Kid of Achievement!

Today I turned 41.  And while I am incredibly grateful for the gift of life, and for “More Birthdays,” as the American Cancer Society once put it, my birthday holds all sorts of emotional challenges for me.

I have a memory for dates.  And seasons.  And events.  And people.  Especially people I love a lot.  And 23 years ago on this November day, my beautiful 6 year old cousin Meghan was invited to dance with the angels.  Childhood Leukemia weakened her body so, that she was not to stay here physically.  Yet on my 18th birthday I got the gift of the most spectacular guardian angel – and her name and her spirit live on in my girl.  Even with all the good, the day messes with me.  I tried explaining it to my Meghan last night, and the best I could give her was – 23 years become 23 days sometimes.  The pain just gets a whole lot more fresh.

And Grandma, Dad’s Mom got her wings just a few weeks ago.  After 88 years and a life well-lived, it was still tough to see her go.  Not even a year since Dad…

And last November 12th, on my 40th, my Dad was in the middle of what was to be the fight of his life.  We spent it together.  An unsavory appointment, and some legal crap I wish never had to be.

And this year a dear, compassionate, kind-hearted, fun-loving relative sits, so close to the end of his life here on earth.  My heart just gets full.

So, it came as a pleasant surprise last week when my cell phone rang and it was Gina from the Staten Island Children’s Museum, telling me that Meghan had been selected as one of this year’s “Kid of Achievement” honorees, for her advocacy work in the community.  The luncheon was to be held on November 12th.

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“Of course we’ll be there.”  And I couldn’t wait to share the news with her.

We kept kind of quiet while she prepared her speech, and I sent her to school this morning with her backpack and her speech and a pretty dress.  Quite a swap from her typical sweats.

We arrived at the Hilton Garden at 11:15, sized up the room that we will be in for our fundraiser on February 15, 2015, and checked out the raffles.  We met the other honoree, a lovely young woman being honored for her work with Project Homefront.  The tables filled in and the event began.

When Meghan was introduced for this award, her advocacy was the focus.  Her nominee(s) knew her history.  They knew of her work, and her goals.

She delivered this speech with incredible poise.

When my mom got the call that I received this award, I was thrilled.  All of my advocacy began with me wanting to make a difference.  I am so honored, and humbled to realize that I am.

I was diagnosed in 2011 with a rare genetic disorder called Cowden’s Syndrome.  It affects 1 in 200,000 people and it starts from a broken PTEN gene.  The PTEN gene is the tumor suppressor.  The PTEN gene prevents benign and cancerous tumors, but since mine is broken I have a higher chance of getting these things. 

My Mom was diagnosed weeks after me.  A few months after that she was diagnosed with early stage breast cancer.  She had some pink ribbons around the house, and she got a pink ribbon Pandora necklace.

I knew about the gold ribbon for childhood cancer, and the puzzle piece for autism.  I knew there were many others, and that all these disorders had a symbol, and with a symbol comes a voice.  I had many medical issues, and went to the doctor all the time.  I knew there had to be symbol for people/kids like me; kids who’ve had eleven surgeries in eleven years, kids who’ve had countless tests and are treated like human pincushions.  Imagine, all this happens to prevent cancer.  There is no simple solution, only a constant set of routine poking, prodding, tests, surgeries and more!

We kept looking for a symbol.  We found one when we came across the Global Genes Project.  They stand for all rare and genetic disorders, their symbol is the denim ribbon, and their slogan is “Hope, it’s in our genes.”  But, there was not a necklace, no jewelry.  There was nothing to wear to help me show people, and tell the world about genetic disorders.

I asked my parents if we could get something made, and we did.  My parents found a compassionate and caring jeweler who created the mold for the necklace I am wearing today.  We reached out to the Global Genes Project again and again, in hopes they would sell the necklace too. Recently, they put a similar necklace on their market, and I can’t wait for it to become as popular as some of the popular pieces I have come to know.

Rare and genetic diseases are out there.  Most are very rare, but there are over 7,000 of them.  More work needs to be done individually and collectively, to get them the funding they need

In 2013, just about 18 months after our diagnoses, we celebrated “Rare Disease Day” which is February 29th – the rarest day- or February 28th on non-leap years, by handing out denim ribbons at our schools.  We had assemblies, and I got to talk to my peers about what it was like to live with a rare disease every day.

