DO SOMETHING!

Published on April 13, 2016April 13, 2016 by beatingcowdens1 Comment

The story of how a New York City girl got the ear of a West Virginia Congressman is a long windy one that involves the depth of love and dedication the United States Marines hold for their own. That loyalty and brotherhood extends through generations in ways that would be difficult to explain in words.

That, will be the story for another day.

For today, what you need to know is one of those Marines, who I hold very dear, heard me when I spoke. He listened when I told him how my father apologized upon learning Meghan and I had been diagnosed with the PTEN mutation that causes Cowden’s Syndrome.

Once Dad understood the PTEN mutation, he became very sure that he “brought this back from Vietnam.” Dad was certain that his exposure to Agent Orange in the jungles of Vietnam had changed his body. He was also sure that the toxin was responsible for what my genetecist deemed a germline (inherited) mutation in Meghan and I.

We know for sure that Meghan got her mutation from me. What we don’t know with certainty is where mine came from. My mother and younger (half) sister on my mother’s side tested negative for PTEN. My father was never tested. Before I could ask, he passed away from Pancreatic Cancer in December 2013. However, we do know my mutation was not “de novo,” or spontaneous. We know it was germline, “most likely passed through the sperm of your father,” my genetecist explained.

So, all we had to go on were Dad’s instincts, which I knew were in no way going to ever prove causative to the US Government.

But I reached out, and I acquired anecdotal evidence from my online support groups where 4 people other than myself indicated a first degree relative with a similar toxic exposure. In a disorder as rare as Cowden’s Syndrome (1 in 200,000) with group sizes in the low 100s in most cases, these were numbers worth noticing.

Sometimes a theory is all you need. And when you eliminate the need to “prove” and you focus on the need to “educate” and “raise awareness,” sometimes you can make progress.

Today, the story is about how Congressman David McKinley (West Virginia) and his staff listened when we spoke about Cowden’s Syndrome. And they did something.

I was put into contact with Lou Hrkman, the Executive Assistant to Congressman David B. McKinley, P.E. (WV-01). (412 Cannon Building Washington, DC 20515 (202) 225-4172) through that Marine I mentioned earlier. Alan doesn’t give up.

I shared an explanation with Mr. Hrkman, of Cowden’s Syndrome, and more specifically PTEN Mutations. I told him about the impact on our lives. I told him about my father’s instincts. I talked to him about how, with a syndrome like this, KNOWING SAVES LIVES. We spoke about veterans and toxic exposure. We spoke about the thought that exposure could alter genetics. We talked about RARE DISEASES, and more specifically, RARE GENETIC DISEASES. We spoke about how if the doctors at the VA were trained to look for these disorders, or to be more aware, or to educate veterans, or to look for these disorders in descendents of veterans, that it is likely LIVES WILL BE SAVED.

This week I was contacted by Mr. Hrkman, on behalf of Congressman McKinley, to draw my attention to the last paragraph on page 47 of the…

It says…

And there it was. In print. For the VA Hospital System to be held accountable for education.

It is not passed yet. The specifics of the bill need to be debated in Congress, but he is confident.

We who are so anxious to be heard, to be noticed, to be recognized, this is a huge first step. And while I realize many of you are not relatives of Veterans, I feel it is SO important that we take this opportunity to raise awareness NOW!

I asked Mr. Hrkman what people can do.

Here was his reply…

It sounds quaint, but writing or meeting with your congressman is the best thing you can do. Members take notice when their constituents are interested, especially on a personal basis versus a mass mailing or robo call thing. If you write your member, specifically reference the document I sent you (Military Construction, Veteran’s Affairs, and Related Agencies Appropriations Bill, 2017) and the page number. (Page 47) I would also contact Vietnam Veterans and other Vet groups, but Vietnam Vets are especially affected.

PLEASE, right now, my American Friends, contact your representative in Congress. Let’s make them HEAR US. ALL OF US. This could be the start…

PLEASE, share this post far and wide. Tag anyone who you think might help.

