Rare Disease Day- Video Recap

Published on February 10, 2020February 10, 2020 by beatingcowdensLeave a comment

Rare Disease Day Video Flashbacks…

This year World Rare Disease Day is Saturday February 29, 2020.

As we prepare to do what we can to raise awareness of Rare Diseases… I’m reblogging this post with some videos Meghan created as a younger person with Cowden’s.

Keep in mind, the most recent here was 2017.

ENJOY!

beatingcowdens

World Rare Disease Day is February 28th. People all over the world will work to raise funds and awareness for over 7,000 Rare Diseases worldwide. In our house things are buzzing, as we prepare to teach the world a bit more about Cowden’s Syndrome.

There will be so much time to write. Soon. Right now we are preparing for Rare Disease Day 2017 and “Jeans for Rare Genes 3.” All the preparing brought me back to her video from last year. And then I looked at the year before, and the one before that. And I was struck by how much she has grown, not only in her technological ability, but also as an advocate, and a voice, and a human.

There will be no video this year. It was time for a change of pace. But, I thought it appropriate to post these here, now. She keeps me grounded…

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“…What is essential is invisible to the eye.” Antoine de Saint-Exupery

Published on February 2, 2020 by beatingcowdensLeave a comment

“You don’t LOOK sick.”

Like all things your perception changes over time. When I was much younger if someone asked me for the most hurtful thing someone could say to me – it would have been something you’d be much more likely to guess.

But, years have passed and so much has changed.

Now, hands down, this is close to the top of the list.

I am reminded today of my senior year in high school. Madame Eicoff taught accelerated French. At the time it seemed like a great idea, and the irony that I took seven years of French and grew up to marry a Spanish man was never lost on me. One of the many ironies of life. But in Mme. Eicoff’s class we read “Le Petit Prince” by Antione de Saint-Exupery, and reading and understanding, and feeling that book in French… well, close to 30 years later the emotions are still fresh in my mind. But, I digress…

I don’t want to LOOK sick. I guess in some ways it could be a compliment.

Except it’s not.

Everyone who says it, or thinks it, or shouts it, or whispers it, does it with judgment.

And I guess my question is – What does SICK look like?

In this day and age where tolerance is expected, I feel like we are lagging behind in acceptance of rare disease and chronic illness.

What qualifies as sick?

Is it constant trips to the doctor? Tests? Scans? Referrals to more specialists? Surgery after surgery? Recovery?

Is it having doctors “Google” your disease in front of you, only to have them authoritatively verbally plagiarize the first page of the search when you have analyzed every relevant article on the first ten?

Is it time after time being made to feel you are not credible, or “less than” because no one can make it better?

Is it begging and pleading for pain relief only to be accused of being an addict, when you don’t want a pill at all?

Is it constantly plotting and planning any outing so as to utilize the fewest amount of steps to minimize the often bone crushing pain and fatigue that follows tasks as simple as grocery shopping?

I will agree there is a fine line between simple reality, and self-pity. I dance across it sometimes.

And then I play the music louder and dance right back.

This is my reality. Self-pity has no real purpose. People typically don’t want to hear about it.

But, just because it makes you uncomfortable doesn’t make it any less true.

I am not perfect. I judge. I judge for the wrong reasons sometimes. I judge people who I know nothing about sometimes. I am a work in progress. (As a dear friend often said, “I live in an all glass house.” Nothing about this is intended to throw stones.)

I am learning every day that saying “everyone has something” and really BELIEVING it are different.

I am learning that mine is no more, and theirs is no less and that is perfectly ok.

I am learning that human suffering is a universal, and “sick” carries a stigma that should be eliminated.

Because, if you are “sick” and you “look” it, you are likely “seeking pity.” If you don’t “look” it, but you have an “acceptable” (read well known) illness, you are “brave.”

Mental illness is not visible, yet depression and anxiety plague so many in astronomical numbers. Still we are embarrassed to speak of it, and it is surrounded by shame.

Chronic pain is not visible, not even behind the gritted teeth of the (insert so many people you know here) that you see every day. Living your life with pain that never leaves in and of itself can drive you mad. Think about the last headache you had. The one where you had to close the doors and shut the lights. Now think about it forever…

Real illness is often REALLY invisible.

This is neither a contest or a competition.

This is real life.

We are all real people.

And maybe it’s that simple. Maybe we need to go back to the simplistic view of a young child.Rare Disease Day is February 29th.

I am certain if you yourself are not suffering, you know someone who is.

They may look just like everyone else in the room.

I’ve set goals for self-correcting my unintended judgment of others.

I’ve found an excellent starting point at contemplating that every one of us is deeper than what can ever be seen with the eyes.

#beatingcowdens

WHAT IS A RARE DISEASE?

There are over 300 million people living with one or more of over 6,000 identified rare diseases around the world¹, each supported by family, friends and a team of carers that make up the rare disease community.

