World Rare Disease Day is February 28th. People all over the world will work to raise funds and awareness for over 7,000 Rare Diseases worldwide. In our house things are buzzing, as we prepare to teach the world a bit more about Cowden’s Syndrome.
There will be so much time to write. Soon. Right now we are preparing for Rare Disease Day 2017 and “Jeans for Rare Genes 3.” All the preparing brought me back to her video from last year. And then I looked at the year before, and the one before that. And I was struck by how much she has grown, not only in her technological ability, but also as an advocate, and a voice, and a human.
There will be no video this year. It was time for a change of pace. But, I thought it appropriate to post these here, now. She keeps me grounded. She keeps me going.
As I sit to write this some time in the middle of the night, I am reminded of the early years, when so many of the middle of the night hours belonged to the two of us. Yes, Meg, I said YEARS.
You struggled my girl, but your determination was evident early, like the day the NICU nurse called you feisty. She was right. And it has proven to be one of your finest and most valuable attributes.
When I look back on pictures of those early years, it doesn’t seem all that bad. I guess I never had time or desire to photograph some of those tear-stained days. And maybe. if it wasn’t for the colicky cry seared into my brain, I might have even come to forget that you considered sleep optional, crying and screaming mandatory, and that carrier pouch a requirement for all things. At one point we had even taken to calling you a kangaroo baby…
But, I look at the babies in those pouches, And I think to those mother’s “enjoy it.” You might find this hard to believe my dear, but there is not a single minute I would change or do over. Every step along this journey with you has BEEN the journey. And I have the deepest gratitude that God selected me to be your mother.
The path hasn’t been easy. Sometimes it’s been rocky, and a little unsettled. Other times its been like traveling through fire. On a bicycle. With no handlebars. Backwards. But, I think we’ve all found pieces of ourselves we never knew existed, and there is a family bond between you, and me and Daddy that so many envy. Not for what we’ve done or where we’ve been, but rather the fact that we have done, and continue to do it all together.
At eight years old, you were tossed a diagnosis of a Rare Disorder, a 1 in 200,000 PTEN Mutation called Cowden’s Syndrome, that has leveled many grown adults. But, by eight years old, you were already seasoned at doctors, OT, PT, and speech. You’d been there, and were still doing dome of that. At 8 you were intimately aware of what it meant to spend hours waiting for doctors, and you had a clearer visual of an operating room than anyone should ever have. So really, in reality, that diagnosis just pushed us in the right direction to continue to help you become who you were meant to be.
It’s rotten to be the “unusual one” the one with all the risks and the need for that “hyper-vigilant” surveillance. But, I’m thankful.
See without Dr. Jill to push us to your diagnosis, without all those things falling into place, it’s likely I wouldn’t be here to write this. Your diagnosis led to mine, and while I am intimately connected with the reality there is no guarantee of tomorrow on this earth for any of us, my heart is sure that you, my angel, my gift, you my dear saved my life.
I watch you with each passing year, and the challenges pile on top of themselves. And we both sometimes want to stop the presses and scream, “IT’S NOT FAIR” and the top of our lungs. but then we laugh. “Fair” is just a silly word anyway. It’s not the perspective we use. It’s not worth our time.
You approach this birthday with 17 operating room trips under your belt, and too may ER visits and, tests, and hospitalizations to count. You have had to make decisions, and think thoughts that are beyond the scope of what you should contend with. But with grace and dignity you proceed, because none of that is what defines who you are.
Despite unimaginable pain, you press on. Your body would not allow for dancing school or soccer. But the competitor in you was not to be silenced. Running was out of the question, so now you “fly,” in the water, 11 months a year 4-5 days a week for hours. You pull energy out of the crevices of your toes to push through when most would curl up and give up.
