Genetic disorder – Page 10

I believe…

Published on May 22, 2013 by beatingcowdensLeave a comment

I believe that there are lessons to be learned from every event in life- especially the ones that don’t turn out like we plan.

I believe in looking for the positives; when plans change without warning, when people disappoint us, when we are thrust onto paths we never wanted to travel and into circles we never knew existed.

I believe that our indoctrination into the world of Rare Diseases came with an invitation to sit back or step forward. We choose to step forward. I believe we will make a difference.

I believe in prayer, and God, and miracles, and angels – and I am not ashamed or embarrassed to say so.

I believe in a God that doesn’t plan for bad things to happen, and who cries with us when they do. I believe that same God will give us the strength to get through the trials and tragedies and all our adversity – if only we ask.

I believe in angels, and speak regularly of my cousin Meghan, our guardian angel. But, I also believe there are armies of angels around us. I am thinking especially today about the father and his 4-year-old daughter that were hit by a fire truck at the same intersection I had my accident in November. Nothing short of angels pulled them both from the car – shaken and banged up, but very much alive.

I believe in miracles-large and small. I have witnessed at least one large one, when my sister’s beautiful niece pulled through a very scary life threatening virus 2 years ago. I believe that miracles happen every day – all around us. But every day I witness miracles, as the flowers bud, and the birds fly, and the children grow.

I believe that adversity can only define us if we let it. Our struggles surely shape us, as we grow each day – but how we handle them affects us, and the people around us. I believe that Cowden’s Syndrome – through my daughter’s diagnosis, saved my life. I believe that PTEN mutations, and broken tumor suppressor genes are scary – but not “hide under the bed” scary. They are more like “you can try that roller coaster you don’t like” scary.

I believe we are allowed to be frustrated and sad and angry and mad. Every single one of us – sometimes. I believe that life can be very, very, very hard. Overwhelming at times. But, I also believe in doing my best to channel that energy, and teaching my daughter to do the same.

I believe in smiling more than frowning. I tell Meghan that she will draw more people to her with a smile on her face. She listens.

I believe that good things can come from unexpected change. New friendships and old ones become more solid when tested. People you never expected can go to bat for you – and look out for you.

I believe in surrounding myself with people who are “real.” Who say what they mean, and mean what they say. I believe in surrounding myself with people who have all types of beliefs, as long as they have a kind heart and are true to themselves.

I believe in speaking out about my own life, and my own experiences; whether they are medical, allergies, emotional, physical because keeping them inside doesn’t help a soul.

I believe writing helps me channel my own energy into a productive outlet. I believe I will spend every day on this earth in some way thinking, addressing, or working through a medical issue for Meghan or I. I believe – if I stay focused it will not consume me. (Although from time to time I may need some help!)

I believe that people who are only in this life to gossip and spread lies and false information are toxic.

I have made a pact to rid my life of toxins. I believe with a lot of determination it can be done!

Keep on, Keeping on!

Published on May 20, 2013 by beatingcowdens2 Comments

Several months ago I wrote about “The Beginning of the End” Meghan was having trouble keeping us at dancing school. The pain kept getting out in front of her.

https://beatingcowdens.com/2013/03/25/i-fear-this-is-the-beginning-of-the-end/

While in some ways the decrease in stress these last few months, plus the return of Physical Therapy twice a week, have helped her pain – but, it became increasingly evident dance was just not meant to be.

She was sick, and missed class. Then she was hurting, and missed another class. She missed the dress rehearsal and trophy night because she was home from school with a low fever. Always seems to be something.

So as we headed out to “Candyland” yesterday morning, we all knew it would be her last recital. The dancing takes a toll on her joints that it would be foolish to keep repeating. But, that didn’t dampen the mood on the soggy Sunday. Meghan was ready.

We started her day with the electrolytes from Isagenix that help her so much. Then we left her backstage at the theatre with all the other dancers.

It can get long when your dancer is in number 25 in a show of 27 acts, but I find the other dances entertaining, and before we knew it – she was on stage, ready to shine.

There was no pain evident in that body as the rush of being on stage overwhelmed her. She smiled and moved in ways my body just never could – or would.

When I met her at the stage door to bring her to her waiting father and grandparents, I had some flowers in hand for a job well done. She knew this was it for her, but as always – she kept looking forward. “I will get on stage again Mom. Maybe in Junior High, maybe in a theater program. I can’t keep dancing, but I love the stage.”