Each rare disease may only affect a handful of people, scattered around the world, but taken together the number of people directly affected is equivalent to the population of the world’s third largest country.

Rare diseases currently affect 3.5% – 5.9% of the worldwide population.

72% of rare diseases are genetic whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.

70% of those genetic rare diseases start in childhood.

A disease defined as rare in Europe when it affects fewer than 1 in 2,000 people. (www.rarediseaseday.org)

Rare Lives, Rare Disease Day, and So Much More to Come

Published on February 27, 2019February 27, 2019 by beatingcowdensLeave a comment

Thursday, February 28th, 2019 is World Rare Disease Day.

There was a point close to forever ago when that meant nothing to me. I had never even heard of it.

Our initial Cowden’s Syndrome diagnoses came in the fall of 2011. Meghan got her’s first, and mine followed soon after. 2012 held the most insane whirlwind of medical and surgical experiences we have ever known.

By the time Rare Disease Day came around in 2013, we had begun to feel the need to raise awareness of our PTEN Mutation causing Cowden’s Syndrome. Even though we were grateful to have each other, to be 1 in 200,000 can be isolating.

At the time my girl took to the Global Genes Project and learned all she could about rare diseases. She was most struck by the reality that many children diagnosed with rare diseases don’t live to see their 5th birthday. She promised she would always try to speak, not only for herself, but also for the “littles” who couldn’t tell their story.

Meghan’s Speech in 4th Grade…

The text of her speech – Meghan Speaks Out!

In 2013 she spoke at her school and at mine. We handed out denim ribbons, and started opening eyes.

In 2014 we stood together, as she was a student at my elementary school. She created a video, we did a fundraiser. There was something empowering about sharing knowledge.

February 2013 Article

In 2014 she met Borough President Oddo and they are still in contact. He has been a mentor for her through the years.

RDD Blog Through Meghan’s Eyes 2014

Rare Diseases as a whole are common. One in ten people suffers with a rare disease. Yet, there are over 7,000 rare diseases and each carries with it it’s own specific challenges. More than 350 MILLION people suffer from a rare disease, yet it takes 8 years on average for a diagnosis. https://globalgenes.org/rare-facts/ In the interim, so many people trudge through the day to day challenges alone. Typically there is no one to relate to their experiences, and even the best intended friends and relatives often tire of the chronic nature of a disease that won’t ever leave.

Raising awareness became a mission of Meghan’s to help people become more compassionate and kinder towards each other. We have always worked with the understanding that “everyone has something,” and the more we learn empathy and compassion, the further we will get.

Meghan’s early days of speaking in schools, and creating awareness videos evolved into “Jeans for Rare Genes” a fundraiser involving friends, family, and the community. There have been 4 so far, each one different than the ones before, but all helping to raise funds and awareness for rare diseases.

In December 2013 the PTEN Hamartoma Tumor Syndrome Foundation was born, through the blood, sweat and tears of Kristin Anthony, and with a village, it is growing into a helpful, guiding light in our community. And, finally Meghan has found the focal point for the fundraising!

(check out some of the links below for some of our journeys)

RDD Meghan’s Video 2015

Twelve Surgeries in Eleven Years Article 2015

RDD Meghan’s Speech and Video 2016

Understanding Cowden’s Syndrome Article

Through the years my girl has been honored as a New York State Woman of Distinction, the youngest ever, in 2016.

She was awarded the “Humanitarian Award” at the Teddy Atlas Dinner in November of 2018. She has racked up close to 20 surgeries in her young life, and yet she has managed to remain a scholar and an athlete.

Lives now forever intertwined. Kristin Anthony celebrates Meghan’s honor with us.

Celebrating Rare Disease Day is sometimes like going to the worst party ever. Or, maybe it’s the best. I guess it depends on how you look at it. We’re here… stronger. The community is growing. Support exists. Hope exists.

Last summer we were contacted by Aldo Soligno on behalf of the “Rare Lives Project.” He had worked on this project in Europe and had had much success raising awareness to the government about the lives of people with rare diseases. We were touched to be asked to be part of his American pilot of this project. And, while it has not received the funding he had hoped, the release of this summer’s photos on social media has been therapeutic for both of us.

Here are some of the picture released to date. Photo credit Aldo Soligno.

Please follow “Rare Lives” on Facebook, Instagram, and Twitter to help them raise awareness of all rare diseases.

Please follow the PTEN Foundation

on Facebook, Instagram and Twitter. Follow their community work, their fundraising, and their efforts to unify with PATIENT FIRST.

This neat initiative is taking place right now, among others!

https://www.facebook.com/ptenrocks/?sfnsw=cl

We are perched in exciting times. It is a time to reflect, to gather strength and resolve and press forward.

This year I know more people with Cowden’s Syndrome, and more people with other rare diseases. We are allies and advocates. We are parents, sisters, brothers and friends.

