No, she’s not going yet. And actually even the thought that she will truly be college bound only 6 summers from now makes me a bit queasy. But, there will be time to deal with that later, and milestones to cross along the way.
For tonight, we celebrate what we hope will be the first of many college scholarships. While the amount is small, and the $1,000 will likely not even cover the cost of her first semester’s books, the honor is great, and the concept that these things can start now is mind-blowing.
The link below only connects you to the search page, where you would have to put in her name and state to search for “Regional Winners,” but the picture shows a snapshot of the reasons for selection.
The award is held by Kohl’s and paid to her “undergraduate institution” upon enrollment. It sounds so formal. So fancy. So far away.
But, it’s not. And time will fly. I know this.
So I run as much as I can, getting to every doctor, and as many swim practices, and drama sessions as I can. She maintains her really high average with minimal input from home. And I bring the computer to swim practice. So I can write. And stay sane. And cherish the little things, which in fact are DEFINITELY the BIG GIANT things.
Tonight it’s not about being sick. It’s about being well enough to overcome. It’s about determination to persevere. It’s about a desire to make life better for others.
She is talking actively about how she will make next year’s fund raiser better. Her goals. She has some other things in the works too. The brain is always going.
She is steering this ship. I am her happy co-pilot. Along for the ride of my life.
Together we are BEATINGCOWDENS, and we WILL NOT be stopped.
I’ve wanted to talk to you ever since you rudely introduced yourself to my family in 2011. Actually it wasn’t even a proper introduction. It was more like, “I’m here. I’m staying. What are you going to do about it?” In hindsight, you’ve probably been with me from the very beginning, an explanation for the years spent in surgery for random growths all over my body. And you know what? I could have kept quiet about things. I could have plodded along removing lumps and bumps as they surfaced, praying they remained benign. But, you crossed a line. You messed with my girl.
I went all those years not knowing. I never understood why I seemed to spend an inordinate amount of time in doctor’s offices, generally being made to feel like an idiot for things they could not explain and did not understand. But, I’m a mother now, and mothers get over those things because nothing is more important to them than the health of their children.
So when my then 8 year-old was introduced to you at an incredibly tender age, the mother beast in me came alive. Before I could even contend with your existence I had to run damage control and get out in front of the storms you were plotting and planning. I had to read and research and learn, because with an occurrence rate of 1 in 200,000, I typically knew more than any doctor we met. And with our PTEN (tumor suppressor) gene officially listed as broken, the words cancer, cancer risk, and potential malignancy became part of our every day vocabulary.
That entire first year I was sure we had lost our very existence to the routine screenings you require. A doctor for every body part, and a pediatric and an adult version of each no less. Scheduling was a nightmare. It’s a wonder I kept my job and my sanity. And my girl, almost like a deer in headlights, tired of being poked and prodded and treated like a pincushion was getting plenty annoyed. She’d already had 8 surgeries, and a ridiculous number of biopsies and MRIs before we met you. Now there was this road ahead that was just flat out exhausting. There were worries heaped upon worries. And it got old real fast.
Our friends have tried to hang with us. And they are an incredible lot. But, it gets tiresome to hear that things just keep on coming, and that nothing here is “all better.” Understandably, many of them have had to pull back. Their own lives are busy. Things continue, and just because you want to have your way with us, the world can’t stop spinning. We miss socializing. We miss casual get-togethers. It’s hard enough to even visit properly with our family in between appointments, and hospital stays and the few activities you haven’t taken from my daughter.
Let’s talk about that for a minute. Let’s talk about the pain. The unforgiving knee pain that affects every aspect of her life. Let’s talk about having to quit soccer in 1st grade, and dance 2 years later. Let’s talk about her desire to run track that can never ever be. Let’s talk about my girl, born with the heart of an athlete who keeps getting the rules changed on her.
The knee! The right knee. The one that has hurt since birth. The one where the AVM (arteriovenous malformation) was supposed to be resolved in or or two embolizations. Until they learned of you. You would be the reason it continues to plague her, change the course of her life, and cause her undue agony on a daily basis. You would be the reason the 5th attempt to fix it in November after 50ccs of blood leaked into her knee joint essentially failed. You would be the reason we are awaiting a 6th surgery on the knee. This one with the orthopedist and the interventional cardiologist at the same time. One will assess the damage from all this blood, and the other will have another go at this AVM.
