I was in the stairwell close to the 5th floor of the nursing home where my grandmother resides when the phone rang. I paused, startled by the ring, and trying to suppress my slightly out of shape panting before I … Continue reading
I had a list of things to accomplish while I recover from my vocal cord surgery on 3/3. I have been unable to work, preserving my voice for exercises given by my therapist, and brief conversation. But, aside from the inconvenience of not speaking, I have felt pretty well.
That left me with a little time to get a few things done.
I could not push it physically, but I sorted papers, shredded, sent Emails that were overdue, and generally handled things that had fallen by the wayside during the busy nature of life.
I discovered, much to my disappointment, that my attention span for reading has decreased exponentially since spending so much time at a computer screen these last few years. I vowed to get to work on that.
I also discovered that I have an account on the family’s “Netflix” and I learned how to sit still long enough to binge watch some “Law and Order.”
There was time over these three weeks for some honest self-reflection as well.
Sometimes it’s painful to put truth right in front of our own faces, but I had the time to do the work, so I went for it. I already wrote about isolation, and I had some time to think more deeply about what role my own actions play in that. I was able to reconcile that some of it is unavoidable, and some can be mended by me. Balance. I’m on it.
I also took a hard look at my own emotions and how they affect my house.
It is so easy to get “stuck” in the role of caregiver. It is so easy to live a task oriented existence, making sure things get done, and arranging the logistics of life. We may only have one child, but you add into the equation, two of us with a genetic disorder that involves countless appointments, surgeries, therapy and follow-ups things get dicey quickly. Add in that every appointment in NYC is a MINIMUM of 4 hours, and sometimes 6 or more, and the billing that comes with these appointments is at least a part-time job on its own, well, your head can spin. Then, you think about the issues that surround friends and family, illness, disease, financial hardship, emotional distress, and your heart can hurt. When you join that with “regular” stuff, like 2 working parents, a scholar, athlete, theater buff kid, food sensitivities, prescription medication, and anxiety all around – well, it can easily become all-consuming. And it did.
I sat in my office one day, looked around and realized I was unhappy. That was a tough realization.
I am not unhappy with my husband, or my daughter, or the countless blessings in our life. I just became so consumed with getting things done that I forgot myself. Literally.
Sometimes its good to reflect. It’s the only way to get things done.
Last week my sister sent me a box of essential oils. I was skeptical. I bought a diffuser. I feel like peppermint in the air while I work is good for my soul. So is trying something new.
Tuesday I went to Kohl’s. A quiet activity easily done alone. I felt the tension start to release. I picked up a few things for me and for the house. I went out because I WANTED to.
Something amazing happened Tuesday. My husband and my daughter both remarked that I looked happy. I had a story to relay at dinner that was about me. The mood in the house was lighter.
Wednesday I took a nap in the middle of the day. Because I could. Again, I found myself with a little less pressure in my shoulders.
That night I promised myself and my family, no matter how busy things got I would find a way to spend 15-30 minutes every day on SOMETHING I could say truly made ME happy.
I’m a work in progress.
I chose to do a deep cleanse on Thursday and Friday. I was working on my mind, but I had to bring my body along. It had been too long. I had gotten a little lazy in my habits and in my routines. I have this incredible nutritional system at my fingertips and in my home, and sometimes I forget to use it to its full potential.
I woke up this morning having released 5.1 pounds of junk. I started the day with a protein shake full of strawberries. I shopped with my girl this morning. Then, I got to listen to her singing lesson. Now, they watch a movie while I get to write. Then, my little family is off to dinner together.
This week the spring plants that sprouted on 3/3 started to really grow.
The caterpillars that came in on 3/2 have all become butterflies today.
Maybe we all used the same period to try to transform a little. Nothing like a few new butterflies to remind you about new beginnings.
I am focused on this journey now. I may falter along the way, but I will hold true. This feels right. This feels good. And when I feel right and good, it is much easier to remain
If you were with us at “Jeans for Rare Genes” you heard me announce we had received a grant for $2500 from the Richmond County Savings Foundation.
