PTEN – Page 21 – beatingcowdens

Meghan Speaks Out!

Published on February 25, 2013 by beatingcowdens8 Comments

Maybe tonight I would have to call Meghan the “Guest Blogger.”

What you read below is her speech. She was asked to prepare something to read for her school for “Rare Disease Day” on Thursday. She is an excellent public speaker, and fights only a few “butterflies” before she speaks. She always makes me so proud. I wish I could be there!

The text of the speech was written by her. I typed it, and then she went back in and changed it again. I added the pictures… just for here – because I like to!

She will review the speech with her principal tomorrow, but I don’t expect many changes.

When did my baby grow up?

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

Some of you, who know me, know me as Meghan Ortega. Or, maybe you know me as Meghan from 4^th grade, or Meghan from Mrs. Worsdale’s and Mrs. LaMonaca’s class.

You might, if you know me a little better, know me as Meghan who loves to read, and swim. You might know me as Meghan who loves dogs.

Maybe you know that I have 2 dogs that I love, and a mom who is a teacher and a dad who is an electrician.

Lucky, Meghan and Allie - My three girls — Lucky, Meghan and Allie – My three girls

But, until today, very few of you knew that I am Meghan Ortega and I suffer with a Rare Disease called Cowden’s Syndrome.

Until September of 2011 I didn’t know I had this Rare Disease. What I did know was that something was wrong and my body was far from that of a “normal” kid.

For as long as I can remember, every week of my life has included AT LEAST one doctor’s appointment, and lots of times even more.

You’ve all been to the doctor and you know it’s not fun. It involves waiting and waiting…and even more waiting. It also involves poking and prodding. For me, it often means being sent to more and more and more doctors…

My mom says when I was a baby I wasn’t really comfortable, and I cried all the time. I almost never slept, and wouldn’t drink my bottle.

When we talk about it now, we think my body knew I couldn’t handle dairy products, and dairy is in milk.

Mom also tells me that I started seeing lots of doctors when I was just a few weeks old. Soon there were doctors to check almost every part of my body.

I have had 9 surgeries. I remember having my gall bladder out before I turned 4. I also had a lipoma (a soft tissue tumor that people with Cowden’s Syndrome get.)

I had knee surgery 4 times for an AVM in my right knee. An AVM is a vascular malformation. It is also common in Cowden’s Syndrome. It feels very strange because it pulses like your heart beat. Every time I had that surgery the doctor thought I wouldn’t need another one. But they have already done 4, and they are not sure if the AVM will ever go away, so I will probably need more.

Because I am in pain so much, I get physical therapy in and out of school. My outside physical therapist, Dr. Jill told Mom that she should take me to see a geneticist. I didn’t really understand what that was, but we went because that is just what I do.

Dr.Pappas at NYU was really nice. He examined me and he talked to me and mom. When he was done he drew some blood. He said he was pretty sure of what I had, but we had to wait for the test results.

In September of 2011, just as I was starting 3^rd grade, we went back to his office and he told us that I have Cowden’s Syndrome. It means that my PTEN gene is broken. Your body is made up of all sorts of genes, but these are G-E-N-E-S, not J-E-A-N-S like the ones you wear. PTEN is the gene that keeps your body from growing tumors. Because mine is broken I get more growths, like the AVM, the lipoma, and the nodules on my thyroid that I have to have checked every 6 months.

As soon as I was diagnosed, the doctor talked to my mom and said she probably had Cowden’s too. He took her blood and a few weeks later she tested positive.

Because of the Cowden’s my mom had lots of tests done, and it explained a lot of things about the 17 surgeries she has had. On March 5^th it will be a year since she had surgery for breast cancer. She is just fine. She says that knowing she had Cowden’s helped her find it early. She says to everyone that my diagnosis saved her life.

When I am here at school I smile a lot. I don’t like to dwell on anything bad. We spend enough time with doctors so I try to enjoy my time with kids.

You would probably never know by looking at me, that I am in pain a lot. I take medicine every day that helps my joints hurt less than they used to, but still most days I have pain. It is hard for me to climb up the stairs, and play at recess, but I do it.

We first heard about “World Rare Disease Day” last year, but at the time we were a little too stunned to do anything about it.

This year I told my mom I wanted to do something to make people more aware of Cowden’s Syndrome and all rare diseases. I was not ready yet to do a fund raiser – I just wanted to get the word out that Rare Diseases like ours exist. There are over 7,000 of them!

I shared my idea with Mrs. Manfredi and she said I could give out the ribbons and information you received today. I was really excited.

“Hope it’s in our genes” is the motto of the Global Genes Project. They try to raise awareness and find cures for all rare diseases.

Today I think it’s important for you to know you can’t ever really judge someone by how they look on the outside. You never know what’s going on inside of them.

Be kind.

Be aware.

Rare Diseases are everywhere.

Thank you

** By Meghan – Age 9!

Priceless!

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

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

Filling the car with gas- $50.

Traveling through the Brooklyn Battery Tunnel $13 roundtrip.

