Meghan’s Rare Disease Day Video and Speech 2016

Published on February 21, 2016 by beatingcowdens3 Comments

This is the text of the speech Meghan delivered at this year’s “Jean’s for Rare Genes 2” Fundraiser. Regardless of the monetary totals, which will come in the next days to weeks, I can assure you it was a success.

I want to start by thanking you for attending this fundraiser here today. This is the second “Jeans for Rare Genes, a tradition I hope continues to grow each year.

I knew nothing at all about Rare Diseases until the fall of 2011. I was in 3^rd grade. I went to a geneticist because I was having all sorts of medical trouble. He diagnosed me with Cowden’s Syndrome. A few weeks later he diagnosed my mom with the same thing.

Cowden’s Syndrome is a mutation (a break or a mistake) on the PTEN gene which is a gene that is supposed to keep the body from making tumors. Basically, when you have Cowden’s Syndrome, which is pretty rare (only 1 in 200,000 people) your body makes tumors. Sometimes they are benign, and sometimes they are cancer. It also causes my body to make vascular malformations, like the one in my right knee, that has caused me 6 surgeries all by itself. That is why with Cowden’s Syndrome we have to be watched all the time. There are so many doctors, so many things that need to be checked, and scanned and looked at, it can be really overwhelming.

You can’t catch Cowden’s Syndrome, it has to be inherited, like I got it from my Mom. You also can’t get rid of it. Once you have it, the only thing you can do is get checked, a lot.

I have had 16 surgeries so far, and I only turned 12 in August. That doesn’t even count for the doctor’s appointments, Emergency Room visits, scans, and never-ending blood tests.

When I first learned I had Cowden’s Syndrome, I went to a website called the Global Genes Project to learn of facts about rare diseases. I learned all sorts of interesting, and sometimes upsetting facts.

There are approximately7,000 different types of rare diseases and disorders, with more being discovered each day
30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the S. population
80% of rare diseases are genetic in origin
Approximately 50% of the people affected by rare diseases are children
30% of children with rare disease will not live to see their 5th birthday
95% of rare diseases have not one single FDA approved drug treatment
Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease

I started out feeling like I didn’t fit in anywhere. I couldn’t understand why all these diseases existed and no one seemed to know or care. I found the “Global Genes Project” motto, “Hope it’s in our Genes” to be a comforting play on words. I identified myself with the denim ribbon, a powerful symbol of Rare Genetic Disorders. My Mom’s friend made me a denim ribbon necklace, and I felt like I had an identity piece, something that represented me.

At first I organized an assembly at my school, and in 4^th grade we gave out denim ribbons to raise awareness. In 5^th grade we had a fundraiser. We sold some T-shirts, and had a small event at the school. The money went to the Global Genes Project.

Last year, a charity was created called the PTEN Foundation. It is the first charity that looks to help people with our specific disease. They want to create a patient database, so people with our Syndrome can be studied and learned about. Then, maybe there will be a way to help us.

As happy as I was about the PTEN Foundation, by this time, I had learned about a lot of other Rare Diseases, and kids, who didn’t have a chance to live and do as much as I can. I promised myself I would always remember those kids when I did any fundraisers.

Last February, “Jeans for Rare Genes” happened at the Hilton Garden Inn. I wasn’t sure I could pull off anything that big, but with a vote of confidence from Borough President Oddo, and my Mom supporting my vision, it happened. 150 people showed up, and we raised over $12,000. True to my word, half of the money went to the Global Genes Project, and the other half went to the PTEN Foundation.

This year, I invited Bob Jackson, my favorite entertainer from Walt Disney World, to come and play piano at “Jeans for Rare Genes 2.” He is here with us today and I am so excited! We also have “Charlie Balloons,” back to help us again, and lots of great raffles from generous donors. This year, I think and hope we can raise a lot of money to send to the PTEN Foundation and the Global Genes Project.

One of the hardest parts of having a Rare Disease is one I don’t like to talk about too much. Middle school is tough enough, but when you spend more time at the doctor than at social gatherings, it gets tougher to fit in. I am glad that with Cowden’s Syndrome I don’t “look” sick, except it makes it even harder for people to understand why my life is so different.

I’ve gained an appreciation for the reality that “everyone has something,” and I work hard at not judging others, because everyone is fighting their own battle. I want to make more people aware that this is the case, and that is why raising awareness for Rare Diseases is so important to me.

The pressure of life, the surgeries, the hospitals, the worrying, the waiting, and the wondering, has done a lot to make me who I am. I don’t wish for anyone else to really understand this pressure, but I sometimes wish more people would understand me.

I have met a handful of people along the way, some in the most unlikely places. These people have provided me support through the pressure, and I am forever grateful.

I know I still have a lot of time to grow into the person I am supposed to be. I love swimming, and drama and singing. I do well in school, and I love being with my friends. I love helping others. I will continue to search out my “Corner of the Sky.”

