Soft Lock Downs and other things that shouldn’t be…

Published on September 20, 2014September 20, 2014 by beatingcowdens2 Comments

I spent the weekend with my college roommate. She was the one I lived with the longest. She was the one who introduced herself to me the first day. She held me 2 months later as I was wracked in sobs at the loss of my cousin Meghan on my 18th birthday. She learned how to drive in my Toyota. We had fun, shared friends, and life, and got to know each other in deep ways saved for long term friends – or ones you’ve lived with. We gathered enough good dirt on each other to be sure we’d be friends forever.

The last time I saw her was in December. She and her husband showed up at the wake for my Dad.

The time before that was when I made it out to the wake for her Mom.

Somehow we find each other…

And this weekend we hugged first on Friday, in that room in New Jersey, miles away from each of our homes. We cried, and hugged and pulled it together. As the scene was replaying itself again. But this time it was far worse.

College Graduation - 1995 — College Graduation – 1995

It’s not right that we don’t see each other. And it’s no one’s “fault.” And I have a few dear friends I am in the same situation with – whose kids I’d barely recognize if it weren’t for Facebook and Instagram.

We stood together for a while, just the two of us. Interrupted only by people trickling by. We spoke about his fight. His strength. His battle. I told her how much I respected all he did to fight. I told her I was so privileged to have shared a few email exchanges after he took to this blog.

But, from where we stood, in the out of the way corner that defined her comfort zone, we might have even forgotten why we were there.

Although the reality became apparent through the greetings, and the hugs, and the “I’m so sorry…” sincerely sent in her direction, over and over.

Her little brother had died. Her “little” brother was little in age, not in height or spirit. He had a presence about him 20 years ago when I greeted him in our dorm room. When he spent time with us. His charm, and sincerity, and personality resonated even then.

Her “little” brother was 36. Diagnosed with stage 4 pancreatic cancer months ago, he fought with every fiber of his soul, through every treatment and surgery presented. He fought for his family, for his wife of 10 years, and for his two handsome young sons. He fought out of zest and a love of life. He fought for his siblings and his Dad.

I remember when she and I spoke this summer. I remember the conversation because she asked me a question I didn’t want to answer, but one I had needed to ask myself months earlier. She asked how long it had been for my Dad, from the time he was diagnosed until the end. And as I choked over 10 weeks, I instinctively tried to fill that statement with stupid things… “he’s young, there are things he can do…” But, she had heard a number. Just as I had when I had asked the question months earlier.

And I kept an eye on the calendar as I checked in on my friend. And every day I thought of her. I prayed often for her brother, and the family.

Sunday came the text that he wouldn’t make the week.

Tuesday came the one that said he was no longer suffering.

Friday rolled into today, and we sat. Side by side in a standing room only funeral parlor. We hung onto each other’s hands and friends and family alike shared stories, and memories of a guy who seemed to have been larger than life. And my favorite story of the day came when they said he went back to college after he had his boys. And he got his Master’s Degree too. Not for financial gain, but because, “How can I hold my boys to a higher standard than I hold myself to?” Class. His spirit filled the room. There was an abundance of support, and love.

And then we were at this backyard party at her brother’s house. And to the naked eye it could have seemed like any end of summer gathering. But it wasn’t. People were eating, and sharing stories, and passing time together. And two handsome blond boys ran about with their friends.

And then there will be tomorrow. And this young woman, now a widow, will need to press on for her boys. And those boys will slowly come to the realization that Daddy is never coming home. And his sisters to the reality that he won’t be at the next gathering, and his Dad to the realization that his son and his wife have now gone on before him – leaving him with lots to take care of.

36 years old. Father of 2. Dead from Pancreatic Cancer. Illogical. Incomprehensible. Insidious, painful, horror show of a disease. It just doesn’t make sense.

At all.

And there have been so many things that don’t make sense. Ever. They pale in comparison to the horror of a son and a brother, and a father dying out of order, yet still they are the things that keep me wondering about all things.

I think it was Wednesday at work.

