World Rare Disease Day – Advocacy and Awareness

Published on February 27, 2015February 27, 2015 by beatingcowdensLeave a comment

World Rare Disease Day is February 28th. Although the actual day is February 29th (the rarest day…)

It is a day of raising awareness across the globe about the 7,000 rare diseases that plague 1 in 10 people.

Our fundraiser has ended for the year. Our checks have been sent. All that’s left for tomorrow is our denim ribbons and our shirts. This day is right up Meghan’s alley. Meghan, whose entire platform has become raising funds and awareness, relishes a day set aside for just that.

Although some days I suspect it would be easier to be an advocate, rather than a patient AND advocate, I ~~suspect~~ am sure that we are more effective advocates BECAUSE we are patients too.

I get that not all diseases, ailments, or medical issues are “RARE.” I also fully understand that that doesn’t make one more important than the other. It’s just that when you have a chronic illness, life is really challenging. When you have a chronic illness BECAUSE of a RARE disease, that really has NO treatment, and definitely NO cure, some days the hill seems insurmountable.

I texted my husband yesterday afternoon to let him know I was going grocery shopping. He told me I was nuts. A week post-op from vascular surgery that put 25 incisions in my right leg, he might have been right. Except he didn’t argue. Timing would not allow him to go.

Grocery shopping in my house is an endeavor. I cross a bridge, and hit not one, but two stores – miles apart before returning home after about a 4 hour round trip. It’s one of the few things easier in the winter – as I don’t have to pack ice!

Why such a journey? Meghan.

Among other things I have learned from my daughter, she has inadvertently schooled her parents on the value of nutrition. Meghan has had food “issues” since birth. Slowly we have played and peeled away and adjusted her diet to be free of Gluten, Casein, and Soy, as well as most dyes and preservatives, and highly acidic foods. She takes digestive enzymes with every meal, and a host of nutritional supplements.

She went from grossly behind in speech/ language to miles ahead. She surpassed extensive sensory issues.

I don’t cook. Ever. But, I shop. And it’s my job to make sure the tools are in place to whip up tasty meals for Meghan, and all of us. My husband never disappoints. He is creative, tasty, almost passionate about Meghan having a culinary experience she will enjoy. He is fantastic.

I shop at Wegmans. And at Whole Foods. Most things Meghan eats are organic, and by default a lot of ours is too. My grocery bill is usually about half a mortgage payment every 3 weeks by the time I feed the dogs too. It is the sole reason we don’t settle all out debt. And it is worth every penny. Nutrition is without a doubt the best investment I have made into the health of my child.

The game changer was the addition of a nutritional cleansing program I have come to trust into her diet. Felix has been using it for almost three years. Meghan and I for about 18 months.

Felix needed to lose weight. But almost as an after effect, after losing 50 pounds, he noticed he felt great. I cautiously introduced the product to Meghan in slow, low doses. Once I was clear she had no reaction, I went all in. For well over a year now she has had a protein shake for breakfast every morning, and since starting school she takes a meal bar for lunch on school days. Over 40 grams of healthy, well-digested protein a day, and this child has done nothing but grow!

Growth spurt? Maybe. But the hair, the skin, the nails, the teeth. She glows of good health. She missed her shake for 2 days a month ago. She had a tough swim and felt awful. Coincidence? Maybe. But she’s not even taking chances any more.

In my house we have a protein shake every morning, and Meghan has some organic, home-made waffles too. We don’t just trust any protein shake. Ours is high in whey protein from “happy cows” in New Zealand. And my girl who can have no dairy at all without severe pain – tolerates these like nothing.

Leaves a mom to wonder- maybe it’s not a “dairy” allergy, as much as a “what’s fed to the cows” allergy?

I could debate processed vs. natural vs. organic all day. What I have here is results.

When you are fighting a rare disease, you need to have the best food in you as possible so you can battle like a champion.

Meghan got out of swim practice tonight. She never gets out of the pool. Her coaches know that. I know that.

“It hurts Mom.”

Dropping stomach, smiling face…

She knows. All of it. Whether I say it or not. She misses nothing the doctors say, and despite my wishes they ALL talk right in front of her.

She has earned the right to sit out. Her coaches know how hard she works. She waited for starts – to get a few in before Sunday’s Silver Championship meet.

On the way to the car she told me she wasn’t sure the knee would hold till May.

I am still waiting for a call back from the orthopedist from last week. Apparently her notes are being typed. He can’t possibly speak to her case without them. He saw 65 patients the day we were there.

The knee is swollen. We will try ice. Hopefully that’s it.

“What if it’s blood?”

“What if it’s not?”

That’s kind of how the conversation went.

Truth is, neither of us know. So we will press on. We have the main plan – the one that lasts till May. And we have the back up. The one where we just yell “plot twist!” and go with whatever happens.

Why did I go grocery shopping last night? For Meghan. For her food. And so she sees me press on. Despite being hurt. Because if I don’t press on through tough times, how can I ask the same of her?

My Mom may not have a “rare disease,” but I learned stubbornness, stamina and work ethic from her.

Rare Disease Day 2015. It’s not so much about “celebrating” as it is about advocacy and awareness.

Because the under diagnosed, the underfunded, and the often ignored – matter. Very much.

We are BEATINGCOWDENS… One day at a time…

The Speed of Life

Published on February 21, 2015February 21, 2015 by beatingcowdens1 Comment

I am always amazed by the speed of life.

I don’t know why at this point I’m not used to it yet. But, as I sit here with my leg elevated recovering from a vein stripping on Thursday, I find it hard to imagine it hasn’t been quite a week since “Jeans for Rare Genes” took place.

Acknowledgements have been sent by Email. Some are waiting for the mail, and others will be delivered to the local businesses that supported us in the next few days. We wanted everyone to know that what we considered a lofty goal of $10,000 to be donated to the PTEN Hamartoma Tumor Syndrome Foundation, and The Global Genes Project has been surpassed. The checks are still being counted, and the final payment from eventbrite is due any moment. But it looks like the total will clear $12,000 before we are through. Not too shabby for the vision of a feisty 11-year-old who has already begun to make tentative plans for what we will do even better “next year.”