As you watch the video I have prepared for you, you will see that despite the pressure of life, I will not ever be defined by my disease. I am determined to focus on a brighter future, and to channel my energy into making a real difference in this world.

I look forward to seeing what the future hold, and how the next chapter in my life turns out. I hope to see you at our event next year!

When you’re through reading take the time to appreciate her video, created by herself!

Local Newspaper Coverage

Published on January 20, 2016January 20, 2016 by beatingcowdensLeave a comment

This is already all over for my local friends, but for anyone else who is interested, this article was written for our local newspaper. It will publish in print Monday, but is in the online paper today. Click the link below.

http://blog.silive.com/gracelyns_chronicles/2016/01/post_23.html#incart_river_mobile_home

Relax, Nothing is Under (My) Control

Published on January 3, 2016January 4, 2016 by beatingcowdens1 Comment

Today I dropped my daughter’s iPad. Down a flight of stairs. With no case. I’ve never seen quite so many pieces on a screen. But, it still turns on. And somehow we all managed to remain calm. My husband set the appointment at Apple for Weds. night. Yes, we have “Apple Protect.” Yes, I know there may be a deductible. And, while I called myself several names, I was most impressed that all three of us remained very calm.

Maybe we are learning.

NOTHING is under control really, except how you handle the things that are out of control.

Yesterday I had the dog to the vet. In a little under a year since we rescued her, she has ballooned from 42 pounds to 65. I guess she feels content in my house. We must be doing something right. There was this rash on her belly. And $300 later, with a shot of antibiotics, some antihistamines, and this cone on her head – it’ll be ok.

Except in the middle of the night. Then she needs her Mom to love her cause she can’t get comfortable. But, hey, really sleep is overrated.

On Thursday we went to see the ENT. He checks Meghan periodically since the hospitalization 18 months ago to gauge how her reflux is affecting her throat. It was a bit redder than usual this time. So, we juggled a few medicines and left with directions to find a GI. Easier said than done. Our last one was fantastic, but she took a break from practicing, and our local options are less than fantastic. So we will seek, and hopefully find…

On Wednesday we had the 2 week follow-up from the biopsy. We left with a script for progesterone which is apparently our only option. It’s necessary to slow the growth of those precancerous cells, and hopefully get them to go away. Verified with the head PTEN researcher in Cleveland, through my local geneticist. I hate hormones. Hopefully she tolerates it. Hopefully the cells behave themselves. Three month follow-up, then we schedule the next biopsy. She needs another biopsy so we can have a “clean” one. That’ll be in June. Something to look forward to.

On Wednesday after the doctor, Meghan and I took the train from downtown to Times Square to see Daddy at work. This is truly one of the highlights of her year and there was no way we were missing it!

Favorite Family Picture! Wearing our "NEVER GIVE UP!" thegsf.org — Favorite Family Picture!
Wearing our “NEVER GIVE UP!” thegsf.org

On Tuesday we stayed home. She missed play practice. She was recovering.

Monday had started out full of energy – with a huge nail in my new tire. Thankfully the car has warning lights to tell me when the pressure is low, and thankfully I got up early, because soon after I got home from getting it fixed, she woke up. In pain. We ended up spending Monday in the Emergency room at NYU. All told about 8 hours, a CT scan, a chest X-ray and blood tests, they found an elevated WBC, and free-floating abdominal fluid. The doctor said it’s likely a cyst burst. She was vomiting so badly that morning I never knew WHAT had hit her. Just something hard. The fluid, in my very sensitive to her body, girl, was likely causing the severe pain – just being there.

Maybe it was triggered by Sunday’s Swim Practice at the Long Course (50M) pool on Long Island. Maybe not. We’ll never know.

Christmas seems like only a blur. Mom had it this year, a kind respite for me. Some time spent with the family. Some time to just be together. It was perfect. And I am so grateful.

The week has been wild, and I guess that’s why I’ve been quiet. But, I am proud to say we have laughed despite the chaos. I can’t think of a day this week I haven’t laughed so hard I cried.

NOTHING is under control. At least not under MY control. And I am going to TRY really hard to be more OK with that.

The schedule for 2016 will not lighten up even a bit. I have an ultrasound Saturday, Meghan has an MRI on the 14th and the knee doctor on the 25th. It will not slow down. I must stay organized, and healthy, and focused. I must continue to eat well and exercise.

Most importantly I must laugh. Often. With my family. With my friends. The adventures will continue. But

Happy New Year to all!

It’s Complicated…

Published on December 22, 2015December 22, 2015 by beatingcowdens2 Comments

I just ended a 30 minute conversation with Meghan’s adolescent gynecologist. The fact that she spends 30 minutes on the phone with me speaks to a rare spark of passion for her field, and a genuine desire to help. These are things we clutch because they are uncommon, and, when they come at all, they are fleeting.

The long and the short of the pathology, which arrived earlier than planned, was that there was no malignant finding. Yes, you read that right. No malignant finding. (Insert Happy Dance here…)

And the gratitude for the prayers and positive energy was lifted up. We truly are always aware of the potential alternatives, regardless of our situation.

