Kid of Achievement!

Published on November 12, 2014November 12, 2014 by beatingcowdens4 Comments

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 29^th – the rarest day- or February 28^th 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 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 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.

Kid of Achievement indeed.

World, you haven’t seen anything yet!

Here’s the link to our local paper….

http://www.silive.com/westshore/index.ssf/2014/11/staten_island_childrens_museum.html#incart_river

And while you’re at it – book your tickets for February 15th!

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

Competence, Compassion and Dedication? All at once!

Published on November 4, 2014 by beatingcowdens3 Comments

Yesterday afternoon began very typical of so many of our days. I left work, got Meghan at school, and instead of heading home we headed to 60th and 5th for a doctor’s appointment.

Trip to Manhattan, not a problem. Trip IN Manhattan – super high stress.

Felix met us and I was able to let Meghan out of the car to endure the extra 20 minutes needed to get around the block to the parking garage I had printed a coupon for. Silly as it may sound, that advanced planing has saved me hundreds of dollars – as our bill yesterday alone was a meager $35 for the lot as compared to the $63 it could have been.

Inside we filled out tons of paperwork, Meghan and I as new patients, and Felix in for his one year follow up. It was the first time we’ve actually had an appointment as a family.

Last year we ended up with this doctor for Felix after a skin biopsy went bad locally. It took weeks for me to obtain less than favorable results, news of unclear margins, and the potential wait of several weeks for a repeat excision. I promptly transferred the biopsy slides and all information to a cancer specialty center in Manhattan and we met our doctor. She had the slides reviewed and told Felix that not one, but BOTH sites biopsied needed further attention. She took them to clean margins and ultimately diagnosed him with “Dysplastic Nevus Syndrome.” He had been fortunate. Precancerous lesions cleanly removed. Annual screening from then until forever.

This year Felix squirmed a bit when I talked about his follow up, but I knew if we could all be connected to this doctor it would be a win all around. Little did I know the scope of the score it would be.

Meghan, now with not only Cowden’s to raise her skin cancer risk, but also the genetic “dysplastic nevus syndrome” potentially inherited from her father, needed a dermatologist in place for annual screenings – ASAP. And for me, well, it was something I had been doing, but not with someone too good. Time to ratchet it up a notch.

The doctor was amazing.

She immediately made Meghan feel comfortable and valuable, and spoke with her at length about the presentation of Cowden’s Syndrome she had experienced. My daughter is incredibly empowered about her own health and held a 10 minute conversation quite nicely. While I filled in a few gaps, the doctor told us she had worked previously at the NIH, (National Institute of Health,) and the NCI (National Cancer Institute) and was therefore, aware of Cowden’s Syndrome. That alone is a rarity in our world.

But she took it much farther than that. She wanted to know about the disease presentation in me as well. She wanted to know how much had gone on before and after diagnosis, and how difficult of a path we had traveled to try and find knowledgeable doctors. She was in constant thought, wondering about what she could do. She spoke almost immediately about training her peers to be the front lines in screening for Cowden’s Syndrome, and how if they could identify classic marks like the trichilemmoma she removed from my forearm, they might be able to raise flags early and help save lives.

Harmless enough, common in Cowden's Syndrome, she wanted one confirmed though biopsy. — Harmless enough, common in Cowden’s Syndrome, she wanted one confirmed though biopsy.

Healing... less than 24 hours later. — Healing… less than 24 hours later.

She wanted to know what we had in terms of screening, and records. What could I send her? CDs? Images? PDF? How fast? She could have my CT scan reread for no fee. Just send everything. (Of course everything is in about 6 inches of binders. So there is sorting and scanning to be done.

What is this http://www.PTENfoundation.org ? She wanted to know. Can she refer people there? What if she publishes in a dermatology journal? Could she list the foundation?

My head was literally spinning – but in a good way for once.

I am going to present on you she said, both of you. But no one has to know its you.

And finally a doctor who ALSO feels this way!

“Can I come?” asks my curious 11 year old.

“Of course…”

And as she took such a liking to Meghan she asked me who was managing her care. When I said, “me.” She was visibly bothered for me.

Someone should be looking after her. Let’s think about what she needs. And with that she rattled off doctors to handle things I couldn’t get my local doctors to address with a ten foot pole. She told me I’d hear from her this week, and from some other doctors too.

I left with three negative exams, 6 months for me and Meghan, and a year for Felix. I left with my belly hungry and my head racing.

Was I dreaming? Had I really finally found the doctor to help us?

No one should have to travel your path alone, she said. You need help navigating.

From her lips to God’s ears. May she be true to her word.

In the mean time I have quite the homework assignment.

So as I sit with my “eventbrite” window open, excitedly hearing the “dings” of attention out February Fundraiser is generating – I am going to get started on perhaps the most important homework of our live

Champions of HOPE

Published on July 8, 2014July 8, 2014 by beatingcowdensLeave a comment

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.

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.)

http://globalgenes.org/2014-rare-champions-of-hope-nominees/

Champions of HOPE indeed. So proud of her. So proud to see her name with all the others who have decided to “Do Something.”

“HOPE it’s in our Genes!”

We are BEATINGCOWDENS!

Playing in Pain

Published on April 27, 2014April 27, 2014 by beatingcowdens3 Comments

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.

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! — 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.

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…