And as I’ve digested the success, and have processed the overwhelming pride of a mother, and expressed our gratitude to family and friends near and far, (like the Yokleys from Colorado!) I’ve taken some time to reflect. Standing before a room filled with 150 of our friends and family on a bitter cold February morning left my insides warm and toasty from the love surrounding us.

Life moves quickly. For all of us for different reasons. But, with this syndrome x2 life seems to be literally swallowed by doctors, and tests and surgeries, with every spare moment trying to shove “normal” into the cracks. We miss stuff. A lot. We miss friends, and gatherings and social events, and celebrations, and ordinary get-togethers. We are absent more than we are present. Our friends and extended family are often neglected as immediate family has to occupy any moment that isn’t already full. I don’t actually remember the last time we had friends for pizza, or a casual summer gathering on the deck by the pool.

And I think about the pure innocence and wisdom of Meghan and Connor, as they finally met. Two friends from miles apart, with a life altering syndrome in common. Two bright, funny kids who have seen more than their fair share. Two kids who get compassion, and understanding, and life. Two sets of parents, immediately at ease with each other because we understand. And sometimes that’s all you need. And if you missed the two articulate, wise beyond their years, kids talking to the local news – click here.

I think about Georgia, a world away in Australia, and how she and Meghan have hit it off in a way only girls who share such a bond ever could. I think how wonderful it will be one day to get them together too.

And I think about Ashton, older than Meghan, but a girl on a mission all the same. And I think of all she has to offer the world, as she endures her 14th procedure on a stubborn AV fistula in her brain this week. I think about all the prayers we say, and all the questions Meghan asks. And her Mom. My peer. A Cowden’s patient too. A school teacher turned full-time mother later in life. Because it was meant to be. I think about the hours spent texting and messaging. And how I already feel so comfortable…

And I know that the room was full for them too.

I am grateful beyond measure for the ones who understand. Who don’t give up on us. Who stand with us, beside us, behind us, or just about wherever we need them to be.

I will resolve to try to reach out more. I just don’t know how many more hours I can squeeze out of a week. But I will try. Because the speed of life is astounding.

Sunday some of my college friends were delayed to the fundraiser. They were in the hospital with one, as her father was very ill. Yet, they found the balance. They stayed with her, and then came to us.

Thursday as I came out of I think my 7th vascular procedure I got the texts on my phone that things weren’t good. Her Dad passed away Thursday morning. My heart hurt. It was ironic really, as I had felt my own Dad ever-present as I got checked in and prepped. I got to thinking that out of 5 of us from college that I really stay in touch with, three had already lost a father, and one a mother and a brother. How did we get to this stage? How did life move so fast? And although my own recovery will keep me from making it to her side tomorrow, – I know she will feel the love in my heart.

We have to try to slow things down. Sometimes.

But, I’m not sure when. Or how. Because yesterday I sat in the back seat with my heavily bandaged leg, and we made the trek to Cohen’s Children’s Hospital on Long Island. And we saw an orthopedist about Meghan’s knee. Her vascular surgeon suggested we go – before the next embolization procedure in her knee.

Her MRI shows some damage to the knee structure. “Blood is a terrible irritant, even in small quantities…” And I would imagine that this AVM, probably active since birth, has been slowly eroding the knee. So there is swelling in the bone marrow, and issues with the patella, and all sorts of explanations as to why it keeps hurting. There is no real solution, but a synnovectomy will get him in the knee. He can “clean out” some of the scar tissue, and we can pray that gives relief and doesn’t provoke a “hyper healing” Cowden’s type response. But we have to try. They have to see. It’s time to get a real baseline.

So they will present her case next week. And we will hope that the recommendation is for the vascular surgeon to do his work on the AVM at the same time the orthopedist does his work. Because the recovery from the embolizations is tough. This one promises to be outright nasty. “At least a week on crutches. Minimum 4-6 week recovery. PT to build back the strength in the thigh muscle.” They will fill the knee with saline to get a clear view…

So he asked about her activities, and approved of swimming. Almost relieved when she told him she had given up soccer and dance because they hurt too much. He asked what strokes in swimming, almost tentatively, as if he was hoping for the answer he got.

“Butterfly is my favorite!”

And he looked relieved as he explained to Felix and I that butterfly kick was best on the knees. Meghan chimed in, “because you kick from your hips!”

We were once again impressed by her instincts and her depth of knowledge of her own body. She gravitated to a stroke most hate because it probably hurt her the least. We got the nod to let her continue freestyle and backstroke. But breaststroke is off-limits. Probably forever. Ironically – she never like that one much anyway…

We asked about the timing of the procedure. He thought before he spoke and told us he wanted to hear what his colleagues had to say.

We pressed him for early May. The tail end of the CYO season. The week after her first play, “Hairspray” at school. He told us to take it very easy. And if she doesn’t have another bleed before then, that’s probably a reasonable time frame.

“If… Probably…”

We should be used to all this by now. But, I think you never get used to watching your child get beat up over and over again. That’s why we pushed to try to plan… to try to squeeze in all the normal we can. Because she can’t keep having the fun taken away for the medical. It’s not ok. But, we plan very tentatively.

The speed of life can be overwhelming.

Thankfully we have so many of you along for the ride.

Next Saturday, February 28th is World Rare Disease Day.

Next Sunday, March 1st is Meghan’s first championship swim meet. Silvers. For the 100 butterfly – naturally.

Jeans for Rare Genes – Local News Coverage

Published on February 16, 2015 by beatingcowdens4 Comments

So despite a few tiny errors, we were really touched by this!

Meghan’s Rare Disease Day Video 2015

Published on February 15, 2015February 15, 2015 by beatingcowdens3 Comments

More about a successful event later. For now, news that we’ve raised over $10,000 to share between the Global Genes Project and the PTEN Foundation is plenty while we rest.

PLEASE, spend 7 minutes on Meghan’s video. You won’t be sorry!