I have had 4 knee surgeries for a vascular malformation in my right knee.  I have a good deal of pain in my body, there, and pretty much all over.  Some days I feel great, and other days I can’t get too far.  One day in the spring of 2013, my mom was pushing me in a wheelchair to an appointment.  I was annoyed by the number of people staring at me and talking about me.  I heard things like, “lazy,” and “she’s not sick.”  I decided I could be angry, or I could do something.  While I definitely spent some time through the years being angry at some of the things – like running- that Cowden’s had taken from me, I decided instead I was going to DO something.

That night my Dad helped me design a business card that very briefly explains Cowden’s Syndrome.  I have handed out hundreds to those who stare, and to those who just care.  I like to spread the word, one card at a time.

This card was created out of her need to "teach" others about Cowden's Syndrome.
This card was created out of her need to “teach” others about Cowden’s Syndrome.

This year, right before Rare Disease Day in February, I had my thyroid removed.  Thyroid cancer is very common in young people with Cowden’s Syndrome.  My thyroid had been watched since my diagnosis, and it went from having 4 nodules in 2011 to 16 nodules and 3 precancerous tumors in 2014.  I was fortunate, but the surgery was rotten, and it has been hard getting the medicine quite right.  I have been called a “Previvor,” which is someone who has an organ removed before the genetic cancer that is looming has a chance to strike.

This kid is clearly a "FORCE" to be reckoned with!
This kid is clearly a “FORCE” to be reckoned with!

This year, for Rare Disease Day, I decided to raise some money.  We sold T-Shirts at my school and we had a fundraiser.  The money all went to the Global Genes Project, and it felt really good.

At my old school, in February, I also met the Borough President.  He took such an interest in my story, he made me feel awesome.  I have visited Borough Hall a few times, and love talking with him.  He has encouraged me to keep dreaming bigger and I will.

Two weeks ago my Mom and I signed a contract with the Hilton for a fund raising breakfast on February 15, 2015.  We will be raising money for the Global Genes Project, and the PTEN foundation.  The PTEN foundation is a new organization, working just for PTEN disorders like Cowden’s Syndrome.   We hope to have raffles, and T shirts for sale.  We plan to have music and fin.

We set up ticket sales through eventbrite, and we called it “Beating Cowden’s First Annual Jeans for Rare Jeans Fundraiser.”  Sales are open to anyone who wants to come support two great causes.

I am on a mission to spread awareness and raise funds for diseases people know too little about.  I will not be satisfied until each of them has the recognition they need, and the cure they deserve.

Thank you again for this award, and for encouraging me to continue my mission.

Here is a video of her speech.

And when she was met with a standing ovation there were tears in my eyes.  Tears of pride.

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One after another people approached her, and complimented her.

Not a single one would have known the strength it took for her to walk in the room today.  The pain was unbearable.  But she did it.  With grace and a smile.

And in addition to the compliments, there were offers to help.  Real, genuine offers.

We will Email some of our new friends tonight.  And with their help, in February we will blow this fund raiser out of the water.

Kid of Achievement indeed.

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World, you haven’t seen anything yet!

Here’s the link to our local paper….

http://www.silive.com/westshore/index.ssf/2014/11/staten_island_childrens_museum.html#incart_river

 

And while you’re at it – book your tickets for February 15th!

https://www.eventbrite.com/e/beating-cowdens-first-annual-jeans-for-rare-genes-fundraiser-tickets-14130024283

 

4 Doctors and a Dog Surgery

Before the school year closed my principal told my daughter to do whatever she had the urge to this summer.  Knowing she was a good kid, she understood his meaning.  He told her to play hard, and not worry about getting hurt, or hurting.

When I shot him a look, he laughed and ignored me.  Speaking right to Meghan, (referring to an event at school last June where she climbed a rock wall and ultimately needed hand surgery) he asked her if she would climb the rock wall again.  She said, “Definitely!”

He smiled at her, knowing he had left his mark in the just over a year she spent at our school.  Her confidence was up, and she knew the satisfaction of completing a task, and sometimes even winning – far outweighed the physical consequences that simply seem an inevitable consequence of being her.

And yes they are all about the same age, mine's just REALLY tall!
And yes they are all about the same age, mine’s just REALLY tall!

 

 

Turns out that very conversation was replaying in her mind as she was first to cross the finish line in the “Fun Run” this morning, held annually in memory of my cousin Meghan, her namesake.  The pleasure in her eyes outweighed all other things as she held it together long enough to get in the front door before she asked for ice.