The AVM. The likely reason the feet are now a size and a half apart. Continuing to make life easy for my girl aren’t you?
And while we’re at it, let’s talk about the thyroid. The 19 nodules you allowed to grow there, until “precancerous” prompted complete excision. We beat you. We got it out in time. But, it was real close, and I didn’t like it one bit. And as payback, 13 months later, the synthetic hormones still leave her chronically wiped out, and running on raw nerve. The endocrinologist is confused. He offers no explanation as to why it’s not ok. They offer me no answers about the effects on the body. Because they don’t know. You’ve kept them confused, and it’s wearing on my nerves.
But, you know what? You won’t win. Not here. Not in this house. Not with my daughter and I fighting you every step of the way. We like to call ourselves “Beatingcowdens,” because we are. And we will continue to.
See, you messed with the wrong women here.
After we dusted ourselves off and learned to schedule the screenings and tests and surgeries on OUR time, we started to breathe a little. There are so many. But, they don’t OWN us. Plus, I went on ahead of you and got some things removed. That “prophylactic mastectomy” that turned into “thank goodness she got that DCIS we didn’t know was there out in time…” well, that was a HUGE win. And the hysterectomy before the uterine polyp could change its mind from benign to malignant. Winning.
My daughter has decided to become an advocate for rare diseases. Her work has begun small, out of a need to educate the people who judged her for sometimes needing a wheelchair to contend with that knee. It started with some business cards that explain what Cowden’s Syndrome is. It blossomed into assemblies at school, newspaper articles, and a friendship with our Borough President.
She took to the Global Genes Project, and their logo, “Hope, It’s in our genes.” She had a friend make a denim ribbon necklace. And “identity piece” for her. She learned about all the rare diseases she could, and how so many of the babies who can’t speak for themselves need our help.
She embraced the creation of the PTEN Hamartoma Tumor Syndrome foundation in 2013. She carries hope that one day their work will affect change directly in our lives.
She met up with friends through my online connections. She corresponds with Colorado and Australia.
In February, with only guidance from me, she organized a “Jeans for Rare Genes” fundraising breakfast that generated $12,200 for her two favorite charities. Over 150 people attended that event. Community support was overwhelming.
Oh, and the heart of an athlete you tried to take from her… you lost there too. She is a swimmer now. And this year she qualified for Silver Championships in the 100 butterfly for her age group.
So, despite what you may have tried to do to our lives, you are losing terribly. You are something we will have to deal with for the rest of our lives, but you will NEVER own us. You may try to be pushy. You may be downright rude, hurtful and insensitive at times. But, that’s OK. We’ve handled worse than you, and we’ve come out just fine.
As a matter of fact, maybe I should say thank you. Thank you for lighting the fire in our bellies. Thank you for helping us find our self-confidence. Thank you for giving us the fight that forces us to never ever give up. Thank you for teaching us that we can make a difference. Thank you for empowering my beautiful young lady with a forceful strength that WILL change the world.
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.
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!
The content of the article is pasted below. Please click on the linkabove 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.
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.”
When I started this blog just about two and a half years ago, it was to serve as therapy for me. It took a while before I even started linking my posts to facebook. I didn’t pay much attention to the stats of the blog, except to occasionally marvel at the random countries my blog was being read.
This week while searching the year that was, I happened to notice that this little blog has cleared over 100,000 views!
Stunned. Amazed. Humbled. Grateful.
I think of the people who have reached out to me through this blog. People looking for an ear, or a point in the right direction. I think about the newly diagnosed who have come my way a few times, and have been relieved to learn everything can be ok with Cowden’s Syndrome.
I think of the blogs I follow, of people with and without Cowden’s, and all I have learned. Most especially that WE are not alone.
I think that spirit of companionship, whether it comes from a country across the world, or a city nearby is a factor in what motivates me to keep writing.
But, mostly blogging is my therapy. My free therapist. The computer is my listener. Where I can air my thoughts and ideas, and worries and hopes and dreams. And then I can edit myself into the positive mindset necessary to press on. This blog keeps me away from the negativity and the despair that can sometimes accompany this life.
And yesterday as I recapped “The year that everything broke…” I was reminded of all the blessings that came our way in 2014. And despite the lows, there always seemed to be someone, somewhere, with some random act of kindness, who was able to help us turn things around. For all of these people – and they know who they are – accept my gratitude, OUR gratitude. For really this is our story.