This story Inspirational Staten Islander to host Fund Raiser ran on February 4th. On February 8th I was contacted by the Richmond County Savings Foundation. The story had been read, and it was suggested we apply for a grant on behalf of the PTEN Foundation.
We are relatively new to the fundraising thing, but with a lot of help, we got on track and completed the application. The PTEN Foundation President, Kristen, spoke with them to get the 501c3 papers squared away. And – about 10 days later we were notified of a $2500 grant, awarded to the PTEN Foundation!
We included the grant money in all our fundraising totals for the event, but today we got to go to the office to receive the check. We got to meet Mr. Cesar Claro, who noticed Meghan’s story. We got to meet Ms. DeSapio who helped us so much via phone and Email.
Meghan took the day off from school, because my speaking time is so limited, and because she’s the reason all this happens anyway. It was just right for her to be there.
We gathered in a conference room with about 10 incredibly inspirational people. I loved how professional, yet casual the whole experience was. Amounts of grants were not discussed. Checks were distributed in sealed envelopes, but first , everyone spoke about why they were there and how the grant was going to help.
Meghan spoke a little about Cowden’s Syndrome, and how we are hoping the PTEN Foundation will be able to inspire research on our disorder. She did great, as usual.
We got to hear from a teacher, and his school’s work with Habitat for Humanity. We heard from “Metropolitan Fire” and how the grant would help their organization.
We got to meet Dennis McKeon From Where To Turn, and hear about the work his organization does on Staten Island.
We heard about the Moravian Church garden and their donations of food.
We met E. Randolph Wheagar from 2nd Chance Youth Empowerment Program, and we were inspired by their community work as well.
We met Jennifer Dudley from Staten Island Children’s Museum and learned about their efforts to “spruce up” the museum.
We met a few other incredible folks as well, one whose organization was obtaining deeds to local neglected cemeteries so they could be maintained. In the absence of pen and paper a few are slipping my mind, but it was a fantastic experience. It was an intense 45 minutes!
Perhaps the one that touched our hearts most was Mr. Capolongo who spoke of his son Michael with Duchenne Muscular Dystrophy. If you are not familiar with the genetic disorder, you can get some information here. Duchenne Muscular Dystrophy It is a genetic disorder affecting about 1 in 3,500 boys. The body lack dystrophin, and without it muscle cells become damaged and weaken. It is progressive. Michael is 11. They have 2 other healthy children. They are a family like ours. Dad is a policeman, mom is a nurse and a breast cancer survivor. Yet, they have managed to create a not for profit, Michael’s Cause and have raised a million dollars to help fund research, and hopefully, ultimately a cure.
In the 30 minutes we sat across a table I felt inspired, and connected. I respect so much the positive outlook, and the awareness that even in strife, others have it worse. I respected the acknowledgement that every day is a gift, and life can change your perspective quickly. These are things we identify with in this house. Those are principles we live by.
Meghan and I often feel a little more “at home” in the presence of others with rare disease. While they are all so drastically different, the difficulty, the fear, the unknown, the isolation, they all overlap. And what also overlaps are your decisions in how to handle them.
I was reminded of my own girl, at the age of nine telling NY1 that. “You have a choice, you can get angry or you can DO something.” And, “I feel like I was put here to DO something.” Watch this clip and reminisce with me.
Today we were full of gratitude. Today we were inspired by others. Today we were reminded of our own mission. Today was a continuation of an ongoing goal, and a reminder that it matters. It all matters.
We were worried. Attendance was at an all-time low. We had picked a bad weekend, but it was too late to change it.
We took the event off “eventbrite” this year, looking to take the fees they collect and get them to the PTEN Foundation.
It took a whole lot of record keeping, but it was worth it.
We had an “Early Bird Special” and free T-shirts. We opted for a new venue, a deluxe buffet brunch, and beer, wine and sangria for the grown ups.
