Cowden syndrome – Page 27

Overwhelmed

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

Yep. Totally and completely overwhelmed.

I know I am not the only one. But I think sometimes the first step is admitting it.

Maybe it was overzealous to try to synchronize mine and Meghan’s 6 month follow-up appointments to coincide with the first 2 weeks in July and the February break.

My initial attempt scheduled 12 doctors , plus one MRI and one sonogram between June 27th and July 16th, (for both of us combined.)

It has mushroomed to include a Pituitary Stimulation Test and another ultrasound, 2 more MRIs yet to be scheduled, a possible muscle biopsy – pending a conversation between 2 specialists, a full day of work for me one day next week, Physical therapy 1-2x a week as we can fit it, 3 nights a week of swim practice, and 2 dentist appointments (that I PRAY don’t need follow-up!)

So, I waffle in between resenting the loss of my summer, and being grateful that I have July to get all this done.

The entire month of June I salivated for July. I couldn’t wait for schedule free days. Now I am frantically overtaxing my shredder as I organize all the tasks I label for “summer,” during the year. The July calendar makes me nauseous. Literally.

I mean we might have gotten bored eventually, but we have barely been near the pool. I say bring on the boredom.

Most of our appointments are in Manhattan. That can be a 45 minute trip or a 2.5 hour trip – depending on… well, the humidity? day of the week? air pressure? There is ABSOLUTELY no predicting.

We could take the bus. But that often involves the need for the subway, which I won’t do with Meghan, and lots of walking, which honestly she can’t do. So, we drive, fill the car with gas, head over a bridge and through a tunnel to a carefully pre-selected parking garage.

And, since there is no predicting, there is always a meal to pack. Never want to be caught off guard with a hungry Gluten, Dairy, Soy allergic kid.

Sometimes we are on time. Sometimes we are late. Always we wait, and wait.

Meghan is the most well-behaved child. I don’t lie because there is no need. I am sure she was a gift to me – while we can at times butt heads, her personality allows her to pack a book, her iPad, or something, and sit. For hours and hours. I couldn’t pull this off if she was any other way.

But, I don’t know if I would have a choice. There is no traveling to Manhattan at 4 pm, on a school night. It just can’t be for either of us. So we do what we must.

Today, before 8AM she was in the park, running the “fun run” of a local race that has been dedicated to our “Angel Meghan” for over 20 years. She ran for a quarter-mile – 2 and a half minutes, came in a close 2nd, and has been nursing her knees ever since.

I am in the basement, shredding, and writing while I wait for my overworked shredder to cool. Trying to get a few things off the “to do” list.

My head is constantly going – processing new information learned this week. Thinking. Asking. Wondering. Worrying.

Today is a good day. Daddy is home. The ultimate distraction for her.

We had a long talk this morning, me and my girl. I tried to push her to reach out to some friends. To go and be carefree like she should be. Even if its only for a while. Everyone has something we reminded each other.

I still can’t shake my need for order. I don’t need a psychiatrist to tell me my obsession with a clean house is tied to the inability to control much else in my life.

Cowden’s Syndrome – our curse, and our blessing. Sucking away hours that should be spent on the beach or in camp. Forcing a little love to grow up way too fast. Torn between my guilt that this mutation came from me, and my gratitude that she saved my life.

I lost my driver’s license today. Just the license. It fell out of my pocket. For $17.50 I ordered a new one on-line. Here’s to hoping that whoever tries to be me has a strong stomach, and a decent amount of stamina. They don’t know what they are up against.

The beach… and all her other plans – I will do my best.

Just trying to get by one day at a time.

This one is a favorite of a dear internet friend :-) — This one is a favorite of a dear internet friend 🙂

The thought for the day... — The thought for the day…

My Young Teacher

Published on June 15, 2013June 15, 2013 by beatingcowdens2 Comments

As I was getting ready to say goodnight to Meghan a few days ago, she was visibly upset.

During our conversation I learned that she felt the cleaner I had just given her for her face had made the small bumps she has (courtesy of Cowden’s Syndrome) more noticeable than before.

I didn’t see it.

I look and I see my beautiful daughter – radiant inside and out.