Although I am not much a fan of “New Year’s Resolutions,” or proclaiming that things will be drastically different in the minute it takes to pass from 11:59 PM on December 31st to January 1 at 12:00 AM… I wanted to highlight some of the positive things that have gone on for us in 2014.
We began last year, much as we will begin this year, preparing for Rare Disease Day. In February there was an assembly at my school. We gave out ribbons to all the students. Meghan and another family, two dear boys who had been affected by a different rare disease spoke. They opened some eyes that day.
And in the midst of that assembly Meghan met Borough President Oddo. The two struck up conversation like old friends. Meghan immediately respected and admired him, and he has become a mentor of sorts. They are in Email contact, she has been to Borough Hall to visit a few times. He was really the impetus behind Meghan believing there is no limit to the difference she can make in the world. He continues to encourage her as she plans Beating Cowden’s First “Jeans for Rare Genes” fundraiser on February 15, 2015. I feel so fortunate for her to see such a positive role model who changes the lives of so many just by being himself.
Meghan chatting with Borough President Oddo!Meghan’s friend has been a great support in so many ways.
We had a fundraiser last year as well, and raised several thousand dollars which was donated to The Global Genes Project. Satisfaction. “For the babies who really need it, Mom.”
In February also in the midst of what was almost a train wreck around a bad snowstorm and a carefully orchestrated thyroidectomy, I frantically called in desperation to get us into NYC the night before the surgery. Ultimately we ended up with the greatest gift, as we were privileged to spend a few hours at Ronald McDonald House in NYC. The facility, the employees, the organization – all phenomenal. Our Guardian Angels were active that day!
Our Room
Meghan received some awards this year that made us very proud. In the Spring she was selected as “Staten Islander of the Week.” At graduation, she received the “Portrait of Courage” award. In the summer she received a nomination from the Global Genes Project for their “Teen Advocacy Award.” On my birthday she received a “Kid of Achievement” award from the Staten Island Children’s Museum. She was starting to get the idea that SHE can make a difference.
Meghan 2014 Nominee for Global Genes Project Teen Advocacy Award2014 Kid of Achievement – Staten Island Children’s Museum
In July the Borough President’s office arranged for Meghan to throw out the first pitch at a Staten Island Yankee game. And this girl who had never thrown a ball before received a crash course from some great friends. Not only was the pitch a success, but the number of friends and relatives who joined us at the game, wearing “I love someone with Cowden’s Syndrome” T-shirts, was beyond touching. We are loved.
August saw the overcoming of a lifelong fear of roller coasters, for both of us.
And in the fall we saw the first glimmer of hope that Meghan’s dream for a denim ribbon necklace was steps from being realized. Exciting times all around.
It looks like it will happen- SOON!
We capped the year off at the Stone House at Clove Lakes, with another family with a different rare disease, lighting their Christmas Tree to help raise awareness of rare and genetic diseases. Meghan’s intermediate school chorus came out on that chilly night to support the cause.
Meghan and Uncle Chris at The Stone House
So Cowden’s Syndrome, while it creates more than it’s fair share of heartache and obstacles, also creates opportunity when we look for it.
Just like we notch off and remember each surgery, and the milestone of overcoming the recovery, we also acknowledge, enjoy, and savor the positive milestones.
We remember that “everyone has something.” We are grateful for the blessings in our lives. No one’s life is perfect, and far too often we all suffer from the belief that someone else’s “grass is greener.”
May each day hold for you enough positives to counteract the negatives, and the ability to look for the good in all situations, people and places.
That is my wish for my family and friends near and far, not just for the new year – but for every day of your lives.
We are thinking we are far from alone in appreciating this Facebook post from the Global Genes Project. I mean these days it seems more than ever, I barely talk to someone whose life isn’t taking major, unforeseen “Plot Twists,” on a regular basis.
Global Genes hit this one spot on!
Whether it is the sick parent, or parents; the terminally ill or recently passed loved one; the stress of work, moving, new job, or the new house, life has a habit of not going according to plan. Brain surgeries interrupted, recurrent thyroid surgeries. The list really goes on and on. The only constant being change. And not on our pace, or our time. God alone knows the true plot of our stories.
Some have almost played out and are nearing the climax. Others are barely introducing the characters. And the older you get, the more you realize that doesn’t have as much to do with age as you might have once thought.