Reminding me today as educators we shape lives in ways deeper than the classroom.  I am grateful…

school closed

Meghan needed this morning.  As a matter of fact we needed it – so badly that I think even the rain knew.  And maybe my Dad, my cousin’s “Uncle Tom,” was able to push those clouds out-of-the-way for a while.  His angel wings are 7 months strong today.  I think we got a special favor.

angels

It’s hard to believe we’ve only been out of school for a week.  My head is spinning.

Monday was the rheumatologist, full of confusion, still perplexed by pain without swelling that plagues so much of her body.  We spent hours, and arrived home minus a copay and with little to show for the trip.

Tuesday morning as we prepped for the GI, fortunately a local appointment, I got a call from the vet.  “I know Allie is scheduled to have her teeth cleaned tomorrow, but we have a cancellation.  Can you bring her today?”  All about getting things done, I got the dog in the car and dropped her off for a dental cleaning.

Of course, I left in tears because as tough as I want to say I am about the dogs… I am who I am.

So when they called me a bit later to tell me she would need 5 extractions, my heart almost stopped.  But, there was little choice so I consented.

We headed to the GI and had a pleasant visit there.  It’s always easy when things are going well, and generally the stomach is so much better since that stint in the hospital in May that we are clearly headed in the right direction.  We left with an appointment in 6 weeks, and told we could slowly, and carefully start reintroducing some of the foods stripped from her already restricted diet after the diagnosis of severe gastritis.

I picked the dog up a bit later that night.  And her pain medication, and her antibiotics, and as I was leaving even full of relief to see her, it was hard to tell what was whimpering louder, Allie, or my Visa.

 

Ouch!
Ouch!

Wednesday another local visit, this time to the orthodontist.  And instead of getting the news that the braces are ready to come off, she left  with more rubberbands.  The initial projection of having them removed in February seemingly a distant memory, and more conversation about her teeth and how “unpredictable” they are.  Why not? So to make sure that they don’t move too far in the wrong direction – we get to go back in 2 weeks, then in 4.  We’ve got time I guess.

Thursday, after feeling confident that the dog was on the mend, we left for the endocrinologist in NYC.  A somewhat productive conversation at least led to a mutual agreement that the synthetic medicine may not be working for her.  Her fatigue, I was told, “may not” be associated with her insanely elevated blood levels.  We’ll get the labs on Monday.  Two more 6 weeks cycles for the levels to regulate.  Then we try something new.  12 weeks is a long time to look at continuing to feel less than your best, but at least we left with a more open-minded doctor than when we started.

“This is getting old.”

I’ve heard that phrase a few times from my normally happy, easy-going kid.  At 10 years and 11 months she knows chronic pain, needles, surgery and waiting better than anyone should.  When she asks about my childhood, and I tell her that I also went to quite a few doctors, (although not as many as she does,) she tells me I am “lucky I didn’t know I had Cowden’s Syndrome.”

And as I am left to ponder what it must be like knowing more about genetics and your broken PTEN gene than you might ever want to, I think about how hard it must be.  The thoughts that go through her head, the level of her vocabulary, her insight.  So much to absorb, so much maintenance.  She gets that she’s lucky in some ways, but overtaxed in others… it is so easy to forget that she’s not even 11.

That is why mornings like this one have to happen.  That is why she has to sometimes taste a little bit of victory, when she feels like the challenges might swallow her up.  That’s why she has to run as if she has no pain.  That’s when she gets to be a kid.

fun run 1

This was the worst of it – this week, for doctors.  This was my worst scheduling job by far.  On the 14th she has one and I have one.  Then on the 15th I have 4. (Genius!)  And after that things lighten up considerably.

This week I settled some paperwork that has been lingering.  I fought over medication with the pharmacy.  I began the process of organizing a few very chaotic things.

Today we got to see some family.  Meghan got to hug three great grandparents, two of which are in their mid 90s!  We got to chat and to eat and take a break.

Tonight we will sit with a sweatshirt and watch the sky for fireworks.

Tonight I will thank the angel who moved the clouds away this morning.

Come on summer – we are READY!