But, as is always the case with Meghan, I encourage you to keep reading. Nothing is ever really simple. And, as the years go by it seems to get progressively more complicated.

While in fact there was no malignant finding, there was not a purely benign pathology either. She had “the best type of hyperplasia you’d want to find.”

Except when pressed, the gynecologist admitted that there is no type of hyperplasia that you’d ever want to find in a 12-year-old, and that there should be nothing but normal cells there.

Hmmm. Hyperplasia. Medicine.net says…. “Hyperplasia: An increase in the number of normal cells in a tissue or an organ. Hyperplasia can represent a precancerous condition.” And various other sites say the same. The doctor agreed. The pathology finding was not “normal,” and therefore it must be treated.

See, hyperplasia, specifically endometrial hyperplasia might be detected in women 3-4 times her age. It might even be expected in women 5 or 6 times her age. But, her age is 12. And none of this is ok.

I pushed her about thinking outside the box, and she reminded me that the entire biopsy WAS thinking outside the box. Any other teen would have been treated for months or more on hormones. That could have had epic consequences.

In the short-haul, she gets to heal from an invasive procedure. In the next week more hormones will be introduced to her body in an attempt to keep the hyperplasia at bay, and most importantly to keep it from progressing. But, hormones, although commonly used to regulate bleeding, require special care in the case of a young lady with no thyroid, a difficult time balancing the endocrine hormones, an extremely elevated risk of uterine and breast cancer, thanks to the PTEN mutation, AND TWO first degree relatives, with estrogen fed breast cancer.

For now, she keeps her uterus. And we hold our breath. We hope that over the next few months things will start to calm down. And some time in the next 6 months the invasive biopsy will be repeated over again to make sure the hyperplasia is gone or behaving itself.

To Meghan this mimics the process that took place at the beginning of the end of thyroid removal. We had about 3 years of progressive biopsies before they decided to pull the plug and take it out. She knows, and agrees, that we will all fight longer and harder for her uterus. For so many reasons. But the similarities can’t be overlooked. Nor can the distressing notion that another body part is misbehaving.

When we were diagnosed in 2011 we were told there would be screenings and monitoring. We even figured on a few doctors every 6 months. At one point we dreamed of getting them all into a week in August and a week in February and living a somewhat normal life the rest of the year.

Instead, in Meghan’s life alone there have been 5 surgical procedures in the last 13 months. Digest that for a minute, because it’s hard to keep track of.

Currently we are monitoring her thyroid levels through blood every 6-8 weeks, visits twice a year, and annual ultrasound to monitor potential regrowth.

We are monitoring her knee where the AVM resides, through twice a year visits to the interventional radiologist and twice a year visits to the orthopedist. There is an annual MRI. And two of those procedures in the last 13 months have been for the knee. Add in surgical follow-up visits, and Physical Therapy.

The dermatologist needs to see her twice a year. Not because anything has been found on her, but because in addition to me passing the PTEN gene to her, apparently her father and I BOTH have Dysplastic Nevus, a “precancerous” condition where moles have a tendency to become malignant. Couple that with the almost 10 % melanoma risk Cowden’s patients carry, and in addition to the sunscreen, there are necessary scannings.

There is the gastroenterologist, who became necessary almost two years ago when the use of Celebrex to control the knee AVM started to rot out the GI tract.

And the ENT who was added so he could monitor the larynx to avoid unnecessary endoscopy but gauge improvement from the scary state she was in in May of 2014.

Oh, and the doctor who prescribes the digestive enzymes because they work, and no one else will.

And the pediatrician who doesn’t like to go more than 3 weeks without examining Meghan, who also keeps her on Acyclovir, prophylactically for chronic HSV that recurs on her face.

And, don’t forget the hand surgeon, who we love, (who doesn’t have a hand surgeon on the team?) who has twice in 3 years removed vascular lesions, one from each palm. And those surgical follow ups.

Nothing is neat and clean. Nothing is contained. Nothing ever fit into those 2 weeks we once dreamed about. This disease has projectile vomited all over our lives. And it’s everywhere. And it’s messy and gross, and we just want to take a hot shower and move on.

Because we haven’t even discussed fitting in MY appointments…

And a full-time job….

And an honor student….

Who is a swimmer….

And a theater buff….

And a community activist in the making…

All after work, and school, into the city, in traffic, and expensive parking lots, in hopes of getting back local in time for practice.

Last week I told Meghan over the Christmas Vacation we would need to see her gyn, and do her knee MRI, and my abdominal sonogram. She was less than impressed. The general sentiment is that we don’t get vacations, we get days off from school to go to the doctor. I can’t argue.

The physical, mental, and social ramifications of this under-funded, “orphan disease” are having a profound effect on the life of my girl, and her mom and dad too.