Sometimes I want to read faster. To see what comes next. To see how it all works out in the end. Sometimes I want to hide the book in a deep crevice, in a padlocked safe and convince myself that if I just don’t look at it, everything will be OK.
My logical mind knows that neither is true. And I, like everyone else, am left to brave each day doing the best I can with what I have, where I am. I am left to do my best to be kind. To realize everyone suffers battles. To pay it forward when possible. To pray for the best, and have faith when the worst hits.
We plod along here. The leg is getting worse. Much worse. The AVM is rearing its ugly head. A “Plot Twist” indeed. See in May when she spent a week in the hospital with severe gastritis, they said no more Celebrex. No one except Felix and I got the gravity of that statement. Celebrex had been in our lives since March of 2012, a month after the 4th knee surgery. And the knee had been remarkably quiet. You see in our lives, the life of Cowden’s Syndrome, Celebrex is used to treat AVMs – which are pretty common among us. It helps with the pain, and it has an affect on angiogenesis, which affects the flow of the blood.
Except the Celebrex, according to the report, had caused a very sensitive GI tract to go totally haywire. They said it caused 6 days in the hospital, dehydration, IV fluid, and a hot mess of tests. Over and over Celebrex took the blame. The drug she had taken peacefully for 2 years had finally said, “enough.” The esophagus was so damaged it looked like a 70 year-old man belonged to it. No more Celebrex. No more NSAIDs. At all. We were scared. Something had definitely gone wrong.
“PLOT TWIST!” Cause those drugs were keeping her walking, sometimes running, swimming, and playing.
But we wonder, her Dad and I, if that was really that simple. Our girl has been on some time of Protein Pump Inhibitor since she was 4 months old. She takes pancreatic enzymes to aid her digestion of a very restricted diet. And still we have always had to “pay attention.” Maybe it was the Celebrex. Probably it was the Celebrex. But what if it wasn’t?
When we left the hospital in May we figured 6 months before the knee was a serious issue again. It started in August. It’s getting worse.
On December 1st we’ll see the doctor who has dealt with it each time before.
But now we have an athlete. A swimmer who LOVES to compete. A swimmer with goals. Attainable goals. The time on Celebrex gave her time to get a taste of swimming. And she likes it. A lot.
So there will be some balancing to be done. How long is it safe to wait? How long can she stand to wait? How much of the season can she swim? How much pain can she take? How big is the AVM?
We have things to focus on. The February find raiser has us excited, and occupied. We will keep busy.
The story will unfold. Some of the best ones have multiple plot twists.
I mailed 15 pounds of medical history to the doctor who showed a hopeful interest a few weeks ago. She’ll have it tomorrow. Now let’s see what becomes of it.
Life doesn’t allow for planning. Mom keeps telling me. This year there is more up in the air than down. And yet, the days will come, one at a time. We will meet them, deal with them, and move on.
Cause really what other choice do we have? What choice do any of us have?
Saturday as she cleaned the music blasted. Katy Perry’s, “Roar”
…You held me down, but I got up (HEY!) Already brushing off the dust You hear my voice, you hear that sound Like thunder gonna shake the ground You held me down, but I got up (HEY!) Get ready ’cause I’ve had enough I see it all, I see it now…
…I got the eye of the tiger, a fighter, dancing through the fire ‘Cause I am a champion and you’re gonna hear me roar…
Today I turned 41. And while I am incredibly grateful for the gift of life, and for “More Birthdays,” as the American Cancer Society once put it, my birthday holds all sorts of emotional challenges for me.
I have a memory for dates. And seasons. And events. And people. Especially people I love a lot. And 23 years ago on this November day, my beautiful 6 year old cousin Meghan was invited to dance with the angels. Childhood Leukemia weakened her body so, that she was not to stay here physically. Yet on my 18th birthday I got the gift of the most spectacular guardian angel – and her name and her spirit live on in my girl. Even with all the good, the day messes with me. I tried explaining it to my Meghan last night, and the best I could give her was – 23 years become 23 days sometimes. The pain just gets a whole lot more fresh.
And Grandma, Dad’s Mom got her wings just a few weeks ago. After 88 years and a life well-lived, it was still tough to see her go. Not even a year since Dad…
And last November 12th, on my 40th, my Dad was in the middle of what was to be the fight of his life. We spent it together. An unsavory appointment, and some legal crap I wish never had to be.