Rare Disease Day 2014 – Through Meghan’s Eyes

Yesterday, our local paper published an article about Meghan and Rare Disease Day.

http://www.silive.com/news/index.ssf/2014/02/post_738.html

Today, the Borough President came to our school about a 4th Grade reading program, and was so interested in Meghan’s story he took the time to talk to her.  She was so thrilled by his genuine nature, and his true interest in her.  Not too shabby of a smile for a kid just 2 weeks post op from a complete thyroidectomy!

Meghan chatting with Borough President Oddo!
Meghan chatting with Borough President Oddo!

Today,  Meghan addressed the school about what it was like to live with a Rare Disease.  She spoke eloquently and passionately.  The students were phenomenal.  She was exceptionally BRAVE.

This is her speech.

Living with Cowden’s Syndrome

Every day I have pain.  Cowden’s is a Rare Disease that never gives you a break and always keeps you on your toes. Cowden’s is a blessing and a curse. I am grateful to Cowden’s, for it has made me who I am today. Cowden’s is also a curse, to have to go through what I do. I DON’T want others to have to do what I do. NO ONE should have to endure the countless doctor’s appointments, tests, hospitalizations, and surgeries that a person with Cowden’s Syndrome has to endure. 

Today is February 28th. To many people today is just Friday, but to others, February 28th is Rare Disease Day. Rare Disease Day is to raise awareness about Rare Diseases world wide.  Rare Diseases are an issue. 50 percent of Rare Diseases affect children. 300 million of the earth’s population has a Rare Disease.  There are over 7,000 Rare Diseases and less than 400 treatments with, currently NO CURES! With Rare Diseases you need all different types of treatments.  Treatments and surgeries can be helpful, but they don’t fix the problem permanently.  Rare Diseases aren’t contagious. If someone in your family, or a friend of yours, has a Rare Disease, that doesn’t mean that you will have one.

We chose the movie BRAVE for tonight’s movie night on purpose.  When you have a Rare Disease you have to be brave.  Individuality is very important. No matter who you are, EMBRACE it and  be BRAVE.  Be an individual. Being BRAVE is about not being scared to be you. Don’t just follow other people. BE a leader, be BRAVE! You are who you are so why not recognize that and make the best of it? Explore and be BRAVE. 

 Until September of 2011 I did not know I had this Rare Disease, or ANY Rare Disease. All I knew was that my body was far from NORMAL.  All I could do was be BRAVE. Every single second of every single day all I CAN do is be BRAVE. You never know what is lurking around the corner. All you can do is prepare yourself and stand up tall against all odds. All you can do is be BRAVE. 

Once I learned that I had Cowden’s Syndrome I researched it. It means that my PTEN gene is broken. Your body is made up of all sorts of G-E-N-E-S not J-E-A-N-S like the ones you wear. PTEN is the gene in your body that keeps your body from growing tumors. With a broken PTEN gene, I learned that my body was more likely than other people’s to grow tumors, and that sometimes those tumors could be cancer.  Imagine how scared I was, and how I needed to be BRAVE. Cowden’s Syndrome has different versions of the same symptoms on each person. 1 in 200,000 people have Cowden’s Syndrome. Another thing I thought was interesting was that 80 percent of rare diseases are from genetic origin. 

 I’ve always wanted something to represent me. I knew there was the gold ribbon for Childhood Cancer, the pink ribbon for Breast Cancer, so on and so on. I NEEDED something to represent me. That is why I have this first of a kind denim ribbon necklace. It is the first of its mold and has a ONE OF A KIND inscription on the back. My mom and dad have one too.  The support I get from my family is incredibly inspiring.  I REALLY want to make more people aware, as you can see. 

 All you can do with Rare Diseases can do is be BRAVE. Look danger, sadness, disappointments, and diagnoses in the face. Be prepared. Don’t let it break you. For each and every Rare Disease, stand up to the challenges it brings, and don’t let them break you. Let it make you stronger.

 When I’m here at school I put on a mask. A mask of happiness, of making people think that I can brush everything away. No one knows that under that mask is a girl with the weight of the world on her shoulders. All I can do is be BRAVE. I cannot do what everyone else can. I struggle to fit in and find acceptance in the world. All I can rely on to make me smile and laugh are my friends. They are part of the reason that I can keep up the mask. I will never let anyone know what I think. That is who  I am and what I do. NEVER judge someone by what they look on the outside. I am a perfect example of this. 

        Be KIND, be AWARE, Rare Diseases are EVERYWHERE!

