Double Edged Sword

I remember as a young girl, and even a teenager, having the phone pretty much attached to my ear all the time.  I remember being so excited when we got a cord long enough for me to bring the phone into my room.  I remember calling people, and being so frustrated at busy signals.  I don’t remember much of what I talked about for all those hours, but I liked it.

When I went to college, I went with an electronic typewriter with a 4 line display.  It was state of the art.  In my dorm there were computers in the common area and people were just beginning to really Email.  There were no cell phones.  We knocked on each other’s doors and spread word through friends when we were getting together.

It’s now been 23 years since I graduated from college.  I’m coming to understand the generations before me.  Perhaps some of the discontent with things changing was a foreboding sense of where it was leading.

I don’t go far without a cell phone in hand.  I “google” like it is my full-time job.  I’d rather text than call, and I am guilty of putting only the “perfect” images on my social media accounts.  I “keep in touch” through photos of friends children.  Some of these children are teenagers now.  Many of them I have never even met.

I wish “Happy Birthday” on Facebook after it reminds me, and rarely send a card.  I delude myself into feeling “in touch” when really we’ve lost all track of each other.

I’m watching a generation grow that thinks its acceptable to post all kinds of photos of themselves, inevitably trying to look older than they are, in a forum where nothing is truly private at all.

I’m not saying we had it all correct by any means.  I was guilty as the next of trying to impress “popular” kids, or to fit in.  There were mean kids.  There were those who isolated.  We passed notes.  But, we didn’t post our comings and goings for the world to see.  I was blissfully unaware of who went where, unless I was there.  If we took photos it was the real deal.  There were no filters.

The internet, and the social media craze that has followed is the proverbial “double-edged sword”.

Living with, and having a child with, a rare genetic disorder means I have to do most of our research here.  Most doctors lack the time, the knowledge, or the desire, to entertain my instincts.  I may not be a doctor, but I am an expert on Meghan.  I have been able to learn through trusted medical journals and intelligent internet connections, more than I would have ever been able to learn 25 or 30 years ago.

Meghan has had medical problems since day 1, and I have had the privilege of advocating for her since then.  I have “met” parents through online support groups, and have soaked up their advice like a dry sponge.  Parents go out of their way to help other parents, and it is a community like no other.  Without the internet I would have been traveling this journey largely alone.

There were multiple diagnoses before the PTEN Hamartoma Tumor Syndrome (Cowden’s Syndrome) diagnosis in 2011.  And, truth be told, I suspect there are still a few more coming our way.  During each step of the journey I have been able to connect with medical professionals and parents in ways that leave me forever grateful.

I am skilled at dealing with the insurance companies, the mail order pharmacy, and the collection agencies.  I am on-line so often, printing medical explanations of benefits, or fighting for treatment courses that I know are necessary.

I have become well versed in the laws surrounding Individualized Education Plans, (IEPs) and have secured necessary accommodations for an honor student battling PTSD largely from the fallout of a rare genetic disorder.

We fund raise for the PTEN Foundation, in hopes of one day soon allowing a patient powered registry that can lead us to treatment, and maybe even a cure.

All of this is possible through social media and the internet.

These are the same forums that allow people to think they are “in touch” without ever hearing each other speak.  These are the same forums that allow teens and adults alike to think it is ok to be insufferable or mean because they don’t have to look the other person in the eye while they do it.  It is these same forums that claim to bring us all together, that are causing what I fear is irreparable social damage.  A generation of children who aspire to impossible ideals and feel they are not good enough, are growing up.  They have the world at their fingertips.  Will they have the skills to access it through human interaction?

I don’t know what it is like to live anyone else’s life.  Maybe there are similarities, or maybe my views are odd.  I blog to give an honest account of life in this house, with these challenges, because I too have found comfort in knowing I am not alone.  At least theoretically.

I am always busy.  Sometimes I don’t choose it, and sometimes I choose it without realizing it.  I am so used to being in motion, not having a full agenda is confusing.  It is also very very rare.  My only speeds are “go” and “off”.