You press on in the community, focused to raise the necessary founds the PTEN foundation will need to create our patient database. But, you will not turn your back on the charity where you began, Global Genes, “for the babies who can’t speak for themselves,” you tell me. You make flyers, select venues, advertise and collect raffles. You speak at schools and organizations across the Island who will have you, to raise awareness that rare diseases are everywhere. For the last 2 Februaries we have celebrated Rare Disease Day with almost 200 people, gathered because you have a mission.
Youngest “Woman of Distinction” recognized in Albany by Senator Lanza in May. Proudest parents.
I watch you talk to people and I swell with pride. When you’re intermittently stuck in that wheelchair you hate, you decided to help the doubters, the starers and those passing judgment. A simple business card with a phrase you helped create “Cowden’s Syndrome – Rare. Invisible. Real.” It starts a conversation, or it ends the behavior. Either way you manage with grace to rise above.
You take the high road so many times a day. I know it’s not easy. And I know there are people in your path every minute determined not to make it easy. But, truth be told, as we are learning, there are others out there. There are real people, at swimming, at youth group, at SICTA. There are real people who are finally recognizing that you are pretty spectacular. And I don’t mean that in a ‘who is better than who’ way. I mean it in it’s best sense. Everyone is spectacular in some way. You just learned it a little early.
As you turn 13 this week, I wish you so many things, from the depths of my heart and soul;
*Never lose the magic. Ever.
*Never compromise yourself for anyone. Remember that doesn’t mean to be brick wall stubborn. It means to keep those morals. Rise above.
*Always remember no matter how wild and crazy the world gets, you’ve got two parents who will love you regardless… and that is a PROMISE.
*Smile, sing, laugh, act, dance, be sarcastic, and sensitive, and guarded and silly, with a healthy touch of humor thrown in. Do it all always with respect.
*Continue to constantly take every obstacle tossed at you, and it toss it back, or walk past it and move on. When they tell you you can’t, find a way to show them you can.
*Never let anyone make you feel less than. You, you are enough. You are always enough. God said so, and He is smarter. Trust.
*”Be the change you wish to see in the word.” – Ghandi
Your teenage years will be a giant path of self-discovery. It won’t always be smooth. But nothing is.
Be you, and it will fall into place. And in the off chance that none of that works, I’m not going anywhere.
I love you from the bottom of my heart. You truly are the child I was meant to have, and there is NO ONE I’d rather be #beatingcowdens with, than YOU!
Happy 13th Birthday! You will always remain, “My Most Thankful Thing!”
“Onward Christian Soldiers, marching as to war, with the cross of Jesus going on before…” That was one of Pop’s favorite hymns growing up in our Lutheran Church. He sang it loud. He lived it softly, but meaningfully…
It’s been a long time since I have written and I am sorry.
Writing is my therapy. It’s free and easy. When there is a few minutes to do it.
And that, well that has been the problem these last few weeks.
I know it’s hard to imagine life getting so crazy that I wouldn’t have an hour or two a week to get my thoughts together, but it’s true.
Time to catch you all up –
On Sunday, February 21, 2016 the Second Annual “Genes for Rare Genes” fundraiser took place at the Hilton Garden Inn on Staten Island. We had www.yeehahbob.com Bob Jackson from Walt Disney World at the piano entertaining the masses. We had generously donated raffles galore. We had 178 friends and family with us, raising money and awareness for Rare Diseases. We had Meghan, hosting, and giving her speech and showing her video. https://beatingcowdens.com/2016/02/21/meghans-rare-disease-day-video-and-speech-2016/ We had Borough President Oddo stop by to continue to support Meghan in her desire to raise awareness and funds. We had Charlie Balloons entertaining the children and the adults too.
It was a perfect day, and a month later I can tell you the total funds raised were $13,045.40 to be exact! A large portion of that money has been sent to the PTEN Foundation and will have a significant impact on helping people like us with PTEN Mutations. The balance of the money is soon to be on it’s way to the Global Genes Project They will always be near and dear to Meghan. We identified first with the denim ribbon, and the logo “Hope, It’s in our Genes.” And that is the site we learned first about Rare Diseases, and that we in fact are among the lucky ones. These are lessons we will never forget.