Good to Have Goals…

Published on February 12, 2015 by beatingcowdens2 Comments

And every time I sit down to write I get distracted. Forgive my attention issues. There seems to be too much to attend to at once – and I have issues.

I didn’t want to go today. I didn’t. But I had to. Cause it’s time. It’s actually way past time to address the chronic, throbbing, aching in my legs. I saw a doctor last summer when I was near the end of my rope. That was a mess, which ended with me quite sure that a doctor with a staff that obnoxious would never be operating on me.

And, maybe it was for the better. Because I never felt quite right about him anyway. So I pulled myself together and I went to another doctor. A second opinion. This one was worried about an abdominal aneurysm, which thankfully was not the case, but at least he paid some attention. “You need a CT scan,” he said. “I need to make sure nothing vascular is wrong in your abdomen triggering all these veins to go bad. ‘ (I’ve had 7 addressed so far.)

I explained that I should only have CT scans when absolutely necessary. I told him about the radiation risk, which is especially dangerous for those of us with a PTEN mutation when cells can misbehave and develop into tumors of all sorts with ridiculous frequency – especially when provoked. I even explained I was allergic to CT contrast dye.

I was sent for the scan – premedicated for the allergy. Left only to pray that the radiation minded its own business. And the report came, and there were unsettling omissions – like checking the box that my ovaries and uterus (gone now since May 2012) were doing fine, and ignoring the large tumors being carefully watched on my spleen, and the cyst on my kidney. I was bothered. The doctor called to go over the report with me but didn’t have my chart and couldn’t answer my questions. I had the report amended. I tried to find someone else to read the disk. I thought I had struck gold in November when a doctor took an interest in our case, but that – like all other things – was not to be. So I waited a few more months. When January came and I was pretty sure Meghan would not be using the February week for surgery, I called to schedule mine. It was time to get the vein removed – starting with the right one. Triage.

I asked if I should see the doctor again since it had been a few months. I was told no, and given a date for the surgery.

Today was Pre Admission Testing at the Hospital. I think I’d enjoy getting my hand stuck in a door more than that. It is a mess of people who know very little asking the same questions over and over when they don’t know the answer. Instead of Pre testing, perhaps they should call it CYA – a way to prove to everyone you were healthy before they did whatever you needed.

Stop all your over the counter medications today.

Why?

Because some of them thin blood.

Which ones?

I don’t know – but they tell us to have you stop all of them.

My probiotic thins blood?

I just have to tell you to stop them all.

We were moving along until I read the consent form. “Left leg.”

Um… right leg…

At first she questioned me. Then she picked up the phone to question the doctor. The answer came with a new consent form and a request for me to see the doctor. Tomorrow between 9 and 2. Um, no. How about Tuesday? That I can do. Cause I LOVE spending my entire vacation – every time – in a doctor’s office of some type.

And as I was leaving she said, “You forgot your chest X-ray.”

Insert speech about radiation and Cowden’s here. As well as, why would I need a chest X-ray if I am not sick and my lungs are clear?

Right. You can get your x-ray down the hall.

No one asked for a supervisor. No one checked in on anything. This woman undoubtedly knew nothing of my condition, only told me my procedure would be cancelled if I didn’t go. For a hot second I did wonder if that wasn’t a better idea. But, there was a kid to get home to, and a dance she wanted to get to, and so many reasons to run away, and so many reasons it has to get done. But, in the end the pain in the legs drove me down the hall. Where I took another, albeit small, hit of radiation to the spot where my breasts that were removed harboring early stage breast cancer once lived. But, for good measure they put a cape on my abdomen. To protect the uterus and ovaries THAT AREN’T THERE!

I left angry. Sad. Mad. Frustrated. And grateful.

Grateful at least that the bungling was being practiced on me and not Meghan.

Next Thursday the 19th. It’s a minor procedure. But, wow. I think I need some prayers.

And them Friday the 20th it’s off to the orthopedist for Meghan

You see the MRI she had January 22nd – that I battled to have read until February 2nd- showed a decent size residual AVM in the knee. It’s not gone. In reality, its not much smaller than it was. Perhaps a bit less angry, without as intense of a blood flow, but yet still 2 x 1 cm embedded in the meniscus, and aggravating all sorts of other things.

And just for fun this MRI showed evidence of problems in the knee itself. Too much messing around with loose blood flow for too long. There is some deterioration and its time for an orthopedic surgeon, the chief at a Long Island Children’s hospital to take a look.

I didn’t write the week I was ready to string up the vascular surgeon for not getting back to me. I thought it better to say nothing, because I could find NOTHING nice to say that week. Now, I am calmer. And we need him. So I breathe deeply. And I told his PA in my calmest angry voice, that no matter how busy they get, they need not forget there are humans, with families and real pains, and anxieties on the other end of those CD images.

In reality it doesn’t matter, because I suspect there is no good solution. They offered us another embolization. She recovers poorly from them. And truth be told, they aren’t working. And since insanity is defined as doing the same thing over and over expecting a different result – we decided to hold off a bit.

Plus, there is the whole endocrine thing to deal with. Like the TSH level that again doubled in 6 weeks on a higher dose of synthroid. And a kid who is functioning with numbers that would level me. So the doctor said, “I can’t explain it.” And he won’t prescribe an alternative medication. But he acknowledged the idea of insanity, and raising her synthroid again with no plan is definitely insanity. So we talked about T4 (Synthroid) and how she is at the upper dosing for her weight. And then we talked about how its the body’s job to change T4 into T3 so it can be used. So, I asked if it was possible that her blood levels of T4 were there, but her body was flubbing the conversion, which it has done before. If that was the case, that would explain her symptoms. So, we added some T3 to her existing dose of T4. And then she gets to wait 6 weeks again for a chance she may feel a but human.

Thankfully we’ve chosen to surround ourselves with positive distractions.

Thankfully 163 people are coming on Sunday to the Jeans for Rare Genes fundraiser, benefiting the PTEN foundation and the Global Genes Project.