I had a first grade class. And the loudspeaker went something like this, “This is a soft lock down drill. Please take all proper steps.”

And just like that 28 first grade students instinctively went to the back corner of my room. The stayed low and quiet as I shut the lights and the smart board and locked the door. They got themselves out of sight of the glass window on my door. And they sat. Silently. And I was stunned. I think it was the 10th day of school. They range from 5 to 6 years in age. And they never moved. They looked to me for a reassuring face. I faked it.

Truth is as necessary as I know they are – I HATE those things. And in this post 9/11 world, littered with countless nonsensical school shootings, and deaths, I get it. And I take it seriously. And the reality that one day we COULD be a target of chaos doesn’t escape me. But that doesn’t mean I have to LIKE it. I don’t like that we need to scare the crap out of these little ones just in case. They are growing up in a wild world.

So wild that when Meghan’s Social Studies homework became to be aware of the news every day, (something we actively have tried to hide her from because there is just enough CRAP in her life) one of the first stories to come across was terror threats in Times Square. She gets things very quickly. And she is stellar at context clues. Dad’s in Times Square every day.

These kids are growing up in a tough world. Grown up worries. Grown up realities. Young minds. It’s so hard to make any sense of it at all.

And so when the ones who are supposed to help -just don’t, well that seems to make things worse.

In the middle of the renovations that swallowed the end of August, Meghan broke her foot. A stress fracture to one of the superficial top bones. I am absolutely not getting “Mother of the Year”” for this, because I was in full on “suck it up we have things to do” mode for the first 36 hours after she banged the foot hard into a misplaced shelf in the basement. That was a Thursday night. And by Saturday of Labor Day weekend, we found ourselves in Urgent Care with a “suspicion of fracture.” Of course being a holiday that simply meant ice, rest and elevate till Tuesday when we could get to the podiatrist.

And we brought the X-ray, and the report. And everyone was very pleasant and we were told that the X-ray abnormality didn’t exactly line up with the point of severe pain. So, clinically it was appropriate to diagnose a stress fracture, put her in a boot, and have her repeat the X-ray in 2 weeks.

So she began middle school days after getting her braces off, with this giant black boot on her leg. And she plugged along for two weeks, and we got the X-ray repeated as we were told to. So, when we returned to the office for the recheck we gave them the disk and the report.

There was some grumbling about the radiology place we went to writing the “worst” reports (but no one told us where to go,) and some discussion in the other room about things on the film that were “probably nothing.” (Doctors should learn some moms have rabbit ears.)

So he came into the room after having had Meghan take off the boot. There was a surgical resident in tow.

“How does the foot feel?”

Meghan, “Much better.”

“Great, there’s no evidence of fracture on the x-ray. You must have healed. Let’s transition you off the boot.”

Please know during this whole exchange he NEVER EXAMINED HER FOOT!

Me, having already read the X-ray report, ” What about the report talking about “bony bridging and bordering sclerosis.?” Does that mean anything?”

“Well, it’s not causing her pain is it?”

Me,”Well she doesn’t have foot pain, per se, but, there is chronic joint/muscle/bone pain that we work on. Could things being out of order in the foot trigger some of this?”

Me,”I guess really what I’m asking is, is anything on that X-Ray consistent with Cowden’s Syndrome?”

“Well does Cowden’s Syndrome cause bony overgrowth?”

Me, “You’re the doctor, I am asking you.”

“But you are far more familiar with the syndrome than I am.”

Me, in my own brain, Thanks to Google University, and then out loud, “Are you seeing this? (pointing to the extra bone that juts out of her left (and right) feet) on the X-ray?”

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=201 ( You may have to cut and paste the link)

(THAT IS A PAGE FROM A WEBSITE, reviewed by a doctor at the cutting edge of PTEN research. It took me less than 10 seconds to find. It verifies bone cysts connected to Cowden’s Syndrome, and had anyone asked I would have been able to tell them about the “non-ossifying fibroma” in the left femur that scared the crap out of us when she was 2.)

“I don’t think so, but you should probably have a specialist look at that. I don’t need to see her again.”

