Cowden’s – Page 24 – beatingcowdens

Moving Forward

Published on May 16, 2013May 16, 2013 by beatingcowdensLeave a comment

May 16th for years has had a special place in my heart.

In 1985 my cousin Meghan was born. I was in the 6th grade and giddy to get to know her. I never could have known at the time that her life would be tragically cut short after a more than 4 year battle with leukemia.

"Angel Meghan" - 1987 — “Angel Meghan” – 1987

Her feisty nature, her smile, her spirit, and her strength have always been an inspiration to me, and it was an honor years later, to be able to name my daughter after the spirited young girl who became an angel at 6 and a half, on my 18th birthday.

My daughter carries so many of the characteristics that endeared my cousin to me. She is the same kind of spirit, who lights up a room, and makes everyone smile by being around them. She endures medical procedures sparsely batting an eye, and accepts the reality of her life with grace.

Last year on May 16th I was at NYU hospital, just 10 weeks after my bilateral mastectomy, undergoing a complete hysterectomy. I knew that day I had the prayers of my family, and the strength of my angel by my side.

I have a “thing” for dates. I remember numbers. Maybe this is how my love of math shows through. I like answers, and things that are absolute, or make some sense. Maybe my recognition of dates, and anniversaries is a way of marking time – or maybe its a way of celebrating. These anniversaries that I remember – some sad, others bittersweet, have shaped me as a person. They are all pieces of that every evolving puzzle.

I thought about the surgery this morning. I thought about it being a full year since all my “girl parts” were officially gone. I thought of the perils of the hysterectomy recovery and how in so many ways this was a tougher surgery for me. Then I thought about my relief, and how much less of a cancer risk I am than I was a year ago. And I got dressed with a smile.

I thought about Angelina Jolie. I thought about how happy I am for her – that she was able to make an empowered decision to get out in front of her breast cancer risk. I thought about how happy I am that she has brought genetic testing into light.

But a few things have really bothered me.

PTEN mutations (Cowden’s Syndrome and the sister disorders) carry with them the same imminent breast cancer risk. I myself had been tested for BRCA1 years before I ever knew of PTEN. I was negative. The genetic counselor who tested me did not even have PTEN on her radar screen. I know its rare – I do. But I have to believe this is the opportune time to at least educate the medical professionals, if not the public, on the reality that there are other genetic mutations that carry imminent cancer risks. I am sure there are more that I haven’t learned about yet. Let’s use this opportunity to raise awareness not only of the “popular” genetic mutations, but of the others as well. Had my daughter never been diagnosed, by the well educated geneticist – it is likely I would not be here to write this today.

I am also bothered by the haters. You know the haters. The “Monday morning quarterbacks.”

They have crept out in quantity and I have a few words for them too.

BUTT OUT!

If you don’t like the idea of a prophylactic mastectomy – then don’t have one. Plain and simple.

If you don’t like the idea of a complete hysterectomy at 38 because the alternative was 4x a year – yes you read that right- 4x a year SURGICAL uterine biopsies, then don’t have one.

When you live with the Sword of Damocles hanging above your head every day, when you have to go about your business, and work, and raise a child, and pay bills, and shop and function with the feeling of impending doom that is sometimes hard to shake – when you have a diagnosis of a genetic mutation that is not going away no matter what you do. Then, maybe then you and I can talk.

Until then, wish Angelina a good long healthy life. Look up “genetic mutations that cause cancer” or “The Global Genes Project” or “The National Association for Rare Disorders.” Get a feel for what we go through every single day of our lives.

You probably wouldn’t know us if you passed us on the street. We are some of the strongest and bravest and smartest people you will ever lay eyes on. We stop and smell the roses. We hug. We smile. We laugh. We get how fleeting life is.

May 16th will always be a significant day for me.

But, moving forward -so will every day. The first year is over. Now on with the rest of our lives!

************************************************************

In case you are interested…

http://idioms.thefreedictionary.com/a+sword+of+Damocles+hangs+over+head (Sword of Damocles)

http://globalgenes.org/ (Global Genes Project)

http://www.rarediseases.org/ (National Association of Rare Disorders)

https://www.facebook.com/ptenworld?fref=ts (Facebook Page for PTEN world)

Prophylactic Bilateral Mastectomy – Not just for the movie stars

Published on May 14, 2013May 14, 2013 by beatingcowdens8 Comments

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#

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.

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.

“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!”

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.

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!”

“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.

Collateral Damage

Published on May 4, 2013May 4, 2013 by beatingcowdens1 Comment

In regard to surgery and absences – this year has been much better for both of us… Maybe some things are looking up. (Published June 8,2012)

beatingcowdens

Collateral damageoccurs when something incidental to the intended target is damaged during an attack. (Wikipedia)

I don’t think it’s far-fetched toequate Cowden’s Syndrome to a war.