This year I hold close in my heart a friend’s little one, waiting on her diagnosis. My heart feels their anguish. My faith tells me their help will come.

There are still struggles. Plenty. But, before telling those stories it was time to remember from where we came.

One thing will not, and has not changed. We remain forever

#beatingcowdens

Rare Disease Day 2018

Published on February 27, 2018February 27, 2018 by beatingcowdens2 Comments

I took today off from work.

Sadly, it was not to enjoy the almost 60 degree February day.

Today was doctor day.

And as I traveled two hours for the 17 mile trip into Manhattan this morning, I had plenty of time to think about World Rare Disease Day, tomorrow, February 28th.

Rare Disease Day 2018 will pass for us unlike the last few. In recent years my family, spearheaded by my daughter, has held a sizable fundraiser to draw attention to Rare Disease Day. Our goal was always to raise awareness and funds to support research and treatment of our Rare Disease through the PTEN Hamartoma Tumor Syndrome Foundation. My girl needed some time off to address some things on her mind and heart. I gave her that time. She is still working hard, but she has already expressed an interest to join me in planning an event in October of 2018. Stay tuned.

While I was driving, I thought a lot about RARE. It has so many connotations.

Sometimes I think of snowflakes, and rainbows, and unicorns. I think of pleasant, beautiful things. Some of the buildings on the skyline look rare. Rare can be a thing, a sight, an action or even a feeling.

Rare is defined by Dictionary.com as:

adjective, rarer, rarest.

1. coming or occurring far apart in time; unusual; uncommon:

a rare disease; His visits are rare occasions.

2. thinly distributed over an area; few and widely separated:

Lighthouses are rare on that part of the coast.

3. having the component parts not closely compacted together; not dense:

rare gases; light-headed from the rare mountain air.

4. unusually great:

a rare display of courage.

5. unusually excellent; admirable; fine:

She showed rare tact in inviting them.

Rare can mean remarkable, wonderful and exciting. It can mean fascinating, and intriguing.

But life with a Rare Disease reminds you often, that RARE can have many other connotations.

A quick look at thesaurus.com generated these synonyms to RARE:

Synonyms for rare

adj exceptional, infrequent

Quite a list, right? And, if you really look with an honest eye, not all of them have super positive connotations.

Strange, uncommon, unthinkable, unusual, deficient, flimsy, tenuous, (and no this isn’t a typo, but I had to look it up) unwonted…

These are not the words you’d use to describe a beautiful natural event, and probably not the words you’d pick for a dear friend.

Yet, these words also mean RARE.

I set out today to get screened by 3 of my many specialists. The cancer risks with a PTEN mutation are almost astronomical. It becomes a game of “when” not “if” in so many cases, and the vigilance required to seek out the cancers so they are detected early can be overwhelming. Lifetime risks for breast (approximately 85% as compared to 7%), thyroid approximately 30% to .9%), uterine (approximately 28% as compared to 1.7%), kidney(approximately 24% as compared to 0.8%) and melanoma (approximately 6% as compared to 1.1%) eclipse the general population. (These numbers were midline from a graph in this link) www.myriadpro.com/services/clinical-summaries/gene-pdf.php?gene=pten&allele…

The risk of recurrence is also great, and that of developing a second, primary site cancer is also noteworthy. So, having had a double mastectomy with a great prognosis, does not eliminate the need for biannual screening. I love my breast surgeon. She is one of the best. She and I are both always pleased when she can tell me everything is good.

But, I held onto her a little longer today. I told her I was in the market for an internist. I need someone to play “case manager.” I need someone to be my doctor. She paused and furrowed her brow a bit.

That isn’t an easy request, she told me. I said I just need someone willing to learn a little, and consider that I don’t fit in a “box.” I need someone who will partner with me. She told me she’d led me know if she thought of anyone.

I’m not hopeful.

I waited down the hall for the hematologist/oncologist. When she was an hour late, I walked the half mile (in jeans and compression stockings from Wednesday’s surgery) BACK to the main hospital to see my endocrine surgeon.

She may be the weakest link in my chain right now. She scanned the remains of my “lumpy, bumpy” half thyroid that the surgeon 25 years ago thought would be an asset to me. She scanned a very slowly growing lymph node in the area that went from .6mm to .8mm. She told me to get some blood drawn and that all looked good. I showed her a recent chem panel. She pointedly ignored every out of range number, and zeroed in on the calcium level. “Good.” And she handed me back the papers. Then she ordered a short-sighted list of thyroid labs that I would never tolerate for my daughter. I was out of her hair in 15 minutes.

I walked back to the cancer center thinking “rare” thoughts.

I waited again for the oncologist, who was as always pleasant and happy. She examined my spleen, and what she could feel of the 4 hamartomas that live there. She felt nothing out of the ordinary, and ordered my abdominal sonogram.

