“Hey, I follow you on Facebook…”

Published on April 29, 2016 by beatingcowdens1 Comment

There we were in the back of DSW looking for a pair (or two for accuracy sake) to fit the feet of my girl for “Aunt Em” in her school’s performance of “The Wizard of Oz” next week, and a woman approached us. She was happy, and friendly, and it seemed excited to see us. Meghan and I had never seen her before in our lives. But, she seemed to know an awful lot about us.

“Hey, I follow you on Facebook!. I am amazed by your story. And you guys stay so positive all the time. Such an inspiration!”

I’m not sure either of us knew quite what to do, so we smiled politely and said our thank yous.

Then we looked at each other.

Did someone just recognize us? Like we matter? A complete stranger? Wild.

There are times I write, or we write, and I feel it is simply a therapeutic output into cyberspace. Yet, we receive messages, some from all over the world, confirming our story is getting out there. We know all about digital footprints. But Wednesday, well we finally saw our own – face to face. In the shoe store.

Why do we tell our story? Why do we keep at it through the mundane and the heart-stopping? Meghan says, because the truth needs to be there. When someone looks, they need to find real people like us, getting by, every day.

I guess she’s right. She often is, although I don’t make a practice of TELLING her that…

Spring Break 2016

It sounds almost funny to say it. But, we are ALMOST used to it. See, there ARE no breaks. There just aren’t.

Doctors appointments take time. On average 4 hours roundtrip to Manhattan considering wait time and traffic. I have work. Meghan has school. We miss more than we should of each. Routine appointments are for days off. That’s how it has to be. But, then you add in a flu-like virus from who knows where, and you insert about 3 extra visits to the pediatrician, on top of a cardiologist, just to be safe, well by the time you get to the routine sono of the thyroid bed (where the gland was removed to check for regrowth,) and the dermatologist, and the endocrinologist, and the traffic, and the very fair school project… There is just about enough time to switch a closet or two, wash a few windows, and about HALF the curtains you intended to, while sneaking in one LONG trip to the grocery store.

We spent the early part of the break watching a few movies on Amazon Prime. This is a real treat for Meghan because I am ROTTEN at sitting still.

And somewhere in between “Ferris Beuller” and “Annie” we grabbed a few lessons.

From “It’s a Hard Knock Life…”

“Don’t if feel like the wind is always howling?
Don’t it seem like there’s never any light?
Once a day, don’t you wanna throw the towel in?
It’s easier than puttin’ up a fight..”

Sometimes when I come into the house I love, instead of feeling calm and relaxed, my heart starts to race. I think of the papers, and the phone calls, and the bills, and the scheduling, and the terror of missing something, and the compulsion to keep up with the basics, and I just want to sit on the floor and cry. Sometimes I even do. Sometimes I even get grumpy for a while. Then, usually when no one is watching I’ll grab a dog and rub a belly, or do something silly to try to shake off the enormity of it all.

I remind myself it’s about every little piece. It’s about one day at a time. It’s about counting the days with no headache instead of always the days with knee and hip pain. It’s about looking at the pile, neatening it up. Making a list, and leaving it there to go for a walk. Some days I get it better than others, but I’m a work in progress.

Yesterday, we did well with the pediatrician. He drew some more labs, but feels she’ll be well enough for full activity Monday. The dermatologist, routine Cowden’s Screen, was without incident too.

Today, the new endocrinologist (only our second visit) proved himself to be a wonderful addition to the team I am so desperately trying to form for Meghan. I DREAM of the day I get them all together, assign a captain and let THEM help me. But, for now, he is bright, inquisitive, and willing to toss out the “rules” when he treats Meghan. So the hormone that we had to ditch, the medicine that was out to save the uterus that now has to save itself, well that medicine can mess with T3 Uptake, one of the thyroid hormones. Meghan has a hard time converting T4 (Synthroid) into T3, so we actually supplement with T3. Most doctors have no idea. He said lets raise it and check her in 2 weeks. Works for me. Feeling like a validated human is priceless because this child is so exhausted all the time, it’s just not ok.