Fortunately, my girl had influenced lots of people, and motivated them to raise awareness and support her favorite charities.

Fortunately, we have places to look to besides ourselves.

As I sit here with the seating chart to my right, and raffle prices to be typed on my left, I am grateful that there is a project. I am humbled by my girl and her determination to be “normal,” and a powerful advocate all at the same time.

It will all work out. It’s got to.

We’ve got things to do…

We are BEATINGCOWDENS!

“The Few, The Proud…”

Published on January 24, 2015January 24, 2015 by beatingcowdens2 Comments

I have a pretty big family. And among that family I boast countless uncles, great uncles, and aunts and cousins too.

But, I have uncles I’ve never met. They are brothers to my father who died just about 14 months ago.

My father had 7 brothers and a sister who I’ve grown up alongside. I have cousins galore, and I love them all.

But there is another part of my Dad’s life that only began to become real to me in the weeks preceding his death. And that is where I began to learn about these other uncles.

And even today, as I sit, on this snowy day, in my office, in Dad’s chair, and with his old champion sweatshirt for warmth, I have plenty of time to reflect.

We spent today home. Meghan and I were beat up by a schedule that is beyond our capability to maintain for extended periods of time. We crashed. Hard. Sometimes it’s easy to ignore this chronic illness we have. Sometimes it’s easy to forget about this genetic mutation lying in wait to wreak havoc on our lives. Sometimes we do such a good job pressing on – getting it all done – that we forget we need to pause.

Cowden’s Syndrome doesn’t cause the fatigue, per se. At least we don’t think so. But, somewhere in between the messed up blood counts, and the appointments, and MRIs and scans and trips to Manhattan, the fatigue finds its way in. Add in surgery on the calendar for me in February. Couple that with the raw determination of an 11-year-old who is intent on conquering the world – and you have focused school work, swim practice, meets, theater practice, and an epic amount of community outreach work as the date closes in on our “JEANS FOR RARE GENES” Fundraiser at the Hilton next month, and suddenly this exhaustion seems easily explained.

https://www.eventbrite.com/e/beating-cowdens-first-annual-jeans-for-rare-genes-fundraiser-tickets-14130024283

Suffice it to say, a January snow on a Saturday morning was truly a heaven-sent gift for us.

And so after the laundry is back under control, and the house is returned to reasonable order, I get time to sit with my blog – a place I have missed in the chaos of the last two weeks.

And while I have so many family and friends that I love so much, the reality is that when I had things on my mind – intense medical things. I would always and without fail use Dad as a sounding board. He would listen for hours with no judgement passed. He would offer advice when he could, and respect when he couldn’t.

For large parts of my youth Dad was absent, almost completely. I didn’t understand, but it was what it was. Sometime after I got engaged in 1999 our relationship began a lot of repair work. We talked more and more as the years past, but there was always a detachment. There was a shield. Even with us.

He settled on Staten Island finally, about 5 years before he passed away. He lived with his sister, my aunt, and they were good company for each other. He reached out. He made an effort. Slowly he started to let me in.

I was a psychology and education major in college. I remember the lessons on PTSD, or Post Traumatic Stress Disorder. Immediately so many things made sense, and I saw my father in those lessons. But the real moment came when he said it himself during one of our long conversations. “I have something called PTSD…” and there was an opening to a world I had never been allowed into before.

There was a young man – still in his late teens. A young man who became a Marine. One who enlisted with a few friends during a war that I knew precious little about until I began my own research.

My grandfathers, all three of them had fought in World War II and tales of their service were common. Never in a bragging way, but matter of fact lessons and experiences and stories, told and shared my whole life.

I studied World War II in school. I learned, probably not enough, but enough to carry on an intelligent conversation. But, I as a teacher of young children, had precious little knowledge of the horrors that were the Vietnam War.

My Dad who left for that war never came back. Sure, he survived treacherous battles in the jungle, but he never came back as the boy who grew up on the local streets with his friends and siblings. He returned a changed man.

My Dad gave his entire life for his country, even though his service record bills his active service as about 3 years (of that 13 months were in the jungles of Vietnam,) He came back traumatized, confused, and unsettled. One of the talks we had after the acknowledgement of the PTSD included, “I spent the first 40 years after I came back thinking everyone else was crazy, and the last 5 thinking maybe it was me.”

Years of wandering allowed him to make “friends” with lots of people in lots of places. But in reality Dad was a “man’s man.” It was easy for people to trust him and share with him. Many people who viewed him as friends knew very little about my Dad the man.

As he got sick Dad authorized the release of his medical and service record to me. He knew I would pore over every detail and search and question, and hopefully find answers no one else could. I searched and I read and I researched and I asked, but in the end the course of events was set to be what it was. During that process though I read, first hand accounts from my father about things I had never known.

I also got to spend more time in his apartment. And there were three pictures there. And Dad would talk briefly about those pictures. And I would wonder about the other men behind those eyes. And how their lives had turned out.

After we buried Dad in December of 2013 I continued my quest through our local Congressman to get his service records reviewed. Still in a deep quest for closure I uncovered some photo CDs in Dad’s things. Most were of photos taken by him. One was marked Vietnam. On it were photos not taken by Dad, of Marines who served with my him. There were pictures of men, pictures of war, and documents that I had never seen.

Not long after that, a conversation with Holly, a woman who we all love, who shared a long relationship with Dad, produced a contact list for Dad’s Marines. The names matched the names on the photos and I set about writing letters to each of them.

I sent out letters to each of them, looking for specific information. I knew my hope was a longshot. I was looking for recall of events that had taken place over 45 years prior. I sent out 18 letters. I expected I’d be lucky if I heard from one of them. Why would they answer me?

And that is where I learned of the uncles I never met.

Aside from the 2 Marines who had predeceased my Dad I had responses from all of them. Every single one of them reached out to me, to offer condolences, to tell a story, and to offer support. I laughed and cried and healed more during that month than I could have imagined possible. These men, together for a relatively short window of their lives, were deeply bonded as brothers forever. These were my “other” uncles.