I showed her the same chem panel I showed the endocrinologist. She agreed the irregular labs should be repeated, but did not feel concerned. I asked her about an internist.

She froze. She suggested a new genetics person that had recently come to the hospital. I may go for a consult.

But, and internist? I asked again.

Hesitation. Almost painful look. She explained that the internists have to move fast. They don’t really have time to get to know a new condition. She couldn’t be sure if she new any that would care properly for me. She basically gave me 4 names, but told me I was best left to do it myself.

Even though my rational mind understands it to a degree, I felt like I’d been punched in the gut. I have homeowners insurance, auto insurance, and life insurance, just in case. I have a 401K and am part of a pension system. I do my best to prepare. And I was basically told, by a major NYC hospital, that I stood little chance of finding an internist who would take the time to manage my case.

That scares me. I do it. I always do it, and I will continue to do it. However, I am managing health care for myself and my teen. And it’s not just routine stuff. Cancer is looming, lurking, and mocking us. All I want is someone to check behind, proofread per se, and make sure I am checking all the right boxes. I want someone who will know that a test result in us may not mean what it does in someone else. I want someone who looks me in the eye and knows I am a human who plans to live a long time even though her body doesn’t play by the rules. I want a name to put on the line every time someone asks me for my “primary care” doctor, and I want that doctor to at least glance at every pertinent paper sent to them about my health.

I got my blood drawn at the hospital lab.

It’ll be in the online system long before anyone ever discusses it with me. I’ll scan it, and hope that there are no alarm bells to be sounded this time.

RARE isn’t just snowflakes and unicorns.

RARE is that kid, who everyone looks past. The one without the cool clothes, or the right hair. RARE is the one who no one wants at their lunch table, and the one who is conveniently forgotten on fun excursions. Because, what it RARE can’t do what everyone else can? And anyway, truth be told, RARE has cancelled one too many times. RARE doesn’t really fit in anywhere. RARE is brushed aside, in hopes they won’t bother anyone, or maybe they it go away. People are afraid of RARE. They perceive it as fragile, needing too much effort, or too hard to understand. Sometimes people even envy RARE, without thinking through the late nights, the terror, the medical strategies, the constant advocacy. RARE wants to fit in, but it never will.

RARE is too much new, and too scary for a doctor to own more than one piece.

We are scared of things we don’t understand.

Right now, RARE is a bit of a loner.

We are all RARE in some way.

But, RARE as a lifestyle is not an easy road. And it is not a choice.

The choice comes in what we make of it.

Rare Disease Day 2018 will be a little different this year for us, a little more quiet. But, I hope there is no doubt, that we will come back.

RARE does not give up. Ever.

#beatingcowdens

“… Turn on the Light!” -Albus Dumbledore (J.K. Rowling)

Published on July 17, 2017July 17, 2017 by beatingcowdensLeave a comment

Last week my daughter pulled on a shirt before we headed out to the doctor for the umpteenth time this summer. I didn’t think much of it at first. I was grateful she was dressed and pulled together, and ready without event. As a matter of fact, I was in full on grown up mode, rushing her almost 5’8″ frame and her crutches along to get us prepared for the obligatory ridiculous traffic as we traveled what seems to be the longest 30 miles ever.

I don’t think I even read the shirt until we were in the waiting room a few hours later.

I had read the Harry Potter series as each book came out – beginning as a 5th grade teacher more than 20 years ago. My daughter enjoyed the series in its entirety in a brief period during her year in second grade. I enjoyed the books, each one, but it took a reread or two to analyze things on a deeper level for me. Dumbledore, the wise guide had an infinite amount of wisdom to offer.

Whether she realized it or not, my girl was sending a message that morning – to both of us. There is an ongoing battle, here, and I suspect in many lives, to live the days as they come. We try to “get out of our own way” and “our own head” as the case may be. And it is not easy. When we look further ahead than the day, sometimes even the hour, or moment, it is easy to get swallowed up. The darkness comes hard and fast. Too many appointments, too much worry, too many “what ifs,” too much time wasted, too many plans unfulfilled. No one likes the dark.

So don’t stay there. Turn on the light.

Thank you J.K. Rowling, for giving us Albus Dumbledore.

That appointment Tuesday, it wasn’t great. There are still no real answers. There is swelling on the knee. There is pain. There was confusion from the surgeon. He decided we had rested the knee. Now, it was time to add two medications to treat the knee, a neoprene sleeve for swim, and PT back in the equation. For 2 weeks we will move it and see if that helps. Nothing more than educated guesswork.

I hate it when we have to guess. But, I am grateful for a surgeon willing to logically troubleshoot. We visit him again in 2 weeks. He is confused, but he is smart. And he will not quit.

So with a surgeon who made the choice to keep working on it – my girl did the same. Every day we have choices to make… all day… every day. Those choices shape and mold us.