Finally, I THINK, (and I apologize if we forgot anyone) all the thank you notes have been written or Emailed. When I finally settled down to do it, there were over 80. Meg helped, but I just flat out write faster. Now, we rest on that a bit, while we consider what changes and what remains the same for next year.
But, life did not even pause while we planned this event. My grandfather, my 96 year old grandfather, who was still living on the second floor of the two family home my mother grew up in, caring for my grandma, his bride of 70 years, fell on January 13th. This set of a tirade of events of the next few weeks that brought us all through an emotional roller coaster. My grandparents were the center of my world for much of my life, and even though I am blessed to have had them for 42 years, it is hard to imagine navigating life without them. Pop visited two hospitals, had mutliple strokes, and ultimately ended up in the nursing home for rehabilitation. The rehab was not meant to be, and on March 3rd he passed away peacefully, after some tumultuous days.
Grandma, now resides in that same nursing home. Alzheimer’s has robbed her of much of her memory, but she is well cared for by kind, patient people. She is safe. She is calmer. This is a good thing. And, in one of many ironies, perhaps her disease has been a blessing. There was no need for her to say goodbye to Pop, as he always seems to be just “across the room” when we visit. They were never meant to be apart any way.
We celebrated Pop’s life at a beautiful service on March 12th. My conscious mind, the rational one, is grateful he is at peace, and thrilled to know he is Home in Heaven. The little girl in me, the one who adores her grandfather is sad. Just very sad, and not looking forward to the series of “firsts” in front of us as reality sets in.
I planted the seedlings for my garden, just as my Pop showed me. I am tending to them on the kitchen table with plenty of sunlight. They have begun to sprout.
And those seedlings, and signs of new life remind me of why Pop loved the garden so. It is refreshing to see growth, new life, and new promise each day.
We celebrated Kathi’s bridal shower, as she and Jon will marry April 15th. All things new.
Time keeps passing.
In the interim there have been regular Mommy things to do, like swim practice, and doctor’s appointments, and household stuff. Thankfully in this house we have a very, very helpful Daddy, and we do a lot of team work. Thanks to him, all those weeks I was out of commission cherishing every moment with Pop, he was here, keeping it all going.
Last week we went dress shopping for some of the events coming quickly.
This week it was shoe shopping. Shopping for shoes is never as much fun, because it is hard to find a shoe that is 12 years old, and supports those feet, knees and legs. The right knee, the site of 6 surgeries targeting that AVM, has residual damage. The muscles are not formed as well, obvious only to Meghan when she puts on a pair of jeans. The foot is over one full size smaller than the other, and it is skinnier too. So, we buy two pairs of shoes to make one “pair.” We are careful. Frugal when we can be as it’s all x2, but focus is always on fit, style and comfort combined. No easy task. But, we did it.
Meghan left the store apologizing for the bill. I told her how grateful I am that we can pay for shoes, and other things. We had a long talk about the phrase, “I cried because I had no shoes, then I met a man who had no feet.” It fits nicely with the perspective talks we have all the time.
Tonight I was thrilled to find a website that will allow me to donate her “other” shoes to amputees. She was excited too. Something that will make us both feel better.
This week I scheduled some more appointments. I was waiting.
Friday we head to the gyn for the 3 month follow up. The hormones are a nightmare, but that’s for another post. The next biopsy is supposed to be in June…
The dermatologist 6 month will be during spring break. So will the orthopedist.
Cowden’s wasn’t gone. Heck, it wasn’t even resting. I was just using a big stick to hold it at bay for a few weeks. I’m sure I left some stuff out. It’ll come up if it was all that important. Just know-
This is the text of the speech Meghan delivered at this year’s “Jean’s for Rare Genes 2” Fundraiser. Regardless of the monetary totals, which will come in the next days to weeks, I can assure you it was a success.
