Global Genes Project – Page 4

A “Guest Blogger” for our 200th Post!

Published on July 11, 2013 by beatingcowdens21 Comments

I wanted to make the 200th post of “BEATINGCOWDENS” extra special, so I asked my (almost) ten year old daughter Meghan to be the Guest Blogger!

1. How has Cowden’s Syndrome changed you?

Cowden’s Syndrome hasn’t changed me. It has always been a part of me. Knowing I have Cowden’s Syndrome has only made me more aware and more prone to understanding my body.

2. What are some things you want people to know about being a kid with Cowden’s Syndrome (PTEN Mutation)?

It’s hard not to be like other kids, but I am really glad all of the problems are found earlier than later.

3. What makes you glad you were diagnosed?

My diagnosis forced me to look at what was good for me and what wasn’t. I had to give up soccer and dance, but I LOVE swimming, and I feel like I am getting better at it every day. I am always trying to improve physically because I need to stay strong. I am glad I found a way to compete with other kids, and not always be last. I am also building swimming friendships.

4. What makes you sad/scared/ or worried you were diagnosed?

I feel more vulnerable, and sometimes a bit weaker because I can’t do everything the other kids can do. I can’t run and play outside like them. My weak immune system causes me to get more viruses, and I worry about thyroid cancer too. I try to find the positive in every negative and I don’t let worry get the best of me.

5. What is the most frustrating part of Cowden’s Syndrome?

I go to so many more appointments than any of my friends, and lots of times we have to wait forever. I keep busy at my appointments with my books, my iPad, and my Rainbow Loom. It is taking up the first few weeks of my summer vacation, and I would rather be home and bored than running back and forth to Manhattan every day!

6. Do you have any kids that you can talk to about your diagnosis?

I feel like I have three kids I can really talk to that understand. My friend Conner is in Colorado. He also has Cowden’s. He is about my age and really funny. Also, I can talk to my friend Georgia in Australia. She is also about my age, and even though we are really far away from each other, she is a very nice girl. I am glad I know her. I have been able to FACE TIME with these far away friends. Sometimes the time difference gets tricky, especially to Australia. The first time I saw Georgia it was 10PM here! We talked for over an hour!

I also have a friend on Staten Island, who I feel like I can talk to. Even though its only been a short time, I hope our friendship continues to grow.

7. What do you hope to do when you grow up?

When I grow up I want to be a genetecist.

I feel like I will know a lot about it. I also want to do agility training for dogs. Right now I have two dogs that I love very much, Allie, and Lucky. I always want to have dogs.

8. How do you plan on using your diagnosis to make a difference in the world?

I plan on making all rare diseases more well known. I want to do a movie night at my school and raise money to donate to The Global Genes Project – they help all rare diseases.

I want more people to understand rare diseases, and do more research so there can be a cure.

But, all that starts with awareness. Last year I asked my parents for something to wear, a symbol (like a pink ribbon) that would represent me, and my struggle with Cowden’s Syndrome. The Global Genes Project uses a denim ribbon and the saying “Hope It’s in Our Genes.” I really like that symbol so Mom’s friend made it into a necklace for me. It is hand engraved, and says “First of its kind.” It is really special.

A denim cause ribbon, crafted after the Global Genes Project's slogan, "Hope it's in our Genes!" — A denim cause ribbon, crafted after the Global Genes Project’s slogan, “Hope it’s in our Genes!”

Mom and Dad have one now too. One day I hope to look across the room and see someone else wearing one. I want the denim ribbon to be as popular as the “pink ribbon”

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

Hi. I’m Meghan.

I am really excited to be Guest Blogger. Life with Cowden’s is hard. I try to focus on all I can do, and like to do – especially swimming and reading. I’m an (almost) 10 year old. I wanted a normal life, but really when I think about it my life is the only one I know. Even with its cons I’m happy with it. Cowden’s Syndrome is a real pain,but its brought out the best in me. People need to be aware of these diseases. It feels great when someone understands you a tries to lend a hand.

Thanks For Reading!

Love,

Meghan

Invisible Illness

Published on July 7, 2013July 8, 2013 by beatingcowdens6 Comments

For the last 6 nights my soon to be 10 year- old has slept in between her father and I.

Now I will pause to give you time to gasp, as wave your fingers at me.

I will give you time to self-righteously proclaim that you “know better” than to put your child in your bed, because once you start “that habit” you will never be able to break it.

Go ahead. Tell me its my own fault that I don’t sleep as comfortably as I could with my 5 foot tall 85 pound child bouncing between clinging to my husband and I.

Tell me I should just send her back to her own bed.

And then – when you are done. Come over. Please. I will even make you some coffee – but you will have to settle for fake milk. No need to keep any in a house where a child has a dairy allergy.