My daughter was to be part of a beloved theater group these first two weeks of July. Some of the most compassionate, talented and caring young people are in that group, guided by adults that are not afraid to give everything they have for the betterment of the children in their charge. Last year, she had arguably one of the best experiences of her life, and when the word came that she could not participate, that the knee was not prepared for that amount of standing – she was crushed. But, being who they are, the staff, and the students alike not only allowed her, but welcomed her to be with them during rehearsals. As we watched two amazing performances of “Aladdin Jr.” on Friday night, I know she wished to be on the stage, but the pure joy of excitement for the success of these children – her peers- was evident.

She could have sat home and sulked. They could have said she could not come. Instead, the best possible outcome came from unfortunate circumstances. Another major life lesson. Executed flawlessly.

My daughter has dreams. Big dreams. She aspires to be a better human, and to assist those who struggle. She wants to learn her voice, and sing to the best of her ability. She desires to perform, on stage, often. She seeks venues for community outreach and has goals to raise awareness and funds to cure PTEN Mutations like our Cowden’s Syndrome, and other rare diseases. She strives to be an athlete. The same thrill of competition that creates great anxiety, lights a fire deep in her soul. She also has hopes, standards, and expectations for herself. She actually, most days, can do a lot of the parenting work without me. But, sometimes when those dreams and goals are forced to pause, and rest for whatever issue is going after the body at that time, its nice to remember the words of Dumbledore, “It does not do to dwell on dreams and forget to live. Remember that.”

Exact, precise language. That is how my girl likes it. We sometimes kid that she will be an attorney. At the very least, an advocate for herself, and maybe others. There is little gray area with Meghan. She likes people who are kind. She does not like people who are not. End of story.

Or is it? In this age of adolescence there are times when lines are clear, and times when they are blurry. Emotions run high. There are times when things are said, and done that are deliberate, and mean and awful, and other times where things FEEL deliberate and mean and awful where that was not the intention.

That changes things for the speaker, but rarely for the recipient. With intent being often left to the interpretation of the recipient, words can cut more sharply than a sword, and pierce the soul and the spirit. Words hold great power.

The absence of words, those kind sentiments, thought, but never spoken, can injure as well.

My girl is far from perfect. I myself am far from perfect. We have many conversations between ourselves about the power of words. Sometimes we hurt each other’s feelings. Usually we talk it through. Our relationship invariably gets stronger.

That’s because we speak. And we hear. So many times when words have hurt, a conversation could clarify so much. An honest reflection that not a single one of us is perfect in our speech or actions is invaluable for growth. Friendships grow, not over text messages through an iPhone screen, or photo exchanges… friendships grow when we take the time to talk, and laugh, and listen and hear and care.

And, perhaps many times, when you are lonely or simply alone, those are the times words, or their absence, can hold the greatest power.

Nature vs. Nurture.

An especially complex conversation in light of genetic discoveries happening every day.

In this house my daughter, although she first learned of it as she turned 8, was born with Cowden’s Syndrome- a PTEN Mutation leading to a high incidence of benign and malignant tumor growth. She was born with this condition, because I was born with this condition. That statistics and numbers are real. They are hard core. They are disturbing.

A 2012 article about PTEN related cancer risks.

However, because we are BORN with this Syndrome, it does not mean we will develop every possible manifestation. We have AVMs and thyroid issues, and lipomas, but of yet, no colon issues at all. I had breast cancer, early stage. So did my mom who is not a PTEN patient. We have large head size, but not autism. You get the idea.

I believe we are born with certain things. I believe that Meghan and I were born with Cowden’s Syndrome, and I even have theories about its origin.

I also believe that EVERYONE has something. We are either born with it, or it develops. Whether it is a physical ailment, or an unfortunate circumstance, there are forces affecting each of us.

Life is not smooth. But within life there are choices. Every day there are choices.

Choose kindness.

Choose compassion.

Choose love.

Choose forgiveness.

Choose happiness.

Choose to find your “Never Give UP.”

Choose to trust.

Choose to take risks.

Choose to care.

Choose to push yourself.

Choose to believe you can.

Knowing, that sometimes those choices will hurt. Sometimes they will leave you angry or even furious.

Know in your heart that those are the only choices.

As you “grow to be…” it is those choices that will help you navigate the path to be the very best version of yourself.

Some people go their whole lives and never meet their hero. I gave birth to mine, and her stamina and drive continue to inspire me daily.

#beatingcowdens

Rare Disease Day Video 2016

Published on February 28, 2017February 28, 2017 by beatingcowdensLeave a comment

In honor of #WRDD2017 I’m sharing Meghan’s video from 2016. So much of our lives with this rare disease is lived behind the scenes. Sometimes it’s an important part of advocacy to let it be seen, heard, and felt.