Chronic illness can easily run your life.  When every ounce of strength must be used to create the illusion of normalcy, there is not much time to be “normal”.  When you can not predict the health crises that exist daily, or the new ones that crop up at a moment’s notice, it is hard to make plans to do much.

We are a family of 3.  My child is an only child.  She has all the benefits, and all the downfalls of that status.  We have extended family.  I have friends.  Long time friends.  Old friends.   I know I could rely on them if it became time to wave the white flag.  But they are busy too.  And our time will come in a few short years when our children are off on their own.

My child does not have a built-in network.  My child has PTSD, and incredible anxiety.  She can sometimes have an abrasive personality.  But, she has more integrity and compassion in her than just about any other human I know.  You can’t pick any of that up off her Instagram. Or her SnapChat.  To really know her you’d have to talk to her.  The old-fashioned way.

That very network that has allowed me to learn so much, to do so much, and to help so much, has also caused harm.  For both of us.

For me, it represents the easy way out.  Aside from a few support groups, I know people will tire quickly of hearing the same story over and over. So, it is easy to click “like,” post a few comments, and have at least a visual in my head of what’s going on.  But, it also leaves me with feelings of inadequacy.  Why can’t I get us to the beach?  Why can’t I plan day trips with actual humans without fear of having to cancel?

For her, it is a constant reminder of a “normal” life that she doesn’t have.  Whether it’s pain, medical appointments, food allergies, or anxiety, there is an isolation inherent in this world of chronic illness.

She speaks of the “Sword of Damocles” with regularity.  The history channel gives this explanation History Channel- Sword of Damocles (Go ahead, and click the link. It’s a worthwhile read.)  This analogy explains a life hard to comprehend, and impossible to describe.

The internet probably saved us.  Social media brought me to some of the smartest parents, living variations of our life.

Social media altered the scope of human relations with consequences we will see for generations.

The irony of it all perhaps is that this message reaches you through the double-edged sword of the internet.

I’m interested in hearing your comments.

We remain

#beatingcowdens

With all it’s “side effects”

One day at a time…

Local Newspaper Coverage

This is already all over for my local friends, but for anyone else who is interested, this article was written for our local newspaper. It will publish in print Monday, but is in the online paper today. Click the link below.

http://blog.silive.com/gracelyns_chronicles/2016/01/post_23.html#incart_river_mobile_home

 

JFRGflyer7

#beatingcowdens #collegebound

No, she’s not going yet.  And actually even the thought that she will truly be college bound only 6 summers from now makes me a bit queasy.  But, there will be time to deal with that later, and milestones to cross along the way.

For tonight, we celebrate what we hope will be the first of many college scholarships.  While the amount is small, and the $1,000 will likely not even cover the cost of her first semester’s books, the honor is great, and the concept that these things can start now is mind-blowing.

The link below only connects you to the search page, where you would have to put in her name and state to search for “Regional Winners,”  but the picture shows a snapshot of the reasons for selection.

Regional Winner - Kohl's Cares Scholarship 2015
Regional Winner – Kohl’s Cares Scholarship 2015

Search for Scholarship Winners using this link.

The award is held by Kohl’s and paid to her “undergraduate institution” upon enrollment.  It sounds so formal.  So fancy.  So far away.

But, it’s not.  And time will fly.  I know this.

So I run as much as I can, getting to every doctor, and as many swim practices, and drama sessions as I can.  She maintains her really high average with minimal input from home.  And I bring the computer to swim practice.  So I can write.  And stay sane.  And cherish the little things, which in fact are DEFINITELY the BIG GIANT things.

little things

Tonight it’s not about being sick.  It’s about being well enough to overcome.  It’s about determination to persevere.  It’s about a desire to make life better for others.

Determination

She is talking actively about how she will make next year’s fund raiser better.  Her goals.  She has some other things in the works too.  The brain is always going.

effort

She is steering this ship.  I am her happy co-pilot.  Along for the ride of my life.

Together we are BEATINGCOWDENS, and we WILL NOT be stopped.

