Even on the days we go head to head – I am the proudest Mom.

I am thankful for my “furry children,” my Allie and Lucky.  Their unceasing loyalty, their love and companionship bring such joy to all of us.  Plus – there is nothing like rubbing a belly on a stressed out day to make you feel better!

I am thankful for my parents, and their “being there.”  Sometimes that’s all you need is for someone to be there.

I am thankful for my siblings… all of them so very different, yet all so incredibly important to me.  I am thankful that even on the days we don’t see eye to eye – our love is strong,

I am thankful for my nephews, and the joy they bring, just by being themselves.

I am thankful beyond words for my grandparents.  Their support through these last 39 years, has been pivotal in my development as a person.  I am certainly a better, wiser, stronger woman – having learned from their example.  I continue to learn from them each day; lessons of love and compassion.  Not many people my age are so fortunate. 

I am thankful for my home – more this year.  I celebrate the fact that we passed through “Superstorm Sandy” virtually unscathed.  I am prayerful for those who have lost so much, and I am trying so hard -to recognize the “small things.”

I am thankful for my friends – near and far.  I am thankful for my local friends, my college friends, my friends from work.  I am thankful for the friends I see often, and the ones I hardly see at all.  I am thankful for my “cyber” friends, that I have “met” through support groups, and this blog.  The joy of knowing you are not alone can never be understated.

I am thankful for my health.  I know that may sound strange, considering the whole premise of this blog is about a genetic disorder that compromises the health of myself and my daughter – but hear me out.  I have this year alone undergone 2 major operations, and recovered.  I survived breast cancer without ever needing treatment.  I am able to walk, to run, to care for my child, to exercise, and move freely about my world.  While I have health concerns, and Meghan and I will always have them – I recognize how much health we do have, and I am thankful.

Finally, and the one thing that brought the biggest smile to my face all day – I am thankful for my daughter’s first piece of pie.

Meghan has always had food allergies – gluten, dairy and soy.  This year we made her a pie by rolling out her cookie dough as the crust.  We filled the middle with coconut milk ice cream, and topped it with her syrup.  She was so excited.  It wasn’t until I cut her a piece and she asked me how she was supposed to eat it, that I realized she had never had pie.  Sometimes the little things – are the big things!

Happy Thanksgiving one and all.