Music- “Pressure” by Billy Joel

“Corner of the Sky”- Pippin soundtrack

Rare, Invisible, Real – Jeans for Rare Genes 3

Published on February 20, 2017February 20, 2017 by beatingcowdens1 Comment

We were worried. Attendance was at an all-time low. We had picked a bad weekend, but it was too late to change it.

We took the event off “eventbrite” this year, looking to take the fees they collect and get them to the PTEN Foundation.

It took a whole lot of record keeping, but it was worth it.

We had an “Early Bird Special” and free T-shirts. We opted for a new venue, a deluxe buffet brunch, and beer, wine and sangria for the grown ups.

After months of planning, of soliciting donations, of advertising, Emailing, and distributing flyers, we had exhausted every avenue we knew.

We received so many generous donations that were accompanied by, “I wish I could, but..”

We received so many well-wishes and positive thoughts from genuine people.

But, in the end we were looking at attendance numbers far lower than last year.

We had excellent baskets – Some were gathered by friends and family. Others were given as donations, and many were put together by my loving husband.

Meghan and I wrote out and carefully planned what we wanted to say.

She opted this year to stray from her pattern of creating videos, and she created a Power Point of the year in review instead.

But, as late as that morning the text and phone calls kept coming from people who could not make it.

We walked into the room anxious. Not sure of how the day would go.

We should not have worried.

What this crowd may have lacked in volume they more than made up for in LOVE, SUPPORT, GENEROSITY, and COMPASSION.

They were from all areas of our lives. There were family. There were lots of cousins. There were friends. There were colleagues. There was Meghan’s Physical Therapist, her math teacher, and her former paraprofessional. There were friends of friends. There was Charlie Balloons, and a DJ whose services had been paid by some dear friends as a donation.

There were 42 raffle baskets, and a 50/50. The money generated just from those two things was mind-blowing.

There were 2 schools, PS1 with cousin Kim, and Holy Rosary with our friend Christal, that each raised over $400 at their schools for the cause.

We laughed. We drank. We ate. We talked. Kids danced with balloon creations. There were musical chairs and fun. There was pure love in the room.

When Meghan and I spoke there was silence. Attention. Focus.

Cowden’s Syndrome is understood by this crowd, because of us.

And there stood my daughter, telling this crowd of 100+ that she was tired of “Living with Cowden’s Syndrome.” She “put Cowden’s Syndrome on notice.” She told it, it was time to “keep up with her.” She’s got things to do. Places to go. People to see. She’s growing up right before my eyes.

Not long ago she was a scared and confused 8 year old. Now she is a wise, and mature beyond her years, 13-year-old young woman. She wants the PTEN Foundation to flourish. She wants research, a patient database, and even a cure. She’s 13. There is time to get it right for her, and all the young ones being diagnosed after her. She has drive and ambition.

She chose a song to end her speech. She chose “Let it Go” from Frozen. She toyed around with a few songs, but this is the one that spoke to her, at this moment. This one got to her heart. And you could tell, as she belted it out acapella.

In the end, as people with full bellies, and big smiles, hugged us goodbye, they spoke of “next year.” They said this one was “the best yet.” We felt loved and full of gratitude.

And as we sorted through the finances, we were struck with something amazing. Jeans for Rare Genes 3 would be making a cumulative donation of just over $12,000 to the PTEN Foundation. This love, this event, these people, the generosity of so many, had generated an amazing amount.

Our hearts are full of gratitude.

A donation of over $12,000 to the PTEN Foundation. Because of you.

Thank you for valuing a cause that matters so much to my family. Thank you for loving us. Thank you for supporting us from near and far. Thank you for your never-ending generosity. Thank you for your prayers and good wishes.

Because of you we remain #beatingcowdens!

Thank you!

Rare Disease Day- Video Recap

Published on February 10, 2017February 10, 2017 by beatingcowdens1 Comment

There will be no video this year. It was time for a change of pace. But, I thought it appropriate to post these here, now. She keeps me grounded. She keeps me going.

And then there was this…

http://blog.silive.com/gracelyns_chronicles/2017/02/inspirational_staten_islander.html

Together we remain

#beatingcowdens

Enjoy!

Inspirational Staten Islander 2016

Published on January 15, 2017January 15, 2017 by beatingcowdens3 Comments

An inspiration provokes a desire in you to be a better human. An inspiration can be any age, race, gender or creed. An inspiration speaks to your soul through their actions, and their behaviors. Words are always secondary to actions.

A role model may be an inspiration, someone you want to emulate, whether they are family, friend, or famous. Often we put the word “inspirational” to a sports figure, singer, or movie star, but all too often we are disappointed by those high up in positions of fame and fortune.

Inspirational people, the ones who change lives, tend to be regular people who we interface with often. Coaches come quickly to mind as inspirational. Teammates who are there to lift us up and share our shining moments and disappointments come to mind as well. In some cases teachers can inspire us, by lighting a fire, or a love of learning, or a passion about a topic or a zest for knowledge.