That is one of the main reasons we work so hard to raise funds and awareness. Maybe one day…

So tonight, we are grateful. We are on our knees in gratitude, for the prayers that were lifted on her behalf. We are thrilled to hear the words, “It’s not malignant,” but we are painfully aware the journey of monitoring another body part has just begun.

So if we are not shouting from the rooftops, please don’t think us ungrateful. We are not. We are relieved. We took our first deep breath in weeks. But, we did ask Santa for some new body armor, polished and ready for the new challenges PTEN Hamartoma Tumor Syndrome, (Cowden’s Syndrome) are actively placing in our way.

We ask that you continue your prayers, and continue to educate yourself about genetic cancers, orphan diseases and people like us, left to be our own advocates, in a world that isn’t overly concerned with how our story shakes out.

While we are in transit, to and from a lot of places we’d rather not be, we talk a lot. Most of it is complicated. But some of it, is quite simply about how a 12-year-old with a vision is going to change the world.

Come join us on FEBRUARY 21st as we try to draw attention to Rare and Genetic Diseases! Beating Cowden’s Fundraiser LINK – PLEASE HELP US SPREAD THE WORD!

Time with "BOB" our favorite entertainer... — Time with “BOB” our favorite entertainer…

Dear Stress, Let’s Break Up…

Published on November 25, 2015November 25, 2015 by beatingcowdens3 Comments

Because truly I’m getting bored of you. I’d like try to spend some time with Serenity, or Sanity, or Relaxation, or maybe Peace.

I know I’m bad at ending relationships. I get attached even to things that are just wrong for me.

I make excuses. I have a hard time letting go.

And you, well you are relentless. You keep finding ways to get in my face.

Yesterday you played nasty. I had a simple appointment. Do I need the implant replaced or not? And somehow it turned into an insurance nightmare and a need to consult with a new plastic surgeon. The surgery will be. But at least it’s not urgent. Sheesh! I needed to fit in a consult with a NEW doctor? You know how much I LOVE new doctors right? AND EXTRA trips to the city. My complete favorite.

And as I tried to reach Meghan’s doctor to get things scheduled I hit so many roadblocks it was like you were just taunting me with your tongue out. I get it. Long weekend. Except it’s TOO long if you’re waiting on things like this. I cried. I admit it. You got to me.

But you know what Stress? You’re taking up too much energy. And once again my kid set me straight. She swam one heck of a practice tonight. She will swim her December meet. I owe it to HER to work around her passions. We even chuckled, knowing the reality of what she COULD be facing, and the super importance of her swimming, and singing, and acting. No matter if the doctor understands. God help me no matter if it delays things a few days. (Breathe in breathe out…) cause we have to prioritize.

Stress you don’t like focus. You like chaos. You like drama. You like mayhem. I doubt you’re gone for good. But we are so over you.

Excuse me while Peace, Serenity and I dig out the Christmas tree.

I will release you with my mind. I will release you with my energy. I will release you using ADAPTOGENS. I’m really not interested in you…

We’re too busy- BEATINGCOWDENS!

(Breaking the) Code of Silence

Published on November 22, 2015 by beatingcowdens4 Comments

The song by Billy Joel…

“Code Of Silence”

Everybody’s got a million questions
Everybody wants to know the score
What you went through
It’s something you
Should be over now

Everybody wants to hear the secrets
That you never told a soul before
And it’s not that strange
Because it wouldn’t change
what happened anyhow…

…And you can’t talk about it
Because you’re following a code of silence
You’re never gonna to lose the anger
You just deal with it a different way

And you can’t talk about it
And isn’t that a kind of madness
To be living by a code of silence
When you’ve really got a lot to say…

And as happens sometimes when there is a lot on my mind and I’m left alone with my thoughts, music creeps in. Today Felix and Meghan are on a youth retreat with our church youth group. They are spending the weekend. I cleaned a bunch, switched to the winter drapes and started to transtition into holiday mode. It’s been a few tough Decembers. After losing my Dad in December of 2013 and then in the fall of 2014 saying goodbye to Grandma Gen, Uncle Jerry, and our beloved Allie dog, I was intent on getting some time to get my heart and soul peaceful for Christmas. But, despite my best efforts and lots of early shopping complete, my heart is heavy with worry once again.

I know people will say you can’t worry and have faith. If that’s true then my faith needs some work. But, I think its my faith that keeps a leash on worry and keeps it far away from depsair. And for that I am grateful, although things are getting a little tricky here again.

I began this blog years ago with no expectation of personal privacy. I have been gratified by contacts made all over the globe, and have enjoyed having the ability to nudge people towards support or just read that our story gives them hope. But, then I began to write about my daughter. And we had tons of conversations about digital footprints, and things we can’t take back. She has been like a champion, willing to share her story through me in the name of education, advocacy and awareness. She wants a place where people can read about REAL people REALLY dealing with Cowden’s Syndrome every day.