We took lots of great pictures. We cherished the memories. We enjoyed a nice lunch of Gluten Free pizza.

Yesterday was a rush

Today came the pain. The elbows, the knees. An epsom salt bath, and some relaxation. It helped some, but its hard to tell. She is so used to the pain.

And as she headed to bed, “How many weeks until my swim lessons start?”

Cowden’s Syndrome, you SOB. You may have me exhausted, but you picked a worthy adversary in my girl. She will not go quietly. She WILL win.

“Beatingcowdens” Not just a blog title, but a way of life.

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)

Puzzle Piece

Published on May 9, 2013May 10, 2013 by beatingcowdens3 Comments

I remember being much younger and loving puzzles. We would set them out on the table at home and everyone would take some time trying to get it going. They were big and had lots of pieces and were often slow going at first. Everything looked the same, and sometimes it could take hours to fit in a few pieces.

Then, over the next few days, and sometimes weeks, with everyone taking a turn, slowly the picture would start to take shape and the puzzle would come together. It was always so exciting once you could make out the features, and so much easier to plug in the missing pieces.

I remember the feeling of satisfaction as one would be completed. There was something especially gratifying about those last few pieces. It was that feeling of satisfaction. We set out minds to this. It took a few of us, but we got it done. We figured it out – together.

By now you can probably see where I am going with this.

Today marks one year since I wrote my first blog post in 2012.

In one year the posts I have written have been read over 30,000 times. People have stopped by to read some – or all of our journey with Cowden’s Syndrome.

I have met other Cowden’s Sufferers through this blog, and on the internet. I have received messages, and corresponded with quite a few. I have learned their stories, and heard about their puzzles.

I have also “met” a few with other puzzling disorders,figuring life out and getting by one day at a time.

I am ~~sometimes~~ forever humbled, and amazed by the odd and abstract idea that people who I don’t know have gotten to know us, and used us as pieces to help complete their own puzzles.

I noticed a link on my blog today from “pinterest.” Having never been to the website, I clicked the link to find a picture of my family. http://pinterest.com/pin/290974825894950598/

I was pleased that it was used in its proper context, and was mentioned in terms of rare diseases. But, I was still amazed. Someone had read, and linked, and…

Well, the possibilities are endless. Thank goodness for the internet.

Where else would I meet people from all over the world,. and swap stories about a genetic disorder with an occurence rate of 1 in 200,000? Where else would I find organizations like

PTEN World https://www.facebook.com/ptenworld?fref=ts

The Global Genes Project https://www.facebook.com/globalgenesproject?fref=ts

This last year of blogging has been an awakening for me. It has opened my eyes to so many other people, their stories, and the world at my fingertips. Since our diagnosis in the fall of 2011 it has become so important to become aware, to gain support, to advocate for others, and for ourselves.

I remember working on puzzles as a little girl. I remember that feeling of satisfaction when the puzzle was complete and the picture was clear.

I don’t do those kind of puzzles anymore.

Now I figure out how to prepare 2,000 denim ribbons and get them distributed on time for Rare Disease Day.

Now I work on helping my girl find her place in this world – trying to be a “regular” kid, yet undergoing so many more stressors than any 9 year old should.

I work on puzzles that lead us from one doctor to another, dropping them like leaves off the trees on a fall day.

I work on puzzling questions, and I persist until I get answers.

I get overwhelmed sometimes – looking for the pieces I can’t seem to find.

Sometimes I want the puzzle to have its edges all done, the way I learned. I want it to be neat. I would like all the matching colors to go together

But, that isn’t how life is designed to be. Not with Cowden’s Syndrome.

Not for any of us really.

Maybe it’s not a puzzle – but more of a domino game… branching off in so many different directions. Occasionally stopped by a dead end – only to find another path.

Or maybe it’s just a puzzle of an “atypical” sort. Not one that actually fits in a box. One that requires patience, time, dedication and focus.

In front of me tonight are 22 pages of blood work drawn on my daughter over the last month. There are some definite issues. My phone consult with her doctor is a week away. In the mean time I am left to try to put it together the best way that I can.

I handle each piece delicately, gingerly. I don’t want to damage anything, or miss anything either.

There is no picture, no model to duplicate. There are no directions. No guide. Just instincts. Prayer. Love and support of friends far and near.