And then – as if I wasn’t proud enough…. she put this video together all by herself….

Such a proud Mom!  Spreading the word…. LOVE this kid.

Can’t wait until tomorrow for MOVIE NIGHT!

Catch-22

catch-22 is a paradoxical situation from which an individual cannot escape because of contradictory rules.[1][2] Catch-22s often result from rules, regulations, or procedures that an individual is subject to but has no control over. 

-Wikipedia

 toxicworld

You know a person could go crazy trying to keep themselves free from toxins.  These days it seems to be an all consuming, and virtually impossible task.  Sometimes I wish I knew a lot less.  Sometimes maybe ignorance is bliss.  And cheaper.  And a LOT less stressful.

But then again, I think my girl would be a whole lot worse off.  And therein lies the “Catch-22.”

Meghan has been seen by a “biomedical specialist,” (insert voodoo, witchcraft, flawed medicine – whatever makes you happy) since she was about 2.

Back in the summer of 2005 things were definitely NOT ok here.  I knew it deep down where that Mommy gut nags at you.  We had speech therapy.  We had occupational therapy.  And we had a child who had already been hospitalized twice with chronic viral infections, was not sleeping, was not playing, was not talking, and was most of the time flat out uncomfortable.  We also had a vast array of doctors who dutifully collected my Co-Pays and did absolutely nothing but tell me they “didn’t know.”

So, I read.  I researched.  I altered her diet.  I added some key supplements.  I started to see results – but not enough.

This doctor, whose office we just left a few hours ago – over 8 years since our initial meeting- got to know Meghan.  He told us he could help.  And he has.

We have worked together through dietary interventions.  Supplements.  IV treatments.  Countless blood tests.  And, when we needed it – Xrays, and guidance towards the diagnosis of “milk of calcium” of the gall bladder at age 3.5

He has been my sounding board through lots of ups and downs.  I have never, and will never take any one person’s word on what I should do for my daughter – doctor or not – but he is one of the opinions I value highly.

He had the gumption to prescribe digestive enzymes after YEARS of horrendous stool and horrific stomach aches.  “We don’t need to biopsy the pancreas. Sometimes we just need to use our heads to see what works.”  Not too often these days will you find any medical professional with that confidence or drive to do what is right.

Through the years we have visited his office at least 3 times a year for lengthy consultations.  He has suggested countless things to help aid Meghan’s immune system, her pain, her tendency towards chronic fatigue.  I have listened to many, and ignored a few.  Conversations have evolved over the years as we have each stayed up to date on current research.

The initial diagnosis of Cowden’s Syndrome seemed to bother him a great deal.  He was bothered by the ramifications of the syndrome, but also by the fact that there was no way this was “all of it.”  Meghan “doesn’t fit in a box,” he would always tell me.  Never let them try to put her in one.

And, perhaps truer words have not been spoken.  As we have navigated the world of Cowden’s Syndrome, I have been acutely aware that there is still “something else.”  But, since we are yet to put our finger on it – we continue doing the best we can.

Cowden’s Syndrome involves screening tests.  Regularly.  For cancer, and vascular malformations that can form anywhere at any time.  X-Rays and CT scans are discouraged because of radiation exposure and a fear that cells can be “tripped.”  So MRI is the test of choice.  MRI with contrast that is.  Gadolinium to be exact.

I’ll get back to why that is important in a bit.

We have spent the last 2 years especially, (but really the last 5 or so for Meghan considering the AVM in her knee was discovered LONG before the Cowden’s Syndrome diagnosis) being scanned.  In July Meghan had an MRI ordeal that involved 4,000 images, 3 hours, 2 tubes, and 3 doses of contrast dye.

We have spent the last few years dealing with a rapidly growing child whose pains seemed to be increasing exponentially.  We have gone from treating with Advil to treating with 200 mg a day of Celebrex.

We have spent the last few years trying to help her stay calm- only to watch her anxiety mount.  In September she was diagnosed with Alopecia Areata– an autoimmune condition that causes hair loss.  Fortunately for us it seems to be contained to a small area, but it is an unnerving diagnosis still the same.

We understand the role of autoimmune disease and stress, and toxins.  We understand the role that stress can play on a genetic mutation of the PTEN (tumor suppressor) gene.  We understand that there is external and internal stress.