And I connected with the men from the photos, “Merck and Zepe” as Dad called them. To listen to their tales of stories I had never heard, was a gift I could not have imagined.

But there is one. One “Uncle” who has been there for me this past year in ways far beyond what I could have ever imagined. “Uncle Alan” had listened to my tears, taught me, comforted me, and supported my endeavors. His compassion knows no bounds. He has prayed for my family, asked about my daughter, given me peace on Father’s Day, and has done more for me than I imagine he will ever know.

Last week I was at the height of exhausted and in my mail was a package from “Uncle Alan.” In it was the book “90 Minutes in Heaven” as well as a bumper sticker, a T-shirt, and a “US Marine AM-GRUNTS” hat. I cried. Tears of gratitude. For God’s introduction to family I never knew I had. I cried tears of healing, as I come each day to understand more about my father through these men who call him “brother.”

Dad and I spoke sometimes, towards the end, about the “whys.” He wondered why he got to come back and live his life, when his dear friend Tommy was KIA. He wondered about mine and Meghan’s Cowden’s Syndrome. He wondered if there could be a connection to his ruthless exposure to Agent Orange. If somehow that genetic mutation could have arrived in me through him. He wondered about the possible connection to the cancer that took his life. We wondered together lots of things we will never know the answer to.

But there are things I don’t wonder.

Dad’s life had purpose. It had meaning. It left impact on everyone he ever loved. Out of his suffering came great strength, and a deep faith in a good and perfect God. I don’t wonder for a minute where Dad is now. I am sure he is flying free in Heaven.

I don’t wonder “how” we got Cowden’s Syndrome. Cause we have it. I don’t even wonder “why” we have it. Because we do.

And who we are develops through our experiences in life. And while there are some I would have preferred for us not to endure, I don’t wish to change them. We are learning to be the best people we can be.

And along the way, there are people looking out for us. “Uncles” we never knew.

Alan signs his letters “S/F” for the Marine Corps motto “Semper Fi” – “Always Faithful”

A permanent addition to my ankle... — A permanent addition to my ankle…

I have not known truer words.

I plan to get to visit “Uncle Alan” in June. We have lots more to talk about.

Blessing abound if we keep our eyes open.

Winning

Published on January 10, 2015 by beatingcowdens5 Comments

Winning. It feels good. And it’s not about being first. And it’s not always about being “the best.” Sometimes winning can be as simple as not losing!

Every day we wake up and prepare for battle. The “sword” is sharpened before we get out of bed. We can not take a step unprotected, or unguarded. And, even being on guard against Cowden’s Syndrome all the time is often not enough. So often things just happen…

Sometimes we get ~~a little~~ A LOT frustrated. Often we feel beat up by this beast that we battle. “It” gets quite a few swipes in. But, we have, and we WILL always remain on top. That’s why we are BEATINGCOWDENS.

So tonight, as we drove home from a swim meet in the Bronx, we chatted – my girl and I.

And it was pleasant, easy conversation.

So often as the weekend comes I reflect on the week that was in awe that THAT much “stuff” fit into the week.

This was no exception.

Last month she was sidelined from the swim meet. Recovering from knee surgery just three weeks prior, she was in no condition to compete.

This month she was all in, and we both loved it. It is such a treat to watch her when she gives it everything she’s got. It’s an even bigger treat when she takes 4 seconds off the 100 free and 1.5 seconds off the 50 fly.

Winning.

The conversation on my end for the long afternoon of waiting was pleasant and easy. A bunch of overheated parents held captive together, all sharing a common hope that their children swim their best. Meghan talked comfortably with her peers, easily passing the time between events.

There are goals, qualifying times in her brain, but today she was pleased by her success and so was I. She may reach these times this season. She may reach them next season. But, we agreed that it doesn’t matter as much as her continued progress. And I was able to tell her how proud I am that she persists. Through 5 knee surgeries, through thyroid numbers that would level the strongest among us, through chronic pain – quitting is not in her vocabulary. This is the focus she will take with her for the rest of her days. This is the attitude, this “I CAN do it,” is what I pray will follow her all of her days, through all aspects of her life.

Winning.

This week she got a part she wanted in the play she’s been working on in after school drama. She was patient. Persistent. She calls drama “fun,” and the students, “funny.” She never acted before. Except for every day when she “acts” like a pain-free “regular” 11-year-old. She’s thrilled.

Winning.

The marking period ends this week I think. Her averages on the “Pupil Path” app impress me. And I was a pretty good student. I don’t check her homework, or really bother her about anything. “I’ve got it, Mom.” And the numbers tell the same story. All those years of working together on good study habits paid off.

Winning.

The fund-raiser, “Jeans for Rare Genes,” is taking off. And we haven’t seen anything yet. People are reaching out. They are coming to the event, donating raffle baskets, making monetary donations, and offering their time and energy. Local businesses have been extraordinarily supportive. Meghan had seen the best in so many people. She knows her life matters. Her story matters. Her drive is being rewarded. Her big heart is teaching her to dream bigger, and help more people.

Winning.

We lost our Allie Girl, our 11-year-old rescue in December. She was with us 7 and a half great years. We miss her. All of us, especially her Dad and her “furry” sister Lucky. Felix approached me about rescuing another dog. I thought it might be too soon. He reminded me that Allie had a good life because we rescued her. He felt strongly we could be that same kind of help to another dog, and by doing so we would honor Allie, and help Lucky’s loneliness. I told him I was open – but no puppies. I wanted to know we were saving a dog. I wanted a dog no one else wanted. That made sense to me.

Sweet April showed up on a web site Felix was following. A three-year-old lab mix with an uncertain history, rescued from a high kill shelter in Florida. She was being fostered in Pennsylvania. “It’s all in the eyes,” Felix said.

We put in an inquiry, and left an application with references.

The Email said she was going to be in Brooklyn Tuesday night. Could we come and see her? And if everything went well and she and Lucky got along, would we consider taking her?

TUESDAY? Who takes a new dog on a Tuesday?

Apparently we do.