When you come over you can watch her for a few minutes. I will let you watch as she winces in pain, and cries out as she bounces around. And that, that is after she actually gets to sleep.

See before she gets to sleep, there is pain. Always some pain. Always. But some nights, or weeks like this one, it is worse than normal.

There are nights, and plenty of them that she sleeps in her own bed. Right through until as late as we will let her. Those are the nights the pain is at its best.

Then there are the nights she needs one of us to rub her in her bed. A knee, a calf, and ankle, an elbow, a shoulder, a wrist, or even a head is keeping her up. Sure, you could say she is exaggerating. Maybe she is acting like any kid who doesn’t want to go to sleep. But Meghan is above many things, a really rotten liar. So, when she hurts – she lets us know. And when she doesn’t it never comes up – end of story.

The worst nights are the ones like this week. The ones where she can’t even get herself comfortable in her own bed. These are the nights she cries not only for the pain, but also for the raw fatigue that keeps her awake when she would rather sleep.

This week there has been pain. Pain in the legs as she adjusts to swim practice, or plays with a friend or two at a play date. There has been pain in the wrist, the pesky wrist injured now since early June. The one that has to have a problem – we just don’t know what it is – yet. The wrist in line for an MRI/MRA has a pulse to it that is reminiscent of the AVM in her knee. But we are trying not to jump the gun.

If you ever do stop by my house in the middle of the night, to see why none of us have any semblance of a normal sleeping pattern, maybe you can bring a warm compress, or strong hands, and help as we massage cramping, painful body parts.

No one knows the Meghan of 2 AM.

Everyone sees the bright smiley face.

Everyone sees the interpersonal child who talks with everyone – who makes them laugh.

Everyone sees the reader, the friend, the kid who likes quiet, and order, and rules, and helping people in need.

The Meghan of 2, or 3 AM disappears with the morning light. She washes her face, brushes her teeth, and puts on the best smile she can to prepare to face the world.

This is the story of life with chronic, invisible illness.

No one knows about the growths on her thyroid, or the insufferable hot flashes she has.

No one knows about the effort it takes her to walk up the stairs, or to sit and play with friends.

No one knows she is slated for 2 more MRIs, a pituitary function test and a pelvic sonogram – and that’s just the next 2 weeks.

No one knows because she doesn’t “look sick.”

And she wouldn’t have it any other way.

She wears her denim ribbon necklace, the one crafted after the Global Genes Project logo – every single day. And she dreams of the day she will look across a room at another little girl wearing one too.

The denim ribbon is the symbol for rare and genetic disorders, and since identifying her own need to have a “symbol” to wear, like my pink ribbon, she saw to it that one was created to be worn around her neck. She chose to have it modeled off the Global Genes Project- an organization that spoke to her heart soon after our Cowden’s Syndrome diagnosis.

We wear them now, my husband, and Meghan, and I – united in our battle. And we hope that one day there will be more.

Next month we will travel to Disney World, as we have for the last 6 years. While we are there Meghan will use a wheelchair.

Recently, when the controversy hit about the misuse of Guest Assistance Passes at Disney, I was sick to my stomach.

You see I have a child with a virtually invisible disability. She can walk, by the grace of God. She can swim. She can function throughout a day – often with insufferable pain at night.

But what she can not do is walk for long distances. Ever. Regardless of the footwear – no matter how hard we try to prepare. She just can’t.

We took her out of soccer because of the impact. We took her out of dance for the same reason. Now she swims, and even with that sometimes the muscle pain is difficult to bear.

So it is especially tricky for us at a park that necessitates walking and standing. Sometimes she can stretch her legs. Usually she can cover about a half mile on foot. Then she needs to rest. If she pushes too hard on day 1, by day 4 we might as well be back home.

She spent her birthday one year in tears, pleading with me – in the middle of EPCOT that she would go home “RIGHT NOW IF YOU COULD MAKE THE PAIN STOP.” That was the day after we let her walk 50% of the day before.

She hates being confined. She would rather walk. She looks like she should be walking. But she can’t be. Bottom line.

So as I said earlier, those of you who want to judge me for rubbing my child’s sore and aching body so she can rest – feel free. As long as we breathe she will be able to seek comfort in the arms of her mother and father.

And when you see me pushing her around Walt Disney World, I know there are the lowlives out there who abuse the policy, but before you assume that my “normal looking” child is one of them, ask yourself if you have ever met anyone with an invisible illness.

Ask yourself how many children, when given the opportunity, would rather navigate the happiest place on earth from the confines of a chair. Sure we all need a rest some time. But she’d rather have it on a bench. And while we are at it – she would rather be having an ice cream cone like the other kids too.

