“Next Year…”

We left the house today with only the normal jitters.  We even had time for a few family photos.

rare meg

Rare Meg and Felix

rare mom and meg

I have been teaching for 16 years.

I have addressed hundreds of students, if not thousands through the years.

I pride myself on being able to get their attention with minimal effort, and keeping it in most cases.

Sometimes it can be a bit more trying – like a full auditorium, as opposed to a closed classroom, but with the right presence and message, it can be done.

I did not get to hear Meghan’s speech today first hand.  I was thrilled to see her happy smile when I picked her up.  I knew she felt it had gone well, and that was most of the battle won.

While she was doing her homework I watched the recording her para had kindly made for me.  I was awestruck.

Not only was I impressed with my little girl, and the clam, confident way she spoke, I was AMAZED by the quiet in the auditorium.

Now I know they are taught good manners, but this went beyond that.  She HAD them.  They cared about what she was saying.  They were interested to learn about Cowden’s Syndrome.  They were hanging on her words. The applause at the end confirmed it.   She nailed it.  Public speaking is not an issue for my girl.

The day followed with a Skype call to her friend Connor in Colorado.  They struggled with the video feed, but they had audio and will try again next week for the video.

I know its only the US, but “Rare Disorders without Borders” here we come!

Rare disease logo 2013

HUGE smile.  Giant fatigue.  Her day was a success.  And now, tomorrow, she will give her speech all over again to the 4th and 5th graders – her peers.  May it run just as smoothly!

Meanwhile, back at my school – the ribbons were distributed.  The jeans were on.  The kids were charged.

Many of them even decorated their doors with the Global Genes Project – denim ribbons.  This was a huge school spirit event.  I received cards, letters, and even a pack of thank you notes from one class.  It was beyond touching to see my colleagues, supervisor, and students, all in their jeans with their denim ribbons.

rare door 3

rare door 2

Rare door

“Hope it’s in our Genes”

We clearly are not alone.

My Mom and I
My Mom and I

All day long the photos came in.  My Facebook page was hopping.

My nephew’s PreK staff on Long Island, my friend’s Catholic School on Staten Island, a few ribbons to a local HS, junior class at another school wearing theirs to support a family member.  My sister had hers at work, and so did some dear friends.

“Next year…”

Next year can we do a fund raiser too?

Next year can we involve more schools? Maybe all of Staten Island?

Next year…

I got tons of requests, and offers of help.  We know LOTS of really great people.

Next year, maybe we will help raise awareness even more.


But this year, tonight.  I am tired.

I am grateful.

We are smiling.  We are blessed.

Right now, Tylenol for her pain.  TLC for her nerves.

There will be time to plan for next year…

This is it!

Yesterday was another trip to the rheumatologist.  She is lovely, but hasn’t a bit of a clue why Meghan’s pain persists – often through the Celebrex, and ALWAYS without it.

She prescribes the medicine.  She examines her.  She sees no signs of Juvenile Rheumatoid Arthritis.

We speak for a little bit about Cowden’s Syndrome, her thyroid, and some of the other battles she has endured.  I ask the doctor if this could all be related.


And she, candidly, honestly replies, “I don’t know.  I am starting to think there is some link, but I don’t know enough about your syndrome to put it together.”

Well at least she is honest.  But it is tiresome.  The traveling.  The doctors.  The lack of answers.


So tonight, as I gave Meghan Tylenol after swim practice because the knee pain wouldn’t cut her a break.  We turned our thoughts to tomorrrow, and the 6th Annual World Rare Disease Day.

Rare disease logo 2013

This year’s motto is “Rare Disorders without Borders.”  It got Meghan and I to thinking about how nice it would be if doctors in all the countries would share their research.  There are so many rare diseases throughout the world.  So many more dire than our own.  There are so few people even looking for cures.  As she chats and gets to know a girl in Australia with Cowden’s, we can’t help but think about how much more voice each of our disorders would have “without borders.”

http://www.rarediseaseday.org/solidarity (This link takes you to a video on Rare Disease Day)

We talked a little about the newspaper article, and how it has helped spread awareness in out community.  We talked about all the ribbons we have made and distributed, and how nice it will be to see them tomorrow, and know we are not alone.  We have raised awareness of Rare Diseases, and we have only just begun.

http://www.silive.com/northshore/index.ssf/2013/02/staten_island_9-year-old_and_h.html (This is a link to our article from the SI Advance – February 20th)

Meghan, and her determination will see her dream of the “One of a kind” necklace with the Global Genes Project Logo, find its way into their new store.  She will see more and more people recognizing that “Hope is in our Genes,” and the denim ribbon gives an identity to those who too often have none.

