Rare Disease Day

So tonight, as I turned the calendar to February, Meghan actually whooped with excitement.

When I asked her why, she told me that she was going to “Celebrate Rare Disease Day” this month.

I smiled in spite of myself.  This kid can get excited about anything, and to imagine that 2 years ago we never even knew there was a “Rare Disease Day.”

Rare disease logo 2013

This year she intends to celebrate with her usual charm and zest.

Our kitchen table is a ribbon making center.  We are gluing denim ribbons at an alarming rate.  She created a half sheet to attach to each ribbon, describing our connection.

Rare_Disease_Day_Ribbon hand made

Then, she bravely approached her school principal to get permission to distribute 950 ribbons to the staff and students at her school.  She will ask them all to wear jeans on February 28th.  And that day, she will not feel alone.

She is getting to know some of the other rare diseases, listed here.

http://www.rarediseases.org/rare-disease-information/rare-diseases

She knows ours is pretty rare, but the list is alarming.  Almost 7,000 diseases fit the criteria for “Rare Disease.”

http://curiosity.discovery.com/question/criteria-to-determine-rare-disease

So tonight, after we left the dentist, with the encouraging news that she doesn’t think we need an oral surgeon.  We were in a pretty good mood.  Meghan and I looked in the mirror at the “cobblestone gums” (a hallmark of our Cowden’s Syndrome) that we share.  Mouth issues are just another battle to be fought in the war.

rare-disease-day-feature

Rare Disease Day gives her a focus.

The pain has been horrendous this week.  The legs, the knee, the groin, the arms.  Probably the weather – everyone says.  Little solace to my 9 year old.  The Celebrex seems to be quitting.  Supplemented each morning by a dose of tylenol, she gets through the day.

But she lights up again when the talk returns to “Rare Disease Day.”  She has hopes that maybe her young friend in Australia, or in Ohio – both with Cowden’s, might be able to Skype into her school.

She and I have matching shirts from with the Global Genes logo.

hope t shirt

She wants to give these ribbons to anyone who will take them.  She wants the world to know, and to understand.  Even if it is only for a day.

She wants her pain, her doctor’s appointments, her worry, her biopsies, her surgeries… to matter.

She knows they do.  To the people who love her.  She knows there is a virtual army following her in prayer every step of the way.  She knows they are praying for the “retinologist”  visit, and for her eyesight, as well as for her health.

She knows that some of them she knows, and some she will never meet.  She appreciates every single one.

And this is the month.  She will have “her” day.  She will include everyone.  She will not feel like 1 in 200,000.  She will not be lonely.

Rare_Disease_Day_Logo_2011-1024x968 2

She hurt tonight.  We rubbed her legs, and kissed her before bed.  We have no idea if it will ever be alright   So we don’t lie anymore.  We do what we can, when we can.

I will contact the local papers, and see if I can get someone to pick up a story on a little girl who wants to change the world.

I will eagerly await a phone call from the Global Genes Project.

You will hear a lot about this during the month.  Bear with us.  We are not passive people.  We work through doing!

Two of a kind
Two of a kind

“It’s probably nothing, but…”

don't worry

We are two for two this week.

Monday the orthodontist referred us back to the dentist.  The OVERGROWTH on Meghan’s gum may warrant an evaluation, and possible oral surgery.  But first – to the dentist Thursday.

Tonight, an annual eye doctor exam.  Admittedly we are 3 months late.  There was the hurricane, and then Grandma fell, and then the car accident, and then… it was January 29th.

I knew her eyes were worse.  She told me she couldn’t see the charts in the room.  Her teachers asked when she would have another eye evaluation.

She had gone since kindergarten without a new prescription.

The onset of headaches, correlated with the decline in vision over the last three months makes me uptight.

eye chart

She read 20/50 and 20/70 WITH her glasses on.  I almost threw up.

Cowden’s syndrome and its tumor growth, and general overgrowth potential. can lead to the wildest imagination.

But, my husband’s sisters, Meghan’s paternal aunts, have terrible eyes.  So maybe…

Then they took the picture of her eyes, and compared them to the visit of October 2011.

“Well, maybe my machine is just darker today,” says the doctor.  “But there is some shading on the right eye I think you should have looked at.  It’s probably nothing, but…”

Famous words.  They usually lead to a Cowden’s Syndrome mess.