I want to start by thanking you for attending this fundraiser here today. This is the second “Jeans for Rare Genes, a tradition I hope continues to grow each year.
I knew nothing at all about Rare Diseases until the fall of 2011. I was in 3rd grade. I went to a geneticist because I was having all sorts of medical trouble. He diagnosed me with Cowden’s Syndrome. A few weeks later he diagnosed my mom with the same thing.
Cowden’s Syndrome is a mutation (a break or a mistake) on the PTEN gene which is a gene that is supposed to keep the body from making tumors. Basically, when you have Cowden’s Syndrome, which is pretty rare (only 1 in 200,000 people) your body makes tumors. Sometimes they are benign, and sometimes they are cancer. It also causes my body to make vascular malformations, like the one in my right knee, that has caused me 6 surgeries all by itself. That is why with Cowden’s Syndrome we have to be watched all the time. There are so many doctors, so many things that need to be checked, and scanned and looked at, it can be really overwhelming.
You can’t catch Cowden’s Syndrome, it has to be inherited, like I got it from my Mom. You also can’t get rid of it. Once you have it, the only thing you can do is get checked, a lot.
I have had 16 surgeries so far, and I only turned 12 in August. That doesn’t even count for the doctor’s appointments, Emergency Room visits, scans, and never-ending blood tests.
When I first learned I had Cowden’s Syndrome, I went to a website called the Global Genes Project to learn of facts about rare diseases. I learned all sorts of interesting, and sometimes upsetting facts.
30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the S. population
80% of rare diseases are genetic in origin
Approximately 50% of the people affected by rare diseases are children
30% of children with rare disease will not live to see their 5th birthday
95% of rare diseases have not one single FDA approved drug treatment
Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease
I started out feeling like I didn’t fit in anywhere. I couldn’t understand why all these diseases existed and no one seemed to know or care. I found the “Global Genes Project” motto, “Hope it’s in our Genes” to be a comforting play on words. I identified myself with the denim ribbon, a powerful symbol of Rare Genetic Disorders. My Mom’s friend made me a denim ribbon necklace, and I felt like I had an identity piece, something that represented me.
At first I organized an assembly at my school, and in 4th grade we gave out denim ribbons to raise awareness. In 5th grade we had a fundraiser. We sold some T-shirts, and had a small event at the school. The money went to the Global Genes Project.
Last year, a charity was created called the PTEN Foundation. It is the first charity that looks to help people with our specific disease. They want to create a patient database, so people with our Syndrome can be studied and learned about. Then, maybe there will be a way to help us.
As happy as I was about the PTEN Foundation, by this time, I had learned about a lot of other Rare Diseases, and kids, who didn’t have a chance to live and do as much as I can. I promised myself I would always remember those kids when I did any fundraisers.
Last February, “Jeans for Rare Genes” happened at the Hilton Garden Inn. I wasn’t sure I could pull off anything that big, but with a vote of confidence from Borough President Oddo, and my Mom supporting my vision, it happened. 150 people showed up, and we raised over $12,000. True to my word, half of the money went to the Global Genes Project, and the other half went to the PTEN Foundation.
This year, I invited Bob Jackson, my favorite entertainer from Walt Disney World, to come and play piano at “Jeans for Rare Genes 2.” He is here with us today and I am so excited! We also have “Charlie Balloons,” back to help us again, and lots of great raffles from generous donors. This year, I think and hope we can raise a lot of money to send to the PTEN Foundation and the Global Genes Project.
One of the hardest parts of having a Rare Disease is one I don’t like to talk about too much. Middle school is tough enough, but when you spend more time at the doctor than at social gatherings, it gets tougher to fit in. I am glad that with Cowden’s Syndrome I don’t “look” sick, except it makes it even harder for people to understand why my life is so different.
