Cowden’s – Page 25 – beatingcowdens

Cowden’s Syndrome – You’re NOT the boss of US!

Published on March 3, 2013March 3, 2013 by beatingcowdens1 Comment

“You’re not the boss of me!”

Sometimes little kids can be misguided. Sometimes, Mom, Dad, or teacher is in fact the BOSS of them. But that statement from the mouth of a child is the beginning of their move towards independent thought. And, if nurtured properly can lead to a productive, independent, determined adult.

That’s what we are getting at here.

You see I spend enough time around children, that their words and phrases sometimes stick with me. And this one is stuck with me this weekend. So I reflect how it applies to my 9 and a half year old daughter and my 39 and a half year old self.

See, even though Meghan is very good at realizing I am often the BOSS of her, she will not be easily ruled. And while I love her independence, I love more the fact that she remains respectful towards her father and I – and dare I say, all the adults she deals with. She, as an only child has lots of bosses, but I encourage her to rise up against the tyrant that is Cowden’s Syndrome – and she does.

If Cowden’s Syndrome were her boss, she would sit idly by while the pain persisted; in the knees, the ankle, the shoulder, the wrist or whatever joint it currently is attempting a choke hold on.

But, since its not – she goes to dance class on Monday, Swim practice on Tuesday, Music and Movement on Thursday, and Swim Meets on the weekend. She often cries in pain in the hours following these events. But never once does she talk of stopping.

You see, Cowden’s Syndrome is not the boss of her.

Cowden’s Syndrome would have her hide in a corner, ashamed of an “orphan” disease that no one can really understand. But hiding is not for my girl. Instead she asks for a denim ribbon necklace. She learns about the Global Genes Project, she understands “Rare Disease Day,” and she actively participates in the “Wear that you Care” campaign. She makes thousands of denim ribbons, and informational fliers. She gives 2 speeches at her school. She even wrote a book about it. HA! Don’t tell her no one really knows about Cowden’s Syndrome – because she will take it as a challenge, and fix it.

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!”

https://www.facebook.com/photo.php?v=10200149863021946 (To see Meghan’s speech)

Cowden’s Syndrome – with its biopsies and cancer risks would like to leave us terrified. Instead, we are empowered. Meghan got the anesthesia she needed and deserved, to have her last thyroid biopsy with dignity. The terror is gone. We will have anesthesia next time too. And, if the cancer hits – we are ready. We are empowered.

Cowden’s Syndrome – You’re NOT the boss of us.

You certainly don’t rule me. 85% risk of breast cancer – yeah, so? Endometrial cancer? Nope – don’t need that either. Thyroid cancer – half gone already, and checked every 6 months. Melanoma – nope. And annual skin exams just to be sure. Colonoscopy – did that. Clean enough to wait until 2015. My spleen – well. That’s still in limbo. But you know what? Whatever. I have stared down worse.

Just came back from my girl’s first swim meet. Time to relish in the satisfaction that something normal happened here today. We will handle the pain, with the smile of knowing – she’s pretty fast.

I know you’re staying Cowden’s Syndrome. I know we can’t ever get rid of you. But, seriously. Unpack in the basement closet and stay away from us.

Cowden’s Syndrome – You’re NOT the boss of US!

“Next Year…”

Published on February 28, 2013February 28, 2013 by beatingcowdens4 Comments

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

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!

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.

“Hope it’s in our Genes”

We clearly are not alone.

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!

Published on February 27, 2013February 27, 2013 by beatingcowdens2 Comments

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.

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.

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

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.”

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!

Published on February 25, 2013 by beatingcowdens8 Comments

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!

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 4^th 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.

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 3^rd 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.

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 5^th 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.

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 is the story… RARE DISEASE DAY!

Published on February 21, 2013 by beatingcowdens1 Comment

http://www.silive.com/northshore/index.ssf/2013/02/staten_island_9-year-old_and_h.html

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!

Lori

Newsworthy

Published on February 20, 2013February 20, 2013 by beatingcowdens2 Comments

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.

As 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.

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. 🙂

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.

Priceless!

Published on February 19, 2013February 19, 2013 by beatingcowdens4 Comments

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!”

ABSOLUTELY PRICELESS!

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!)

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

Listening while distracted

Published on February 17, 2013February 17, 2013 by beatingcowdens2 Comments

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?

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?

…. AND I COULD GO ON AND ON AND ON AND ON…

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.”

It was NOT the Cowden’s… this time!

Published on February 6, 2013February 6, 2013 by beatingcowdens1 Comment

Insert HUGE sigh of relief here.

We saw the retina specialist. He was a young guy. He took a medical history. He had never heard of Cowden’s Syndrome so he took 15 minutes to read and familiarize himself with it so we could have an intelligent conversation BEFORE the exam. (This is where all my fellow Cowden’s sufferers stop in amazement… yes – imagine that!)