Not much literature on the retina and Cowden’s, but then again, there aren’t too many of us – relatively speaking.

Who am I to guess.  I am closing in on 40 and just now considering my first pair of reading glasses – right on time.

I keep saying that I will call at work. Then I spend the day doing my best to put out out small fires.

explosion

And all of a sudden its time to go.  Off to another appointment.

Tomorrow I will call the “retinologist.”  Who knew?  Thursday we will see the dentist.

Two glasses of wine tonight, and I feel like I have been beat.  What a day.  Early to bed – no doubt.

“It’s probably nothing, but….”

Just in case I should rest up.

IMG_0423

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

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

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

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

Preventative mastectomies under fire

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

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

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

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

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

This article says

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

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

Really?

and WHY?

Why not ask us?

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

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

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

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

So the article says:

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

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

Emotionally charged?  You bet.

Come by.

We’ll have some coffee.

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

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

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

Reblogged, and worth the read

Sometimes you read a story that just needs to be retold.

This link will take you to the world of a young lady I “met” through my blog and have come to respect.

She does not share my same genetic mutation, hers is the BRA-CA gene, and mine is PTEN. But the breast cancer risks are ridiculous for both, and she bravely as a young twenty something, underwent a prophylactic bilateral mastectomy.

In a rare request, she is asking for help, and I certainly feel compelled to share her reasonable request.

It is through social media that I have come to find others “like us,” to share mine and Meghan‘s story of our Cowden’s Syndrome battle. Without that outlet, I would feel incredibly lonely.

Please take a moment to read Rachel’s story, and another to respond to her request.

This world of genetic predisposition is terrifying, and should not be traveled alone.

Lori

Ticking Time Bombs

My mom is a member of the Los Angeles Pink Dragons, a dragon boat racing team of breast cancer survivors. She has been paddling with the Pinks for about a year now. Last night, one of her teammates passed away after a long battle with breast cancer. Frances was my mom’s benchmate on the boat. On the Pink Dragons’ Facebook page, Mom writes: “Frances, your courage and determination was an inspiration to all of us. Your teammates will miss you so. Rest in peace, dear friend.

Then scrolling down through my Facebook newsfeed, I was accosted by another heartwrenching message, this one from Bright Pink founder Lindsay Avner: “My heart breaks upon learning of the loss of Rebecca, a member of the Bright Pink Vermont family, who lost her battle to breast cancer at only 29 years old.”

29 years old.

Frances and Rebecca’s deaths are…

View original post 555 more words

Anxiety and the Morning Rush Hour

energy to be normalAnd that is how the day began.

Anxiety in full swing before 7 AM.  Never a good sign.  Especially when the panic attack is coming from your 9 year old.

See, I have a problem with this.  And maybe it is where some of my anger comes from.  I don’t have a problem with Meghan.  I am not upset with her, or her anxiety.  I am really just PISSED OFF at the cause of her ceaseless worry.  It is against the balance of nature that a nine year old should have to have this much to be concerned about.  It is absolutely unnatural that I have to soothe her fears while desperately making sure my words don’t form any type of lie.  She is too smart.  And her memory is way too good.

Sometimes, on mornings like this one.  I have precious little to say.  So, I hold her, as my stomach lands somewhere around my ankles, and I have a tremendous desire to (as an online support group friend suggests) lay on the floor and throw a massive fit.

It's not fair - Tink

And while she is crying about the huge overgrowth that on her gums where she lost her last tooth.  I am trying to convince her that maybe, if we brush like the orthodontist said, it will go away.  (“LIAR”  I hear my inner voice scream..)

Once, a few months ago, soon after the braces were on and the gums were flaring in the full on overgrowth of Cowden’s Syndrome, the kind orthodontist made a general statement in the room where Meghan and I were.  He said he was not familiar with Cowden’s, but (thankfully) he believed Meghan to be carefully caring for her teeth.  However, if the overgrowth continued she would need to see an oral surgeon to have her gums cut back.

Yep.  He is a nice man.  But, he obviously doesn’t know my daughter doesn’t miss a beat.  She was all over that comment for weeks on end.  We already had her gums cut once in 2008 for an odd thing that grew over her front tooth.  She may not have a solid memory of the day… but she remembers enough to know she never EVER wants to do that again.