Yet, in her day to day life Meghan is a bit reserved. She is careful with her words, and trusts sparingly. She is constantly aware of the different lens through which she views life, in light of her medical experiences. She is acutely sensitive to the fact that even the children who care, are unsure how or what to do if she talks about her real life. PLUS, so much of what goes on is hard for us to process. There is just no way to expect a typical 7th grader to go there. Heck, I can’t get the adults I confide in to wrap their heads around any of this.

November was supposed to just be me. Traveling to the plastic surgeon to determine if my right implant ripped, and scheduling surgery if needed. I go there Tuesday.

But, November has already been very busy. We met earlier this month with a new doctor, an adolescent gynecologist at NYU. She listened to Meghan’s story. A story that began with what we hoped was just an erratic start to a teenage menstrual cycle. She reviewed the ultrasound from July with the “abnormal endometrial thickening,” and she asked some questions to my girl. Who at 12 is clearly adult size, just shy of 5 foot 7 and a very trim 115 pounds. My girl had her notebook and answers.

Then there were more questions. Because since the middle of August there have been less than 10 days with NO bleeding. So there were blood tests to check hormone levels. And there was a repeat sonogram scheduled.

There was also conversation with this very young, very attentive doctor. A doctor who made no bones about researching Cowden’s Syndrome and telling both of us that she found 2 cases in the literature of Cowden’s patients with uterine cancer – mean age 13.5. Ouch. She told Meghan that she had some investigating to do. And then we would know more. We already had this information stored so the minds race.

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

Cowden Syndrome

Approved by the Cancer.Net Editorial Board, 11/2014

What is Cowden syndrome?

Cowden syndrome (CS) is part of the PTEN hamartoma tumor syndrome. Hamartomas are benign, meaning noncancerous, tumor-like growths. Other clinical syndromes that are part of the PTEN hamartoma tumor syndrome are Bannayan-Riley-Ruvalcaba syndrome (BRR; diagnosed in children), Proteus syndrome, and Proteus-like syndrome. CS is characterized by a high risk of both benign and cancerous tumors of the breast, thyroid, endometrium (uterus), colorectal, kidney, and skin (melanoma).

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

The ride home involved some of the toughest questions I’ve ever had to answer.

And then the hormone levels came back utterly confusing. The doctor said they make no sense. It didn’t gel with the tickened lining and the bleeding. It didn’t gel with anything.

And the ultrasound Thursday at 4 pm was read by Friday. Warp speed for you experienced parents. The doctor called me at 7 Friday night. The conversation led us to the necessity of a biopsy. Too many things aren’t right. “There is no formula, no plan to proceed in a child this young. We just have to trust our instincts.” I like her. She cares. But again, I’ve been doing Cowden’s longer. I have to be alert.

Welome to my world doctor.

We’ve heard this song before. “Could be…” “Maybe…” “We’re concerned…” and it’s been fine every single time.

It’s just the weather is getting colder, and after school trips to Manhattan hold no appeal. Missing work, making it up, racing to the swim practices she loves. We’ve done this all before. Different reasons. But there seems to be very little real break in between. And the pace is hastening.

This week is Thanksgiving. We’ll put the tree up. We’ll work on some cards, and I’ll help Meghan organize a few more things for the Jeans for Rare Genes Fundraiser.

Monday I should hear about a date for the biopsy. Hopefully. Then there will be at least 5 days after that date for pathology.

And the “Code of Silence” permeates a few other non Cowden’s areas of life.

This young lady I have is strong. She is funny. She is tenacious. She is a swimmer. She is an actress. She loves to sing. She is NOT Cowden’s Syndrome. But IT is trying to play dirty with her again. And I just don’t like it one bit.

We remain BEATINGCOWDENS!

(This blog, like all other ones of a personal nature, was approved by Meghan.)

AND WHILE MEGHAN CONTINUES TO DESIRE THE REAL STORY BE TOLD, PLEASE FAMILY AND FRIENDS, RESPECT HER “CODE OF SILENCE.” SHE WILL TALK IF SHE WANTS TO.

IF YOU ARE ABLE, WE WOULD LOVE TO HAVE YOU JOIN US AT THE 2ND ANNUAL “JEANS FOR RARE GENES” FUNDRAISER. A BRIANCHILD OF MEGHAN ALL PROCEEDS BENEFIT THE PTEN FOUNDATION AND THE GLOBAL GENES PROJECT. JUST CLICK THE LINK BELOW.

https://www.eventbrite.com/e/jeans-for-rare-genes-2-tickets-19343557100?aff=eac2

The Story of the Girl and Her Mom

Published on October 18, 2015 by beatingcowdens5 Comments

So, four years ago they diagnosed this girl with a rare genetic disorder called “Cowden’s Syndrome.” Soon after they diagnosed her, they diagnosed her mom too.

And the mom and the girl read everything they could find, which really wasn’t very much.

And they asked a lot of questions. Some from the doctors, but mostly from people on the internet who had this Rare Disease too.

They learned a lot. They also learned there was a lot to learn.

They learned about cancer risks, and how very high they are.

They learned about screening tests.

They met lots of new doctors. Some were super awesome, and others were super awful.