Our bodies are under attack. This PTEN (tumor suppressor gene) is broken, and we are being bombarded with cellular overgrowth in the form of all sorts of tumors – benign and malignant.

We spend our days, (and some of our nights) strategizing on how to prevent, fight, or get rid of these tumors.

It can be an all-consuming job.

When we have to have the tumors removed there is the recovery time, which can seem endless. The battle scars, which forever change the landscape of our bodies also take some getting used to.

There is the financial drain, from lost wages, and the endless battles of medical bills are a war onto themselves.

There is…

View original post 337 more words

History – Where it all began

Published on May 1, 2013 by beatingcowdensLeave a comment

Yep. That’s what it is. It’s history. The story of our lives for the past year. It started in a small blog I shared only with a few friends. It blossomed into a WordPress blog with 50 followers, and a Facebook group with over 225.

I am humbled really – that anyone is even interested in our story.

I am grateful and excited for what we are doing to raise awareness of rare diseases like our Cowden’s Syndrome.

I wrote my very first blog post on May 9th of 2012.

Very few of you were with me then – but this is where it all began.

For the next two weeks I plan to “replay” some of my favorite/most informative blogs from the early days.

Hope my nostalgia doesn’t drive anyone away!

CLICK ON THE LINK BELOW FOR A TRIP BACK TO MAY OF 2012!

https://beatingcowdens.com/2012/05/09/

All kinds of tests

Published on April 16, 2013 by beatingcowdens5 Comments

So my fourth grader told me today that her State Exam was “tricky,” but she thought she got only 2 wrong.

I have absolutely no idea if her assessment is accurate. I am only grateful that for one afternoon, her anxiety was lower.

Last night before she went to bed, we spoke a lot about testing, and my expectations for her.

As I have said before stress, and chronic illness just don’t mix, so I am careful with my words.

So, I explained to her that her best – regardless of the attached number – will ALWAYS be good enough for her father and I.

Wise beyond her years, she quoted a former teacher who apparently told them, “Your best is good enough for your parents. Your best is good enough for me. Now make sure your best is good enough for you.” This followed by a cheery, “Chill out – You got this!”

As she lay her head down, last night, and tonight, she repeated those words to me.

There really are so many teachers who “get it.” The kids are so much more than any number on a piece of paper.

It is such a challenge being on the parent end of things.

But, at the end of the day, these aren’t the tests that matter to me. Not really.

On Monday the 1st of April there were 13 vials of blood. On Saturday the 6th there were 15 more.

This weekend there was a 24 hour urine test, and 7 more vials of blood before school Monday.

These are the tests that keep me up at night.

These are the tests she has no control over.

These are the tests whose scores really do matter.

Hormones, Thyroid, neurotransmitters, immune function…etc… etc…

The results for the school tests won’t be in until August.

Some time in the next week I will have to deal with this latest lab panel, and determine if we have any new answers, or just more questions.

Perspective is a definite reality check sometimes.

She will go to school and do her best, and I know regardless – she is already successful.

I only wish I could hold onto that same confidence, as I await these lab tests.

The Circle of Three

Published on April 14, 2013 by beatingcowdens2 Comments

My heart and soul. My circle of strength.

A few weeks ago Felix mentioned he might like to have a denim ribbon pendant to wear.

They are modeled off the Global Genes Project logo, “Hope it’s in our genes!”

He wanted to be able to show his support for Meghan and I all the time.

So, we had another one made and I gave it to him for our anniversary.

I didn’t imagine the effect it would have on me.

What a magical thing to see the ones you love most joined with a symbol of support.

Symbols are just symbols I know – but what they symbolize can still be powerful.

Felix gives us the motivation, the strength, and the courage to say “I can.”

He makes us laugh. He holds our hands.

He is as much a part of this Cowden’s Syndrome journey as we are.

We are three but we are one.

Now, near or far we remain connected.

There are no “superpowers” in these denim ribbons…

Well, unless you count LOVE, GRATITUDE, COURAGE, STRENGTH, and HOPE!

Our Digital Footprint

Published on April 13, 2013 by beatingcowdensLeave a comment

Tomorrow Felix and I will be married 13 years. While in some ways 13 years seems like a long time – in other ways I sparsely remember that there was life before I married my best friend.

And as compatible as we are, anyone who knows us is aware that we are as different as day and night in so many ways. One of those ways is the internet.

I facebook. I blog. I Email. I communicate with people I know well, and people I have never met. He doesn’t. He communicates live and in person (and sometimes on the phone) with the small circle of people he loves.