 

Dear Cowden’s Syndrome,

I’ve wanted to talk to you ever since you rudely introduced yourself to my family in 2011.  Actually it wasn’t even a proper introduction.  It was more like, “I’m here.  I’m staying.  What are you going to do about it?”  In hindsight, you’ve probably been with me from the very beginning, an explanation for the years spent in surgery for random growths all over my body.  And you know what?  I could have kept quiet about things.  I could have plodded along removing lumps and bumps as they surfaced, praying they remained benign.  But, you crossed a line.  You messed with my girl.

I went all those years not knowing.  I never understood why I seemed to spend an inordinate amount of time in doctor’s offices, generally being made to feel like an idiot for things they could not explain and did not understand.  But, I’m a mother now, and mothers get over those things because nothing is more important to them than the health of their children.

So when my then 8 year-old was introduced to you at an incredibly tender age, the mother beast in me came alive.  Before I could even contend with your existence I had to run damage control and get out in front of the storms you were plotting and planning.  I had to read and research and learn, because with an occurrence rate of 1 in 200,000, I typically knew more than any doctor we met.  And with our PTEN (tumor suppressor) gene officially listed as broken, the words cancer, cancer risk, and potential malignancy became part of our every day vocabulary.

That entire first year I was sure we had lost our very existence to the routine screenings you require.  A doctor for every body part, and a pediatric and an adult version of each no less.  Scheduling was a nightmare.  It’s a wonder I kept my job and my sanity.  And my girl, almost like a deer in headlights, tired of being poked and prodded and treated like a pincushion was getting plenty annoyed.  She’d already had 8 surgeries, and a ridiculous number of biopsies and MRIs before we met you.  Now there was this road ahead that was just flat out exhausting.  There were worries heaped upon worries.  And it got old real fast.

Our friends have tried to hang with us.  And they are an incredible lot.  But, it gets tiresome to hear that things just keep on coming, and that nothing here is “all better.”  Understandably, many of them have had to pull back.  Their own lives are busy.  Things continue, and just because you want to have your way with us, the world can’t stop spinning.  We miss socializing.  We miss casual get-togethers.  It’s hard enough to even visit properly with our family in between appointments, and hospital stays and the few activities you haven’t taken from my daughter.

Let’s talk about that for a minute.  Let’s talk about the pain.  The unforgiving knee pain that affects every aspect of her life.  Let’s talk about having to quit soccer in 1st grade, and dance 2 years later.  Let’s talk about her desire to run track that can never ever be.  Let’s talk about my girl, born with the heart of an athlete who keeps getting the rules changed on her.

The knee!  The right knee.  The one that has hurt since birth.  The one where the AVM (arteriovenous malformation) was supposed to be resolved in or or two embolizations.  Until they learned of you.  You would be the reason it continues to plague her, change the course of her life, and cause her undue agony on a daily basis.  You would be the reason the 5th attempt to fix it in November after 50ccs of blood leaked into her knee joint essentially failed.  You would be the reason we are awaiting a 6th surgery on the knee.  This one with the orthopedist and the interventional cardiologist at the same time.  One will assess the damage from all this blood, and the other will have another go at this AVM.

The AVM.  The likely reason the feet are now a size and a half apart.  Continuing to make life easy for my girl aren’t you?

And while we’re at it, let’s talk about the thyroid.  The 19 nodules you allowed to grow there, until “precancerous” prompted complete excision.  We beat you.  We got it out in time.  But, it was real close, and I didn’t like it one bit.  And as payback, 13 months later, the synthetic hormones still leave her chronically wiped out, and running on raw nerve.  The endocrinologist is confused.  He offers no explanation as to why it’s not ok.  They offer me no answers about the effects on the body.  Because they don’t know.  You’ve kept them confused, and it’s wearing on my nerves.

But, you know what?  You won’t win.  Not here.  Not in this house.  Not with my daughter and I fighting you every step of the way.  We like to call ourselves “Beatingcowdens,” because we are.  And we will continue to.

See, you messed with the wrong women here.