Parking for 4 hours – $25.

Two doctor Copays $20 each.

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

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

ABSOLUTELY PRICELESS!

So we cross small hurdles gleefully.

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

I will do everything in my power to consolidate them.

Cowden’s Syndrome WILL NOT run our lives.

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

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

Anxiety- an after effect, or a symptom?

Published on February 16, 2013February 16, 2013 by beatingcowdens8 Comments

An interesting “conversation” in one of my online groups this week, regarding increased levels of anxiety and depression conected to PTEN mutations.

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

One of those conversations that make you wonder if it is better to be validated or to fight the idea that this perpetual anxious feeling is actually hardwired into your genes.

I looked up the articles too. I love to read for myself. The experiments are done on mice. I suppose there aren’t enough of us to get a controlled group for a good study, (although there is a drug called rapamycin being studied on humans – but that’s for a different day.) But, among other symptoms the mice in their mazes did show marked increase in anxiety. Although. I have to imagine if I was a mouse in a maze I might get nervous too…

Now I have a lot of throughts on this.

I have always been a worrier – highly anxious about most things. Anyone who knows me knows that to be true.

But, conversely – throughout large portions of my life there has definitely been something to worry about.

So, as the chicken/egg thing goes -do I worry because anxiety is a part of Cowden’s syndrome, and even before my diagnosis I have had Cowden’s? Or do I have acute bouts of anxiety because having Cowden’s gives me so much to be anxious about?

The best answer probably is – both.

I am a rational person by all rights. Even in the middle of my worst anxiety I can stop and think and KNOW that my fears are irrational. I can have the absolute belief that God will continue to care for the situation, and for my loved ones, yet still it is often like a crushing weight on my chest, making it hard t0 think, breathe or move.

What I have on my side is that I was raised to keep on keeping on. Thanks Mom, and Grandma and Pop especially… when the going got tough, we were taught to keep going. So while I comfort myself with verses about tomorrow having enough worries of its own, and while I am faced with horrendous tragedies of things that cannot be controlled, I am able to press on.

So I can function, and the anxiety does not cripple me. And, I know the “nature vs. nurture” reasons to explan it.

But I do know that my daughter suffers too. Not just with a PTEN mutation, and Cowden’s Syndrome, but also with anxiety. She is a worrier, “just like her mother” they say. Yep. Maybe she is like me because of genetics, or my example. I can’t really know for sure.

So what to do?

For me, the first step is just acceptance.

I am a worrier.

Regardless of the cause, and allthe logical justifications I can give myself – I will remain a worrier.

Then, find an outlet. I am still working on this one. I am thinking I like to write – so maybe that will help some. I would like to get a few minutes to myself now and again. I used to love to walk. Maybe one day there will be time for some nice long walks.

I meditate a bit on the bright side. Be grateful for the “good” that comes with a chronic illness like Cowden’s Syndrome. I am not referring to the pain, and the surgeries, and the cancers looming, but rather to the “warning” system built in. Parents would do anything to protect thier children. How blessed am I that even among the strain of ceaseless appointments and hours waiting at offices and for results, we have a warning system. I am confident that if we are vigilant, the Cowden’s won’t “get us.”

Stay organized. Don’t let the bills, the list of phone calls, the shredding, or the sorting to pile up. It will just keep coming.

Stay ahead of the school projects. You never can tell where tomorrow is going to land us.

Laugh. Often. It is deeply good not only for the anxiety, but also for the soul.

Recognize you have lots to smile about.

Acknowledge the pain of others and “Pay it Forward” when you can. I find that NOT dwelling on our lives here, helps make me less anxious.

Did the Cowden’s cause the anxiety? Is it hard wired into who I am as a person? Is Meghan destined to be forever wondering and worrying? Or, did a life of doctor’s appointments, pain, chronic disease, and general worry, create the anxiety?

It really doen’t matter because it is here. It is part of me, and to la large extent – us. I doubt it is going anywhere. I think its just my job to control the beast the best way I can, one day at a time.

It was NOT the Cowden’s… this time!

Published on February 6, 2013February 6, 2013 by beatingcowdens1 Comment

Insert HUGE sigh of relief here.

We saw the retina specialist. He was a young guy. He took a medical history. He had never heard of Cowden’s Syndrome so he took 15 minutes to read and familiarize himself with it so we could have an intelligent conversation BEFORE the exam. (This is where all my fellow Cowden’s sufferers stop in amazement… yes – imagine that!)

He understood my concerns, especially the vascular ones since the eye doctor saw “something” on the picture of the eye.

Even with her having said, “It’s Probably Nothing, but…,” he still took almost 1 hour start to finish on the exam.

He looked in her eye. He photographed the eye. He tested her eye pressure, and her vision with and without glasses. He systematically eliminated cause for concern, until he was able to say – yes, her vision declined – but I don’t see any ominous reason why that happened.

There is NO evidence of vascular lesion. There is NOTHING to indicate that Cowden’s Syndrome played any part in this one. Instead, it’s a bit of “cat and mouse.” This time we are chasing a different set of genetics.