After months of planning, of soliciting donations, of advertising, Emailing, and distributing flyers, we had exhausted every avenue we knew.
We received so many generous donations that were accompanied by, “I wish I could, but..”
We received so many well-wishes and positive thoughts from genuine people.
But, in the end we were looking at attendance numbers far lower than last year.
We had excellent baskets – Some were gathered by friends and family. Others were given as donations, and many were put together by my loving husband.
Meghan and I wrote out and carefully planned what we wanted to say.
She opted this year to stray from her pattern of creating videos, and she created a Power Point of the year in review instead.
But, as late as that morning the text and phone calls kept coming from people who could not make it.
We walked into the room anxious. Not sure of how the day would go.
We should not have worried.
What this crowd may have lacked in volume they more than made up for in LOVE, SUPPORT, GENEROSITY, and COMPASSION.
They were from all areas of our lives. There were family. There were lots of cousins. There were friends. There were colleagues. There was Meghan’s Physical Therapist, her math teacher, and her former paraprofessional. There were friends of friends. There was Charlie Balloons, and a DJ whose services had been paid by some dear friends as a donation.
There were 42 raffle baskets, and a 50/50. The money generated just from those two things was mind-blowing.
There were 2 schools, PS1 with cousin Kim, and Holy Rosary with our friend Christal, that each raised over $400 at their schools for the cause.
We laughed. We drank. We ate. We talked. Kids danced with balloon creations. There were musical chairs and fun. There was pure love in the room.
When Meghan and I spoke there was silence. Attention. Focus.
Cowden’s Syndrome is understood by this crowd, because of us.
And there stood my daughter, telling this crowd of 100+ that she was tired of “Living with Cowden’s Syndrome.” She “put Cowden’s Syndrome on notice.” She told it, it was time to “keep up with her.” She’s got things to do. Places to go. People to see. She’s growing up right before my eyes.
Not long ago she was a scared and confused 8 year old. Now she is a wise, and mature beyond her years, 13-year-old young woman. She wants the PTEN Foundation to flourish. She wants research, a patient database, and even a cure. She’s 13. There is time to get it right for her, and all the young ones being diagnosed after her. She has drive and ambition.
She chose a song to end her speech. She chose “Let it Go” from Frozen. She toyed around with a few songs, but this is the one that spoke to her, at this moment. This one got to her heart. And you could tell, as she belted it out acapella.
In the end, as people with full bellies, and big smiles, hugged us goodbye, they spoke of “next year.” They said this one was “the best yet.” We felt loved and full of gratitude.
And as we sorted through the finances, we were struck with something amazing. Jeans for Rare Genes 3 would be making a cumulative donation of just over $12,000 to the PTEN Foundation. This love, this event, these people, the generosity of so many, had generated an amazing amount.
Our hearts are full of gratitude.
A donation of over $12,000 to the PTEN Foundation. Because of you.
Thank you for valuing a cause that matters so much to my family. Thank you for loving us. Thank you for supporting us from near and far. Thank you for your never-ending generosity. Thank you for your prayers and good wishes.
Because of you we remain #beatingcowdens!
The day after Christmas in our house is reserved for a blissful amount of peaceful rest. A few loads of laundry, a simple meal, late sleeping, playing with some new “toys,” recovery, and reflection fill the hours. It is a wonderful, necessary day to pause and recharge.
I am awestruck by how fast days blend into weeks, and months, and even years. My girl is now a young lady. A young lady of 13 years old with the fall devoted to High School Applications, academic honors, hours of swimming, and some drama (class) thrown in for good measure. It was a crazy season, but a remarkable, beautiful time of transformation.
I don’t get time to write as much as I used to. But, truthfully, you don’t need to hear from me all that often to follow along. The writing remains my way to sort out life. I feel fortunate that so many of you come along for the ride.
So much of our journey #beatingcowdens is couched in perspective. We talk so much about the realities of everyone’s life. We talk about the things people endure that we can not fathom, and we talk about how hard it is to have some of the conversations necessary in the life of my 13-year-old. We talk. Often. And perhaps that is the first of many blessing I have.