He scanned that thyroid sonogram report, reassured us about a renegade “reactive node,” and moved it to the “watch list.”

The next few weeks are set to be a whirlwind. I can only pray her body is up for the task. Lots of good, and happy things on the agenda.

It’s a busy life. I wanted to see some people this week. I wanted to reconnect with at least one friend. I know they are out there. And yet again, the week didn’t allow me any advance planning. Can’t expect people to wait around for me. So my music and my computer keep me company, with the laundry and the dishwasher, while Felix and Meghan celebrate at a Sweet 16. It’s good for them to get out together sometimes too.

#Beatingcowdens

requires focus, stamina, and its own brand of mental toughness.

We’ve got this.

“…plans to give you HOPE and a future.”

Published on April 24, 2016 by beatingcowdensLeave a comment

When you’re in the middle of it, it’s often hard to see it. You’re in the middle of it, trying to be careful, protective and nurturing. You’re in the middle of it, often wide awake hours longer than your body wants to comprehend. Sometimes you’re terrified. Sometimes you’re confident. Often you’re in prayer. This thing. It’s big. Too big. Like a giant web with unmanageable offshoots.

Somewhere in between trying to get back to school after a night in the ICU last Sunday, and this Saturday morning when she woke, not ready to swim, but with a raging 102.5 fever, I lived a few years.

The last few nights I’ve lived a few more.

Fortunately, I take pretty good care of my body, and when she’s well I make covering between 7 and 9 miles a day a priority. I make eating well a priority always. I invest in nutritional cleansing by choice. It’s a lifestyle. I focus on taking the stairs when I can. Laughing with the elementary school children as I hit the 4 flights in our building over and over is good for me, and them. Some people train for marathons. I train for life. It’s a bit of a marathon itself.

It’s quiet here. Nothing stops a conversation faster than telling in honest frank terms the newest challenges Cowden’s has thrust in our faces. Last week there was the trouble breathing and the debacle of no answers at the ICU.

Tuesday the orthopedist recognized uncharacteristic tightness in al her muscles. Her hips and legs were in full spasms. He was confused. Updating him on what was new since our last visit included the D&C amd precancerous cells in the uterus. It included letting him know she is now on 10mg a day of progesterone. To say he was unsettled be an understatement. He let us in on his fears that the hormones were causing muscular issues, and that he feared her vascular malformation could indicate a tendency towards blood clots which this hormone level left the door wide open for.

Sigh. Growl. He left no bones about where he stood. He withstood our questioning about risks and benefits. He disagreed with the hormones. End of story. I asked if we were to return in 6 months. I was told 2 months. He’s concerned.

And as the week went on she continued to just feel worse. For the second week in a row, only one swim practice. An indicator of the severity of things. By Thursday I reached out to the Adolescent Gyn. She called while we were in the pediatricians office stating how poorly Meg felt. All the suspicious virus tests came through negative. CBC was normal. Our Pediatrician spoke to the Gyn. With reservation on her part, and too much “soft evidence” cited by him. the decision was made to pull the hormone.

This is NOT a decision to be taken lightly, for so many reasons. The least of which, yet still significant, is the generalized body discomfort that came with the months prior to the D&C, and prior to the hormones. It was torture for her. Then, there was the clear declaration, (because everyone likes to speak to the very smart 12-year-old,) that this hormone treatment, this move to arrest cellular growth in the uterus was the BEST way to help ward of cancerous tissue trying to form. In other words this hormone causing chaos in her body was her best shot at avoiding uterine cancer.

So to be in my head was not a good place. To be in the head of my girl… No words.

She woke up Saturday morning very unwell. I don’t recall the last fever. This one was 102.3 at 9AM. Back to the pediatrician we went. Tamiflu and 2 antibiotics. Hit whatever it is hard, real hard, and keep her out of the hospital. That was the plan.