Tonight I will study until I can figure out one more piece. Then there will be tomorrow.

The journey is long. The puzzle evolves. I am not going anywhere.

Thanks for sticking around.

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!

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.

I fear this is the beginning of the end…

Published on March 25, 2013March 25, 2013 by beatingcowdens5 Comments

… of dance class that is.

It sounds so dramatic. I guess maybe its not such a big deal. But today it feels like one more thing on a list Cowden’s Syndrome has robbed her of.

Meghan was never going to be a performance dancer. She wasn’t going to do ballet for hours. But, for the last 3 years, she has taken one dance class a week.

First recital - 2011 — First recital – 2011

Hip Hop.

Not because she knows the music, but rather because they dance in sneakers – and that is better for her joints.

I can’t say enough good things about the studio. The owner is a compassionate, kind, professional, lovely woman who strives to make every child feel like a million bucks. She revels in their accomplishments. She celebrates every ability level. She truly loves children, and dance.

This place is the perfect fit for Meghan.

Her joints acted up in the fall. She missed a month before she could get it back together. No worries – no sweat.

A few weeks ago she twisted an ankle at dance. Xrays, a sprain. A week or two off.

Then there was the shoulder thing. Not dance related – but it still cost her some time.

And then tonight. I picked her up from class and her flushed face told the story before her teacher had to.

“She hurt her hand, but we don’t know how.”

I do.

EFF YOU COWDENS!

So, I took her home. There was a shower, and some ice. Nothing more than a light sprain I am sure. But her back hurt too. So we put her to bed very gently. And we spoke about maybe finding ways to increase swimming instead of maintaining dance.

The recital though is such a rush. She loves it. She loves being on stage – the energy. The celebration.

On stage - May 2012 — On stage – May 2012

Physical Therapy tomorrow morning. We will let Dr. Jill input her thoughts – although I already know them.

She is pretty good when she dances. She is a quick study. She has made so much progress. And she has some moves. (Those are NOT from me!)

She will ultimately get to decide. Although its probably for the best to back out now – before she really gets hurt. The final decision will be hers. So I say.

In reality the final decision has been made by Cowden’s Syndrome, and its ruthless attack on her joints and muscles, and connective tissue.

She is resting peacefully – for now. But I am cranky.

Things tend to work out as they should, but I am still waiting for this little girl…(young woman…AAAKK!) to catch a break…

Happy Birthday to my boobs!

Published on March 4, 2013March 4, 2013 by beatingcowdens12 Comments

Remember where you were a year ago?

I do.

A year ago this evening I was pacing the floors. Making sure Meghan was packed for school. Triple checking my hospital bag. Planning my last meal by midnight, and pacing the floors – quite sure I wouldn’t sleep.

I was right.

I hadn’t arrived at that moment in my life by accident. It was the result of years of breast biopsies for suspicious masses. MRIs, sonograms, mammograms – and a mother who was a bilateral breast cancer survivor. Not to mention my diagnosis of Cowden’s Syndrome that had been confirmed only months before I met the warm, caring, and decisive surgeon that was about to remove part of my body. Don’t wait till the summer – she somehow convinced me. March 5th. Get it done.

One year ago, on the morning of March 5th 2012, after vomiting repeatedly from terror, my husband and I left and headed to NYU hospital for my “prophylactic bilateral mastectomy.”

We checked in by 6 AM. I can remember every detail of the morning. It is imprinted in my subconsciousness. It may fade over time – but for now…

My brother in law called my cell phone by six. We prayed together. Then, I just focused on breathing.

Checking in takes forever. Everyone stopping in. Lots of waiting. I paced that small room so many times I swear my footprints are probably still there.

And my husband – my pillar of strength – just waited with me. When I wanted him to pay attention – he stopped and held my hand. When I wanted him to ignore me, he dutifully read comics on his iphone. I would not have wanted to be him.

I had to explain to the resident filling out the paper that I was not having “tissue expanders” put in. Well this was not an easy concept for him. Apparently that is just what everyone does. The expanders are placed during the mastectomy, and then “filled” until the tissue expands to the size you would like, and then the silicone is placed.

Well I had already had a long talk with my plastic surgeon. I had no desire to have giant boobs. Nope. I was sure.