April arrived at our home around 7:30 PM Tuesday, after a brief visit to Petsmart for a new collar, and to meet GiGi and Pop!

We had to get her in, fed, settled and all of us off to bed within a few brief hours.

She found her spot. And Meghan has slept better this week than she has in years.

WINNING!

Lucky has developed arthritis in her knee, and a visit to the vet Weds. with both dogs in tow was very emotional for me. April checked out as healthy and strong. And my Lucky had her very first blood test. I am happy to report she is healthy as can be. I left with a script for anti-inflammatory medicine for her. She’s going to need it to keep up with her little sister.

And somewhere I can imagine Allie smiling in Heaven, as Lucky is the recipient of the playful nips she used to give so frequently.

Allie always watched over her human sister.

The sight of two tails wagging again was good for us all.

WINNING!

Twelve Surgeries in 11 Years: Living With Cowden’s Syndrome

Published on January 8, 2015January 8, 2015 by beatingcowdensLeave a comment

http://blog.silive.com/gracelyns_chronicles/2015/01/twelve_surgeries_in_11_years_l.html

The content of the article is pasted below. Please click on the link above to read the story in full effect. The photos were added below as reflection by me!

This article appeared in our local paper. Dr. Santos did an outstanding job capturing Meghan’s essence.

By Dr. Gracelyn Santos | gsantos@siadvance.com
Email the author | Follow on Twitter
on January 08, 2015 at 11:00 AM, updated January 08, 2015 at 1:52 PM

STATEN ISLAND, N.Y. — Meghan Ortega, a Westerleigh sixth-grader, is one of my favorite dental patients and one of my twin daughters’ dearest friends.

A graduate of PS 29, Meghan is a Principal’s Honor Roll student at Markham Intermediate School in Graniteville. She loves drama, is an avid reader, loves to swim and has a broad smile and sunny disposition.

Meghan also happens to be one of the bravest kids I know. In her 11 years, she has had 12 surgeries. Twelve. She hurts every day, but has learned pain is part of her life.

Meghan has a rare genetic disorder called Cowden’s syndrome.

Cowden’s falls under the umbrella term of PTEN hamartoma tumor syndrome. The PTEN gene, which suppresses tumor growth, malfunctions, resulting in benign and malignant tumors developing all over the body.

Approximately 30 percent of children with genetic disorders die before their fifth birthday, so Meghan is fighting for her life with preventive screenings and surgery.

As her dentist, I saw firsthand one of the oral manifestations of Cowden’s syndrome — a suspicious gingival (gum) growth — for which I referred her to an oral surgeon for biopsy and excision.

Not once did I ever hear Meghan complain.

The PTEN gene is passed on in an autosomal dominant pattern and is rare, affecting one in 200,000 people. The cancer risks are high; the lifetime breast cancer risk seems to exceed the BRCA risk, and there are significant risks for thyroid, uterine, kidney, skin, colon, and countless other malignancies.

To keep a close eye on the disease and its progression, Meghan sees doctors regularly for preventive screenings — including biopsies.

But she is just happy that she finally has a diagnosis.

When Meghan was a baby, her parents, Lori and Felix knew something was “not right.” She was chronically ill. She suffered with gastrointestinal distress well past her first birthday, and her diet had to be free of gluten, dairy, soy, dyes and preservatives. Her gallbladder was removed when she was 3 years old.

Meghan also had a lipoma taken from her back and her tonsils and adenoids removed. She had to have a complete thyroidectomy because of 19 rapidly growing abnormal nodules on her thyroid gland, three of which were deemed pre-cancerous.

The most notable of the surgical procedures for Meghan’s abnormal growths were the five she had to undergo as a result of an AVM (arteriovenous malformation) in her right knee. While AVMs are not exclusive to Cowden’s syndrome, there is an increased incidence in the population.

Recently she was hospitalized for a week because the medication that helped control the AVM in her knee caused damage to her GI tract and her esophagus.
She was taken off that medication and is healing, but the pain has returned to her knee.

It is one of the constant smaller battles she fights with side effects of the multiple medications she must take.

Meghan is often at a doctor’s office. Barely a week goes by without at least one appointment. She waits like a champion for hours on end, because she is conditioned from years of practice.

Lori, her mom, firmly believes Meghan saved her life — because of Meghan’s diagnosis, she also was tested and confirmed positive for the PTEN gene mutation. She had surgery as well, a prophylactic double mastectomy.

In a world where we often get wrapped up in trivial annoyances, Meghan is an inspiration, a reminder that in the great scheme of things, people all around us are fighting real battles.

Although Meghan has met some great friends along the way, it is often a struggle for her to relate socially to most children, who likely have been to the doctor only once a year their whole lives.

Meghan’s experience of living with Cowden’s, combined with the food issues, can be isolating for her, realizing early on that talking too much about pain to her peers can also increase the isolation: It is hard for them to relate.

So she threw herself fully into support of other children and adults who have rare diseases, like the one she and her mom share.

She worked with one charity, the Global Genes Project (www.globalgenes.org) soon after she was diagnosed.

Meghan also sought a symbol for those with multiple medical issues and what developed was beautiful: A denim ribbon, a nod to the slogan, “Hope, it’s in our Genes.”

The first year after her diagnosis, Meghan simply wanted to hand out Denim Ribbons on World Rare Disease Day. The second year, she worked with the Student Council to organize a successful fundraiser at school.

Now, Meghan has struck up a friendship with Borough President James Oddo, who has invited her to Borough Hall several times to talk about ways she can make a difference. He has become her mentor, helping her find her voice.

This year, Meghan has organized a fundraiser to be held Sunday, Feb. 15, at Nicotra’s Hilton Garden Inn in Bloomfield, to raise awareness and money for rare diseases. To help others like her, many worse off.

Her goal is to educate everyone about rare diseases in general. She is acutely aware that everyone struggles, but wishes there would be less judgment and more support. One of her pet peeves is people who say, “You don’t look sick.”

For more information about Meghan’s journey and to support her fundraiser, please visit her blog, http://www.beatingcowdens.com Tickets can be purchased at http://www.eventbrite.com.