So far it seems we’re on the right track. The fever is waning. The breathing is sometimes tricky. The phlegm is thick. She’s tough. She’d hydrated. She’s resting. She’s doing her part.

There are decisions that have to be made while #beatingcowdens that no one should have to make. There are guesses and speculations we have to play into, with no guide and no proven statistics. We have to focus on today. We have to make decisions based on today, and quality of life issues right now. But even these are insanely complex.

We have a strong girl. We are thankful. We have a God who has a plan. We are thankful for that as well.

There are times, as humans, we want to know more. We want a guarantee. We want insight into the plan. It is a sign of our weakness. We are working on it. Our God will continue to guide us, strengthen us, and move us forward. Be need to breathe in peace and faith.

Some days this is not an easy task.

To our friends, please know we don’t hide. We don’t avoid RSVPs to be difficult. We don’t back out at the last moment because we want to. We miss you. We are anxious for easy, comfortable gatherings. Life just seems to toss things in the way – often enough it gets difficult to dodge.

It’s ok if you don’t have words when we throw heavy stuff on you. It’s ok. Sometimes just to listen is all we could ever ask for. Please listen.

We have not lost touch with your lives. We understand we are not alone in challenges. Do not feel you have to protect us by not sharing. You trusting us, makes us feel valuable. It makes us feel we matter to you.

See just because #beatingcowdens has overtaken our lives doesn’t mean we’ve lost touch with reality. We want to see your baby photos, and hear about first steps, and awards, and sporting events. Call. text, Email, write. Know we haven’t left you for a better deal. We, like you, are just keeping our heads above water.

We remain always, #beatingcowdens

This is Our Reality

Published on April 2, 2016April 2, 2016 by beatingcowdens2 Comments

Alone, in a crowded room.

As I look around frantically trying to figure out exactly where, or how I fit, with anyone, my mind wanders. I can’t seem to make conversation, or to pass the time socially as easily as others. I watch. I retreat as soon as I can. I can’t quiet my head. And, knowing the whole line of thinking that occupies my mind some days makes everyone uncomfortable, I step back into myself to cycle through reality.

“Those hormones? Are they causing her headaches? Or is it something more sinister? How would I even know? Do we need to use another MRI? What if it is the hormones? What choice do we have? The doctor said she has to stay on them to stop the development of those “irregular cells” in the uterus they found in December. They’ve already begun to schedule another D & C for July. “You have to make sure…” The uterus is a prime site for malignancy in Cowden’s Syndrome. I got to keep mine until Meghan was 8. Will she get to keep hers? Will she have the chance to make the choice whether she wants to bear her own children? And, even if we save the uterus and she wants to, will it be viable after 15, 18, 20 years of hormone treatment? And at what cost to the rest of her body? What about the breast cancer threat that looms large to a young woman whose Cowden’s Syndrome alone puts her at an 85% lifetime risk. That coupled with a mother and grandmother who have had breast cancer… sigh…why is it even a topic of conversation when she’s 12? It seems so unjust. This issue shouldn’t have to be addressed now, well not ever really, but especially not now. And when she has the headaches I have to give her something. What about the headache medicine? What about that esophagus we are trying to heal?

Is it those medicines that caused the horrendous reflux after Easter, or was it her MINOR indulgence into a few SAFE sweets? Why should a slight indulgence cause such discomfort and vomiting? Why does she have to be so careful all the time about everything? No wonder she is so serious. And what if it is the headache medicine? What am I supposed to do to help her? Tell her she has to deal with it? I can’t imagine “toughing out” a blinding headache.

The knee. Oh the knee. She tries not to complain about it, but I see when she struggles. The AVM is finally stable, but the leg takes a lot of work to develop. She works hard on it too. But, the stamina isn’t there. Hours in a pool yes, on land, no way. Standing too long, walking the mall, or for a short walk, things we take for granted cause such pain. And pain causes fatigue. And on the occasions she relents and allows the wheelchair into use, she struggles. Not for the need to use it temporarily, but for fear of insulting those who have to use it all the time. She is proud. She is frequently humbled. She is conflicted.