It’s time for us to DO SOMETHING…

“Do Something” by Matthew West

I woke up this morning
Saw a world full of trouble now
Thought, how’d we ever get so far down
How’s it ever gonna turn around
So I turned my eyes to Heaven
I thought, “God, why don’t You do something?”
Well, I just couldn’t bear the thought of
People living in poverty
Children sold into slavery
The thought disgusted me
So, I shook my fist at Heaven
Said, “God, why don’t You do something?”
He said, “I did, I created you”If not us, then who
If not me and you
Right now, it’s time for us to do something
If not now, then when
Will we see an end
To all this pain
It’s not enough to do nothing
It’s time for us to do something

I’m so tired of talking
About how we are God’s hands and feet
But it’s easier to say than to be
Live like angels of apathy who tell ourselves
It’s alright, “somebody else will do something”
Well, I don’t know about you
But I’m sick and tired of life with no desire
I don’t want a flame, I want a fire
I wanna be the one who stands up and says,
“I’m gonna do something”

If not us, then who
If not me and you
Right now, it’s time for us to do something
If not now, then when
Will we see an end
To all this pain
It’s not enough to do nothing
It’s time for us to do something

We are the salt of the earth
We are a city on a hill (shine shine, shine shine)
But we’re never gonna change the world
By standing still
No we won’t stand still
No we won’t stand still
No we won’t stand still

This Matters

Published on April 7, 2016April 7, 2016 by beatingcowdensLeave a comment

A few weeks ago, as we were preparing for World Rare Disease Day, my principal allowed Meghan to speak to my school. She did an assembly for the entire school, first grades 3-5 and then grades K-2.

In both assemblies she showed her video, although we clipped the beginning from the little guys.

In both assemblies she spoke about Cowden’s Syndrome, following her mission to raise awareness.

Our Student Council actively worked to collect denim as part of a fundraiser for the mission. They were amazing.

One little girl, our first grade friend Emma shared her journal with Meghan.

Then she shared the journal with the whole school. We are so proud of Emma and thankful for her bravery. It felt really good to know the mission of awareness was working, coupled with intelligent compassion as young as first grade!

We had the fundraiser on the 21st of February. The $13,000 has been dispersed, but the lessons remain.

Children in my hallways ask about “Meghan” as if she is one of them. They want to know how she is, and what she’s up to. A few even ask when she is coming back. These are the young, bright eyed reasons I love my job.

Plus one more

About 2 weeks ago a young lady sought me out to give this to me. This was a labor for her, truly a labor of love. Writing is not easy, but clearly compassion is a natural emotion for her.

We are getting somewhere. Meghan wants the world to know. With promising children like this on her side, she’s developing the advocates young.

With much love and gratitude, we remain

#beatingcowdens

Onward…

Published on March 20, 2016 by beatingcowdensLeave a comment

“Onward Christian Soldiers, marching as to war, with the cross of Jesus going on before…” That was one of Pop’s favorite hymns growing up in our Lutheran Church. He sang it loud. He lived it softly, but meaningfully…

It’s been a long time since I have written and I am sorry.

Writing is my therapy. It’s free and easy. When there is a few minutes to do it.

And that, well that has been the problem these last few weeks.

I know it’s hard to imagine life getting so crazy that I wouldn’t have an hour or two a week to get my thoughts together, but it’s true.

Time to catch you all up –

On Sunday, February 21, 2016 the Second Annual “Genes for Rare Genes” fundraiser took place at the Hilton Garden Inn on Staten Island. We had www.yeehahbob.com Bob Jackson from Walt Disney World at the piano entertaining the masses. We had generously donated raffles galore. We had 178 friends and family with us, raising money and awareness for Rare Diseases. We had Meghan, hosting, and giving her speech and showing her video. https://beatingcowdens.com/2016/02/21/meghans-rare-disease-day-video-and-speech-2016/ We had Borough President Oddo stop by to continue to support Meghan in her desire to raise awareness and funds. We had Charlie Balloons entertaining the children and the adults too.