GOOOOOOOOOOD THIIIIING!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

And I turn to see the tiniest tear in the corner of Meghan’s eye…. “Mom, he never even touched my foot. He has no idea what the problem really is. What’s the point of wearing the boot? I have to trust my own body cause they don’t know anything. I think its healed and the boot is hurting my knee.”

Fair enough.

She’s the closest I have to a doctor, and the thing that has made the most sense all week.

When you have a diagnosis that leaves you prepped for cancers of all types at all ages and in all places, there are things that rock you to your core.

Sometimes living with PTEN Hamartoma Tumor Syndrome is like living under the constant threat of a terrorist attack. But the terrorist is cancer.

You get to live in fear, or live your life.

You get to try and make sense of things, or run with them anyway.

With the motivation of those – not connected to us by Cowden’s, but connected to us by life – who have fought the good fight, I try to stay focused. To live life instead of hiding in a corner, or some days under the bed with the lights off…

So many things, so many tragedies will never make sense.

But it’s less about making sense, and more about being sensible. It’s about instinct. And love, and compassion. And cures. I am a big fan of cures.

Tonight, wherever you are in your life. Whatever is rattling your world, I ask you to stop for a minute.

Say a prayer for those two little boys who will begin to know that Daddy is never coming home.

Say a prayer for a family who lost a 36 year old high quality man too soon.

And please. In this world that makes no sense. Do something logical. And kind. For someone. Cause we ALL need it.

Champions of HOPE

Published on July 8, 2014July 8, 2014 by beatingcowdensLeave a comment

It’s no secret that we have been followers of “The Global Genes Project” since our diagnosis in 2011. Meghan fell in love immediately with the denim ribbon, and their slogan, “HOPE it’s in our Genes!” That play on words stuck with her, and the ribbon gave her a good deal of connection at a time when we weren’t sure if we’d ever connect with another soul with “Cowden’s Syndrome.” The connection with the RARE Community at large carried us through those earliest days.

The end of 2011 and well, 2012, and… well, you get the idea… held some tumultuous times for our family.

Adjusting to the diagnosis was not easy. Finding balance within the labels, and the risks, and the screenings, and the surgeries, and the appointments was (and sometimes still is) a struggle. In the months when the diagnosis was at its newest, Meghan’s thyroid was called into question several times. We discovered nodules we never knew were there and learned the early risks of thyroid cancer were real, and ever-present.

She soon underwent the most horrendous of what would be 4 thyroid biopsies over the next 2 years. Scarred physically and emotionally, we began to wonder about this beast we were up against.

In February of 2012 Meghan had her 4th knee surgery for an AVM (arteriovenous malformation) in her right knee. Now convinced it’s stubborness could be credited to Cowden’s Syndrome, the fight to control it’s growth took on a whole new meaning, and we were referred for consultation to Boston Children’s Hospital.

While we balanced the screenings for Meghan, I was sent to my own set of initial screenings. Being 38 and newly diagnosed, I was in the battle full on, and I had had no idea. All the imminent cancer risks associated with Cowden’s Syndrome – except for the thyroid which often comes earlier – seem to peak right around 40. No stranger to doctors, I was trying to figure out how the diagnosis helped explain the roadmap that was my own medical history.

In March of 2012, I underwent what was to be a “prophylactic bilateral mastectomy,” to battle the 85% breast cancer risk I had with the PTEN mutation that caused Cowden’s Syndrome, and my own medical history which had already seen 7 increasingly suspicious breast biopsies. Seven days later, while having my drains removed, my husband and daughter sat in the room as the doctor announce it was a “good thing we moved when we did.” My left breast, the one that had never seen a scalpel, had 1 centimeter of DCIS, close to the nipple and clear of the chest wall. I had breast cancer. They found it by accident. My aggressive, intelligent surgeon, who I met because of my diagnosis, and really BECAUSE of my daughter had saved my life. I needed no treatment.