We do what we can to control stress on the body.  We make sure she has “down time.”  We try to help her get rest.  We got her involved in swimming, a sport she loves. We make sure she eats a largely organic diet free of the foods she can not tolerate like gluten, dairy and soy.  We eliminated almost without exception preservatives and dyes.  We bought new pots and threw out the plastic plates we used to use sometimes.

We started giving her ISAGENIX, the organic superfood that is as pure as I seem to be able to find.

And even at that – there is an awareness that we can NOT control it all.  There is an awareness that by whatever mechanism that is broken, our girl does NOT detoxify properly.  We are aware of toxins in the air, in our soil, and even in our filtered water.  We are aware that her body is confused by this world we live in, by the GMOs that are even hidden in her organic diet.

GMO safety-testing

We run, like Indiana Jones, out in front of the boulder, in constant motion.  One stride ahead…

Chelation

Chelation therapy is a proven treatment for lead poisoning and poisoning from other heavy metals.

http://www.cancer.org/treatment/treatmentsandsideeffects/complementaryandalternativemedicine/pharmacologicalandbiologicaltreatment/chelation-therapy

The term has been spoken over and over again by the “bio medical doctor.”  Chelation is the concept I found every single excuse to overlook and ignore.  The idea  shook me to my core.

The turning point – Alopecia Areata and the words I had heard him say to me for years, “She is primed to become an autoimmune train wreck.  Let’s try to clean her out.”

toxic

She went for her first treatment last month.  After the treatment there is an 8 hour urine test to measure the toxic metals excreted.

She went for her second treatment today and I got to look at the printout of last month’s urine analysis.  So, even as I held her, and she wailed in pain, and two veins rolled before they got a good one, my resolve was strong.

There are several metals that were high.  None of that made me happy.  But the most disconcerting of all…

The reference range for that MRI contrast dye Gadolinium I mentioned earlier is <0.4.  Her output was 190.  No I am not forgetting a decimal.

Gadolinium.  Necessary for the cancer and vascular screenings set to be part of her life forever.  Except apparently her body can’t seem to excrete it.

Toxic metals

Catch-22

Keep Swimming…

 

 

Prophylactic Bilateral Mastectomy – Not just for the movie stars

I have been busy this week – working a on a few new projects.  Trying to find some distracting hobbies.  I need a few things to every once in the while take the focus off the imminent cancer risks plaguing Meghan and I every second of every day.

So, I started talking a lot about Isagenix, the product that did so much to give my husband back his health, and to help him lose over 30 pounds in the process.

This week I have signed up four friends to try to get healthy with Isagenix, and I feel good about advocating a high quality product.

http://meghanleigh8903.isagenix.com/us/en/landing_cfl.html#

Isagenix

This week involved hosting an anniversary party for two overly deserving parents.  It also involved some run of the mill nonsense – dealing with ridiculous medical bills and the like, from people who will never “get” what it means to have to spend every day of your life out in front of a chronic, potentially life threatening rare disease, PTEN Hamartoma Tumor Syndrome – or Cowden’s Syndrome, as we usually refer to it.

I do my best every day, to raise awareness of what it is like to live with a rare disease, a genetic mutation that predisposes my daughter and I to so many cancers.  I do my best, wearing proudly our denim ribbon, and sharing ribbons with friends and family, to educate the community on our, and other Rare Diseases.

hope its in our genes

Now, I know its slow going, but I am confident that more people in our community have heard about Cowden’s Syndrome than just a year ago.  Of that I am sure.  And we will continue our grassroots effort – one person at a time.  Until hopefully, one day everyone will know of the “Global Genes Project,” and the 7.000+ Rare Diseases besides ours that are out there.

Today I sat down at a scoring site for the State Math Exam, and two girls I never met before feverishly gushed over the bravery of Angelina Jolie.  Having heard nothing of the story, I asked what all the fuss was about.

English: Angelina Jolie at the Cannes film fes...
English: Angelina Jolie at the Cannes film festival. (Photo credit: Wikipedia)

“She had a preventative double mastectomy because she has a gene that makes it more than 80% likely she will get breast cancer.  She is so brave!”

I smiled in spite of myself.  I smiled in spite of the irony that had me wearing the T shirt “Yes, these are fake – the real ones tried to kill me!”

yes_theyre_fake_real_ones_tried_to_kill_me_light_t

I smiled because I thought it was great that Angelina was well and had gone public.

“You know she decreased her breast cancer risk to under 5% now?  She is so brave!  I can’t imagine anyone doing that!”