And this year a dear, compassionate, kind-hearted, fun-loving relative sits, so close to the end of his life here on earth. My heart just gets full.
So, it came as a pleasant surprise last week when my cell phone rang and it was Gina from the Staten Island Children’s Museum, telling me that Meghan had been selected as one of this year’s “Kid of Achievement” honorees, for her advocacy work in the community. The luncheon was to be held on November 12th.
“Of course we’ll be there.” And I couldn’t wait to share the news with her.
We kept kind of quiet while she prepared her speech, and I sent her to school this morning with her backpack and her speech and a pretty dress. Quite a swap from her typical sweats.
We arrived at the Hilton Garden at 11:15, sized up the room that we will be in for our fundraiser on February 15, 2015, and checked out the raffles. We met the other honoree, a lovely young woman being honored for her work with Project Homefront. The tables filled in and the event began.
When Meghan was introduced for this award, her advocacy was the focus. Her nominee(s) knew her history. They knew of her work, and her goals.
She delivered this speech with incredible poise.
When my mom got the call that I received this award, I was thrilled. All of my advocacy began with me wanting to make a difference. I am so honored, and humbled to realize that I am.
I was diagnosed in 2011 with a rare genetic disorder called Cowden’s Syndrome. It affects 1 in 200,000 people and it starts from a broken PTEN gene. The PTEN gene is the tumor suppressor. The PTEN gene prevents benign and cancerous tumors, but since mine is broken I have a higher chance of getting these things.
My Mom was diagnosed weeks after me. A few months after that she was diagnosed with early stage breast cancer. She had some pink ribbons around the house, and she got a pink ribbon Pandora necklace.
I knew about the gold ribbon for childhood cancer, and the puzzle piece for autism. I knew there were many others, and that all these disorders had a symbol, and with a symbol comes a voice. I had many medical issues, and went to the doctor all the time. I knew there had to be symbol for people/kids like me; kids who’ve had eleven surgeries in eleven years, kids who’ve had countless tests and are treated like human pincushions. Imagine, all this happens to prevent cancer. There is no simple solution, only a constant set of routine poking, prodding, tests, surgeries and more!
We kept looking for a symbol. We found one when we came across the Global Genes Project. They stand for all rare and genetic disorders, their symbol is the denim ribbon, and their slogan is “Hope, it’s in our genes.” But, there was not a necklace, no jewelry. There was nothing to wear to help me show people, and tell the world about genetic disorders.
I asked my parents if we could get something made, and we did. My parents found a compassionate and caring jeweler who created the mold for the necklace I am wearing today. We reached out to the Global Genes Project again and again, in hopes they would sell the necklace too. Recently, they put a similar necklace on their market, and I can’t wait for it to become as popular as some of the popular pieces I have come to know.
Rare and genetic diseases are out there. Most are very rare, but there are over 7,000 of them. More work needs to be done individually and collectively, to get them the funding they need
In 2013, just about 18 months after our diagnoses, we celebrated “Rare Disease Day” which is February 29th – the rarest day- or February 28th on non-leap years, by handing out denim ribbons at our schools. We had assemblies, and I got to talk to my peers about what it was like to live with a rare disease every day.
I have had 4 knee surgeries for a vascular malformation in my right knee. I have a good deal of pain in my body, there, and pretty much all over. Some days I feel great, and other days I can’t get too far. One day in the spring of 2013, my mom was pushing me in a wheelchair to an appointment. I was annoyed by the number of people staring at me and talking about me. I heard things like, “lazy,” and “she’s not sick.” I decided I could be angry, or I could do something. While I definitely spent some time through the years being angry at some of the things – like running- that Cowden’s had taken from me, I decided instead I was going to DO something.
That night my Dad helped me design a business card that very briefly explains Cowden’s Syndrome. I have handed out hundreds to those who stare, and to those who just care. I like to spread the word, one card at a time.
This card was created out of her need to “teach” others about Cowden’s Syndrome.
This year, right before Rare Disease Day in February, I had my thyroid removed. Thyroid cancer is very common in young people with Cowden’s Syndrome. My thyroid had been watched since my diagnosis, and it went from having 4 nodules in 2011 to 16 nodules and 3 precancerous tumors in 2014. I was fortunate, but the surgery was rotten, and it has been hard getting the medicine quite right. I have been called a “Previvor,” which is someone who has an organ removed before the genetic cancer that is looming has a chance to strike.