I left the room that day holding the two people I love more than anything. Unaware of the plans clearly in place for us, I was so filled with gratitude, and so in awe of the reality that if I had never had Meghan, I would have likely never known. And the surgeon’s words, “If we had waited till July like you had wanted, you would have been in a fight for your life,” still ring in my ears. Sometimes you have to stop the “what ifs?” and just say “thank you.”

Ten weeks later I was back in the hospital for a complete hysterectomy. A suspicious uterine polyp, enlarged ovaries, and Cowden’s Syndrome combined again for too great of a risk, and the recommendation was for surgery and quickly.

The shock on my body, the trauma to my family at this point was intense.

I had begun to scour the internet looking for places to go. I found http://www.PTENworld.com and its dynamic young moderator, a Cowden’s patient for many years. I found Facebook, and a beautiful support network there. I found a yahoo group, and a mom there who has consistently gone above and beyond for me, simply out of goodness. Finally, there were real people I could talk to.

One day that Spring I received a Pandora necklace with a pink ribbons on it. After years of advocating for my mother, a bilateral breast cancer survivor, holding the pink ribbons that belonged to me felt strange. Yet, so did the new boobs, smaller, but perkier than the old ones, and all the clothes I was learning no longer would fit quite right. So, I took comfort in that necklace and I wore it a lot.

And one day my very obsevant girl, who was 8 at the time, a few months shy of 9, asked me “What stands for me? The gold ribbon is for childhood cancer, the pink ribbon is for breast cancer, the puzzle piece is for autism. What about me? What about people like me who are dealing with this (Rare disease) every day? I NEED something mom. Not to have a thing, but for my identity.”

Stunned, as usual. I realized I had begun to heal myself, to seek comfort for myself, but I was leaving her behind.

So I happened to be retelling the story at lunch. And my teacher friend, whose husband is a jeweler, and who has a son with autism, really “got it” on so many levels. She told me she’d talk to her husband and see what was around. So I gave her a denim ribbon sticker from the Global Genes Project, and they were on a hunt. Which turned up nothing. There seemed to be no piece of jewelry worldwide to symbolize those with Rare Genetic Disorders. And, with there being over 7,000 RARE dieseases, accounting for almost 10% of the population, to us this was silly.

So my friend’s husband offered to make one. For Meghan. Because if she wanted a piece for her “identity” she should have one. So he did. It took months. And it was perfect. Absolutely perfect. And he was so generous in the donation of his time, all to light up my girl’s world.

Typical Meghan, no less that 5 minutes after she put it on, she started with, “Wouldn’t it be great Mom, if these were available all over the world, and then we could see them when we went places, and we would know the people who have, or love people with RARE diseases?’ And the conversation continued to include asking me to reach out to The Global Genes Project to try and make it a reality.

Well two years have gone by. Felix and I each wear one too. Only 3 ever made. Until recently.

There have been lots of EMails exchanged. Lots of conversations. Lots of people. Ultimately they did decide to have the necklace made, and while the decision thrilled me, I would be lying if I said that I wasn’t disappointed that they couldn’t use our friend, the jeweler. But, business decisions are what they are, and this one was not in my control. And, despite that disappointment, Meghan’s dream, her vision, is becoming reality. We received 2 samples this week, and a “THANK YOU” from the team at Global Genes! The necklaces will be on sale through http://www.globalgenes.org in the fall!

Two years have gone by.

I have developed deeper, closer “long distance” relationships with some “kindred spirits” in the Cowden’s Community – globally!

My girl has some of her own friends with Cowden’s now, spread across the world. She will be 11 soon, and is quite the young lady. She understands life on levels deeper than she should. Most impressively she understands that despite our struggles, there are many in the world who struggle in heart, mind, body, and soul. She knows that “Everyone has SOMETHING!”

This past year she organized an assembly at our school. She worked with Student Council to arrange an evening fund raiser. She partnered with a friend in her own class who has a RARE Disease. We sold T-Shirts. We received intense support from faculty, and parents and students. Every child got a denim ribbon to wear for RARE Disease Day. We sent thousands of dollars to The Global Genes Project.