She can keep her award... — She can keep her award…

At 38 years old, and the mother of a nervous 8 year old, all I wanted was to leave the hospital and not have to return for another surgery. (The sweet irony of that wasn’t realized until I returned 10 weeks later for my hysterectomy… but anyway)

I had convinced the plastic surgeon to use whatever silicone implant she could – and put them right in. After a lengthy discussion, she agreed. It was more important for me to get right home to Meghan.

This resident was having a hard time wrapping his head around this, but finally we got the papers right. They were to put in whatever one of these fit best – preferably a matched pair.

Finally it was time to head to the operating room.

I have had lots and lots of surgeries, but the thought that I was engaging in such a major procedure “prophylactic-ally” was literally making me weak at the knees. Fortunately I managed to hook up with an absolutely awesome surgeon/plastic surgeon team. Two women who are talented, compassionate, and understanding. They gave me the peace of mind I needed right before the anesthesia. The last words I recall before I woke up – “You’re doing the right thing.”

They expected a “clean easy procedure.” After all I had had an MRI just a month prior to confirm I was cancer free.

Recovery from anesthesia isn’t my forte, although I have improved with experience. I got to visit with my sister, and enjoy my husband.

The peace I felt after this surgery can not be understated. I was so relieved. The storm had been calmed. It was done.

I left the hospital about 28 hours later on March 6th. I couldn’t wait to see my girl. The drains were still in place and they would stay for another week, but the hardest of the hard work was done.

So, on March 5th – my boobs are officially a year old. At least that’s the day I adopted them.

And what a year it has been.

A week after my “prophylactic” mastectomy, I held in my hands a pathology report that clearly stated I had DCIS – early stage Breast Cancer. Among the other “precancerous” conditions embedded in that report was the reality that I no longer had to be concerned with the “what if?” It was done. I was OK. By the Grace of God alone – the cancer was out before it was ever a problem. And, whenever I doubt, or get angry or frustrated by our Cowden’s Syndrome journey, I am reminded of that moment. Without Meghan, and without her diagnosis. I would have never proceeded with such an aggressive surgery. God gave me my little girl, and spared my life. We will use that gift as often as we can.

The weeks of recovery went smoothly, with lots of help from mom.

And then it seemed – no sooner was I back at work, that I was being told by another surgeon that I NEEDED a complete hysterectomy – now. So, in May we went back. This time at least everything was benign.

This is the year that included 2 surgeries for Mom and a thyroid biopsy for Meghan. It included a car accident that I am still healing from. (And the very first thing I checked after I realized I had been in an accident was that my silicone was intact!)

It included Grandma’s fall, and ongoing recovery.

It included circumstances that caused me to step away from my church, and blessings that led me to a new one.

This year I laughed deep laughs, and I cried gut wrenching tears. I got re-acquainted with old friends, and I met new friends in support groups online.

This year I learned there are some benefits to small silicone boobs… (with no nipples!) I got to go bra-less for the first time in YEARS!

This year we vowed to make a difference,

This year we gave out over 2,000 denim ribbons, and taught a whole lot of people about Cowden’s Syndrome and Rare Diseases, and the Global Genes Project.

This year was only the beginning of the rest of our lives.

One year without my old boobs. One year with the new and improved CANCER FREE version. One year of countless blessings. One year of boobs that will never sag!

HAPPY BIRTHDAY TO MY BOOBS!

Priceless!

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

Waking up before the rest of my family on a vacation day – 2 cups of caffeine.

Filling the car with gas- $50.

Traveling through the Brooklyn Battery Tunnel $13 roundtrip.

Parking for 4 hours – $25.

Two doctor Copays $20 each.

Trip across the Verazanno Bridge… about $6 with my EZpass.

But, the news from the dermatologist that I can stretch the visits a whole year, combined with the news from the breast surgeon that “everything looks great and I will see you in 6 months!”

ABSOLUTELY PRICELESS!

So we cross small hurdles gleefully.

We had 7 appointments carefully scheduled for this week to avoid time off from work/school. Three doctors apparently realized last week they have kids at home and cancelled. So this concise week of appointments will stretch a bit, but I have begun scheduling the 11 doctors and 4 scans I can remember that are due in June/July.

I will do everything in my power to consolidate them.

Cowden’s Syndrome WILL NOT run our lives.

We are actively preparing for RARE DISEASE DAY…. (FEBRUARY 28th – Get your denim ready!)