Meg necklace

Tomorrow people will understand what it means to “Wear That You Care,” as they don their jeans locally and globally.

Rare_Disease_Day_Logo_2011-1024x968 2

My daughter, one of the compassionate people I know, is also the least judgmental.  She is kind.  Because she knows what it means to need kindness.  She is kind because she has faith, and wisdom gifted to her.  She is kind because, “You can’t tell by looking at someone if they are sick or in pain.”

chronic illness shirt

We share a genetic mutation.  I am her mother.  She is my role model and my hero.

She makes me a better person.

Wear your jeans – February 28th, 2013.

Meghan Speaks Out!

Maybe tonight I would have to call Meghan the “Guest Blogger.”

What you read below is her speech.  She was asked to prepare something to read for her school for “Rare Disease Day” on Thursday.  She is an excellent public speaker, and fights only a few “butterflies” before she speaks.  She always makes me so proud.  I wish I could be there!

Rare_Disease_Day_Logo_2011-1024x968 2

The text of the speech was written by her.  I typed it, and then she went back in and changed it again.  I added the pictures… just for here – because I like to!

She will review the speech with her principal tomorrow, but I don’t expect many changes.

When did my baby grow up?


Some of you, who know me, know me as Meghan Ortega.  Or, maybe you know me as Meghan from 4th grade, or Meghan from Mrs. Worsdale’s and Mrs. LaMonaca’s class.


You might, if you know me a little better, know me as Meghan who loves to read, and swim. You might know me as Meghan who loves dogs.


Maybe you know that I have 2 dogs that I love, and a mom who is a teacher and a dad who is an electrician.


Lucky, Meghan and Allie - My three girls
Lucky, Meghan and Allie – My three girls

But, until today, very few of you knew that I am Meghan Ortega and I suffer with a Rare Disease called Cowden’s Syndrome.

lori and meghan

Until September of 2011 I didn’t know I had this Rare Disease.  What I did know was that something was wrong and my body was far from that of a “normal” kid.

For as long as I can remember, every week of my life has included AT LEAST one doctor’s appointment, and lots of times even more.


You’ve all been to the doctor and you know it’s not fun.  It involves waiting and waiting…and even more waiting.  It also involves poking and prodding. For me, it often means being sent to more and more and more doctors…


My mom says when I was a baby I wasn’t really comfortable, and I cried all the time.  I almost never slept, and wouldn’t drink my bottle.

When we talk about it now, we think my body knew I couldn’t handle dairy products, and dairy is in milk.

Mom also tells me that I started seeing lots of doctors when I was just a few weeks old.  Soon there were doctors to check almost every part of my body.

I have had 9 surgeries.  I remember having my gall bladder out before I turned 4.  I also had a lipoma (a soft tissue tumor that people with Cowden’s Syndrome get.)

I had knee surgery 4 times for an AVM in my right knee.  An AVM is a vascular malformation.  It is also common in Cowden’s Syndrome.  It feels very strange because it pulses like your heart beat. Every time I had that surgery the doctor thought I wouldn’t need another one.  But they have already done 4, and they are not sure if the AVM will ever go away, so I will probably need more.


Because I am in pain so much, I get physical therapy in and out of school.  My outside physical therapist, Dr. Jill told Mom that she should take me to see a geneticist. I didn’t really understand what that was, but we went because that is just what I do.

Dr.Pappas at NYU was really nice.  He examined me and he talked to me and mom.  When he was done he drew some blood.  He said he was pretty sure of what I had, but we had to wait for the test results.


In September of 2011, just as I was starting 3rd grade, we went back to his office and he told us that I have Cowden’s Syndrome.  It means that my PTEN gene is broken.  Your body is made up of all sorts of genes, but these are G-E-N-E-S, not J-E-A-N-S like the ones you wear.  PTEN is the gene that keeps your body from growing tumors.  Because mine is broken I get more growths, like the AVM, the lipoma, and the nodules on my thyroid that I have to have checked every 6 months.

As soon as I was diagnosed, the doctor talked to my mom and said she probably had Cowden’s too.  He took her blood and a few weeks later she tested positive.

making strides 1

Because of the Cowden’s my mom had lots of tests done, and it explained a lot of things about the 17 surgeries she has had.  On March 5th it will be a year since she had surgery for breast cancer.  She is just fine.  She says that knowing she had Cowden’s helped her find it early.  She says to everyone that my diagnosis saved her life.