She has already begun to plan for next year, and wants a much bigger fund raiser. “At a place Mom.” We can really get the word out and raise money. For The Global Genes Project http://globalgenes.org/, and for the newly founded PTEN Hamartoma Tumor Syndrome Foundation http://www.ptenfoundation.org/, another organization close to our hearts.

She has a mind that never stops. She has the heart and voice of an advocate. And this year, she was nominated for the TEEN Advocacy Award at The Global Genes Project. (If you scroll down, the teens are close to the bottom.)

http://globalgenes.org/2014-rare-champions-of-hope-nominees/

Champions of HOPE indeed. So proud of her. So proud to see her name with all the others who have decided to “Do Something.”

“HOPE it’s in our Genes!”

We are BEATINGCOWDENS!

“A Friend in Borough Hall”

Published on March 28, 2014 by beatingcowdens7 Comments

Meghan received a special invitation a few weeks back. She kept quiet about it – even though she was bursting at the seems.

On February 27th, as we were preparing for Rare Disease Day, Meghan met and shared her story with Borough President James Oddo. They hit it off instantly, and spoke like old friends for quite some time before he broke away to introduce the “Readers are Leaders” Campaign to our school.

More about their meeting here:

https://beatingcowdens.com/2014/02/27/rare-disease-day-2014-through-meghans-eyes/

Well after their extended conversation, the Borough President gave Meghan his Email address and reminded her she had a “friend in Borough Hall.”

They exchanged Emails at least once, and Meghan was THRILLED to receive an invitation to sit with the Borough President AT Borough Hall – 4PM, March 28th.

And the make the whole thing even more exciting, her efforts on advocacy and awareness and fundraising earned her the nomination for NY1 “Staten Islander of the Week.” (More on that segment which will air next Friday to follow.)

We arrived early, a rarity for us, but this was a REALLY big deal. Meghan had carefully selected a few gifts for the Borough President which were tucked in my bag. She proudly donned her “previvor” tee, and we sat anxiously in the comfortable waiting room.

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

We were given a tour of the basement and first floors, and showered with some gifts by “AJ.” A giant help, and a generally nice guy.

Meghan and "AJ" our helpful tour guide! — Meghan and “AJ” our helpful tour guide!

Then, it was time.

Meghan and I were greeted with hugs by our warm and extremely genuine Borough President. He repeatedly introduced Meghan as his friend. He told stories of how she inspires him. His staff and constituents walked in and out, joined the conversation, and came and went, as if a 10 year old in the office was a normal occurrence. They talked about health and advocacy, about her denim ribbon necklace, and her Cowden’s Syndrome Awareness card. They talked about her surgeries and her medical struggles, but also about reading, and literature, and the healing power of dogs. They have quite a lot in common and my heart sang to watch my 10 year old in the arm chair hold her own with a well-respected politician as if they had been friends for years.

The NY1 interview was comfortable. She speaks clearly, and flashes an award winning smile.

Meghan gave Borough President a rock with the word “courage” in it, after he shared a touching story with her.

He reminded her if she needs anything, she is to contact him directly. And as the year goes on as she thinks of new ways to spread the word about Rare Diseases, he will help in any way he can.

Her eyes brightened. Her goals got larger.

“You can be angry, or you can DO something, So I decided to DO something,” she told the reporter.

And she did.

And she will.

Watch out world.

Thank you Borough President Oddo. Staten Island is in good hands. You are one of the good guys.

And the body says… SLOW DOWN!

Published on February 23, 2014 by beatingcowdens5 Comments

So it’s almost 2 AM on Sunday. And I have to say, I didn’t see this one coming.

This is the part where I remind people over and over that just because you CAN live without a body part, doesn’t mean your body doesn’t miss it when its gone. I mean we were made in one piece…

So the recovery was going pretty well, but that’s mostly due to her feisty determination.

But there is a point where you look back over the last 9 days and consider a few major things. That point came at about 4, and 5 , and 6 this afternoon as she was violently and quickly vomiting herself into dehydration.