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

Don’t talk about my boobs unless you’ve walked in my shoes

Published on January 27, 2013January 27, 2013 by beatingcowdens19 Comments

“Breast cancer becomes very emotional for people, and they view a breast differently than an arm or a required body part that you use every day,” said Sarah T. Hawley, an associate professor of internal medicine at the University of Michigan. “Women feel like it’s a body part over which they totally have a choice, and they say, ‘I want to put this behind me — I don’t want to worry about it anymore.’ ”

http://well.blogs.nytimes.com/2013/01/21/facing-cancer-a-stark-choice/

The quote above is the last paragraph from a New York Times article published January 21st. I first read about it here in this blog

Preventative mastectomies under fire

And I must agree with “The Pink Underbelly” as my blood is boiling a bit.

I underwent a prophylactic bilateral mastectomy on March 5, 2012. I had been diagnosed with Cowden’s Syndrome, alongside my 8 year old daughter, just months before. I was presented, in January of 2012 with an article putting my lifetime breast cancer risk somewhere around 85%. Cowden’s Syndrome, as you all know – but I doubt the author of this article knew, is a rare genetic disorder with a 1 in 200,000 occurrence. It is a mutation on the PTEN (Tumor Suppressor) gene and causes benign and malignant tumors all over the body – with the hot spots being the breasts, uterus, and thyroid.

I made an informed decision to undergo that mastectomy. It was not a decision reached lightly. My mom is a BILATERAL breast cancer survivor, and even though she does not carry my genetic mutation, I will always believe that her decision for a complete mastectomy is the reason she is with us today – the reason she ever got to meet her grandchildren.

That doesn’t even get me started on the fact that my “prophylactic” mastectomy revealed DCIS – stage 1, a centimeter of cancer in the left breast. Yes, it was contained. No, it hadn’t spread. Yes, I was fortunate, and NO, it WAS NOT the breast that had seen 7 biopsies in the 12 years prior. This one had never been touched. And, the MRI weeks earlier did not pick up the DCIS. So, my informed decision. My smart surgeon. My gifted plastic surgeon. My husband’s support. The support of my boss. The sick days donated from a friend. My raw nerve. My desire to be there for my little girl for years and years to come. The Grace of God. All these things saved my life.

So, I get a little twisted when people infer, and imply that these are decisions made lightly. That women are just randomly having their breasts cut off. This was not a trip to Hawaii. This was not a walk in the park. This was major league, life altering, body changing surgery. There is not a woman I know, who makes this decision without intense scrutiny and research. And, thanks to this blog, and my online support group. I have “met” many of them.

This article says

“We are confronting almost an epidemic of prophylactic mastectomy,” said Dr. Isabelle Bedrosian, a surgical oncologist at M. D. Anderson Cancer Center in Houston. “I think the medical community has taken notice. We don’t have data that say oncologically this is a necessity, so why are women making this choice?”

EPIDEMIC- affecting or tending to affect a disproportionately large number of individuals within a population, community, or region at the same time <typhoid was epidemic>

Really?

and WHY?

Why not ask us?

Why not ask those of us that have lost mothers and grandmothers and sisters to genetic mutations?

Why not ask those of us who have had countless mamorgrams, MRIs and biopsies, with “suspicious” pathology?

Why not ask us, who have done the research, or read the research on diseases you haven’t even heard of?

Why not ask those of us who, facing our imminent cancer risks, have made a choice to LIVE?

So the article says:

“You’re not going to find other organs that people cut out of their bodies because they’re worried about disease,” said the medical historian Dr. Barron H. Lerner, author of “The Breast Cancer Wars” (2001). “Because breast cancer is a disease that is so emotionally charged and gets so much attention, I think at times women feel almost obligated to be as proactive as possible — that’s the culture of breast cancer.”

Damned right Barron. Proactive. We have kids to raise. Spouses to celebrate life with. Memories to make. Tears to dry. Hands to hold. Lives to live.

Emotionally charged? You bet.

Come by.

We’ll have some coffee.

Then I will tell you about my prophylactic hysterectomy. Reccomended by a top surgeon at NYU. Ten weeks after my mastectomy. Not an easy choice. Certainly not one made on emotion.

Logic. Try logic. And gratitude that the tools exist, and the surgeons exist that are willing to save our lives.

Don’t talk about my boobs until you have walked in my shoes!