Bob Jackson - Our Disney Friend — **Bob Jackson – Our Disney Friend**

It was a perfect day, and a month later I can tell you the total funds raised were $13,045.40 to be exact! A large portion of that money has been sent to the PTEN Foundation and will have a significant impact on helping people like us with PTEN Mutations. The balance of the money is soon to be on it’s way to the Global Genes Project They will always be near and dear to Meghan. We identified first with the denim ribbon, and the logo “Hope, It’s in our Genes.” And that is the site we learned first about Rare Diseases, and that we in fact are among the lucky ones. These are lessons we will never forget.

Finally, I THINK, (and I apologize if we forgot anyone) all the thank you notes have been written or Emailed. When I finally settled down to do it, there were over 80. Meg helped, but I just flat out write faster. Now, we rest on that a bit, while we consider what changes and what remains the same for next year.

But, life did not even pause while we planned this event. My grandfather, my 96 year old grandfather, who was still living on the second floor of the two family home my mother grew up in, caring for my grandma, his bride of 70 years, fell on January 13th. This set of a tirade of events of the next few weeks that brought us all through an emotional roller coaster. My grandparents were the center of my world for much of my life, and even though I am blessed to have had them for 42 years, it is hard to imagine navigating life without them. Pop visited two hospitals, had mutliple strokes, and ultimately ended up in the nursing home for rehabilitation. The rehab was not meant to be, and on March 3rd he passed away peacefully, after some tumultuous days.

Pop - So much to so many — **Pop – So much to so many**

Grandma, now resides in that same nursing home. Alzheimer’s has robbed her of much of her memory, but she is well cared for by kind, patient people. She is safe. She is calmer. This is a good thing. And, in one of many ironies, perhaps her disease has been a blessing. There was no need for her to say goodbye to Pop, as he always seems to be just “across the room” when we visit. They were never meant to be apart any way.

Always together... — **Always together…**

We celebrated Pop’s life at a beautiful service on March 12th. My conscious mind, the rational one, is grateful he is at peace, and thrilled to know he is Home in Heaven. The little girl in me, the one who adores her grandfather is sad. Just very sad, and not looking forward to the series of “firsts” in front of us as reality sets in.

I planted the seedlings for my garden, just as my Pop showed me. I am tending to them on the kitchen table with plenty of sunlight. They have begun to sprout.

And those seedlings, and signs of new life remind me of why Pop loved the garden so. It is refreshing to see growth, new life, and new promise each day.

We celebrated Kathi’s bridal shower, as she and Jon will marry April 15th. All things new.

Time keeps passing.

In the interim there have been regular Mommy things to do, like swim practice, and doctor’s appointments, and household stuff. Thankfully in this house we have a very, very helpful Daddy, and we do a lot of team work. Thanks to him, all those weeks I was out of commission cherishing every moment with Pop, he was here, keeping it all going.

Last week we went dress shopping for some of the events coming quickly.

This week it was shoe shopping. Shopping for shoes is never as much fun, because it is hard to find a shoe that is 12 years old, and supports those feet, knees and legs. The right knee, the site of 6 surgeries targeting that AVM, has residual damage. The muscles are not formed as well, obvious only to Meghan when she puts on a pair of jeans. The foot is over one full size smaller than the other, and it is skinnier too. So, we buy two pairs of shoes to make one “pair.” We are careful. Frugal when we can be as it’s all x2, but focus is always on fit, style and comfort combined. No easy task. But, we did it.

Meghan left the store apologizing for the bill. I told her how grateful I am that we can pay for shoes, and other things. We had a long talk about the phrase, “I cried because I had no shoes, then I met a man who had no feet.” It fits nicely with the perspective talks we have all the time.

Tonight I was thrilled to find a website that will allow me to donate her “other” shoes to amputees. She was excited too. Something that will make us both feel better.

This week I scheduled some more appointments. I was waiting.