When I am here at school I smile a lot.  I don’t like to dwell on anything bad.  We spend enough time with doctors so I try to enjoy my time with kids.

You would probably never know by looking at me, that I am in pain a lot.  I take medicine every day that helps my joints hurt less than they used to, but still most days I have pain.  It is hard for me to climb up the stairs, and play at recess, but I do it.


We first heard about “World Rare Disease Day” last year, but at the time we were a little too stunned to do anything about it.


This year I told my mom I wanted to do something to make people more aware of Cowden’s Syndrome and all rare diseases.  I was not ready yet to do a fund raiser – I just wanted to get the word out that Rare Diseases like ours exist.  There are over 7,000 of them!

I shared my idea with Mrs. Manfredi and she said I could give out the ribbons and information you received today.  I was really excited.

“Hope it’s in our genes” is the motto of the Global Genes Project.  They try to raise awareness and find cures for all rare diseases.

denim ribbons

Today I think it’s important for you to know you can’t ever really judge someone by how they look on the outside.  You never know what’s going on inside of them.


Be kind.

Be aware.

Rare Diseases are everywhere.

Thank you

** By Meghan – Age 9!


This one’s for you Mom – HAPPY SWEET 16!

celebrateThis one’s for you Mom.

My Mom doesn’t have Cowden’s Syndrome.  The tests confirmed that.

What she does have is strength, stamina, and courage unrivaled by most.  She is a tough cookie.  An inspiration with her determination.  Not once throughout her life have I ever known her to give up.

Mom is a survivor.

Long before she was a breast cancer survivor, she was a survivor of life.

She survived a divorce, two jobs, and raising 2 kids alone – with the help of my grandparents.

She survived sleepless nights, and worry.

She battled for her kids- fought doctors, insurance companies and the like. And, she even battled  with us on occasion… If you can imagine that!

Long before she was a breast cancer survivor, she was my Mom.  And she taught some valuable lessons I still use today.

(My sister posted the other day that “Some days I open my mouth and my mother comes out!”)

These are her words coming out of me these days….



But God is good - all the time!
But God is good – all the time!


I really think I am OK with this concept, but we all need a reminder sometimes!
I really think I am OK with this concept, but we all need a reminder sometimes!

When my Mom was diagnosed with breast cancer I was 23.  I was scared.  She might have been scared, but she attacked it with her “matter of fact” attitude that I think is what has gotten her so far.

She went for her first mastectomy on February 24th of 1997.  She was just 48.  The second mastectomy followed in April when cancer was found in the other breast.  6 months of chemo followed.  5 years of Tamoxifen followed that.

And she just kept right on going.  Even though some days she felt like this…

several days at once

Truth be told, maybe we all did.  But I did what I could to help out with her, around the house, and with my little sister.  I was really just amazed by her drive.  But I think I still am.

Last year when I was scheduled for my mastectomy, the surgeon asked me who had been with my mother during hers.  I told her my dad and I had.  She said, “Well call mom and tell her its time to return the favor.”

I called her on the ride home and although I can’t imagine it was an easy call to take.  She never flinched.  She took the week off that I had the surgery (a HUGE compliment from someone who sparsely misses a day of work.)  My recovery went so smoothly.  And I had some of the best conversations of my life with Mom that week.

When my pathology returned DCIS, she was the first one I called.  Neither of us were surprised.  And, yet her reassuring words, that she knew I had “done the right thing,” gave me such peace.

Before Mom was diagnosed she dreaded turning 50.  After all she had been through she embraced 50 with grace and charm, and a few years ago gave 60 a great big hug.

Mom's 64th birthday - and 4 generations of tough ladies!
Mom’s 64th birthday – and 4 generations of tough ladies!

This is a picture from her 64th birthday a few weeks ago.

My mom may not be like everyone else’s.  She can be a tough lady.  She hasn’t had an easy life.  But she has a heart of gold.  And I love her for who she is.

As I grow I realize everyone does the best they can with what they have where they are.

I am thankful – so thankful – for these last 16 years with my Mom.  I am grateful she got to know my daughter.  I look forward to having her around for a long time.

A mother bonds with all her children, and she is close with my sisters – differently than how we are close.  That’s what makes each relationship special.

We share some things that can’t be put into words…

Just past the finish line.  Aren't we "Pretty in Pink?"   :-)
Just past the finish line. Aren’t we “Pretty in Pink?” 🙂

She will always be my friend.  I hope she knows just how much she is loved.

Happy Start to your 16th year - CANCER FREE!
Happy Start to your 16th year – CANCER FREE!