Meghan 2014 Nominee for Global Genes Project Teen Advocacy Award

2014 Kid of Achievement - Staten Island Children's Museum — 2014 Kid of Achievement – Staten Island Children’s Museum

Keeping focus

Published on January 4, 2015January 4, 2015 by beatingcowdens1 Comment

It’s 2015 and the first surgery of the year has been scheduled. February 18th. This year it’s my turn to have surgery over the February break. It seems each year one of us takes a turn.

So while my friends are returning to school tomorrow, counting the days to the February week, I am not quite as excited.

It’s only a vein. A large, painful, varicose vein to be stripped out of my right leg. Large enough that it requires an operating room. But it’s far from the first. My veins are crap. This is almost certainly connected to the PTEN mutation that caused our Cowden’s Syndrome. My veins seem to be a generation less severe than my girl’s AVM.

I had the first one stripped in my early 20s. Before I knew of Cowden’s. Before there was Meghan. The next 2 were done in the years that led into my early 30s. Then 4 years ago I had 5 done through an in office procedure at NYU. There they were just “closed” and not removed.

Maybe they are sped along by a life that requires so many hours on my feet. Maybe genetics have sealed their fate already. Not a single doctor I have seen has ever claimed to know for sure. And that’s better. I hate when they guess.

I sometimes wonder when I will run out. I wonder how many they can close off or take out before…

They just keep telling me the ones they are taking out are already broken. Backflowing. Not doing their job anyway.

Doesn’t keep me from wondering why they keep breaking. At 41 I do wonder how this bodes for the future. But, it’s one of the things I have consciously chosen not to research too much. Because I can’t control it.

I have tried compression stockings, and I wear them when the pain and pulsing gets really bad. But, I hate them. And a religious stint of wearing them a few years back saved me nothing, and caused me to be very angry. All the time.

They are not nearly this glamorous. Trust me.

So for now, it’s the last thing I feel before I close my eyes at night. It is the first thing I feel when I open them in the morning. It is the reason I often keep moving, because the resting makes me more aware of them.

The pain, the pulsing, the aching is maddening. But it certainly reminds you you’re alive. And, as cliché as it sounds – it reminds you that it could be worse. Much worse.

Our vascular issues in this house, (although Meghan’s still terrify me,) have been confined to lower extremities. And I flash to our friends in Australia whose 20-year-old fights vascular malformations in her brain. Over and over and over, with a resilience in mother and daughter I marvel at.

Perspective. It’s all about perspective.

Meghan has 2 appointments coming. One is a follow-up for her vascular surgery in November. The other is with her endocrinologist to try to tease out the continuously unbalanced thyroid hormone levels. I have three in February – before the surgery.

It’ll be a busy winter.

So glad we chose to distract ourselves from ourselves with the “Jeans for Rare Genes” fundraiser. Always good to keep it focused somewhere else.

https://www.eventbrite.com/e/beating-cowdens-first-annual-jeans-for-rare-genes-fundraiser-tickets-14130024283

Good lessons that I teach my daughter. Good lessons I will remind myself repeatedly when I am tempted to rant about another stint in the operating room.

Better me than my girl. And it could always be worse.

Maybe we’ll have a different countdown to the February break. Maybe we will count down until February 15th – the date we hope to raise enough money to make a difference in some lives. The rest of the week… we’ll skip that for now.

Reflections

Published on December 29, 2014 by beatingcowdens4 Comments

Reflections.

One of those multiple meaning words that seems to get tossed around a lot this time of year.

Reflections for me are necessary as a part of who I am.

As the new year approaches, I find that I hear the same sentiment over and over. “2015 Will be a (great, better, good, fabulous…) year.” Often I hear people say, they are “due,” and it’s their “time,” or their “turn.”

And that’s not to say I don’t know countless people who have suffered gross misfortune. And it’s certainly not to say I don’t wish them all a break. It’s just I’m not sure what difference a minute makes, really.

I am reminded of the conversation I have with my youngest students several times a week. December to January is a matter of a minute. One to the next, and the calendar changes.

I guess it’s none of my business this notion that the new year will make things better or different. But, I just don’t really buy it.

I like the idea that the year starts over again. I have always liked that about teaching – the ability to start fresh every September. But to me that is a more authentic change than New Year’s Day. At least in school it IS a new year, new schedule, new students…

Maybe it’s the fact that the last few years feel all drawn together in my mind. And they haven’t been all bad. Just quick. Fast-paced. And maybe a little tiring.

Truth be told, though, there is no real indication that 2015 will be any different from 2014, or 2013, or one of the rockiest of them -2012. The change of month and year will not alter many of the things currently set in place. There is Cowden’s Syndrome to fight. There are relatives and friends struggling with health issues. There are things that just are.

But, what will remain the case in 2015, is currently the case right this moment. I will wake each morning, put my feet on the floor and find something good to focus on. I will shake off the pain. I will be a role model for my girl. I will eat the most nutritious food I can find, and share my passion with whomever will listen.

I will question doctors. I will question everything and get the best care I can for my girl. I will adore my husband, and love him the way he loves me. I will follow the lead of my daughter and strive actively to help as many people as we can. I will work on staying calm, and not sweating the small stuff. Because that is how I get through every day. All year. And some days when we are very tired, we will just be. And that’s ok too.

Although, I’m not beyond reflecting on the last 12 months, in the year we often dubbed “The year that everything broke…”

I spent January sorting through my father’s apartment after his death in December 2013. It was a whirlwind that ended December 4, 2013, when he passed from a battle with pancreatic cancer, and the carry over was evident in my dining room for the early part of 2014. I made phone calls, wrote letters, and did what I could to address inquiries and settle affairs. And still a year later there are pictures to be sorted and water marked… soon.

In February Meghan’s thyroid finally gave out. And was taken out. In the middle of a huge snowstorm that led us into the Ronald McDonald House in Manhattan the night before. And we spent a few weeks with the largest part of the recovery, which included a medication reaction and another overnight hospital stay. Almost a year later her Synthroid dose fluctuates every 6 weeks and doesn’t seem close to being regulated.