I still kept quiet.  I quickly checked my Emails to reveal that the blogs I follow regularly were all over the Aneglina story and had eloquently covered it.  I listened some more.

Finally, almost on cue, they got bored with their story and asked me about my necklace – the denim ribbon.

meg necklace3

I told them I my daughter and I had a rare genetic disease.  That the denim ribbon was the symbol for rare and genetic disorders.  They asked what the name of it was.  So as I identified “Cowden’s Syndrome,” the expected reply was given.  “I haven’t heard of that.”

“Well,” in my most succinct conversational tone, “PTEN is a gene that stops tumor growth.  Ours is broken so we are more likely to get cancerous and non cancerous tumors all over our bodies.  Especially in the breast, thyroid, and uterus.”

“YOU MEAN YOU HAVE THE SAME GENE BROKEN AS ANGELINA JOLIE???”

(Having not fully read any article I quick double checked my suspicions and confirmed,) “No, she has a mutation on the BRCA1 gene. My daughter and I have the same 85% risk of breast cancer, as well as countless other elevated cancer risks.”

“Well if you ever have to get a mastectomy at least you’ll know Angelina did it.”

You know I never much followed the stars.  And I am so grateful for Angelina Jolie for being brave and going public.  But there is so much more people need to learn.  Nothing comes in neat little packages.  Nothing.

I stretched out my shirt so they could read. “Yes – they’re fake , the real ones tried to kill me!”

are there any other mutations

“I had my double mastectomy.  Last year.  They found cancer.  And I am ok.  Genetic mutations aren’t just for movie stars.  Bravery isn’t just for those who have wealth and power.  There are more of us than you think.”

I was grateful when the tests arrived at the table.  It changed the conversation.  People don’t want to talk about cancer.  Especially not young women with genetically caused cancer.  It makes them uncomfortable.

I am glad Angelina Jolie went public.  I just wish the public would open their eyes to the realities that are undoubtedly right next to them every single day.  It doesn’t take a star.  Just a conversation.

Let’s talk.  Let’s listen.  Let’s learn.  We can save lives.

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.

books

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.

competition_pools

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.

tired-of-waiting

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.

Rare_Disease_Day_Logo_Hope_

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.

NYU

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.

School

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.

Exhausted

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!

 

Tennis anyone?

Shot of a tennis racket and two tennis balls o...
Shot of a tennis racket and two tennis balls on a court. Taken by myself of my racket. Intended for use in WikiProject Tennis Template. vlad § inger tlk 04:59, 18 June 2007 (UTC) (Photo credit: Wikipedia)

I don’t play tennis.  Never have.  I am not that quick, athletic or coordinated.  But I have always wondered what it is like to be the tennis ball.  Back and forth, back and forth.  No real purpose, no one stops to look at it.  They just quickly replace it when it goes out of play.

I am starting to feel a bit like a tennis ball these days.

I have gone through more doctors for Meghan and I in the last 12 months than I care to count.  They are either interested in helping, but too confused to figure it out, or, worse, they are too lazy to try to figure out anything to do with a syndrome they have never heard of.

I can teach them the basics – if they would listen.  PTEN is a tumor suppressor gene.  Ours is broken.  We make tumors.  Especially in certain spots.  When things are weird, look for them.  Regularly screen for them with the same tests you order all the time.  Just screen more often and before we have symptoms.  That will help us live.

I have journal articles.  I have my reports, and Meghan’s too.

I was told last year to get myself an oncologist to manage my case.  The one close to home lasted only a few months.  Irreconcilable differences.  Maybe he had wax in his ears.

So I took a break from looking.  The double mastectomy, the breast cancer, the hysterectomy – they took some time.  Now, as I am healing from the hysterectomy I get a referral from my gyn oncologist to a general oncologist she knows very well.

I called his office.  I faxed 39 pages of my test results and history.  They called to say I needed someone else – he wasn’t right for me.  No, I insisted.  Dr. B said he was the doctor I needed.  I faxed him and article from the Journal of Clinical Cancer

A Tennis ball Author: User:Fcb981
A Tennis ball Author: User:Fcb981 (Photo credit: Wikipedia)

Research, and the request that he please just look at me.

No.

I got a referral to an oncologist who specializes in genetics.  She doesn’t take my insurance.

Back and forth, back and forth.

Tennis anyone?