They fired the awful ones, and kept the awesome ones.

The doctors sent them for tests, and screenings, and blood draws, and all sorts of poking and prodding.

At the beginning it was pretty much all they had time for.

The girl had lots of surgeries, and lost her thyroid, and then they called her a “previvor” because they said she got it out just in time before it was cancer.

The mom, she had a bunch of surgeries too. In one they found cancer. But she was called a “survivor” because it was all gone. (Thanks to the girl who got diagnosed first and saved her life.)

The girl and her mom ran from doctor to doctor. They sat in traffic for forever. They stayed in hospitals and had surgeries, and tests. Everyone treated them kind of strange. Like they were aliens or something. Their condition was so rare that hardly any doctors even understood what they were supposed to do.

Over time the girl and her mom got a better idea of what really mattered and what didn’t. They started to be more assertive about doctors, and schedules and planning. They started to say, “not right now,” sometimes, knowing that a few weeks wouldn’t matter, but a few months might.

The girl and her mom talked a lot about Cowden’s Syndrome. They talked a lot about Rare Diseases. Sometimes they were really angry. Sometimes they were sad, and other times they were grateful. They saw what some other people with Rare Diseases went through.

The girl and her mom had LOTS of long talks, real talks about tumors, and tests, and cancer, and life.

They worked on some things separately and some things together. But they agreed to get busy living.

That didn’t mean they could ignore the seemingly endless doctors appointments. They all had to be done. It meant they could schedule smarter. It meant they would talk about what symptoms had to be addressed right now and which ones could wait. It meant they had to get really good at communicating.

This isn’t always so easy since the girl is almost a teenager, but they are getting pretty good at it.

The girl had 4 surgeries this year, some more major than others, but she spent lots of time recovering. And she learned that she liked to be busy. She likes to sleep too, but she likes to be busy. With kids. Often. She also likes to be active. A lot.

The girl and her mom still have this Cowden’s Syndrome, and sometimes for reasons no one understands, they hurt a lot. Sometimes the pain makes it hard for one of them to push on. Sometimes the tired almost feels like they can’t go on.

But the girl and her mom, they push each other. They push each other to press on because laying down and giving up is not an option.

Their days are long. The mom works full-time. The girl goes to 7th grade and makes high honor roll.

Their afternoons are full of drama club, the girl’s love of theatre, and lots of swim practice. The days are often 13 hours or more of constant motion.

The girl and her mom, they decided that they might have a Rare Disease, but it definitely wasn’t going to “have” them.

So they decided that whatever comes their way, they are going to be active, healthy, strong, fueled with nutritious food, and built of muscle. This way if Cowden’s punches, they will punch back harder.

Sometimes the mom wonders if life would have been different without the girl. The mom wonders if alone she would have been able to push on.

But she doesn’t have to wonder. Because they have each other. And, because this weekend they spent 3 days at a swim meet. And the girl knocked major time off her events.

And, when they came home, the daddy, who is the glue that holds them together, had warm chicken, and rice and vegetables, the healthy fuel – all ready.

And the mom and the girl were so grateful. For each other. For the desire to fight. For the strength from good food, and faith, and the love of a dad who backs them up every step of the way.

And as the mom drove the girl to youth group at their church, they talked, about the swimming. And about the fundraiser they are planning. So that Rare Diseases scarier than theirs get some attention. “For the Babies,” and so that there can be research for this Cowden’s Syndrome. So that maybe it can get stopped in its tracks.

And as the mom walked home enjoying the fresh crisp air of Fall she was filled with gratitude.

For this story of BEATINGCOWDENS has only just begun. And each chapter holds more promise than the next…

Hyper-vigilance

Published on September 20, 2015 by beatingcowdensLeave a comment

Hyper-vigilance. Although Wikipedia is not my favorite source for all things – it defines this quite well.

Hyper-vigilance is an enhanced state of sensory sensitivity accompanied by an exaggerated intensity of behaviors whose purpose is to detect threats. Hyper-vigilance is also accompanied by a state of increased anxiety which can cause exhaustion.

When we were first diagnosed, and I had a long conversation with a Mom who had been where I was many years before, she told me we would be OK, but we would need to be forever vigilant. Understanding now, what I didn’t then, is that Cowden’s Syndrome requires more than vigilance, it necessitates hyper-vigilance.

The two are very different. One is a state you may be in sometimes, when it is necessary. The other is a place you never leave. Ever.

I don’t compare illnesses, in the sense of one being, “better, harder, easier, more difficult, more painful…” than another. That to me is silly. I know LOTS of people who suffer on a regular basis. I can’t say I would want to trade places with any of them. And, I can only speak from my lens.

My lens is that of a mother, who is watching her child battle through a chronic (FOREVER) illness with potentially life-threatening, and definitely life-altering ramifications – while battling that same illness myself.

I don’t view us as “sick” people. As a matter of fact we are regularly called,” The healthiest looking sick people…” But, we aren’t “well” either. It gets complicated. Quickly, and often.