He understood my concerns, especially the vascular ones since the eye doctor saw “something” on the picture of the eye.

Even with her having said, “It’s Probably Nothing, but…,” he still took almost 1 hour start to finish on the exam.

He looked in her eye. He photographed the eye. He tested her eye pressure, and her vision with and without glasses. He systematically eliminated cause for concern, until he was able to say – yes, her vision declined – but I don’t see any ominous reason why that happened.

There is NO evidence of vascular lesion. There is NOTHING to indicate that Cowden’s Syndrome played any part in this one. Instead, it’s a bit of “cat and mouse.” This time we are chasing a different set of genetics.

Unfortunately for Meghan, her father’s family doesn’t carry good eyesight. Seems she got the PTEN mutation from me, and the rotten eyesight from them. Share, Share.., I am not happy about the poor eyesight, but it is a lot more straightforward and less messy than anything Cowden’s related.

Genetics.

Rare diseases.

Over suffered, and under researched. All of them.

Spoke to a Mom, a volunteer at the Global Genes Project.

She was lovely.

She also has twin 9-year-old girls with a rare disease, whose chances of long-term survival are bleak.

The kind of conversation you end wow-ing the other person’s strength, and being thankful for drawing the rare disease card you did.

And this week I am being reminded that your kid doesn’t need a rare disease to end up in dire straights. Young children are snatched from their parents far too soon. In ways that just don’t make sense.

So we pray. A lot.

We can’t fix everything. As a matter of fact we can’t fix most things. So we hope. And we help. The best way we can.

We will make lots more ribbons. People need to know about these disorders. All of them. And once they know, they will help.

We contacted the paper in hoped they will run a story. Every day feels like a story unto itself.

This time it wasn’t the Cowden’s. Thank God.

But there will be a next time. The worry will never cease.

Hold your children tightly. To a large extent we are lucky. We seem to know the beast we are fighting.

Tell them you love them. All the time.

We are going to Disney again. Money well spent.

Don’t look too closely at the backyard, and the deck. Just come spend some time with us. It passes too fast.

And WAY too much of it is spent at doctors, without much reprieve.

Tomorrow we head back to the dentist about those gums…

Dead Poets Society

Published on February 3, 2013 by beatingcowdens3 Comments

The church bulletin this morning had these words from Henry David Thoreau…

Poignant. Especially as I sat, in my “new” church, watching my daughter participate actively in a “Family Friendly” service. They do those about every 6 weeks, in cycles, and I really enjoy them. This one, this week, focused on growing up.

So, as Meghan stood singing, in a small, multi age group, I thought about the backdrop behind her. Initially it still felt “wrong” to me. I somehow expected her to be in front of the church I grew up in; with the same smile, and the same voice. I imagined the picture behind the altar that became ingrained in my subconscious as a youth, and the striking stained glass windows. I was looking for the familiarity of my childhood, even as I myself, and with my family, am still, at almost 40, “growing up.”

Things did not work out. After 38 years that was initially so hard to swallow. I was angry. I was sad. I was generally heartbroken. But maybe it was time. Time for me to “grow.”

For years I prayed for a place where my family could worship together. We have spent 6 months now, almost every week, as a family of three in the pew. The motto of the Moravian Church, “In essentials unity, in non-essentials liberty, in all things love,” speaks to my soul.

I looked at the cross, and the Moravian Star, and I smiled. The backdrop has changed, but not the meaning. “It’s not what you look at that matters, it’s what you see.” She was standing in a different place, but there was the same love, and acceptance I have come to equate with my faith.

When I got home I couldn’t shake the images from “Dead Poets Society.” Quotes from my all-time favorite movie from 1989, with my all time favorite actor, Robin Williams flooded my head.

Thoreau, along with other famous poets wisdom peppered this movie with all the perspective I needed as I high school student. And, now as I “grow up,” decades later, the meaning of the words changes a bit, but the movie “grows up” with me.

And the reality that…

The scene that spoke to the teacher and human in me, as Robin Williams hopped onto the desk…

The reminders that we are to always look at things from a different perspective.

These are the words that shaped my youth. These are the words that give me strength – decades later. I love words, especially straightforward ones that speak to my soul.

In 1989 I thought life was complicated. I had no idea that just shy of 25 years later I would be facing a rare genetic disease like Cowden’s Syndrome, with all its risks, and perils. I could not imagine in my worst nightmares that my beautiful girl would be facing it too. And yet, these words, that became part of me – help give me the strength to endure.

My faith is strong. My understanding of others, and the need to always look at things from a different perspective is a large part of how I define myself.

Growing up. Changing. Doesn’t mean ending, but rather new beginnings.

It may be a while before Meghan is old enough – or even interested in my favorite movie, but I will teach her – one step at a time.