And who wouldn’t be? 16 surgeries before the 13th birthday. The need to be tough all the time, while you feel weak. The desire to be stronger. Having to fight, hard, for physical accomplishments. Having to accept the ones that will never be. Never giving up. Pushing to be better. To make the world better.

She’s not perfect. Never has been. And oh, there are DAYS… But she is good, in her heart. She means well. She has no spite or malice, and I can pray it remains that way. I can pray that the children who don’t get it, one day come to understand her, just a little better. That one day they can accept her, for the good in her.

I scheduled 3 doctors appointments for the next three weeks. Dermatology, orthopedics, and endocrinology. The first is a screening. Cowden’s Syndrome, melanoma risks. Her father’s increased risk of melanoma on another unrelated genetic disorder. Her grandmother’s melanoma this summer. Every 6 months they told me. Bring her every six months. The others will work on long-term plans. Spring break. Every holiday, every vacation. Every day off. Doctors. Not the mall, or a friend’s house. Doctors. For what? And I’ve toned down the list quite a bit.

There are two bills of my desk. One for her and one for me. Both a battle. Always a battle. If it’s not the reality, or the appointments, it’s the bills. And we are so fortunate to have insurance. But, the hours. Oh my goodness, the hours…”

I try to shake it off. To stay focused on the good. On the positive. On the blessings, and they do abound. But, so often it’s just me, and my head. Working to get out of my own way.

I miss my Pop. I miss my Grandma even though she’s still here. I miss their goodness. I miss my Dad. I miss his listening ears.

I quiet the voices a little and try to follow the conversation around me. I smile politely and nod. I stay quiet. “It’s good.” “We’re good.” That’s about all they can handle anyway. Even the ones who genuinely do care. Why drag someone to a place where there is absolutely nothing they can do or say?

This is our reality. This is Cowden’s Syndrome. This is every day. As long as we have breath, and strength, and stamina to shake off the pain, place the smile firmly where it goes and press on, we will.

Because the real reality is that every person in the room may have a similar string of thoughts in their head. The reality remains that EVERYONE HAS SOMETHING…

I booked dinners for our Disney trip today. I like to plan ahead. Plus, Disney gives me a little extra strength, so that we can remain always,

#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…

“Super” Man

Published on March 6, 2016March 6, 2016 by beatingcowdensLeave a comment

**Pop brought a smile, love and humor to our lives.**

Superheroes are invincible. No matter what they always find a way to pull through. They make complicated tasks look easy. They make the world a better place just by being there.

Thursday night my family said goodbye to our Superhero. Pop passed away at the age of 96.

Now, before you get on about telling me how lucky I am. I know. Before you tell me he lived a good life, I know. Before you tell me, “at least he’s at peace.” I know that too. I recognize fully that I am 42 years old and I am saying goodbye to my GRANDFATHER. I get how epic it is that he got to know and love his great-grandchildren. I understand all of it. I am acutely aware of young, tragic stories that pepper this world. And, my heart breaks for each of them. But, please don’t think for a moment it will make enduring this loss even the tiniest bit easier.

For every moment of my 42 years there has been Pop. There has been the ability to call him, to chat with him, to follow him around, to hear his stories, to receive his hugs, his humor, and his love. There was Pop to read to me as a young child. There was Pop to teach me about the basics of a car, and oil changes when I went to college. There was Pop to dance with me at my wedding. There was Pop to take his 80-year-old body to my house every day and place my wood trim, piece by piece. There has always been Pop. And now there isn’t.

There was Pop and Grandma living upstairs during the years when Mom had to work a lot. There was Pop to drive me everywhere. There was Pop to record important events. There was Pop who NEVER said,”No,” and NEVER made you feel like you were bothering him. There was Pop who played in his garden, growing lima beans, string beans, cucumbers and tomatoes. There was Pop who built his own deck, and sided his own house. There was Pop who made everything look easy. There was Pop who made rocking horses for grandchildren and great-grandchildren. There was Pop who picked up Meghan from the school bus until about 4 years ago. I could sit here forever and the list would just extend. There has always been Pop. And now there isn’t.