My girl has become a young woman through a path that is different from most her age. Notice, I deliberately chose the word “different” as we are careful not to measure things in “better” or “worse.” The medical drama unfolded at a fast, furious pace, most concentrated in the years from 8 to 12. And we held fast through each one, but then, slowly, the dramas began to slow down.
At first we didn’t want to say anything. There is the fear of “jinxing” the situation. When medical drama is your “normal” you don’t really know how to live any other way. It sounds bizarre. You want so desperately to be rid of it, but the relief of losing it would be so intense, that to relax and then have it hit you again could be crushing. So you stay on your guard. All the time. But sometimes when you do that you can get a little… I don’t know, isolated, alone, rough?
There is a security connected to living in a state of medical drama. At least you know what to expect.
But, it’s not a place to hang out when you don’t need to.
Meghan’s last biopsy was in July. The follow-up is this week. My last surgery was in August. And, in a turn of events here, I have spent the last few months in vocal therapy sorting out ways to work around the tumor that desires to strip me of my ability to communicate. We’ve had some success, and last week even amidst a terrible head cold, my voice made it with me all the way to Friday.
And it was on that very Friday morning, as I drove Meghan to a 5:30 AM swim practice, with my head-splitting and my nose running, that I told her how lucky I felt. She may have checked me for fever, to see if I had totally lost it. But I explained – a year ago facing Christmas break without her having been knocked down at least once by something major was an impossible dream. This year, she had done more than ever before, and seems to be getting stronger. That morning I was grateful that I was able to get my butt out of bed, to take her to the place she loves, so she could work on the sport she loves.
This fall we have successfully removed 2 stomach medications that were previously necessary for survival. And, we are well on our way to eliminating a third. There is nutrition, exercise, and natural alternatives in their place. And it is working.
She came home a few weeks ago with a perfect attendance certificate for the month of October. I save everything. I think that may have been her first. These are the things that keep us in perspective.
We have a “doctor cycle” among us now. The knee needs to be checked again, MRI, and two knee doctors. There are clinical exams, GI follow-up and endocrinology. The afternoons these next 6 weeks will be swallowed up with trips to NYC. I’ll add in some appointments of my own, as I prepare for vocal cord surgery, tentatively set, but not yet confirmed. We’ll keep swimming, literally and figuratively. We’ll hold each other up, and we will do something a little different. We will, instead of fitting out lives into the doctors, we will fit the doctors into us.
Raising kids, one, two, three, four, or more- regardless of gender, or age combination each holds unique rewards and challenges. We have our moments, my girl and I, when we challenge each other to the best we can be. Sometimes its deep conversation. Sometimes it’s a little less pretty. But, we do it. We learn and we grow together.
I find myself often, missing relatives who are not here with us anymore. I miss conversations, deep and thoughtful. I miss shared laughs, and the pride they felt and showed. I understand, and comprehend their lives are changed, their eternal lives are more beautiful than I can imagine. But, I still miss them.
I sometimes shuffle around a bit in circles in my mind, feeling a little lonely, a little unsteady, and a little unsure of how to break the cycle.
And even at those loneliest points I take solace at the people in my life who are there. Their own lives keep us from day-to-day interface, but they are there, forming that net that will catch me, or us, if we were to fall. They weave a web through our lives that give us such confidence and gratitude, that I can only hope they feel the same way about us.
As we begin to get heavy into the preparations for Jeans for Rare Genes 3, it is a time to get focused. I am not a huge fan of New Year’s Resolutions. A wise friend recently reminded me a calendar is not necessary to begin change.
Choose positive. That is my simple focus. I will not be perfect at it. But, I will work tirelessly. I will be positive, hopefully not to the point of irritating, but when given the opportunity to face a new situation, I will work to find the positive.
Cowden’s Syndrome will toss us curve balls for the rest of our days. I’ve never been much of a baseball player, but I plan to practice my swing. And just in case- I’ll keep a helmet on as well.