I am fortunate to know many inspirational people. Most of them would be confused if I named them. They are typically the people out in the world doing their jobs, living their lives, and passionately giving their all to whatever task is theirs.

So many of you who read these words on a regular basis, inspire us to remain #beatingcowdens.

Last week I was notified that Meghan was nominated as “Inspirational Staten Islander of 2016.” This nomination was connected to her selection as “Staten Islander of the Month” in February 2016. There was quite a list of remarkable, inspirational, every-day people on that list. I read the article top to bottom and was truly, inspired.

Inspirational Islander Poll

But, Meghan is MY inspiration. She is MY reason, my WHY. I would not lie and ever say she or I are PERFECT, because no one is. But we do pretty well together, supporting each other. And, when I’m about done pushing, one look at her face inspires me to keep on keeping on.

There was a week of voting, by people who clearly felt a particular nominee was the most inspirational. It was a week of watching the polls as family and friends voted alongside. By Monday she had a significant lead. We were humbled. By Tuesday afternoon as we sat in an MRI for her knee in Manhattan, she was behind. Roller Coaster. It was hard to react with the knowledge that each nominee indeed was inspirational. And, winning or losing, would not increase or decrease the value of the other nominees inspirational acts.

Voting was to close at noon Wednesday. I sat up Tuesday night to vote for MY inspiration, as often as I was allowed. But, at some point I became very anxious, and I stopped and I prayed. I asked for guidance as to when it was time to just walk away. I asked for a clear sign.

At about 2:15 AM on Wednesday the 11th, I received a Facebook Message from Destinee Moe. This young lady was running the poll right behind Meghan and I just wasn’t sure how it was going to end. This is a text of the message.

Hello Mrs.Ortega I’m Destinee Moe one of the nominees for Inspirational Islander Of 2016. I just want you and your daughter to know how truly inspiring she is! I could never be as strong as Meghan she going through a lot and still manages to smile! It’s truly an honor to be able to run against someone so strong I wouldn’t want anyone else to win this race she truly inspires me to be a strong young adult ! Best of luck to both of you and hope everything is well with Meghan keeping her in my prayers.

And I cried. Right there in front of my computer screen. There was the sign I had prayed for. There was a soul so inspiring she was looking for the good in others she was racing against. There was a meaningful inspiration.

I responded to her as best I could.

It’s funny I would catch your message at this hour, as years of parenting a sick little one, have left me able to function on not too much rest. I really appreciate your message, as everything I have read about you indicates you are of the same strength of character as my daughter. It is inspiring to me when young women like the two of you show leadership qualities at such a young age. This whole experience, win or lose, has been an incredible journey for her. Today she learned to balance her morning swim, with an honors schedule, and then a 2 hour MRI for the knee that caused her 6 surgeries and still gives her grief, followed by 2 more hours in traffic, significant homework, and keeping a close eye on the voting in between. This young lady I have is truly my inspiration, as her early diagnosis indeed saved my life. However, each story I read was inspirational and it renews my faith in people, and Staten Island. All the best to you as well. It will be behind us all in just a few hours. I have no doubt yours will be a name of influence to look for in the coming years. Stay true. All the best, Lori

She replied once more and I went to bed soon after. When I woke the next day, Meghan held onto a lead into the noon cut-off.

By 12:45 there was a congratulatory message from Destinee:

Congratulations I really hope this pushes her even more to be the strong Inspiring young lady she is. Have a bless day , Destinee

Meghan won the popular vote as “Inspirational Staten Islander of 2016,” and we all got a clearer sense that inspiration is all around us, sometimes coming out from the most unlikely places.

After all she endures on a regular basis, my Meghan’s one goal was to further awareness of Rare and Genetic Diseases, while getting the word out for her upcoming fundraiser. Multi-tasking is necessary to follow her schedule.

Meghan remains humbled by the gravity of the congratulatory messages coming her way. Just as she was touched deeply by the message from the nominee closest to her in the polls.

There are so many life lessons, so many inspirational people, so many teachable moments – if only we look.

Meghan attained the title of “Inspirational Staten Islander 2016” and she will use it as best she can to raise awareness of Cowden’s Syndrome, PTEN Mutations and other Rare Diseases. She will also walk away with a few valuable life lessons.

We remain

#BeatingCowdens!

Click HERE to read the ARTICLE! (It’s a really good article! 😉 )

Choose Positive….

Published on December 26, 2016 by beatingcowdensLeave a comment

The day after Christmas in our house is reserved for a blissful amount of peaceful rest. A few loads of laundry, a simple meal, late sleeping, playing with some new “toys,” recovery, and reflection fill the hours. It is a wonderful, necessary day to pause and recharge.