So, what is a Mom to say, at 7:15 AM when the anxiety is impossible to manage?  I need to soothe her AND get her in the car (as the NYC School Bus Strike continues) in the next 15 minutes.

keep swimming

At least she laughed.  It’s nice to have a smart kid.  One who can respect that there just isn’t anything else for me to say.  Some days we have to push on.  Even when we are worried and scared.  Even when we don’t want to.  Even when it’s not fair.

Doesn’t change the fact that she is scared, and I am mad, and the permanence of this whole Cowden’s Syndrome thing really just stinks.

So she got to school and I kissed her and wished her luck on her math test, and she took her aches and pains, and her heavy heart, and her big brave smile, and headed off into school.

They are nice to her there.  Really they are.  But I cried on the way to my school, just a few minutes away.  I am in a rut. I have to get past this anger… for both of our sakes.  But lately I just feel mad.

Of course that’s not who you see when you meet us.  You don’t see worried, and mad.  You see our smiles.  See we get life. Both of us do.  On different levels of course, but we get it.  We know there are so many people who suffer.  We know how blessed we are.  Our prayer list is endless.  But some days we just “keep swimming…” and…(we)

refuse to sink
I got the message at about 12:45.  Meghan’s school nurse had called.  I called her back to hear the familiar voice that I have come to trust tell me that Meghan “didn’t look right.”  She was complaining of lights in her eyes.  She was “off.”  After 5 years in that school, I have received limited phone calls.  When they call – I answer.  So, with permission I headed out early.

I got my girl home.  We sat in the dark room.  I rubbed her eyes.  She had a bit to eat.  Eventually she tarted to perk up…the anxiety had gotten the best of her.  All the makings of a migrane at 9.  DAMN this syndrome.  Leave her ALONE!

And as we wrapped up for the day.  Much calmer than when we had started, there was happy chatter of girl things, and talk of sleep overs and normalcy.  With a kiss and a smile she headed to bed.  God, I love that little girl.

I got in the car to check in on my grandparents.  The phone was off the hook.  This is an ongoing event, and one we share lots of laughs about.  I arrived to find them in their recliners, watching TV.  The phone was in Pop‘s pocket – on.

I asked about their night and Pop told me the story of how he “pulled over a mat and snaked the toilet, a little bit at a time.”

“How old are you?” I asked.

He winked and smiled, and told me he forgot.

I guess it didn’t matter because everything was working just fine.  But some days I feel like I might as well be 93 and he, 39.

As I drove home I thought about genetics, and environment and all those biology classes I hated in high school.  I may not have inherited their PTEN gene, but I grew, and learned, and was taught in their environment.  I grew up in a climate of a “can do” attitude.  We did… because that is what needed to be done.

Still, at 92 and 93 my grandparents do what needs to be done.

I decided while I did not gain all their good genes, I gained their drive and determination.  Their faith,stamina, and hopefully some of their wisdom.

I will get out of this rut.  Cowden’s Syndrome will not own us.  It will not win.  We can do it, and we will.

WE CAN!
WE can.. and we WILL.  SO there! 

“I hope you never lose your sense of wonder…”

Meghan left tonight for the Father Daughter Dance with her Dad.  I am always so grateful for him, but especially on nights like tonight when he can show her the time of her life.  She needs that time – to be happy and carefree.  She needs time to just be a kid.

Father Daughter Dance November 2009
Father Daughter Dance November 2009

I looked back on some old photos from dances in years past.  I know it sounds cliche, but I can not believe where the time has gone.  It stung especially I think this weekend, as my girl lost her last baby tooth, and came to the realization that Santa, and the tooth fairy, and all that magical mystery of childhood isn’t “real” in the way she had thought.

Father Daughter Dance November 2010
Father Daughter Dance November 2010

I think she took it better than me.

I cried a lot this weekend.

I think I am angry too if I am honest.  I think I am not just sad, but angry.

And that’s ok.  I have to let myself feel even the ugly emotions when they are in there.

I am angry about Cowden’s Syndrome.   I am angry about the cloud it carries, even on the sunny days.  We always seem to need to pack an umbrella in some game of anticipation – not designed to be won, just played.  Forever.