If you consider that there was the stress and worry of HOW we were going to get to the surgery, then the brief pleasant stay at Ronald McDonald House, followed by a 4 hour surgical delay, coupled with a less than smooth hospital stay that had its share of communication issues… you start to get a sense of the stress that has been this February “vacation.”

Sorry we didn't send a post card, but it was a blast ... — Sorry we didn’t send a post card, but it was a blast …

Really it extends way farther back than that… but rather than bore you again with all the back story I’ll stay current.

So on the 13th the thyroid came out. It was a three hour procedure with lots of general anesthesia junk for my pretty organic girl. Then there was the whole removing an actual PART of her body. And then there was the introduction of the synthetic replacement hormone. And there was lots of fidgeting with calcium levels. And there were narcotic pain meds for a few days too to keep the edge off.

And at some point around 4 today her body had had enough.

I love when Meghan vomits and people say, “Is she sick?” And I say “nope.” Rarely, (knock on wood – NOW please) does Meghan get a “stomach virus,” but she’s not a stranger to vomiting. She vomits when her body has had enough.

And today, her stomach hurt. Her knees hurt. Her hips hurt. Today I couldn’t keep the pedialyte in cause it all happened so fast. And, since there’s a first time for everything – we actually had to go to the ER for fluids. Except she’s Meghan. And she’s only a bit over a week post op. And they just wanted to be careful… so she’s asleep in the bed. I am typing away as I won’t even attempt to sleep until after the 3 AM meds.

And after the ER was over and we came up to the floor for a bed – in a place we have spent some time before- we passed by the NICU where she started her life in 2003. While I was reflecting I looked at our nurse and thought she looked a little familiar. Once she told me her name I was incredibly grateful I had been kind to her son when he was in my 5th grade class some (AHEM 13 – or more) years ago. You never know when you’ll need Karma on your side…

And now this poor, lovely nurse was left to contend with my daughter, reading package inserts and discussing medications before they were given. Meghan talks a lot. But I didn’t feel guilty about that part (GRIN.)

So the fluids kicked in and she began to perk up. She had time to share with the doctors and the nurse her denim ribbons, her Cowden’s card, AND her movie for RARE Disease Day. They want us to bring them some ribbons for the floor.

Me, I got my nutrients in my – thank goodness I always stuff a meal bar and an EShot into my bag… ALWAYS. That knocked that pounding headache right out.

She bounces back. Quickly. But sometimes a little too well. I have to watch her. Determination can’t do it all. The body has to help too. And as strong and tough as she is, we all need to be reminded that, well she has this RARE Genetic Disorder called PTEN Hamartoma Tumor Syndrome… or Cowden’s Syndrome… and well, even though we may not always want to admit it – that darned syndrome can make life a little extra tricky.

Tick Tock

Published on July 26, 2013July 26, 2013 by beatingcowdens4 Comments

I actually watched it happen. We were walking up the hill to swim practice last night. Then she was limping.

She handed me her bag – struggling to balance. Before I could ask what had happened…

“My hip, my groin, the whole thing!” Gesturing near her hip bone and down her outer thigh.

I looked for a bench but there was none. She wasn’t interested anyway.

“We can’t sit – I will be late for practice!” Exasperated that I would even think she should stop walking while writhing in pain.

“Um, Meg – I was thinking you shouldn’t go to practice.”

“No way! We are here. I am going, and besides- the only time I feel close to normal, like everyone else – is in the water.”

We took away soccer.

We took away dance.

We can’t take away swimming.

So I made sure she asked her coach to help her stretch the hip. She stopped only once during the hour and fifteen minutes. I am sure I could not have kept up.

As I walked, and she limped back to the car she said it was, “not so bad.” And, she was “glad” she practiced.

Dedication. Admirable. Torture.

After the shower it all fell apart quickly. She froze almost completely. We rubbed it, and elevated it. Within an hour she needed help walking.

She got settled into our bed and tried to rub her hip.

The yelp indicated the pain on her hand and wrist has not subsided either.

As we got her comfortable I thought forward, about the week to come.

I emailed her genetecist and her oncologist this week. I attached photos of her hand. I attached the copies of the MRI report. They responded inside of a few hours.