I’ve been pretty silent on this blog for a few weeks. Not because Cowden’s up and left us alone. But, rather because there were other things that needed attention more. For a little while.

I got the call on January 13th that he was at the hospital. He had fallen. They were testing. He was discharged a few days later, although he was only home a few days. Before the rehab could start, he was taken to a different hospital. Strokes were occurring. There was an attempt at rehab there, and then a move to the telemetry floor, and finally a move to a local nursing home to try some rehab there. The strokes had taken away the thing he prided himself on, his mobility. The right leg wasn’t interested in coming around, despite efforts from several good therapists over many weeks.

Pop was many things to many people, but he was undeniably stubborn. That tenacity undoubtedly is what had carried him through the months preceding the series of strokes. He had Grandma, and he was set on taking care of his bride of 70 years, at all costs. He knew we were losing her to alzheimer’s. He was aware in so many ways. Yet, he was unrelenting in his forceful desire to care for her at home, “as long as God gives me breath.” He took only help from my Mom, and in the very short time preceding his hospitalization there was an aide for a few hours each day. But he, cooked, cleaned up, did laundry, shopped. And they lived on the SECOND floor of their home.

He modeled “in sickness and in health,” and “for better or for worse,” in ways that people do not even comprehend anymore. He took his vows and his promises so seriously. I learned what it meant to be married watching them through the years. They modeled love and respect, and he never ever walked away without kissing her goodbye.

That’s why he pushed so hard. Just as he had for all of us through the years, he was propelled by love of God and love of family. He drove his own car, albeit short distances. He handled the bills, the paperwork, and navigated Email and the internet. In the weeks before he passed we watched our 96-year-old Pop go from behaving like he was 70, to being 96. And it was not easy to watch over 25 years catch up with him in those weeks. It was not easy to watch the frustration, the desire to move, and the pounds slipping away as even eating became a challenge.

Grandma now resides in the nursing home Pop passed away in. And she is incredibly well cared for. I do think he would approve. But, her memories are leaving her. And maybe at this point, maybe that’s just better. Because to process the loss of Pop is incomprehensible to those of us who have a tight grasp on a lifetime of memories. Maybe that’s one of the blessings I can find here. Because I know when it’s time, they will be together. And I know the time they will spend apart will equate to a small fraction of the life they spent together.

When Pop first was hospitalized I was quite upset, and I apologized to a friend who had lost her mother at a young age. She spoke to me so kindly, I will never forget. “It’s hard for you because you’ve never lived life without him.” So gracious when she could have chosen to go in so many other directions.

Those are the words that give me comfort. Those are the words that tell me it’s ok to grieve. It’s ok to feel like I’ve got a 600 pound boulder on my chest, suffocating me. Those are the words that tell me that 42 years is a long time to have someone in your life and then lose them.

Pop was sharp. He was up on all of us, and all of our lives. He knew specifics, and questioned and followed along. Meghan always said she was in awe of how he defied his calendar age. She, like the rest of us, was enamored. And as he was at the second hospital having a scan, and he educated the lab technician on Cowden’s Syndrome, I had to laugh in spite of myself. He was always learning, and he wanted to make sure others were too.

I walked through their house yesterday, as I have done so many times before, but this time I stopped and looked at the Bible, held together by tape from constant use. I looked at the devotional set to January 12th, the day before he fell, and I smiled. He was, above all things, devoted to God.

The first great grandchildren - Luke and Meghan — **The first great-grandchildren – Luke and Meghan**

His memorial service will take place next Saturday, at the church I grew up in, at the church he helped build and maintain for so many years. I have some time to get my thoughts together before I speak that day. Pray that I may find a way to honor my grandfather, where words just don’t seem significant enough.