After we dusted ourselves off and learned to schedule the screenings and tests and surgeries on OUR time, we started to breathe a little.  There are so many.  But, they don’t OWN us.  Plus, I went on ahead of you and got some things removed.  That “prophylactic mastectomy” that turned into “thank goodness she got that DCIS we didn’t know was there out in time…”  well, that was a HUGE win.  And the hysterectomy before the uterine polyp could change its mind from benign to malignant.  Winning.

My daughter has decided to become an advocate for rare diseases.  Her work has begun small, out of a need to educate the people who judged her for sometimes needing a wheelchair to contend with that knee.  It started with some business cards that explain what Cowden’s Syndrome is.  It blossomed into assemblies at school, newspaper articles, and a friendship with our Borough President.

She took to the Global Genes Project, and their logo, “Hope, It’s in our genes.”  She had a friend make a denim ribbon necklace.  And “identity piece” for her.  She learned about all the rare diseases she could, and how so many of the babies who can’t speak for themselves need our help.

She embraced the creation of the PTEN Hamartoma Tumor Syndrome foundation in 2013.  She carries hope that one day their work will affect change directly in our lives.

She met up with friends through my online connections.  She corresponds with Colorado and Australia.

In February, with only guidance from me, she organized a “Jeans for Rare Genes” fundraising breakfast that generated $12,200 for her two favorite charities.  Over 150 people attended that event.  Community support was overwhelming.

Oh, and the heart of an athlete you tried to take from her… you lost there too.  She is a swimmer now.  And this year she qualified for Silver Championships in the 100 butterfly for her age group.

So, despite what you may have tried to do to our lives, you are losing terribly.  You are something we will have to deal with for the rest of our lives, but you will NEVER own us.  You may try to be pushy. You may be downright rude, hurtful and insensitive at times.  But, that’s OK.  We’ve handled worse than you, and we’ve come out just fine.

As a matter of fact, maybe I should say thank you.  Thank you for lighting the fire in our bellies.  Thank you for helping us find our self-confidence.  Thank you for giving us the fight that forces us to never ever give up.  Thank you for teaching us that we can make a difference.  Thank you for empowering my beautiful young lady with a forceful strength that WILL change the world.

You’re not the boss of us.

Forever we remain,

BEATINGCOWDENS!

Lori & Meghan

cropped-image3.jpg

cropped-photo-1-1.jpg2014disney1

RFTC 2013B

Meghan’s Rare Disease Day Video 2015

More about a successful event later.  For now, news that we’ve raised over $10,000 to share between the Global Genes Project and the PTEN Foundation is plenty while we rest.

PLEASE, spend 7 minutes on Meghan’s video.  You won’t be sorry!

Twelve Surgeries in 11 Years: Living With Cowden’s Syndrome

http://blog.silive.com/gracelyns_chronicles/2015/01/twelve_surgeries_in_11_years_l.html

The content of the article is pasted below.    Please click on the link above to read the story in full effect.  The photos were added below as reflection by me!

This article appeared in our local paper.  Dr. Santos did an outstanding job capturing Meghan’s essence.

By Dr. Gracelyn Santos | gsantos@siadvance.com
Email the author | Follow on Twitter
on January 08, 2015 at 11:00 AM, updated January 08, 2015 at 1:52 PM

STATEN ISLAND, N.Y. — Meghan Ortega, a Westerleigh sixth-grader, is one of my favorite dental patients and one of my twin daughters’ dearest friends.

A graduate of PS 29, Meghan is a Principal’s Honor Roll student at Markham Intermediate School in Graniteville. She loves drama, is an avid reader, loves to swim and has a broad smile and sunny disposition.

Meghan also happens to be one of the bravest kids I know. In her 11 years, she has had 12 surgeries. Twelve. She hurts every day, but has learned pain is part of her life.

Meghan has a rare genetic disorder called Cowden’s syndrome.

Cowden’s falls under the umbrella term of PTEN hamartoma tumor syndrome. The PTEN gene, which suppresses tumor growth, malfunctions, resulting in benign and malignant tumors developing all over the body.

Approximately 30 percent of children with genetic disorders die before their fifth birthday, so Meghan is fighting for her life with preventive screenings and surgery.