In the world of digital footprints, I have to imagine that mine and Meghan’s are substantially larger than that of my husband. And with that knowledge comes the need to sometimes remind myself of what I already know – there is no privacy on the internet.

We live in a suburb of a big city – unique in the fact that 6 degrees of separation can easily be played – and usually can serve to connect “natives” in far less than 6 tries.

That means, that every post, every writing, every thought, every sentiment that I choose to make public will be read by people who know me, people don’t, people who like me, and people who don’t.

I have begun to “clean up” and clean out my private facebook account. Life is about balance. My husband wonders why I want to stay connected to people I don’t see or even know. Well, many of them hold a special place in my heart – whatever the reason. Many are very dear to me. But, some I really wouldn’t know if I passed them on the street. Do they care when my girl is at swim practice? Or that my anniversary is tomorrow? Or that we have a new church? Or a new school? The answer truly is – probably not.

So how does all this connect to Beating Cowden’s?

Well, here’s how I see it. I started this blog to raise awareness of a Rare Disease. – one that has changed my life and that of my daughter, and my whole family. I wanted to get the word out that this 1 in 200,000 disorder was wreaking havoc on our lives, and we are working to control it.

Then, as I became more educated, I wanted to expose people to the world of Rare Diseases. The reality that we are among the lucky ones has been a potent lesson.

I want people to know that Rare Diseases are not always visible. That even though we don’t “look sick,” the suffering is part of daily life.

These realities have made some people uncomfortable, and have brought some others closer to us. Lessons learned. Life changes.

So when I blog, I try to focus on my own experiences, but without fail they are intertwined with Meghan’s. What can I do to protect her? Not too much.

She wants this blog to continue. She is proud to be part of an awareness raising effort. So, I have given her editing privileges and the constant reminder that once I hit “publish” I can not take it back.

I think in some ways this level of awareness will help her – when she takes more control of her own digital footprint.

“Beating Cowden’s” is about our daily struggles – sometimes with doctors, our bodies, medical tests, surgeries, and just people in general.

I have thought so much about privacy, and how it is almost a work of fiction these days. I have worried about hurting people’s feelings on my private page – but I am starting to get over it.

If you make a conscious choice to put yourself out there – there has to be a purpose. And, you have to be willing to stand behind every word you type.

There is no privacy on the internet.

Beating Cowden’s will continue as a means to raise awareness of a virtually unheard of Rare Disease.

My own personal Facebook page will take a bit of an overhaul in the next few weeks.

Don’t take offense.

I am just getting our feet ready for spring!

Maybe…

Published on April 10, 2013 by beatingcowdens2 Comments

And that is what we took.

Stuck in a corner – a stifling corner, with anxiety, and all of its evil friends – we decided to break free.

And I can not think of a better thing we could have done.

Today was Meghan’s 3rd full day at her new school, and while she misses her friends – she is adjusting beautifully to the welcoming students and professionals that have greeted her.

She received an outstanding foundation at her old school – teachers who worked alongside her right up until we made the move last week. She received a foundation from them that will allow her to soar here.

I am eternally grateful.

But there is a time for moving on.

Sometimes it happens neatly at the end of 5th grade. And sometimes it happens before that. This was her time.

Which shouldn’t surprise anyone because nothing really seems to be wrapped up in a neat little organized package – not in life, and certainly not in Cowden’s Syndrome.

She changed schools, but the Syndrome stays. And sometimes that’s a hard reality to swallow.

See she is so excited to meet new children, and to run and play and socialize – we hoped that maybe the release of tension would eliminate the pain. It took a few days for the pain to catch up. But, it moved too. It lives with her – no matter what school. Although I am convinced it is less than it was.

Stress is evil. Tension is its nasty twin. The conbination wreaked havoc on her already struggling body.

Now, there is much less stress and tension, but there is still pain. A knot in the hip that doesn’t want to quit is pestering her still. And while I am grateful that the tolerance is higher, I am not sure if the pain is any less.

Any time an injury lingers, or a pain persists for more than 2 weeks – even if it is intermittent – we have to ask ourselves if it is time to go for imaging.

Xrays are not good for Cowden’s Syndrome. Radiation can send our sensitive cells into a tailspin. And the alternative – MRIs, are taxing – on everyone. But how long do you wait for a pain to go away when you have a syndrome that provokes tumor growth? How do you know what is the right time?

We scheduled the summer appointments. I was hoping to wait until then for all the check ups and tests.

Somehow, I suspect we will have to see someone a bit sooner.

But, I am stalling. Maybe the happiness will cure it.

Maybe swim season – her first ever competitive sport she ADORES – will straighten it out.