Cowden’s affects the skin, and sometimes we get these obnoxious small bumps in all places you would never want them. Dermatologists with little experience with the syndrome don’t recognize that each one is in fact a tiny benign tumor, in the hair follicle, causing inflammation.

She is almost 10. She is 5 feet tall. She has fantastic hair and a great attitude about life. But, like any girl in this society she gets self conscious about her appearance at times.

So, in my effort to reassure her that her “bumps” were most noticeable to her, I showed her my legs.

Both legs are riddled with bulging, pulsating, colorful varicose veins. I have had 7 surgeries to keep them under control and eliminate the pain that goes along with them. I have over the last 2 years lost about 35 pounds. They just don’t let up.

I told her how self conscious I am about my legs. I told her how hard it is to wear a bathing suit, or shorts. I told her that I have only bought my first shorts in over 10 years in the last 2.

I know now what I didn’t know then – that these relentless varicose veins are likely a credit to my Cowden’s Syndrome, and the same path that led Meghan to that pesky AVM in her knee – a generation earlier presents as these veins in me.

She looked at me, pointing out my own insecurities, and she said Mom, you have to understand – it looks worse to you. And you have to remember, “Some people only wish they had legs… or legs that work.”

And there it was. My girl again.

“Sometimes your blessings come through raindrops, sometimes your healing comes through tears…” – Laura Story

We took the iPad. We looked at pictures of veins. We looked at pictures of acne. We looked in the mirror. We hugged.

Sometimes its so hard. One battle after another on this journey.

I don’t know that I could handle anything so gracefully without my young teacher.

JUNE!

Published on June 10, 2013June 10, 2013 by beatingcowdensLeave a comment

It’s June. It doesn’t feel like it. At least the weather doesn’t. It’s cool and rainy. I guess that’s OK for now – while we are still wrapping up school.

It has been a long week.

I don’t usually leave my blog unattended for so long. I am behind at writing. I am behind even further at my reading. It seems the days just blend together lately.

It is June, and when you are a school teacher, this is a month of eager anticipation, and volumes of paperwork to be settled. There are boxes to back and things to carefully put away in preparation for the fall. There isn’t much time to be still.

Well – in another 2 weeks it is!

It’s June, and when you are an advocate – you do take a few minutes to celebrate the victory that put speed bumps on the street where you had the accident that damaged your back forever and ever. You are grateful for the citizens, and politicians alike that fought relentlessly. You are thrilled by speed bumps, but you still want that stop sign. You celebrate with a glass of wine – or two.

It’s June though, which means that damaged back has to ache longer in between trips to the chiropractor, and the PT you promised yourself seems like it may never happen. You are the mother. You will get by.

It’s June and when you are a Mom of a kid with Cowden’s Syndrome you spend 2 or three afternoons a week at physical therapy to make her chronic pain bearable. Not totally sure the pain is related to the Cowden’s, but sure it’s related to SOMETHING, you scoff at the denial for school based PT and wonder what they would say if one of them could spend a morning in your house watching your 9 year old walk like she’s 90. You balance those PT appointments with swimming lessons, all in preparation for the team she will join. The team she is desperate to swim on successfully, and God willing – pain free.

It’s June, so you balance the breakthrough of the virus on that adorable immune compromised 9 year old’s face with increased doses of the antiviral medicine and extra trips to the pediatrician. It’s June so when it’s not pouring – you make sure she has a hat to keep the sun off her face. And when you look at the dose of antiviral medicine you start to feel a bit guilty, nervous maybe, about her liver – and all the prescription medicine. So, you take a chance and toss the Celebrex to the side. Hoping maybe, just maybe she can get by without it.

It’s June and its raining. You feel a little guilty about “forgetting” to tell her you stopped the Celebrex, but each day you hear the complaint of another joint, another ache, another pain. Ten days later you abandon your hopes of relieving the stress on that young liver, and you relent. Too many Tylenol – not cutting it. Celebrex it is.

The war rages – all the months. The battles are won and lost on a regular basis – but the war looms large. I don my armor – a large binder of medical facts, bloodwork, and reports. I gather my inner strength.

It’s June. Summer vacation is coming, but there will be no camp in our house. It doesn’t fit in with the schedule.