There was the identity theft that targeted me in March and got right into my bank account. There were headaches, and police reports to follow, but they had nothing on the fraudulent tax return we learned had been filed in April. Hours and hours, and months of waiting. We have it all fixed. Almost.

The spring was a constant juggle of pain. An indicator that the thyroid removal had altered the balance in the body as far as I am concerned. That theory was further confirmed when Meghan spent a week in the hospital in May with severe gastritis. It was the culmination of a spring where things just seemed to be getting worse. We met a gem of a gastroenterologist who was able to settle a few things, but after an endoscopy we left with news of severe esophageal damage. Her medication was blamed. The same one that had been helping us manage her constant pain, and had been diffusing the activity of the AVM in the knee. We also left with a diet exponentially more restrictive than the one she was already on. Ironic maybe that the fryer we had, had broken the night before we went to the hospital. We certainly didn’t need THAT anymore.

And then we said goodbye to the Saturn. The 1996 Saturn that was the “extra” car that was so handy to have, was towed away in the spring after a few failed attempts to fix what surely was the start of a failing transmission. We are a one car family for now.

Even in the “happiest place on earth” Meghan’s stomach “broke” again. Scaring the heart out of us, causing a visit from a Disney doctor for which I am still trying to coordinate payment from the trip insurance company. Fortunately it didn’t derail our trip. But, it reminded us that everywhere we need to have our guard up. Everywhere.

And our Allie Girl in July had 5 teeth pulled in quite the procedure of a surgery. It didn’t take her long to start eating again, but my nerves, and my visa were permanently affected.

There was the pool that kept having a “little” leak. Until it was consistent enough that we left a hose in the pool. Until I finally bit the bullet and called for a leak assessment. And just like that the pool was being emptied for its liner to be replaced. At least it will be ready for us in the summer.

And the bay window. The one that developed some dry rot after a call to the window company 2 years ago led to a ton of red tape. By the time they came to see if the damage was covered it was too late. And just like that we were replacing the bay window we had put in 14 years ago. And once you cut a hole into the wall… It was like a bad version of the book “If You Give a Moose a Muffin…” Almost the whole house got painted as Meghan moved her room upstairs, and we cleaned and sorted and purged…

The very end of August my Grandma, Dad’s mom, had a stroke. And we hoped and hoped that it would get better. We visited, and chatted, and spent as much time with her as we could. And she went from the hospital to rehab, to the nursing home, and declined every step of the way. She remained pleasant and agreeable until she passed away October 22nd – less than a year after we lost my Dad.

The first "great grandchild" — The first “great-grandchild”

Early in September Meghan fell and there was a stress fracture in her foot just in time to start 6th grade and a brand new school.

And in the fall the washing machine gave up, and a new one found its way into the basement.

In November Uncle Jerry, my Dad Ken’s brother passed away. Just shy of 60, he was taken way too soon by cruel cancer. GGPa, his Dad, was taken from us in June of 2012. Too close. Too much. Too sad. Just wrong.

And as I traveled home from the funeral in Vermont I went to pick Meghan up at swim practice. And as she walked out of the locker room she collapsed. The pain in her knee was too much. Emergency surgery the next day at Lenox Hill revealed a pea size hole in the artery of her right leg at the AVM. And what we saw coming 6 months prior when she stopped the medication because of the gastritis had happened. The AVM was back in a foul mood. 50ccs of blood drained from her knee joint. After 5 procedures in there, at only 11 the knee will never be what it should be.

This is about 50ccs of water - roughly the same amount of blood that filled her knee joint. — This is about 50ccs of water – roughly the same amount of blood that filled her knee joint.

We spent Thanksgiving at home, just the 5 of us. Felix, Meghan and I, and Allie and Lucky. We decorated for Christmas, while Felix made a fantastic dinner. And it was ok to be housebound. Together.

There had been too many funerals this year. Too much loss. In my immediate and extended families, and the families of friends. We needed some time to enjoy our innermost circle of 5.

By that time memories of my Dad’s passing a year earlier were taunting me. Maybe I looked the other way at the earliest signs that Allie didn’t feel right. Maybe it wouldn’t have mattered. But, we got home from celebrating cousin Kim’s wedding, and it was evident that my Mom was even worried about Allie. A walk the next morning with Felix where she gave up mid way prompted a vet visit that Sunday. After x-rays of her belly that were inconclusive, and some medication for pancreatitis that we were pretty sure she didn’t have, we took her home. We diligently gave her medication and prepared chicken and rice as directed, but by Tuesday she wasn’t eating. And THAT was NOT like her. So I took her back on Wednesday hoping for a new medicine and grossly unprepared for the vet to tell me it was time for her to be put down. So in between tears I gathered my family and waited. I held Allie for hours while I waited for them to arrive so we could all say goodbye together. December 10th we lost a good friend, and a key player in our family of “5.”

I ended the year breaking the vacuum the day before Christmas Eve.

And as I sat to reflect I remembered that still in the chaos that sometimes ensued, never were we to be defined by Cowden’s Syndrome. We are to be defined by other things. The ability to; persevere, love, lose, cry, laugh, sing, smile, appreciate, endure.

Because you see Cowden’s Syndrome is with us every day. Of every year. For the rest of our lives. But it can not BE our lives.

However, it has taught us some good lessons. Life changes quickly. If you aren’t paying attention you might miss it. Don’t be complacent. Ever. And be as prepared as you can while never making firm plans. Cause life is not designed for “firm” plans, but better suited for goals.

And don’t wait to make those goals. Or to carry them out. You don’t need a new calendar, or a special occasion. Just do it.

Treat each day as a gift. Be the best YOU that YOU can be, all the time.

Be honest. Don’t be afraid to love deeply. The pain of loss is horrendous, but without that ability to love deeply there would be a good deal of much needed compassion missing from a world that is already struggling.

The best thing about reflections, is they encourage you to continue onward…

We are still now and forever Beatingcowdens…