I am awestruck by how fast days blend into weeks, and months, and even years. My girl is now a young lady. A young lady of 13 years old with the fall devoted to High School Applications, academic honors, hours of swimming, and some drama (class) thrown in for good measure. It was a crazy season, but a remarkable, beautiful time of transformation.

I don’t get time to write as much as I used to. But, truthfully, you don’t need to hear from me all that often to follow along. The writing remains my way to sort out life. I feel fortunate that so many of you come along for the ride.

So much of our journey #beatingcowdens is couched in perspective. We talk so much about the realities of everyone’s life. We talk about the things people endure that we can not fathom, and we talk about how hard it is to have some of the conversations necessary in the life of my 13-year-old. We talk. Often. And perhaps that is the first of many blessing I have.

My girl has become a young woman through a path that is different from most her age. Notice, I deliberately chose the word “different” as we are careful not to measure things in “better” or “worse.” The medical drama unfolded at a fast, furious pace, most concentrated in the years from 8 to 12. And we held fast through each one, but then, slowly, the dramas began to slow down.

At first we didn’t want to say anything. There is the fear of “jinxing” the situation. When medical drama is your “normal” you don’t really know how to live any other way. It sounds bizarre. You want so desperately to be rid of it, but the relief of losing it would be so intense, that to relax and then have it hit you again could be crushing. So you stay on your guard. All the time. But sometimes when you do that you can get a little… I don’t know, isolated, alone, rough?

There is a security connected to living in a state of medical drama. At least you know what to expect.

But, it’s not a place to hang out when you don’t need to.

Meghan’s last biopsy was in July. The follow-up is this week. My last surgery was in August. And, in a turn of events here, I have spent the last few months in vocal therapy sorting out ways to work around the tumor that desires to strip me of my ability to communicate. We’ve had some success, and last week even amidst a terrible head cold, my voice made it with me all the way to Friday.

And it was on that very Friday morning, as I drove Meghan to a 5:30 AM swim practice, with my head-splitting and my nose running, that I told her how lucky I felt. She may have checked me for fever, to see if I had totally lost it. But I explained – a year ago facing Christmas break without her having been knocked down at least once by something major was an impossible dream. This year, she had done more than ever before, and seems to be getting stronger. That morning I was grateful that I was able to get my butt out of bed, to take her to the place she loves, so she could work on the sport she loves.

This fall we have successfully removed 2 stomach medications that were previously necessary for survival. And, we are well on our way to eliminating a third. There is nutrition, exercise, and natural alternatives in their place. And it is working.

She came home a few weeks ago with a perfect attendance certificate for the month of October. I save everything. I think that may have been her first. These are the things that keep us in perspective.

We have a “doctor cycle” among us now. The knee needs to be checked again, MRI, and two knee doctors. There are clinical exams, GI follow-up and endocrinology. The afternoons these next 6 weeks will be swallowed up with trips to NYC. I’ll add in some appointments of my own, as I prepare for vocal cord surgery, tentatively set, but not yet confirmed. We’ll keep swimming, literally and figuratively. We’ll hold each other up, and we will do something a little different. We will, instead of fitting out lives into the doctors, we will fit the doctors into us.

Raising kids, one, two, three, four, or more- regardless of gender, or age combination each holds unique rewards and challenges. We have our moments, my girl and I, when we challenge each other to the best we can be. Sometimes its deep conversation. Sometimes it’s a little less pretty. But, we do it. We learn and we grow together.

I find myself often, missing relatives who are not here with us anymore. I miss conversations, deep and thoughtful. I miss shared laughs, and the pride they felt and showed. I understand, and comprehend their lives are changed, their eternal lives are more beautiful than I can imagine. But, I still miss them.

I sometimes shuffle around a bit in circles in my mind, feeling a little lonely, a little unsteady, and a little unsure of how to break the cycle.

And even at those loneliest points I take solace at the people in my life who are there. Their own lives keep us from day-to-day interface, but they are there, forming that net that will catch me, or us, if we were to fall. They weave a web through our lives that give us such confidence and gratitude, that I can only hope they feel the same way about us.

As we begin to get heavy into the preparations for Jeans for Rare Genes 3, it is a time to get focused. I am not a huge fan of New Year’s Resolutions. A wise friend recently reminded me a calendar is not necessary to begin change.

Choose positive. That is my simple focus. I will not be perfect at it. But, I will work tirelessly. I will be positive, hopefully not to the point of irritating, but when given the opportunity to face a new situation, I will work to find the positive.

Cowden’s Syndrome will toss us curve balls for the rest of our days. I’ve never been much of a baseball player, but I plan to practice my swing. And just in case- I’ll keep a helmet on as well.

May the culmination of 2016 lead us to gratitude for all the positives it brought, and gratitude for the negatives as well. May it leave us with the reminders of the blessings in our lives. Only in appreciation of al of it can we ever move forward. And really, forward is the only direction I choose to travel.