Every six months. Every doctor. Forever. Mine, and hers. Different doctors. Different times. Different facilities.

I am getting better at the scheduling. I have learned to bunch them together. So, we go in February and again in July.

For Meghan it’s the thyroid first. That foreboding nemesis. Ultrasound, appointment… and we will see what comes next. Then its the AVM follow up, and the genetecist. That’s just the last week in June.

Mom has an MRI to schedule to look at that spleen, some more surgical follow ups…

There will be 15 appointments before the 2nd week in July. That’s if every one goes well.

This is how it has to be. We have to work, she has school. We can’t have the appointments all throughout the year, so we must endure them all at once.

It’s June. I am already tired. Wrapping up one full time job to focus on another. I feel my anxiety rising.

Getting all my rest. Gathering my inner strength. Armed and ready. Kicking Cowden’s to the curb…

We can… WE WILL!

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!”

The Grass is Green!

Published on May 29, 2013May 29, 2013 by beatingcowdens5 Comments

Sounds ridiculously cheesy I know. Sometimes the bad things are just crap. And some days just stink. But, not most of them. Really, if I think about it- just a few days now and then really stink. The rest of them seem to hold within them some lesson, some joy, some laugh, some memory – something that makes my spirit richer than it was before.

Don’t ever delude yourself into thinking things are perfect here. That would be a lie. We have our whiny, cranky, in each other’s way kind of days. But that’s not most of them.

Lots of rotten things happen to everyone. But lots of good things happen too.

Lots of rotten things happen when you have Cowden’s Syndrome. Sometimes the key lies in looking at things from a different perspective.

Every moment. Every meeting. Every diagnosis. Every doctor’s appointment. Every report read. Every bill fought for. Every new teacher. Every new friend. Every old friendship renewed. Every miracle. Every ordinary moment. They all bring us to where we are.

Maybe I have watched too much sci-fi with my husband, but to change any one thing, any event in our lives, could alter the course of our lives.

I won’t spend time wishing things away- certainly not the good, and definitely not the bad.

Sometimes the lessons hurt. Sometimes they make us cry. Sometimes, like when we say goodbye to dancing school, and all its emotional joy, coupled with insufferable physical pain, we get a little sad.

Then we say, if it wasn’t for dance, we wouldn’t have learned love of the stage. If it weren’t for dance we wouldn’t have seen a growth in confidence, and an ability to manage a growing young body. Losing dance is hard…

But if there wasn’t Cowden’s, and chronic pain, and an inability to deal with impact – would there be swimming?

Private lessons at a local college start Saturday. Regular practice begins the next month. She salivates when she gets near a pool. She just wants to get better and better.

New sport, new school, new friends, and old ones too. Same old pain. Same nasty viruses. Some things change, and some remain the same.

Sometimes I wish (quietly to myself) that life could be a little bit easier. Then I look at my daughter, and my husband, and my dogs, and my house, and I think – things are just fine right here.

We have each other – for the ups and downs- for the ins and outs.

They say if everyone had a few moments with everyone else’s problems, they would fight to grab their own back.

We are getting by. We are “beating cowden’s”

The grass is green enough right here.

Saturday Adventures

Published on May 25, 2013May 25, 2013 by beatingcowdens1 Comment

I have this delusion in my head of what a Saturday should be. I think sometimes about getting up – not at the crack of dawn, but at a reasonable hour. Getting a quick breakfast and jumping in the car to head… well wherever we want to go. I think about spending Saturday as a family. Worry free. Relaxing together. Sharing an adventure.

Then there is reality. It has a way of biting you in the behind when you aren’t paying attention. (Or when you are practicing active ignoring.)

Reality is that we have two working parents in this house. That same reality that allows us to pay for the medical bills that creep up, and the fun stuff like vacations, is the same reality that means Saturday afternoon adventures are uncommon. Well, almost unheard of anyway.

I have a grocery shopping routine – down almost to a science. About every 3 weeks on Friday night, I go on the marathon. I stop at Costco, and run home with what we need. Then I head to Wegmans in Woodbridge, and Whole Foods in Millburn. The whole journey is about 40 or so miles, and it takes about 6 hours from door to door. Then there is the unpacking…

Why?