Unfortunately for Meghan, her father’s family doesn’t carry good eyesight. Seems she got the PTEN mutation from me, and the rotten eyesight from them. Share, Share.., I am not happy about the poor eyesight, but it is a lot more straightforward and less messy than anything Cowden’s related.

Genetics.

Rare diseases.

Over suffered, and under researched. All of them.

Spoke to a Mom, a volunteer at the Global Genes Project.

She was lovely.

She also has twin 9-year-old girls with a rare disease, whose chances of long-term survival are bleak.

The kind of conversation you end wow-ing the other person’s strength, and being thankful for drawing the rare disease card you did.

And this week I am being reminded that your kid doesn’t need a rare disease to end up in dire straights. Young children are snatched from their parents far too soon. In ways that just don’t make sense.

So we pray. A lot.

We can’t fix everything. As a matter of fact we can’t fix most things. So we hope. And we help. The best way we can.

We will make lots more ribbons. People need to know about these disorders. All of them. And once they know, they will help.

We contacted the paper in hoped they will run a story. Every day feels like a story unto itself.

This time it wasn’t the Cowden’s. Thank God.

But there will be a next time. The worry will never cease.

Hold your children tightly. To a large extent we are lucky. We seem to know the beast we are fighting.

Tell them you love them. All the time.

We are going to Disney again. Money well spent.

Don’t look too closely at the backyard, and the deck. Just come spend some time with us. It passes too fast.

And WAY too much of it is spent at doctors, without much reprieve.

Tomorrow we head back to the dentist about those gums…

Rare Disease Day

Published on January 31, 2013January 31, 2013 by beatingcowdens4 Comments

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.”

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.

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 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.

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.

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!

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

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

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

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

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

Preventative mastectomies under fire

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

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

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

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

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

This article says

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

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

Really?

and WHY?

Why not ask us?

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

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

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

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

So the article says:

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

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

Emotionally charged? You bet.

Come by.

We’ll have some coffee.

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

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

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

Reblogged, and worth the read

Published on January 26, 2013January 26, 2013 by beatingcowdens1 Comment

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

Published on January 24, 2013 by beatingcowdens5 Comments

And 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.

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.

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)

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.

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

Published on January 21, 2013 by beatingcowdens5 Comments

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.

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.

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…

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.

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.

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!

My Little Ambassador

Published on January 17, 2013January 17, 2013 by beatingcowdens15 Comments

Meghan is really into raising awareness of Cowden’s Syndrome and other Rare and Genetic Diseases. She is extremely excited about “World Rare Disease Day” on February 28th.

We are in the process of making MANY denim ribbons that look like this. She plans to ask her principal tomorrow if she can give one to every staff member and student in the school. She wants to do this purely to raise awareness. Her ideas for fundraisers are developing separately.

She has also researched statistics on Rare Diseases, and came up with this sheet to attach to the ribbons.

February 28^th is World Rare Disease Day

My name is Meghan… and I have a Rare Disease called Cowden’s Syndrome. It is a genetic disease that affects only about 1 in 200,000 people. (That is only about 1,500 in the whole USA!) One of my genes called PTEN is broken. It causes tumors and vascular growths in my body. I have lots of surgeries. My Mom has Cowden’s too. We are luckier than a lot of other people with rare diseases.

I learned some information about other rare and genetic diseases;

1. There are about 7,000 types of rare diseases.

2. Some of the rare diseases affect less than 100 people.

3. 50% of all rare diseases affect children, and are responsible for 35% of the deaths in the first year of life.

4. 1 in 10 Americans are living with a rare disease.

5 About 350 million people in the world are affected by rare diseases.

6. If all the people with rare diseases lived in one country, it would have the 3^rd biggest population in the world.

7. 80% of rare diseases are genetic. They can present at any time in a person’s life. My mom was much older than me when she was diagnosed. I was diagnosed first!

8. There are no cures for any rare disease, and only 5% of them have any treatment.

9. Over 50% of all rare diseases have no foundations, support groups, or anyone looking for a cure.

10. Cowden’s Syndrome isn’t fun, but when it comes to rare diseases, we are some of the lucky ones.

We support, and get our information from www.globalgenes.org. Their slogan is “Hope it’s in our Genes.”

That “play on words” is why we wear denim, and denim ribbons today.

In addition, because maybe there was a chance I couldn’t get any more proud, she received a book assignment from school. She had to write a story where the main characters were two dogs named “Casey and Bella.” She decided to write about what meant something to her.

I have no idea who will win, but you know who gets my vote.

Everywhere she goes, she seems to take an opportunity to tell someone about Cowden’s Syndrome. She says people need to know. She uses our necklaces to start all sorts of conversations.

She dreams that one day they will be as common as the “pink ribbon,” or the “puzzle piece.”

I think she is just the girl to make it happen.

Someone in one of my online groups asked if we knew anyone famous with Cowden’s Syndrome.

Does… I know someone trying to make Cowden’s Syndrome famous count?

I love my little girl!