This kid is clearly a “FORCE” to be reckoned with!
This year, for Rare Disease Day, I decided to raise some money. We sold T-Shirts at my school and we had a fundraiser. The money all went to the Global Genes Project, and it felt really good.
At my old school, in February, I also met the Borough President. He took such an interest in my story, he made me feel awesome. I have visited Borough Hall a few times, and love talking with him. He has encouraged me to keep dreaming bigger and I will.
Two weeks ago my Mom and I signed a contract with the Hilton for a fund raising breakfast on February 15, 2015. We will be raising money for the Global Genes Project, and the PTEN foundation. The PTEN foundation is a new organization, working just for PTEN disorders like Cowden’s Syndrome. We hope to have raffles, and T shirts for sale. We plan to have music and fin.
We set up ticket sales through eventbrite, and we called it “Beating Cowden’s First Annual Jeans for Rare Jeans Fundraiser.” Sales are open to anyone who wants to come support two great causes.
I am on a mission to spread awareness and raise funds for diseases people know too little about. I will not be satisfied until each of them has the recognition they need, and the cure they deserve.
Thank you again for this award, and for encouraging me to continue my mission.
Here is a video of her speech.
And when she was met with a standing ovation there were tears in my eyes. Tears of pride.
One after another people approached her, and complimented her.
Not a single one would have known the strength it took for her to walk in the room today. The pain was unbearable. But she did it. With grace and a smile.
And in addition to the compliments, there were offers to help. Real, genuine offers.
We will Email some of our new friends tonight. And with their help, in February we will blow this fund raiser out of the water.
It’s no secret that we have been followers of “The Global Genes Project” since our diagnosis in 2011. Meghan fell in love immediately with the denim ribbon, and their slogan, “HOPE it’s in our Genes!” That play on words stuck with her, and the ribbon gave her a good deal of connection at a time when we weren’t sure if we’d ever connect with another soul with “Cowden’s Syndrome.” The connection with the RARE Community at large carried us through those earliest days.
The end of 2011 and well, 2012, and… well, you get the idea… held some tumultuous times for our family.
Adjusting to the diagnosis was not easy. Finding balance within the labels, and the risks, and the screenings, and the surgeries, and the appointments was (and sometimes still is) a struggle. In the months when the diagnosis was at its newest, Meghan’s thyroid was called into question several times. We discovered nodules we never knew were there and learned the early risks of thyroid cancer were real, and ever-present.
She soon underwent the most horrendous of what would be 4 thyroid biopsies over the next 2 years. Scarred physically and emotionally, we began to wonder about this beast we were up against.
In February of 2012 Meghan had her 4th knee surgery for an AVM (arteriovenous malformation) in her right knee. Now convinced it’s stubborness could be credited to Cowden’s Syndrome, the fight to control it’s growth took on a whole new meaning, and we were referred for consultation to Boston Children’s Hospital.
While we balanced the screenings for Meghan, I was sent to my own set of initial screenings. Being 38 and newly diagnosed, I was in the battle full on, and I had had no idea. All the imminent cancer risks associated with Cowden’s Syndrome – except for the thyroid which often comes earlier – seem to peak right around 40. No stranger to doctors, I was trying to figure out how the diagnosis helped explain the roadmap that was my own medical history.
In March of 2012, I underwent what was to be a “prophylactic bilateral mastectomy,” to battle the 85% breast cancer risk I had with the PTEN mutation that caused Cowden’s Syndrome, and my own medical history which had already seen 7 increasingly suspicious breast biopsies. Seven days later, while having my drains removed, my husband and daughter sat in the room as the doctor announce it was a “good thing we moved when we did.” My left breast, the one that had never seen a scalpel, had 1 centimeter of DCIS, close to the nipple and clear of the chest wall. I had breast cancer. They found it by accident. My aggressive, intelligent surgeon, who I met because of my diagnosis, and really BECAUSE of my daughter had saved my life. I needed no treatment.
I left the room that day holding the two people I love more than anything. Unaware of the plans clearly in place for us, I was so filled with gratitude, and so in awe of the reality that if I had never had Meghan, I would have likely never known. And the surgeon’s words, “If we had waited till July like you had wanted, you would have been in a fight for your life,” still ring in my ears. Sometimes you have to stop the “what ifs?” and just say “thank you.”