As her dentist, I saw firsthand one of the oral manifestations of Cowden’s syndrome — a suspicious gingival (gum) growth — for which I referred her to an oral surgeon for biopsy and excision.

Not once did I ever hear Meghan complain.

The PTEN gene is passed on in an autosomal dominant pattern and is rare, affecting one in 200,000 people. The cancer risks are high; the lifetime breast cancer risk seems to exceed the BRCA risk, and there are significant risks for thyroid, uterine, kidney, skin, colon, and countless other malignancies.

To keep a close eye on the disease and its progression, Meghan sees doctors regularly for preventive screenings — including biopsies.

But she is just happy that she finally has a diagnosis.

When Meghan was a baby, her parents, Lori and Felix knew something was “not right.” She was chronically ill. She suffered with gastrointestinal distress well past her first birthday, and her diet had to be free of gluten, dairy, soy, dyes and preservatives. Her gallbladder was removed when she was 3 years old.

Meghan also had a lipoma taken from her back and her tonsils and adenoids removed. She had to have a complete thyroidectomy because of 19 rapidly growing abnormal nodules on her thyroid gland, three of which were deemed pre-cancerous.

The most notable of the surgical procedures for Meghan’s abnormal growths were the five she had to undergo as a result of an AVM (arteriovenous malformation) in her right knee. While AVMs are not exclusive to Cowden’s syndrome, there is an increased incidence in the population.

Recently she was hospitalized for a week because the medication that helped control the AVM in her knee caused damage to her GI tract and her esophagus.
She was taken off that medication and is healing, but the pain has returned to her knee.

It is one of the constant smaller battles she fights with side effects of the multiple medications she must take.

Meghan is often at a doctor’s office. Barely a week goes by without at least one appointment. She waits like a champion for hours on end, because she is conditioned from years of practice.

Lori, her mom, firmly believes Meghan saved her life — because of Meghan’s diagnosis, she also was tested and confirmed positive for the PTEN gene mutation. She had surgery as well, a prophylactic double mastectomy.

In a world where we often get wrapped up in trivial annoyances, Meghan is an inspiration, a reminder that in the great scheme of things, people all around us are fighting real battles.

Although Meghan has met some great friends along the way, it is often a struggle for her to relate socially to most children, who likely have been to the doctor only once a year their whole lives.

Meghan’s experience of living with Cowden’s, combined with the food issues, can be isolating for her, realizing early on that talking too much about pain to her peers can also increase the isolation: It is hard for them to relate.

So she threw herself fully into support of other children and adults who have rare diseases, like the one she and her mom share.

She worked with one charity, the Global Genes Project (www.globalgenes.org) soon after she was diagnosed.

Meghan also sought a symbol for those with multiple medical issues and what developed was beautiful: A denim ribbon, a nod to the slogan, “Hope, it’s in our Genes.”

The first year after her diagnosis, Meghan simply wanted to hand out Denim Ribbons on World Rare Disease Day. The second year, she worked with the Student Council to organize a successful fundraiser at school.

Now, Meghan has struck up a friendship with Borough President James Oddo, who has invited her to Borough Hall several times to talk about ways she can make a difference. He has become her mentor, helping her find her voice.

This year, Meghan has organized a fundraiser to be held Sunday, Feb. 15, at Nicotra’s Hilton Garden Inn in Bloomfield, to raise awareness and money for rare diseases. To help others like her, many worse off.

Her goal is to educate everyone about rare diseases in general.  She is acutely aware that everyone struggles, but wishes there would be less judgment and more support. One of her pet peeves is people who say, “You don’t look sick.”

For more information about Meghan’s journey and to support her fundraiser, please visit her blog, http://www.beatingcowdens.com  Tickets can be purchased at http://www.eventbrite.com.

 

Alex and ANI hero front

wear that you care photo

do something

random-acts-of-kindness

Meghan 2014 Nominee for Global Genes Project Teen Advocacy Award
Meghan 2014 Nominee for Global Genes Project Teen Advocacy Award
2014 Kid of Achievement - Staten Island Children's Museum
2014 Kid of Achievement – Staten Island Children’s Museum

Rare Disease Day Fundraiser