Hyper-vigilance requires me to do everything I perceive is in my power to try to stave off the tumors and vascular anomalies looking to create havoc, chaos and confusion in our bodies.

Hyper-vigilance necessitates monitoring food intake. Avoiding food allergens/sensitivities because they cause vomiting and severe GI distress. That means NEVER leaving the house without food. JUST IN CASE. It also means spending weekends cooking so that “quick meals” come out of my freezer and not a drive through window. It means providing the most intense nutritional products I can find to fuel a body that would otherwise be running on empty. It means driving far and long to get the right food at the right stores. It means making sure the sweet treats that are allowed are not full of dyes and preservatives because they compromise further a documented severely compromised immune system.

Hyper-vigilance means watching the medication intake. To make sure we don’t forget an antiviral. Because when we do it sets off a tirade of events that are hard to bounce back from. It means typing the list, and checking it over. It means teaching her to know her medicine on sight. It means avoiding everything we don’t need and willingly taking things like probiotics to help that fragile stomach. It means knowing that when you have chronic viral infections they are ALWAYS waiting for an “in.” It means leaving NOTHING to chance, and having spare pill cases in every bag with extra of everything, especially digestive enzymes. It also means spending HOURS AND HOURS trying to make the mail order medication people get it right. Which I sometimes think is just not ever going to happen.

Hyper-vigilance means scheduling the doctors. All of them. All the time. It means making sure all the screenings, for all the ridiculous number of cancers we are at an increased risk of developing, are done on schedule. It means often following up on those appointments, with imaging studies and more appointments. And then repeating those “unclear” imaging studies, again and again. It means getting blood work done, often. Usually at least once every 4 weeks. It means talking to the endocrinologist and problem solving with him when he admits “it doesn’t make sense” as you strive to help your girl at least feel better. It involves medication adjustments. Making sure it’s taken on an empty stomach, and every single day. It means there is always a list nearby of who needs to be scheduled next. It’s right alongside the pile of bills that have inevitably been messed up by someone, and now need receipts faxed and hours on the phone to be kept out of collection agencies.

Hyper-vigilance is hearing the symptoms every day and trying not to panic. When there is a headache, sharp and sudden, or a pain in the knee, or the back, or the shoulder, or the leg, and you know your kid is NOT a hypochondriac as some others would like to think, you have to listen, sort, and mentally file all of these. Hyper-vigilance is keeping track of which ones repeat and which ones go away on their own. Hyper-vigilance is being very aware, but never panicking. It’s a fine line.

Hyper-vigilance is Physical Therapy. As often as we can fit it in. Because something always hurts. When one foot is 2 sizes smaller than the other because the treatments for the AVM in the knee cut the blood flow to the foot, so the bone stopped growing, you end up “off sides”. The hip, the shoulder, the knee. They all hurt, and it won’t get better. It will only get managed. For as long as we can fit in the PT.

Hyper-vigilance is also finding balance. It’s also searching somewhere for “normal.” It’s making 4 swim practices a week, often on raw nerve. Because she wants to feel normal. She wants to compete. And let’s be truthful, she wants to win. It’s about me never really leaving the grounds of the college 12 extra hours a week because we are always one step away, and sometimes a half-step from “just in case,” and “what if.” It’s getting her to drama, because she’s skilled there. And she fits in. And the teacher is awesome, and the kids know her for who she is. It’s about balancing the schoolwork, and doing her best, while teaching her not to beat herself up. Too much stress is no good for anyone. Especially when you have this random tumor growing condition that preys on extra stress.

Hyper-vigilance is remembering I have this “Cowden’s Syndrome” too. It is making sure I am at my best so that she is at hers. It’s remembering that I sport fake silicone boobs as a constant reminder that I’m not invincible and cancer found me. It’s remembering they were worried enough to take the uterus and the ovaries too. It is working hard, at my job, and my life, and showing her it can be done. But it’s also about letting her know I get tired too. Because in those moments she sees that she is normal. And yesterday when I struggled to even walk up a flight of stairs, I saw the concern in her eyes. And she picked up the vacuum. And she helped. It’s teaching her to take care of herself by some days letting her take care of me.

Hyper-vigilance is walking. Me. Walking 4-5 miles a day almost every day. Because my bones are already crapping out. After 30 years on thyroid pills and 3 years after a hysterectomy, at 41 I’ve been placed on warning. It’s necessary for me to take good care of me. To fuel my body properly. To limit the junk in. To respect this body because it’s already got a lot going against it.

Hyper-vigilance is making decisions in the moment. It is having to say no, we can’t go. It’s not being able to tell people in advance. It takes away from advance planning, even the fun stuff. Because life with chronic illness is day by day. It makes me feel badly, often. So sometimes I avoid making plans. I don’t even like to volunteer for too much because I just don’t know whether things will be ok that morning.

Hyper-vigilance can be very isolating.