Ten weeks later I was back in the hospital for a complete hysterectomy. A suspicious uterine polyp, enlarged ovaries, and Cowden’s Syndrome combined again for too great of a risk, and the recommendation was for surgery and quickly.
The shock on my body, the trauma to my family at this point was intense.
I had begun to scour the internet looking for places to go. I found http://www.PTENworld.com and its dynamic young moderator, a Cowden’s patient for many years. I found Facebook, and a beautiful support network there. I found a yahoo group, and a mom there who has consistently gone above and beyond for me, simply out of goodness. Finally, there were real people I could talk to.
One day that Spring I received a Pandora necklace with a pink ribbons on it. After years of advocating for my mother, a bilateral breast cancer survivor, holding the pink ribbons that belonged to me felt strange. Yet, so did the new boobs, smaller, but perkier than the old ones, and all the clothes I was learning no longer would fit quite right. So, I took comfort in that necklace and I wore it a lot.
And one day my very obsevant girl, who was 8 at the time, a few months shy of 9, asked me “What stands for me? The gold ribbon is for childhood cancer, the pink ribbon is for breast cancer, the puzzle piece is for autism. What about me? What about people like me who are dealing with this (Rare disease) every day? I NEED something mom. Not to have a thing, but for my identity.”
Stunned, as usual. I realized I had begun to heal myself, to seek comfort for myself, but I was leaving her behind.
So I happened to be retelling the story at lunch. And my teacher friend, whose husband is a jeweler, and who has a son with autism, really “got it” on so many levels. She told me she’d talk to her husband and see what was around. So I gave her a denim ribbon sticker from the Global Genes Project, and they were on a hunt. Which turned up nothing. There seemed to be no piece of jewelry worldwide to symbolize those with Rare Genetic Disorders. And, with there being over 7,000 RARE dieseases, accounting for almost 10% of the population, to us this was silly.
So my friend’s husband offered to make one. For Meghan. Because if she wanted a piece for her “identity” she should have one. So he did. It took months. And it was perfect. Absolutely perfect. And he was so generous in the donation of his time, all to light up my girl’s world.
August 2012
Typical Meghan, no less that 5 minutes after she put it on, she started with, “Wouldn’t it be great Mom, if these were available all over the world, and then we could see them when we went places, and we would know the people who have, or love people with RARE diseases?’ And the conversation continued to include asking me to reach out to The Global Genes Project to try and make it a reality.
Well two years have gone by. Felix and I each wear one too. Only 3 ever made. Until recently.
There have been lots of EMails exchanged. Lots of conversations. Lots of people. Ultimately they did decide to have the necklace made, and while the decision thrilled me, I would be lying if I said that I wasn’t disappointed that they couldn’t use our friend, the jeweler. But, business decisions are what they are, and this one was not in my control. And, despite that disappointment, Meghan’s dream, her vision, is becoming reality. We received 2 samples this week, and a “THANK YOU” from the team at Global Genes! The necklaces will be on sale through http://www.globalgenes.org in the fall!
Two years have gone by.
I have developed deeper, closer “long distance” relationships with some “kindred spirits” in the Cowden’s Community – globally!
My girl has some of her own friends with Cowden’s now, spread across the world. She will be 11 soon, and is quite the young lady. She understands life on levels deeper than she should. Most impressively she understands that despite our struggles, there are many in the world who struggle in heart, mind, body, and soul. She knows that “Everyone has SOMETHING!”
This past year she organized an assembly at our school. She worked with Student Council to arrange an evening fund raiser. She partnered with a friend in her own class who has a RARE Disease. We sold T-Shirts. We received intense support from faculty, and parents and students. Every child got a denim ribbon to wear for RARE Disease Day. We sent thousands of dollars to The Global Genes Project.
She has already begun to plan for next year, and wants a much bigger fund raiser. “At a place Mom.” We can really get the word out and raise money. For The Global Genes Project http://globalgenes.org/, and for the newly founded PTEN Hamartoma Tumor Syndrome Foundation http://www.ptenfoundation.org/, another organization close to our hearts.
She has a mind that never stops. She has the heart and voice of an advocate. And this year, she was nominated for the TEEN Advocacy Award at The Global Genes Project. (If you scroll down, the teens are close to the bottom.)