Biopsy those lesions. On this they agreed. Cowden’s Syndrome -PTEN Hamartoma Tumor Syndrome. Soft tissue tumors are common. The oncologist reminded me only one lesion was visible during her exam just 2 weeks ago.

I know. I watched the other one pop out as she cried out in pain during a shopping trip to Kohl’s. It wasn’t there. Then it was. Now it is. And it hurts too.

Tuesday we will see an orthopedist. Thursday we will see a hand surgeon. Two more doctors we didn’t plan for. Two more afternoons lost waiting. Two more opinions to contend with.

And the prevailing uncertainty that anyone will ever fix the problem.

She is walking a bit better tonight. That is encouraging. A nice afternoon with a friend. Conversation for me was easy and comfortable. Grown up talk – something I have craved, while the children swam in the pool. Almost normal for a few hours there. Almost.

The car is going to stay in the “car doctor” over the weekend. Apparently its condition has been downgraded.

Paperwork to begin a complaint with Better Business Bureau should arrive early next week.

Maybe I should give the CAR an ISAGENIX shake or meal bar. It might be more productive than what is being done to it.

Monday we should know more.

Monday we should also hear from the rheumatologist about her thoughts on the MRI.

Sandwiched in between concerns about family and friends alike. In some ways our lives are miles different. In more ways – they are exactly alike.

Patience. Worry. Anxiety.

Tick Tock, Tick Tock… that would be the sound of summer passing us by….

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.

Respect the Spleen

Published on December 9, 2012 by beatingcowdens3 Comments

I should be sleeping. It is 1:30 AM. This is my second post for the night, because I can’t stop and sort out the overflow in my head any other way.

Maybe you have been following the saga of my poor spleen… or not. Either way, my spleen has issues. Or, rather, my doctors have issues with my spleen.

The first time the hamartomas were detected on my spleen was probably when I had an abdominal ultrasound as a screening after my diagnosis. When I saw my oncologist in August, she wanted an MRI done of the spleen so she could have a basis for future comparison. When she called me with the results in August she was ready to send me for a surgical consult, based on the significant size of the 4 hamartomas (courtesy of Cowden’s Syndrome – aka PTEN Hamartoma Tumor Syndrome) on my spleen. Since the spleen itself is only about 11 cm long, the hamartomas across the top equaled or exceeded the length of the spleen. At the time, I was coming off of a double mastectomy in March, and a hysterectomy in May. She was forcing my hand to schedule a colonoscopy (which I did,) but I pleaded with her for 6 more months with my spleen. Reluctantly, she agreed.

So, when I had the car accident and I was sent for an abdominal ultrasound, that started the whole process over again. The oncologist looked at the report and ordered an MRI. I went for the MRI and tried to set up the surgical consult. The surgeon, who is a surgical oncologist, thinks the spleen needs to come out, but he wants me to see a different surgeon to see if it could possibly done through laproscopy first. But, he wants to talk to my oncologist before he will set up an appointment to even evaluate my case, and my oncologist spent last week in California at a conference.

So, instead of February… it is now December, and I am waiting. Waiting to have the fate of my spleen determined.

Well meaning people say to me, “Don’t worry – you can live without your spleen.”

Sometimes well meaning people should smile and nod more, and speak less.

Yes, I KNOW I can LIVE without my spleen. You can also LIVE without your boobs, your uterus, your cervix and your ovaries. You can LIVE without your gall bladder, and your appendix, and your thyroid, and one kidney, and part of your liver or lung too. But, just because you CAN do something, doesn’t mean you should.

I am thinking of asking for a fake fish for Christmas. One that will remind me I have been gutted like a fish this year. One that will also remind me that, no matter how many body parts they take, you have to KEEP SWIMMING!

Monday or Tuesday I will talk to a doctor about my spleen. I would love to keep it. I just think we have gotten along nicely for the last 39 years. And, its mine. But, I will listen to the doctors (after I ask them EVERY hard question I have,) and I will do what is best, and safest.

Heck, I didn’t go through all of this past year to be beaten by my spleen….