Maybe.. just maybe… we won’t have to add one more confused doctor to the list of clueless professionals who don’t know how to help us anyway.

Maybe… her blood results from Dr. Elice will come in this week, and maybe there will be an answer or two.

Maybe…

Maybe I will just go fill up my wine glass again.

Thinking outside the box

Published on March 22, 2013 by beatingcowdens4 Comments

And so began the week that was.

A “simple” annual review – not so much. But that’s OK. Mamma Bear remained calm. I am most strategic that way.

I am however exhausted, and facing another battle.

It was a bit of a struggle to keep the chin up this week, as I often felt like her:

But, I didn’t act like her. Not even once. (Well once I cried – but I got yanked past it.) And that’s about all of that story I can share here, for now.

But these last few ~~weeks~~ months, have left me with a lot of questions.

See, there is this constant battle to do what is right, or what I perceive to be right, as I advocate for Meghan, and for my family. But inevitably, because I am so introspective – I am left with a ton of questions at every fork in the road.

Last week when we took her to 4 doctors and an ER about her shoulder, I ended up being told I went to the wrong ER – that we didn’t belong there. But it is a cancer center, she is already a thyroid patient there, and my child grows things. While we are blessed that none have been cancer yet – I am not of the “wait and see mentality.” But, still I paused and wondered if I had done something wrong.

In the end, the rheumatologist gave her a muscle relaxant. We began rehabilitative PT and I am seeing progress. The shoulder and neck remain wickedly sensitive – but she has back almost full range of motion.

Still we watch the lump behind her shoulder blade, in hopes it continues to decrease in size and doesn’t turn out to be the “soft tissue tumor” we were advised to look out for.

Really – no one has even a bit of a clue. And it is often just downright exhausting.

Physical Therapy this week was refreshing. At least I deal with professionals who have made themselves aware of Meghan’s needs and focus with a goal of eliminating, or severely managing, her pain. Thank God we found them.

Because of them, Meghan will swim in her meet tomorrow. No freestyle – it hurts the neck. But that was OK with her.

Backstroke seems by far to be her favorite. I love watching her swim. She seems so at peace.

It gives me a time to break from all the questions. The wondering. The worry.

It is easy to doubt yourself sometimes when so many things are changing at once. Whether you are precipitating the change, or reacting to it out of necessity, when there is so much at once I think it is normal to wonder.

We are not super difficult to get along with. Yet we go through doctors like a toddler goes through shoes. We have very few close friends – confidants to be trusted. Those who will be honest and open minded. We spend a lot of time alone. We get along really well – thank goodness.

I think what we look for is doctors, friends, associates, people who can practice:

I just wish there were more. No one really fits in a box. And that’s not just us, and our “rare disease.” Everyone is unique, and special. Everyone needs to be looked at with a fresh pair of eyes. Everyone needs to be viewed through the perspective of the other person. Only when we start to look at things through someone else’s point of view do we solve anything.

It is the outside the box thinkers that solve IEP problems, medical problems, friendship concerns, desires to make the world better…

Daring to think outside the box is risky. It is hard. It is necessary.

Especially in this season of “test prep” where I have seen this scenario one too many times…

Mine, yours, all of them – they are individuals. They have specific needs. We should never be discouraged when advocating for them and their needs.

In many cases – we are their only voice. We MUST think outside the box for them.

Mamma Bear

Published on March 17, 2013March 17, 2013 by beatingcowdensLeave a comment

Tomorrow is Meghan’s annual review for her IEP meeting.

It should have been an easy meeting. Continuation of PT and the paraprofessional until her triennial next year.

The Cowden’s Syndrome clearly warrants PT. We already have 2 sessions a week outside, and THEY want her to receive additional services inside the school.

She hurts, (by her own words)

https://beatingcowdens.com/2013/03/03/moving-backwards/ (This is a link to a speech she gave in school)

all the time. Some days she is just able to make the best of it.

Last week we lost 2 days of school (and work.) We saw 5 doctors, including an ER in those 2 days because of severe pain and virtual immobility in the left shoulder. No obvious trauma. Just the life of a 9 year old with Cowden’s Syndrome.

Cowden’s Syndrome can often be accompanied by hypermobile joints, making injury during daily activities much easier.

Cowden’s Syndrome is also a condition of over exaggeration by every body part. The smallest injury warrants a full, and sometimes incapacitating inflammatory reaction.

We manage a lot of things with Celebrex. But it is not a miracle drug.

We can not keep her in a bubble. She is 9 and wants to run and play.

But, that doesn’t mean her PT needs “don’t affect school function.” They do affect it – in so many ways.

So that is my job tomorrow. To get my point across. To speak for my girl.

Mamma bear is almost ready…