We missed church again today. Not because we overslept. Nope. We were up with plenty of time to arrive at the Urgi Center and take our typical seats, waiting in a crowded room. If I had my copays back each year, I think they would exceed my tax return. Which is no great shakes anyway, especially with the whole identity theft mess. But, I digress…
Yesterday was a CYO swim meet. It started poorly because the bungee on her prescription goggles snapped in my hand. And they don’t get to warm up before a CYO meet, so there was no way to check and see if the new cord set the goggles right. So, she want back to her old goggles. Guaranteed functionality – sacrificing vision.
She swam. Hard and as fast as she could. She maintained her time during her first 25 fly in the relay, and took 2nd in the individual fly. She even swam up – with the 7th and 8th graders for a 50 back, and took 2nd there too. But it was during the last leg of the 200 free relay – the last lap of her 50 – her father and I looked at each other and knew – the right arm was hurt.
When I met her in the locker room her resolve was strong. My mission was clearly to help her get out as fast as she could. But the arm made it tough to change quickly. We got into the car before it all came out. She explained how the loss of the prescription goggles altered her judgement and she banged her arm into the diving board rails as she started – out of a lane she has never been in before.
We came home and iced the arm. We watched as the pain seemed to get worse. It went from the arm, up into the shoulder and into the neck. We are so used to there being pain. This child lives in constant pain. Some people must think all sorts of things, because something truly always hurts. But we have learned to put them aside, and, we have to triage. Last week she walked around for 5 days with a sprained ankle. Pain is so personal. Her nerve endings seem so easily excitable. Any injury seems to trigger an attack of “hyper healing” effort by her body. Even with 200 mg of MAINTENANCE Celebrex a day, she contends with joint pain and muscle spasms.
But she is an athlete, trapped in a body that is not quite sure how to handle her. So she presses on, and in between wanting to stick her in a bubble, I am awed by her raw determination. She wants to RUN, and KICK, and PLAY, and SWIM, and be a KID.
It’s not uncommon for her to spend the day after phys ed. recovering. Or a day or two after an athletic play date trying to work through the residual pain. I know that the other kids aren’t fighting their bodies like this, and it breaks my heart. But she is one determined young lady.
Sometimes the only option..
So last night we sent a text to our PT. To know Dr. Jill is to love her, as she is one of a select group of medical professionals who truly works for LOVE of the children she services. And when you are Meghan you have “PT for LIFE” and she’s been a patient there for about 4 years! And at 9PM last night we were in her living room – getting informal advice from a very skilled friend. If you’ve followed our story a while you know Dr. Jill is the impetus behind our Cowden’s diagnosis. She is the one who said, “something isn’t right here – too many unconnected pieces. Take her to genetics.” And I did. And the rest is our unfolding story.
Dr. Jill encouraged us to get a muscle relaxant for Meghan at Urgi Care today.
She’s an absolute DREAM child – but really God knew what He was doing giving us ONE!
So we did. We also got a note because the injury is to her right bicep and shoulder. Her dominant side. And there is no practice for her tomorrow. And no Phys. Ed. on Friday… and then there is the math test this week. And the gamble as to whether she will be able to write enough, fast enough… So much to think about.
The muscle relaxant calmed the shooting neck pain for a while, but its on its way back as I type.
We spent some time today talking about our fundraising hopes for Rare Disease Day 2015. We talked about my promising conversation with the head of the PTEN foundation – formed in December 2013. We talked about wanting to do something BIG for the PTEN foundation http://www.ptenfoundation.org/ and Global Genes Project. http://globalgenes.org/
I sometimes complain about being too busy, but she, like me, needs a positive project – even a simple play date – just something on the horizon to keep her focused.
She managed to type out the homework. We are getting ready for tomorrow and another crazy week.
We are babysitting my sister-in-law’s 12-year-old rottweiler. A 3 dog house. Cause a little more chaos creates more reason to keep on keeping on.
And I marvel that aside from some waning eyesight which I will have to address eventually – my body is stronger, and more able to endure stress than ever before. And I remember that it’s a good thing I stumbled upon nutritional cleansing when I did. The closet is full of the smallest clothes I have ever owned, and the ability to endure is not to be taken lightly.
My Favorite!
So tonight we will get a real sense of how long the muscle relaxant helps. And tomorrow we will conquer the hurdles of having the dominant shoulder banged up during a school day.
I think I’ll get everything prepared nice and early. Just in case…
beatingcowdens 