Just because I teach my child to go through life with her head held high. Just because I teach her to push through pain. Just because I teach her to smile at adversity and to be kind to judgmental strangers- that doesn’t mean she doesn’t hurt. None of that invalidates the 4 surgeries for the AVM in her knee, the thyroid biopsies, the constant scans, the issues yet to be uncovered.

My child knows patience. She knows how to wait. And she does it all year at countless doctors, and invasive lab tests, with grace, and poise and dignity.

So, before you forget what invisible illness looks like- look here. We are too busy BEATING COWDEN’S to acknowledge the judgmental. We teach our daughter to love and forgive. She has too much stress in her life to harbor any anger. We learn our best qualities from her.

Mother, Wife, Teacher, Advocate

Published on June 3, 2013June 4, 2013 by beatingcowdens1 Comment

First I was a daughter. A sometimes mousy, sometimes mouthy daughter. I was respectful, but hated to be stepped on. I wrote letters to the editor when I was annoyed. I let people know how I felt.

Then I was a teenager. I was full of opinions and was quite sure they were all right. I was willing to debate for hours, or sometimes stay really really quiet – stewing in my personal assurance that I was right and they weren’t.

I spent 4 years away at college. Even though I didn’t want to – lol. I will be forever grateful to my stepdad for his insistence that I drive, AND go away to college. I am not sure I would have done either. At college I learned to stand on my own two feet. I met all sorts of people from all walks of life.

By the time I hit my 20s life had educated me some. I still held strong convictions, but I was able to accept that it was ok for others to have their own. I gained the belief that as long as people were respectful – we could disagree.

In my 20s I met my husband. A match that many thought was destined to fail. And unlikely pair we compliment each other in every way. He was my missing piece.

In my 20s I became a teacher. A lifelong goal realized. I worked harder than I ever had in my life to be the best I could be. I recognized the magic of teaching. I became addicted to the “spark” in their eye when they “get it.” I came to see that my presence and my attitude were as important as my lessons. I taught/teach my students, my children – to see the best in others, and to tolerate and embrace differences respectfully.

In my 20s Mom had cancer. And I learned what it was like to be scared. And I learned what really really matters in life. And she fought, and she won. I always appreciated my family, but I learned to appreciate them even more.

In my 20s I got married. I got my Master’s Degree. We bought a house. We tore it apart. We fixed it up again. We got buried in debt. We worked hard to get out.

Then – just about when I was ready to turn 30 – we had Meghan.

Mom said you do more changing in your 20s than in your teens. She was right. But as my 30s come to a close – I think they beat my 20s hands down.

In my 30s I learned to love my heart, outside of my body. I learned that I would never be as important as that little human we created out of love. I learned about family all over again.

In my 30s I learned to live without sleep. I learned to endure tears and screeching and pain as my heart ached for my baby girl. I learned that colic can last way longer than 3 months, and I learned to bounce and rock and sing and move for hours and hours on end.

In my 30s I learned how to balance two full time jobs, as a mother and a teacher.

In my 30s I learned what it was like to be truly terrified, as your baby went into the hospital, and into surgery over and over again.

In my 30s I became really close with God. I learned that my relationship with Him transcends walls and buildings and people. I learned gratitude, and I learned not to be shy about my faith.

In my 30s I learned that convictions can change. And the things I was sure I was right about 5 or 10 or 15 years ago…well, maybe I wasn’t so right after all.

In my 30s I learned that close friends share bonds that go past time and distance. I learned that even though I miss them, they are there when the going gets tough. I learned that EMail, facebook, and the internet, when used properly – are some of the biggest blessings in life.

In my 30s I learned that you have the power to make changes in your life when situations, circumstances or people have you angry, sad, hurt, mad, or generally annoyed. I learned doing something is way more rewarding that complaining.

In my 30s I learned if you believe in something enough, if you believe in someone enough, well even if you stand alone, you have to stand up for them. And I learned that if you do – they will be your friend forever and ever.

In my 30s I learned what it was like to hear the words “You have a Rare Disease.” I learned words like “Cowden’s Syndrome.” I learned about “tumor suppressor genes,” and “genetic mutations.” I learned about risks and tests that could take worry to a whole new level- if I let it.

In my 30s I learned what it was like to hear the words “You HAD cancer.”

In my 30s I learned which body parts are “extra.”

In my 30s I learned – because they made me- what it was like to tell your 9 year old, “The doctors are pretty sure you will have cancer.”

From mousy to mouthy.

From school teacher to Mom.

From “victim” to advocate.

All these things make me who I am today.

So much has changed, and yet at my core, my heart – I am the same.

I feel. Deeply and truly. I care. Often too much. I laugh, and I love with my whole heart. I know pain, and I know joy, and I have been intimate with both. I know fear and bravery. I know that I am not always right – but when I am… watch out. Because little will stand in my way.