It’s hard for some people to understand. And I get it. Because a few years ago it might have been hard for me to understand too. It makes people uncomfortable that this thing we have is never going to get better. People feel better when things can be fixed. But it can’t. We are not going to grow out of it. It’s here. It’s part of us. Like the ‘elephant in the room.’ But, we understand other people’s problems too. We get the myriad of health issues that surround us. And we empathize. And we don’t need to be sheltered from them. As a matter of fact, we might like it is sometimes people shared their worries with us too.

Hyper-vigilance is exhausting. And today I took a two-hour nap. Because my throat started to hurt. And my body was giving me all the warning signs that I had pushed a little too far. I shortened the walk. I stayed in mostly.

It’s like training. For real life. Because there is not an event at the end, that will finish with a medal and a sense of accomplishment, and a new goal. My forever goal will be to keep us healthy, and to keep the Cowden’s Syndrome at bay. The only path to this end is hypervigilance. And even then, just like in life, there are no guarantees.

We remain forever Beatingcowdens!

Losing Count…

Published on August 28, 2015 by beatingcowdens4 Comments

In school I count children. Religiously. Especially in September. I count them in, and out.

I count pencils, to pacify my OCD. 12 to a table.

I count days until appointments, special occasions, and vacations. I love numbers.

I have a tendency to remember addresses, phone numbers, anniversaries and dates.

So it’s a really big deal in my mind when I realize I am losing count of Meghan’s surgical procedures.

I keep a list in my bag, that I update often. I have a 16 gig flash drive with a history spanning 12 years in that same ziploc bag in my purse. But, this year. Well, this year has been a little more wild than usual.

And every time I say it, I find the old saying, “You ain’t seen nothing yet..” coming true. But, every year I sit at an IEP meeting talking about discontinuing some services, and we always say, “When she goes a year with no surgery…”

Good thing I’m not holding my breath.

See I wrote, and I think I blogged, TWICE in the last week, that the hand surgery was Meghan’s 13th surgery. Except it wasn’t. It was the 14th.

And maybe, when I lose count, it’s time to stop counting. Because they are all starting to blur together.

2004- Epigastric hernia surgery

2007 – Gall Bladder Removed

2008 Tonsils and adenoids removed

2008 Back mass lipoma

2009 Oral “fibrous polyp”

2009 Embolization (internal) AVM right knee

2010 Embolization (internal) AVM right knee

2011 Direct Stick Embolization AVM right knee

2012 Direct Stick Embolization AVM right knee

2013 excision of mass from right palm

2014 complete thyroidectomy

Nov. 2014 emergency (direct stick) embolization AVM right knee

May 2015 Arthroscopic Surgery – Right knee

August 2015 Excision of vascular lesion from left palm

But, just as I think I should stop counting. Just as I think that this is “normal,” or that these procedures are somehow “minor,” I realize the ridiculous nature of that train of thought.

THIS IS NOT NORMAL. THIS IS COWDEN’S SYNDROME. And, BEATINGCOWDENS is what we do, but it is far from NORMAL!

This week, Meghan had a fever blister break out before her surgery. Maybe nerves, maybe coincidence, maybe a medication screw up. Whatever. It reminded me again, that her body is taxed. It is tired. I have been hunting through past blood work, another plan in place to try to deal with chronically low IgG levels.

She spent the 48 hours after the “minor” hand surgery with high fever and frightening headaches.

We had to postpone the follow-up to the “real” 13th surgery Thursday morning because she could not get into the car.

No surgery is minor. And we run the risk of confusing things we are used to with things that are not significant. And that is a dangerous road.

It is so important to keep validated, as an adolescent or as an adult. When we trivialize procedures, intentionally or not, we invalidate the patient. Cowden’s Syndrome patients will undergo insane numbers of procedures, surgeries, hospitalizations and testing in their lives. They all matter. Because we matter. And while we are forever grateful every time a surgery is smooth, benign, and uncomplicated, we are all a little more rattled than we were before.

So LOSING COUNT, is not acceptable. It somehow trivializes the nature of what goes on here.

We didn’t get to the beach this summer. We did get to Disney. Thank goodness. Because pretty much everything else we did involved traffic, a co-pay and a parking garage.

We are blessed. We are grateful. We are in tune to the tragedies and horrors around us. But, sometimes it gets lonely.

We miss barbeques and parties. We cancel at the last-minute. We rarely socialize. It’s not because we don’t want to. It’s because things change so quickly we can not keep up. And then it looks like we don’t want to. But, it’s just not true.

We are eternally grateful to the people who reach out. Just for a minute. Because it matters.

If you’re reading this because you know someone with Cowden’s or a similar syndrome, my advice to you is reach out. Text. Call. Email. It’s not about money, or grand gestures. It’s the 5 minutes you spend that will truly aid in the recovery process.

Because recovery is essential. Number 15 is just around the corner. And even though that’s a “regular” surgery, I bet not many of us have had our wisdom teeth extracted at the age of 12.

It’s physical.

It’s mental.

It’s emotional.

It does not stop.