Friday we head to the gyn for the 3 month follow up. The hormones are a nightmare, but that’s for another post. The next biopsy is supposed to be in June…

The dermatologist 6 month will be during spring break. So will the orthopedist.

Cowden’s wasn’t gone. Heck, it wasn’t even resting. I was just using a big stick to hold it at bay for a few weeks. I’m sure I left some stuff out. It’ll come up if it was all that important. Just know-

We are still #BEATINGCOWDENS!

Onward…

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!

Inspiration

Published on February 17, 2016 by beatingcowdens1 Comment

Mother. Father. Daughter. Son. Spouse. Sister. Brother. Grandparent. Aunt. Uncle. Niece. Nephew. Friend.

If we are lucky, we connect the word “Inspiration” with one or more of them in our lives.

It’s been a really long month. And on the surface we have been preparing for the Second Annual “Jeans for Rare Genes” Fundraiser at the Hilton this Sunday, February 21st. ( TICKETS FOR THE FUNDRAISER – HERE )

My husband has been wrapping baskets. My daughter has been soliciting donations, and publicizing the event. She was invited to speak at a Young Republicans Meeting, a Junior Giving Circle Meeting at IS75, and she was invited to speak to PS30 in Westerleigh. Tonight she is thrilled to be speaking at the Staten Island Giving Circle Meeting. Staten Island Giving Circle

I have been trying to stay on top of vendors, and seating, and tickets. But I have been distracted. We have all been distracted.

Those two, in the center, my grandparents, are at the center of this family. They are the inspiration. It is their ripple effect that allows all of us to do what we can to make the world better. They are married 70 years. She is 95. He is 96. And until just over a month ago he lovingly cared for her with the limited assistance of my mom and a 4 hour a day aide. He cooked, cleaned, shopped, did the laundry, paid the bills. And endured a great deal, out of love. Pure love.

My grandfather spent 4 years in service to our country during World War II. He married my Grandma a few weeks after returning in December of 1945. He became a member of the FDNY for 23 years. They raised two children. They acted as second parents for many years to my older sister and myself. We watched Pop, a man of faith, not talk the talk, but also ‘walk the walk.’

I learned the meaning of inspiration through his humble humility. I learned love by watching him kiss Grandma every time he left the house. I learned generosity by watching him give of himself, unceasing, to neighbors, friends, and especially family. He inspires my life, and daily inspires me to be a better person.

His health is failing. In one month the transformation is utterly disturbing. And yet, he managed the strength to mouth the words to “Jesus Loves Me” and the Lord’s Prayer on Sunday as my brother-in-law gave us communion. I’ve been distracted by one of my inspirations.

His stubbornness, one of his best, and most challenging qualities, is one I passed on to my daughter.

Most of you know her story well. For those who don’t I’ll give you the shortest version I can.

She was born in distress, spent 4 days as the biggest, fiestiest baby in the NICU before heading home. There was a year or more of colicky sleepless nights, which melded together with hospital visits, the first of many surgeries to come, developmental delays, early intervention, and so on. By the time she was three I had CPSE telling me she’d never sit in a normal PreK or a regular school. We read, and researched, and peeled away layers in ways that were sometimes conventional and sometimes alternative. We found a combination of strategies that left my girl in an honors program early in her academic career.

The surgeries kept coming. The doctors appointments were relentless. The Physical Therapist Dr. Jill who loved her so much, pushed me to genetic testing. There the diagnosis of PTEN mutation, or Cowden’s Syndrome changed things forever.

Now there was a name. Now there was a reason. But now there was so much more to be worried about. Now people scurried and scampered about and whispered and doctors “googled” while we were in the room. Now her diagnosis prompted MY diagnosis, as Cowden’s is inherited. And so much of my own medical history made sense.

Four years ago I was pushed to undergo a bilateral mastectomy. It was supposed to be prophylactic based on the insane breast cancer risks for Cowden’s Syndrome patients. And then on pathology there was the breast cancer diagnosis, and the realization that my daughter saved my life. Humbled.