This is the story… RARE DISEASE DAY!



Hopefully this link takes you to the full article.

Thanks everyone… and I mean all of you.

Lots of people were mentioned in here.  In reality our support network is much larger and includes people we will never meet.

Love you all!



Rare_Disease_Day_Logo_Hope_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.

“To raise awareness Mommy.”

Meghan has had an affinity for the Global Genes Project since soon after our diagnosis.

Rare_Disease_Day_Logo_2011-1024x968 2As 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!"
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.
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. 🙂

article 3

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.


Waking up before the rest of my family on a vacation day – 2 cups of caffeine.

Filling the car with gas- $50.

Traveling through the Brooklyn Battery Tunnel $13 roundtrip.

Parking for 4 hours – $25.

Two doctor Copays $20 each.

Trip across the Verazanno Bridge… about $6 with my EZpass.

But, the news from the dermatologist that I can stretch the visits a whole year, combined with the news from the breast surgeon that “everything looks great and I will see you in 6 months!”



So we cross small hurdles gleefully.

We had 7 appointments carefully scheduled for this week to avoid time off from work/school.  Three doctors apparently realized last week they have kids at home and cancelled.  So this concise week of appointments will stretch a bit, but I have begun scheduling the 11 doctors and 4 scans I can remember that are due in June/July.

I will do everything in my power to consolidate them.

Cowden’s Syndrome WILL NOT run our lives.

We are actively preparing for RARE DISEASE DAY…. (FEBRUARY 28th – Get your denim ready!)

denim ribbonsUntil Friday when we see the vascular surgeon about that pesky AVM…


Riding a bicycle

life is like a bicycleI was looking for something to describe my mood today, and there it was.  Simply stated by a brilliant man, and there on the “Perpetual Optimism” Facebook page.

We keep going because we have to.

We keep going because if we DON’T, then we will fall.

We keep going because it is the only way to keep our balance.

I am tired.  Tired of running, and sorting, and organizing and doing – all the time.  Tired of working full time, being a full time Mom, and being a full time researcher, full time medical billing secretary, and a full time organizer… of all things.

I am not perfect at any of those jobs, and that frustrates me more.  I want to do them all perfectly, but there is precious little time to pause for fear I might lose my balance.

I am grateful.  For my husband and my daughter.  I was never very good at riding a bike.  Now that I do it full- time, they are my training wheels – always ready to hold me up… just in case.

Listening while distracted

You know the rules and the laws on driving while distracted.  Hands free cell phone devices, watch the road.. etc. etc.


But, what about listening while distracted?

The sermon in church focused on this last week, and honestly, 8 days later it is still on my mind.  A personal challenge to me is to stop listening while distracted.

This is not an easy task.   There are precious few people brave enough to venture inside my mind.  It is quite a mess.  Once you sort through all the noise, its hard to find focus.

The list of thoughts on any given day could include, but are not limited to…

What appointment to we have today?  How many?  What will the wait time be?  When is the next one?

Will we get bad news, or just a 6 month return ticket?

How is Meghan feeling, what is her pain like?

Why does she hurt so badly, and how come no one can figure it out?

Will she feel well enough to participate in her after school activity?

How do we balance school with life?  How do we get all the homework and projects done amidst her chronic health issues?

What about her IEP?

Do we keep the para next year?  Do I need an advocate to help me?  Have any of these people got any CLUE about Cowden’s?

What about the bills?  I know we CAN pay them, but there are quite a few.  How many phone calls do I need to make to be sure that they are all done right?  When will I make the phone calls?

How much will the heat cost this cycle?

Will we need a new roof this year?Can't stop thinking cartoon

Did I update the EZPass account fo the new car after the accident?

What groceries do we need and WHEN do I have to go?

How are Grandma and Pop?  Really?

Will the article for Rare Disease Day represent us?  What about the ribbons?  Will they be distributed properly?  Will the kids – and adults benefit from it?  What if Meghan has to speak at her school?  Will she know what to say?

Why is there so much homeowork all the time?

How am I going to finish this math series with her while studying for Social Studies?

Does any of that TRULY matter for 6th grade, or will they just realize I have a pretty smart kid?

When is the FUN supposed to start?



So, with that many thoughts running through my head (and sometimes more,) how can I ever be an active listener to ANYONE?

Meghan and I are best buddies.  She is a great kid.  But we do butt heads sometimes. 

I have to wonder if its because inside that 75 pound 4 foot 10 body, she also is listening while distracted.

Tonight we will stop. 

We will focus.

We will look at each other.