I’ve gained an appreciation for the reality that “everyone has something,” and I work hard at not judging others, because everyone is fighting their own battle. I want to make more people aware that this is the case, and that is why raising awareness for Rare Diseases is so important to me.
The pressure of life, the surgeries, the hospitals, the worrying, the waiting, and the wondering, has done a lot to make me who I am. I don’t wish for anyone else to really understand this pressure, but I sometimes wish more people would understand me.
I have met a handful of people along the way, some in the most unlikely places. These people have provided me support through the pressure, and I am forever grateful.
I know I still have a lot of time to grow into the person I am supposed to be. I love swimming, and drama and singing. I do well in school, and I love being with my friends. I love helping others. I will continue to search out my “Corner of the Sky.”
As you watch the video I have prepared for you, you will see that despite the pressure of life, I will not ever be defined by my disease. I am determined to focus on a brighter future, and to channel my energy into making a real difference in this world.
I look forward to seeing what the future hold, and how the next chapter in my life turns out. I hope to see you at our event next year!
When you’re through reading take the time to appreciate her video, created by herself!
This is already all over for my local friends, but for anyone else who is interested, this article was written for our local newspaper. It will publish in print Monday, but is in the online paper today. Click the link below.
With another fall season upon us, life is in full blown crazy mode. And, to be honest, we wouldn’t have it any other way.
Yesterday, my 12 year old FINALLY throughly enjoyed a Halloween. It was such a thrill to watch. FINALLY, she was able to trick or treat, EAT a few treats, AND keep up with some serious walking with friends.
Of course, she slept until almost 1 pm, even with the time change, and woke up unable to move her AVM knee. These are the repurcussions we expect. She is not “normal,” but when she can pretend for a while when it really counts… well that is a great success. And even as she lay still most of the day, she smiled. She sang. Joy.
Fall is full of things, and so far she’s managing nicely. With a marking period to end Friday, Pupil Path tells me grades are at an all time high. Practice 4 times a week has her swim times at an all time low. And, drama twice a week is leaving hopeful anticipation as “The Wizard of Oz” is soon to be cast.
She is working with me to plan our second fund raiser in February. We chose a date close to World Rare Disease Day, with the continued desire, and intention to bring awareness to our rare disease, and over 7,000 rare diseases worldwide that affect 10% of the world’s population. We are acutely aware that to be heard, we need to join collective voices. Individually we matter little to most of the healthcare system, overwhelmed, uneqipped to diagnose and treat us. Together is the only way we have a chance.
Last year we raised over $12,000 and donated it to the PTEN Foundation (www.PTENfoundation.org) and the Global Genes Project (www.GlobalGenes.org). This year we hope to exceed $20,000 in donations.
We have brought in Bob Jackson, a performer from Walt Disney World. He will be flying up to entertain our guests. Our whole family LOVES Bob, but Meghan especially will not hear of celebrating a birthday until Bob sings to her. We’ve spent her last 8 birthdays at Disney.
Here is a youtube video that is a great indicator of the FUN time Bob brings!
We have lined up sound with Partners in Sound, and we have Balloon Charlie returning to also help entertain the children.
We have established a children’s menu in hopes that families can enjoy the afternoon out together.
There will be raffles and lots of laughing.
There will be comfortable JEANS and good friends.
We are setting up a facebook group called Jeans for Rare Genes 2016 Staten Island, and we encourage you to join.
Meghan is living life as a 12 year old who just happens to have had 15 surgeries. She is a 12 year old who just happens to have a Rare Disease. She is a 12 year old who realizes that as challenging as life is, so many others suffer worse. She is my hero. She is MY role model.
Together we will make Jeans for Rare Genes a thrilling success. Hope to see you there!
So, four years ago they diagnosed this girl with a rare genetic disorder called “Cowden’s Syndrome.” Soon after they diagnosed her, they diagnosed her mom too.
And the mom and the girl read everything they could find, which really wasn’t very much.