Well food sensitivities have kept Meghan gluten, dairy, and soy free since she was about a year old. She is also very sensitive to dyes, preservatives, nitrites, food coloring, and the like. Her diet is pretty much pure and organic.

Local shopping is not as plentiful as that over the bridge, and prices are flat out better there. So, last night as we undid the (ridiculous amount of money) worth of groceries, and I put a soup in the crock pot for today, I was about to fall over from fatigue.

The piles of laundry already covered the basement floor. The beds would need to be stripped in the morning. The bathroom was in dire need of a cleaning after my husband repaired a pipe that burst under the bathroom sink. I thought about shutting down the alarm and just letting my body do the talking this morning. I thought about it for about 3 minutes.

Then I took a flashlight into Meghan’s room. I covered her eyes and looked at the sores on the right cheek of her sleeping face. My heart sank. I turned the alarm on. I knew where we had to be in the morning.

In addition to having Cowden’s Syndrome, Meghan suffers with an immune deficiency. Well, technically speaking probably more than one. She is IgG subclass 1 deficient. Her body doesn’t seem to remember how to fight infections. She is also Mannose Binding Lectin deficient – a whole other element of the immune system – just absent.

Usually she holds her own. She takes a HOST of vitamin and mineral supplements. She eats that pure and largely organic diet I spoke about, and aside from seemingly chronic fatigue, she does OK most of the time. She can’t be running around too long or too often. She can not be over stressed. These things wear her out, and then we have trouble.

When she was just 6 months old she was first hospitalized with an infection of Herpes Simplex 1 (fever blister) on her right cheek. It was odd the location it started. It was in the middle of her face. Before we knew what it was it had become cellultis, and we spent a week in the hospital. The first 2 days were the scariest as the blister kept increasing in size. Eventually my pediatrician at the time called in an infectious disease specialist (my pediatrician now,) who swiftly diagnosed the herpes simplex, and began IV acyclovir. Within 24 hours things calmed down. A week after we were admitted, we got to go home.

However she never, despite a few miserably failed attempts, got off the acyclovir.

She spent another week in the hospital at about 20 months, treating an aggressive outbreak.

At one point we slowly weaned her to 500 mg a day only to have her develop a very painful trigeminal neuralgia which the oral surgeon wisely explained was caused by the herpes virus taking up residence in the trigeminal nerve in her face.

We promptly went back up to full dose, only to watch the pain fade away in a few days.

We have seen minor outbreaks through the years – usually nothing more than a red mark to indicate its time to do something. We have slowly watched her dose of acyclovir be increased. Currently at 80 pounds she was taking 1400mg a day.

We worry about the liver. About whether there are long term effects. But there really is not a choice.

That’s why as I shined the light on her face last night I knew this morning would involve a trip to the pediatrician.

We arrived bright and early and as he greeted us warmly he sized up her face in one brief glance.

“I see our old friend is trying to make an appearance. Raise the acyclovir to 1600mg. Move to 3 times a day to help it get through the system better. Take a picture every morning, and call me if it doesn’t improve. I will see you in 2 weeks.”

We stopped at CVS. We texted a friend’s mom for a play date. Then we got home at about 11:30 – drained.

Felix was working to bleach the bathroom – a job my asthma doesn’t allow.

There were human beds and dog beds to wash. There were floors to clean, and dishes to do. There was spaghetti sauce and some gluten free cookies to make.

As I heard the sound of giggling girls from behind Meghan’s closed bedroom door – I took solace in the fact that at least she had an adventure today. Even if it was in the house.

Cowden’s Syndrome and the immune system don’t seem linked on paper. But, anecdotally I hear of issues from every Cowden’s patient I correspond with. What goes on in our bodies to make it just so hard to put a virus to rest?

One child. One diagnosed genetic disorder on the tumor suppressor gene. A mannose binding lectin (a protein) that is also missing. An IgG subclass deficiency. Metabolic errors still being unearthed.

And I was looking for an adventure?

I should be happy and content with the Saturday cleaning. It is the most rest we seem to get!

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)

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.

Collateral Damage

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

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

beatingcowdens

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

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

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

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

It can be an all-consuming job.

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

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

There is…

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