I have said before, and I will say again – if it was just me…

Father Daughter Dance November 201
Father Daughter Dance November 2011

But it’s not.  It’s her too.  That is reality, and it really does torture me sometimes.

All parents feel pangs of sadness as their children grow.  And, Meghan being my one and only, I am sure the pangs sting extra hard.  But, there is more than that.  We deal with something most parents don’t.

As her age increases the looming cancer threats that Cowden’s carries with it increase as well.  At her age, the biggest threat is thyroid cancer, and we are battling the beast head on.  We have dealt with, and continue to fight with the AVM in her knee, and we have gotten past the lipoma in her back.  All  thanks to Cowden’s Syndrome.

But, as she grows and matures, so does her body, and with it her wisdom.

She looks quizzically at my silicone breasts and her own developing ones.  She wonders.  Sometimes to herself.  Sometimes aloud.  When will it be my turn?

She asks if she will be able to have children, or if she will need to have her uterus out first.  She asks that if she does have children… do they have to have a PTEN mutation?  Do they have to have Cowden’s Syndrome?

Too many questions to flood the mind of my 4 foot 11 9 year old.  Too many questions for the string bean with the developing body.  Too many worries for my baby girl.

I am angry.  But thankfully she is not.  She takes each day as it comes.  She accepts the eventuality that one day the biopsy will not be negative.

Father Daughter Dance January 2013
Father Daughter Dance January 2013

I sheltered her for a long time, but they made me lay it on the line this year.  So we had the “cancer” talk in the waiting room of Memorial Sloan Kettering last month.  I told her there was no guarantee she would get cancer.  So she spun the question and asked me how many people with Cowden’s I interact with have NOT had cancer.  The number is small.

So we talked about the benefit we have that others don’t.  We talked about how constant screening means we will beat whatever beast tried to get at us.  We will be vigilant.

dance in the rain

We will win.

I get angry sometimes.  She just finds other ways to make me smile.  She keeps my heart soft.  She is my rock.  Wise beyond her years, and still a kid at heart.

I hope you and Daddy dance your hearts out tonight!

Are you Santa?

I can not take credit for the content of this letter.  I found it on the internet, but it met my needs, as the questions started coming fast and furious.  How can Santa…?  How big is the tooth fairy…?  All ways for her to let me know she “knew” and was ready for me to tell her.  I on the other hand was not ready at all.

January, 2013

Dear Meghan,

You asked a very good question: “Are you and Dad Santa?”

I know you’ve wanted the answer to this question for a long time, and I’ve had to give it careful thought to know just what to say.

The answer is no. We are not Santa. There is no one Santa.

I am the person who fills your stockings with presents, though. I also choose and wrap the presents under the tree, the same way my mom did for me, and the same way her mom did for her. (And yes, Daddy helps, too.)

I imagine you will someday do this for your children, and I know you will love seeing them run down the stairs on Christmas morning. You will love seeing them sit under the tree, their small faces lit with Christmas lights.

This won’t make you Santa, though.

Santa is bigger than any person, and his work has gone on longer than any of us have lived. What he does is simple, but it is powerful. He teaches children how to have belief in something they can’t see or touch.

It’s a big job, and it’s an important one. Throughout your life, you will need this capacity to believe: in yourself, in your friends, in your talents and in your family. You’ll also need to believe in things you can’t measure or even hold in your hand. Here, I am talking about love, that great power that will light your life from the inside out, even during its darkest, coldest moments.

Santa is a teacher, and I have been his student, and now you know the secret of how he gets down all those chimneys on Christmas Eve: he has help from all the people whose hearts he’s filled with joy.

With full hearts, people like Daddy and me take our turns helping Santa do a job that would otherwise be impossible.

So, no. I am not Santa. Santa is love and magic and hope and happiness. I’m on his team, and now you are, too.

I love you and I always will.

Mommy

I cried for at least an hour.  She handled it with her normal grace and poise.

I hope she never loses her sense of wonder.  Sometimes I wonder how broad the shoulders of a 9 year old should have to be.  I know they all have to find out some time, but life is tough enough, escpecially when chronic illness fills your days.  They should stay young as long as possible.

 She already has plans to fill my stocking next year.  She said I shouldn’t have to do my own – lol.  ❤

And… Just in case I was worried – she said, “Don’t worry Mom, Disney is still the happiest place on earth!”