The surgeries persist. And get more complicated as the years go on. Life gets more complicated when you are 12 and in Junior High. Kids don’t really get this life. And well, they shouldn’t. But it gets lonely.

Sometimes she gets angry. Mostly she tolerates the loneliness. Mostly she channels her energy. She dreams of cures. She knows cures take money. So she spearheads fundraisers. She talks even when no one listens. She is grateful for her Cowden’s in the midst of the rare diseases we have seen.

She gave up soccer, and running, and dance. She hurts after normal kid play. She gets frustrated. Then she swims. Not to be put off, she found the place she can compete. And she pushes herself to be better every day.

She does well in school. Although it’s not always politically correct to talk about it. I’m her Mom, so I can say it.

She gets up every day. She smiles. She reaches. She inspires. Me, and countless others. I am one of the lucky ones who has been inspired by many – right in my own family.

So, a few weeks ago when the local paper asked for an inspirational Staten Islander, she was my natural choice. And I wrote, honestly, and without a second thought.

When the paper came out asking for us to vote I read every bio. And I was inspired. By all of them. Then Meghan read them. She was so touched I had written about her, she told me she’s be proud to lose to any of them.

There was a Facebook post this morning by the daughter of another nominee. Her Dad sounds like a stellar man. He offered to do anything for Meghan. He is kind and generous of heart. The daughter is lucky, as I am lucky. We have inspiration right in our own families.

Maybe we can all meet at the fundraiser Sunday!

TICKETS FOR SUNDAY 2/21 HERE!

You can read all about all of them and vote below.

Somehow, I think they’ve all won.

READ AND VOTE FOR INSPIRATIONAL STATEN ISLANDER!

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!

The Patient or The Person?

Published on December 13, 2015 by beatingcowdensLeave a comment

I am sure I am not the only one, especially the only parent, who struggles daily with wondering if I have made the best choices for my daughter.

Sometimes we argue, and bicker, and I find myself wondering if I am reaching her. Other times I look at all her activities and wonder if she is too busy. Still other times, I look at her and I see those tired eyes, and I wonder what I can do to make things better.

Choices. Life is about choices. And around 12 years old is that transitional time where more and more of the choices become hers, not mine. I can guide, and support, but she is beginning to make more of her own choices, and handle their consequences, be they positive, or not.

She is doing a great job, and truly despite a few hiccups, I could not be more proud. But I will always worry.

The one area though, where the decisions are mine and her father’s to make, are the complex medical decisions. And with Meghan there are many. I have to wrestle with my roles, advocating for her best interests physically, mentally, and emotionally.

This has been a growing process for me, and there has been such a learning curve. With Meghan there is always a medical decision, always a worry, always something that has to be checked out and looked at. Many of these things have potentially serious consequences. But, she is not a medical specimen, with a fascinating genetic disorder. She is a child, a young lady, with hopes, dreams, goals, and emotions. Finding the balance between who she is and what she needs is tenuous.

Sometimes I get it wrong.

This time, I got it right.

The doctors are worried. She needs a biopsy. But, it’s not her first biopsy, and it won’t be her last. There is reason for concern, and we take that concern very seriously. The biopsy was to take place on the 9th of December, the first available. It would keep her from swimming for about 10 days.

She looked at me. I knew in my gut what to do.

No, you’ll have to book her for the 16th. (Even knowing the extra week of waiting would be agonizing for me.)

The doctor looked puzzled. But…

Listen, she has her drama concert on the 10th, and her swim meet on the 12th and 13th. She’s primed and ready to qualify for a championship meet. One week is not going to change that biopsy. You and I both know, it is already whatever it is.

She looked at me. She looked at Meghan.

My eyes locked with my girl. In those eyes she thanked me for putting her the person, before her the patient.

Thursday there was this…

Saturday, there was this…

And before the meet was over she had personal best times in 4 out of 5 events, and 2 qualifying times for Silver Championships.

We have no idea what Wednesday and the ensuing week waiting for pathology will bring.

But, there is a peace in knowing the person is always more important than the patient.

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.

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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).

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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