And they asked a lot of questions. Some from the doctors, but mostly from people on the internet who had this Rare Disease too.
They learned a lot. They also learned there was a lot to learn.
They learned about cancer risks, and how very high they are.
They learned about screening tests.
They met lots of new doctors. Some were super awesome, and others were super awful.
They fired the awful ones, and kept the awesome ones.
The doctors sent them for tests, and screenings, and blood draws, and all sorts of poking and prodding.
At the beginning it was pretty much all they had time for.
The girl had lots of surgeries, and lost her thyroid, and then they called her a “previvor” because they said she got it out just in time before it was cancer.
The mom, she had a bunch of surgeries too. In one they found cancer. But she was called a “survivor” because it was all gone. (Thanks to the girl who got diagnosed first and saved her life.)
The girl and her mom ran from doctor to doctor. They sat in traffic for forever. They stayed in hospitals and had surgeries, and tests. Everyone treated them kind of strange. Like they were aliens or something. Their condition was so rare that hardly any doctors even understood what they were supposed to do.
Over time the girl and her mom got a better idea of what really mattered and what didn’t. They started to be more assertive about doctors, and schedules and planning. They started to say, “not right now,” sometimes, knowing that a few weeks wouldn’t matter, but a few months might.
The girl and her mom talked a lot about Cowden’s Syndrome. They talked a lot about Rare Diseases. Sometimes they were really angry. Sometimes they were sad, and other times they were grateful. They saw what some other people with Rare Diseases went through.
The girl and her mom had LOTS of long talks, real talks about tumors, and tests, and cancer, and life.
They worked on some things separately and some things together. But they agreed to get busy living.
That didn’t mean they could ignore the seemingly endless doctors appointments. They all had to be done. It meant they could schedule smarter. It meant they would talk about what symptoms had to be addressed right now and which ones could wait. It meant they had to get really good at communicating.
This isn’t always so easy since the girl is almost a teenager, but they are getting pretty good at it.
The girl had 4 surgeries this year, some more major than others, but she spent lots of time recovering. And she learned that she liked to be busy. She likes to sleep too, but she likes to be busy. With kids. Often. She also likes to be active. A lot.
The girl and her mom still have this Cowden’s Syndrome, and sometimes for reasons no one understands, they hurt a lot. Sometimes the pain makes it hard for one of them to push on. Sometimes the tired almost feels like they can’t go on.
But the girl and her mom, they push each other. They push each other to press on because laying down and giving up is not an option.
Their days are long. The mom works full-time. The girl goes to 7th grade and makes high honor roll.
Their afternoons are full of drama club, the girl’s love of theatre, and lots of swim practice. The days are often 13 hours or more of constant motion.
The girl and her mom, they decided that they might have a Rare Disease, but it definitely wasn’t going to “have” them.
So they decided that whatever comes their way, they are going to be active, healthy, strong, fueled with nutritious food, and built of muscle. This way if Cowden’s punches, they will punch back harder.
Sometimes the mom wonders if life would have been different without the girl. The mom wonders if alone she would have been able to push on.
But she doesn’t have to wonder. Because they have each other. And, because this weekend they spent 3 days at a swim meet. And the girl knocked major time off her events.
And, when they came home, the daddy, who is the glue that holds them together, had warm chicken, and rice and vegetables, the healthy fuel – all ready.
And the mom and the girl were so grateful. For each other. For the desire to fight. For the strength from good food, and faith, and the love of a dad who backs them up every step of the way.
And as the mom drove the girl to youth group at their church, they talked, about the swimming. And about the fundraiser they are planning. So that Rare Diseases scarier than theirs get some attention. “For the Babies,” and so that there can be research for this Cowden’s Syndrome. So that maybe it can get stopped in its tracks.
And as the mom walked home enjoying the fresh crisp air of Fall she was filled with gratitude.
For this story of BEATINGCOWDENS has only just begun. And each chapter holds more promise than the next…