Right now we look for the promises of Spring, and new life. We look forward to my sister’s wedding. We press on, not because we are not broken, but because there is no choice.

Our hearts are torn, because there is never ever enough time. That’s what I tried to get at on my Facebook page.

“I am convinced there is never enough time with those who love us so deeply, and those we love beyond measure or words. We are so devastated at the loss of Pop, who was the anchor of our family through every storm, the wind to our sails, and the bridge under our feet. He was so much to all of us, and through our different relationships he somehow made us all feel like we were incredibly important. He lived through deeds, not words. His actions spoke volumes of his character, and were so telling of who he was. He lived his life in service to God and his country, while loving his family immensely. Rest easy and celebrate with the angels Pop. We will miss you every day. Until we meet again…”

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!

Unsung Hero

Published on January 10, 2016 by beatingcowdens5 Comments

There is a hero in this war on Cowden’s Syndrome, this draining task of “beatingcowdens” that we undertake each day. He doesn’t get much attention, and he prefers it that way. Yet, I shudder to think where we would be in this war without our strongest soldier.

He never could have known almost 16 years ago what he was getting himself into. Yet, somehow every day I feel the strength and power of his love.

We stood in front of God, and our family and friends on that chilly April day in 2000, and he promised to love me, “for better or for worse, in sickness and in health…” And he surely has been true to his word.

I am not to sit here and say, “life is perfect,” or “we never disagree.” Because I would be lying, and frankly that would be boring.

But, we work together. We swallow pride when it’s necessary. We say I’m sorry. We forgive.

And, what I can say, is there is not a chance Meghan and I could spend our days “beatingcowdens” without him.

Most often he is not physically with us. He works later than I do. I pick up the afternoon appointments, local or in NYC. I drive to swim practice. I wait there and drive home. I am gone hours and hours every day.

We communicate via text a lot. I type a paragraph, he answers in a word or two.

Yet there is this sense of companionship we share from afar. While he can not be with us at all the appointments, or the practices, or the general running around the days take us on, he is home, with us in mind.

I can not tell you how often we walk into a house full of the smell of a freshly cooked meal. It’s not unusual for me to find a bed full of clean and folded laundry. The dogs are cared for. The candles burn all winter when the house is closed and stale. The floor is clean. Little is left out and around because he knows my compulsions and respects them enough to help me when I’m not home enough to help myself.

None of these tasks are trite. They are what provides me with the momentary glimpses of sanity I so desperately need.

He is patient when we talk about fundraising. When the whole month of January, and part of February will be consumed with “Jeans for Rare Genes 2” because Meghan wanted to DO something. He works, behind the scenes, ever-so-quietly to spread the word, raise awareness and get things started.

He backs up technology and sits through software updates.

He updates, paints, and fixes just about everything. And he really HATES painting.

He is a father above and beyond all things. He loves our girl so completely she still holds his heart in her hands. He is her way to unwind from her tightly wound Mom. He is her chef. He knows how to tease her until she laughs, and how to hold her most precious needs close to his heart.

And when the night rolls around, and the weight of the day presses heavy on my heart, he has the right balance of knowing when to hug me, and when to make me laugh. My worries transcend even Cowden’s Syndrome, and the list of prayers grows deeper every day for those we love who fight more than their share of battles. He knows just what I need. All the time.

Cowden’s Syndrome permeates every day of our lives. It’s reality. It is 5 surgeries for Meghan in a little over a year. It is 70 minutes on the ultrasound table for me this weekend, hoping, praying that I had the most thorough tech ever, and she didn’t actually FIND anything. It is next steps, and strategies, and switching doctors, and making decisions, tough decisions.

The saying goes that if we all tossed our problems into a pile, we’d take our own right back. I would… if and only if I could continue to run through life with my husband and my daughter by my side.

Here’s to the unsung heroes in all of our lives… for the STRENGTH and COURAGE they provide. Give them a call, or a text, or a hug.

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…