We will listen carefully.

Maybe we will actually hear each other if we eliminate some distractions.

Her father is very good at clearing his mind – eliminating distractions.  Meghan and I – not so much. 

But how can I hear what anyone is saying if I don’t LISTEN?

I see it all the time in this technology age.  Parents on cell phones, ignoring their kids.  Kids pleading for attention, and to be heard.

I am no better if I let the distractions of my mind get in the way of my conversations with my family.

When I ask God to listen, He does.  When I listen carefully, He speaks.  This I know.

Life is way too short to miss out on what is right in front of me.

I am working on clearing my head and avoiding “Listening while distracted.”

Anxiety- an after effect, or a symptom?

An interesting “conversation” in one of my online groups this week, regarding increased levels of anxiety and depression conected to PTEN mutations.

This is really how I view the race against Cowden's Syndrome
This is really how I view the race against Cowden’s Syndrome

One of those conversations that make you wonder if it is better to be validated or to fight the idea that this perpetual anxious feeling is actually hardwired into your genes.

I looked up the articles too.  I love to read for myself.  The experiments are done on mice.  I suppose there aren’t enough of us to get a controlled group for a good study, (although there is a drug called rapamycin being studied on humans – but that’s for a different day.)  But, among other symptoms the mice in their mazes did show marked increase in anxiety.  Although.  I have to imagine if I was a mouse in a maze I might get nervous too…


Now I have a lot of throughts on this.

I have always been a worrier – highly anxious about most things.  Anyone who knows me knows that to be true.

But, conversely – throughout large portions of my life there has definitely been something to worry about.

CartoonV9991 ChickenOrEgg copy

So, as the chicken/egg thing goes -do I worry because anxiety is a part of Cowden’s syndrome, and even before my diagnosis I have had Cowden’s?  Or do I have acute bouts of anxiety because having Cowden’s gives me so much to be anxious about?

The best answer probably is – both.

I am a rational person by all rights.  Even in the middle of my worst anxiety I can stop and think and KNOW that my fears are irrational.  I can have the absolute belief that God will continue to care for the situation, and for my loved ones, yet still it is often like a crushing weight on my chest, making it hard t0 think, breathe or move.


What I have on my side is that I was raised to keep on keeping on.  Thanks Mom, and Grandma and Pop especially… when the going got tough, we were taught to keep going.  So while I comfort myself with verses about tomorrow having enough worries of its own, and while I am faced with horrendous tragedies of things that cannot be controlled, I am able to press on.

So I can function, and the anxiety does not cripple me.  And, I know the “nature vs. nurture” reasons to explan it. 

But I do know that my daughter suffers too.  Not just with a PTEN mutation, and Cowden’s Syndrome, but also with anxiety.  She is a worrier, “just like her mother” they say.  Yep.  Maybe she is like me because of genetics, or my example.  I can’t really know for sure.

So what to do?

For me, the first step is just acceptance. 

I am a worrier. 

Regardless of the cause, and allthe logical justifications I can give myself – I will remain a worrier.

Then, find an outlet.  I am still working on this one.  I am thinking I like to write – so maybe that will help some.  I would like to get a few minutes to myself now and again.  I used to love to walk.  Maybe one day there will be time for some nice long walks.

I meditate a bit on the bright side.  Be grateful for the “good” that comes with a chronic illness like Cowden’s Syndrome.  I am not referring to the pain, and the surgeries, and the cancers looming, but rather to the “warning” system built in.  Parents would do anything to protect thier children.  How blessed am I that even among the strain of ceaseless appointments and hours waiting at offices and for results, we have a warning system.  I am confident that if we are vigilant, the Cowden’s won’t “get us.”


Stay organized.  Don’t let the bills, the list of phone calls, the shredding, or the sorting to pile up.  It will just keep coming.

Stay ahead of the school projects.  You never can tell where tomorrow is going to land us.

Laugh.  Often.  It is deeply good not only for the anxiety, but also for the soul.

lsughing dog

Recognize you have lots to smile about.

Acknowledge the pain of others and “Pay it Forward” when you can.  I find that  NOT dwelling on our lives here, helps make me less anxious.

Did the Cowden’s cause the anxiety?  Is it hard wired into who I am as a person?  Is Meghan destined to be forever wondering and worrying?  Or, did a life of doctor’s appointments, pain, chronic disease, and general worry, create the anxiety? 

It really doen’t matter because it is here.  It is part of me, and to la large extent – us.  I doubt it is going anywhere.  I think its just my job to control the beast the best way I can, one day at a time.