I know life is not fair.

I know God is Good.

This weekend I went to 2 wakes. One for a woman who had lived a full life, and another for a young girl who sparsely got the chance. There are too many wakes. There are too many things that don’t make any sense. Too many people gone way too soon.

I can wail and cry and wither away in my sadness. I can let fear win – or I can stand strong.

Cowden’s Syndrome tries to win. It can strike fear in my core with a headache, or the sighting of a lump, or the feel of a bump. But I will not let it paralyze us. I will not let it win.

So we have our team of doctors. We have our visits scheduled. We check it all. Sometimes its tiresome. Sometimes its discouraging. But I would rather be out in front of the boulder – than under it.

This is really how I view the race against Cowden's Syndrome — This is really how I view the race against Cowden’s Syndrome

Through it all I know Meghan is watching. My student – learning from how I react, how I fight, how I handle adversity. My teacher – teaching me bravery, courage, candor, tenacity, and stamina.

I do the best I can to show her that its important to stand up for what you believe in.

I think she gets it. I know I do.

The 30s have been a ride, and I still have a few more months to go.

In my 30s I learned what it was like to total a car. I learned the frustration and injustice that often goes along with accidents that they would like to tell me I am powerless to fix. I also learned that even though there are in fact some things I can not fix – there are others I can and will speak up about.

If you happen to catch this before 10 PM – try channel 11 news “Help Me Howard.” Working with the neighborhood to change a few things at my car accident site.

https://beatingcowdens.com/2013/06/04/howard-works-to-put-a-stop-sign-in-a-deadly-staten-island-intersection/

Advocacy. Empowering. Invigorating. Much more fun than lying in wait.

We have to keep our energy up, standing up for what we belive in while we are “Beating Cowden’s!”

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!

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!

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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.

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!

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!

Cowden’s Syndrome – You’re NOT the boss of US!

Published on March 3, 2013March 3, 2013 by beatingcowdens1 Comment

“You’re not the boss of me!”

Sometimes little kids can be misguided. Sometimes, Mom, Dad, or teacher is in fact the BOSS of them. But that statement from the mouth of a child is the beginning of their move towards independent thought. And, if nurtured properly can lead to a productive, independent, determined adult.

That’s what we are getting at here.

You see I spend enough time around children, that their words and phrases sometimes stick with me. And this one is stuck with me this weekend. So I reflect how it applies to my 9 and a half year old daughter and my 39 and a half year old self.

See, even though Meghan is very good at realizing I am often the BOSS of her, she will not be easily ruled. And while I love her independence, I love more the fact that she remains respectful towards her father and I – and dare I say, all the adults she deals with. She, as an only child has lots of bosses, but I encourage her to rise up against the tyrant that is Cowden’s Syndrome – and she does.

If Cowden’s Syndrome were her boss, she would sit idly by while the pain persisted; in the knees, the ankle, the shoulder, the wrist or whatever joint it currently is attempting a choke hold on.

But, since its not – she goes to dance class on Monday, Swim practice on Tuesday, Music and Movement on Thursday, and Swim Meets on the weekend. She often cries in pain in the hours following these events. But never once does she talk of stopping.

You see, Cowden’s Syndrome is not the boss of her.

Cowden’s Syndrome would have her hide in a corner, ashamed of an “orphan” disease that no one can really understand. But hiding is not for my girl. Instead she asks for a denim ribbon necklace. She learns about the Global Genes Project, she understands “Rare Disease Day,” and she actively participates in the “Wear that you Care” campaign. She makes thousands of denim ribbons, and informational fliers. She gives 2 speeches at her school. She even wrote a book about it. HA! Don’t tell her no one really knows about Cowden’s Syndrome – because she will take it as a challenge, and fix it.

https://www.facebook.com/photo.php?v=10200149863021946 (To see Meghan’s speech)

Cowden’s Syndrome – with its biopsies and cancer risks would like to leave us terrified. Instead, we are empowered. Meghan got the anesthesia she needed and deserved, to have her last thyroid biopsy with dignity. The terror is gone. We will have anesthesia next time too. And, if the cancer hits – we are ready. We are empowered.

Cowden’s Syndrome – You’re NOT the boss of us.

You certainly don’t rule me. 85% risk of breast cancer – yeah, so? Endometrial cancer? Nope – don’t need that either. Thyroid cancer – half gone already, and checked every 6 months. Melanoma – nope. And annual skin exams just to be sure. Colonoscopy – did that. Clean enough to wait until 2015. My spleen – well. That’s still in limbo. But you know what? Whatever. I have stared down worse.

Just came back from my girl’s first swim meet. Time to relish in the satisfaction that something normal happened here today. We will handle the pain, with the smile of knowing – she’s pretty fast.