May the culmination of 2016 lead us to gratitude for all the positives it brought, and gratitude for the negatives as well. May it leave us with the reminders of the blessings in our lives. Only in appreciation of al of it can we ever move forward. And really, forward is the only direction I choose to travel.
September is a marathon of sorts. Although all the training in the world can never quite prepare you for the twists and turns needed to navigate it through to completion.
September is establishing new routines, in my own classroom, and in our lives. September is learning new students, and new teachers.
Each year, it is about pushing our bodies farther than we have ever been able to. It is not just about surgical recoveries, or broken toes, it is about swim. So much swim. It’s about swim before sun-up, and afternoons too. It is about drama and singing and doctors in between. It’s about finding the inner strength to press on.
It’s about balancing it all. Work, school, after school, meetings, and the like. It’s about stopping to find the beauty, and the sunrise, and the simple pleasures along the way.
This life, this chronically ill life is lonely. I’m not going to lie, or even try to sugar coat it. It is lonely. But, we three in this house embrace and press on. Because, really, there is no alternative.
There is no fault, no anger, no resentment. Reality is that every moment is spent using all the “spoons” we have to get through. At this moment there are no extras. Family and friends who comprehend will still be there with open arms when there is a “spoon” or two to spare. The rest will have found their own way, and that is a loss we will have to take in stride.
Everyone has something. All lives are busy. All lives have joy, and angst. All we can do is take what is in front of us and do the best we can with what we have where we are.
The worry in my heart runs deep. There is reason for it, yet I battle it all the time. It can not, nor will it, define me, or our lives. Regardless, it lingers always, lurking in the shadows.
My girl continues to amaze and impress with wisdom beyond her years.
For her birthday Meghan had a very specific request this year. One of her gifts was, “The Unabridged Poetry of Robert Frost.” I was familiar only with one of his most famous poems. Meghan read this book fervently for most of August. I think I understand why now.
Lab work tomorrow to keep those thyroid hormones in check. We need our strength to remain
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!”
I love you ALWAYS,
“Count your many blessings, name them one by one…” Grandma used to sing years ago when we would complain about nonsense. She was a little tough sometimes my Grandma, and maybe that’s where I got it from. But, many times she was right, whether we listened or not. (Maybe that’s where I got that from too? ;-))
I like numbers. They are logical. They are what they are. In a world that often makes no sense at all, I find order in numbers.
Except sometimes I’m faced with the question of what to do when numbers become overwhelming in and of themselves.
This marks the 400th post on this blog. While it’s by no means a masterpiece, when I sometimes poke through old posts I remember so much of where we’ve been. It’s a definite roadmap of our journey, and Meghan and I take great pleasure when people from around the world reach out to us and cite the blog as a source of comfort and strength.
Cowden’s Syndrome is rare enough that it can be a lonely diagnosis. Being able to reach people the world over has been a victory for us, and them.
With over 170,000 hits on various posts I know we are getting the word out. Slowly.
I might have wanted to celebrate this post. I might have wanted to make it really special. But, I’m counting something else today.
Today was the 17th time I’ve gotten off the phone with the nurse, giving me pre-operative directions for my daughter. Today, I listened as I always do, reciting the directions in my mind before she spoke. Really my only interest was the time. The rest is routine. I want to stop counting. I want to just go with it. I can’t give you an exact count on mine anymore – because once you’re a mom, well, you just focus more on what’s important. And you become less important. And that is a gift, denied to many, cherished and appreciated.
Somehow though, if I stop counting for her, it makes her struggle feel less valid. The numbers give her strength. A badge of courage. Something concrete in this world of abstract.
My post last night was about “Patience”
And as I poked around the blog this morning I was taken back years, through so many similar posts.
Their similarities are uncanny. I guess the story doesn’t change much. Hurry up, wait, surgery, wait, recovery, wait, follow up, wait…
So I’ll leave this 400th post as unremarkable. Nothing has changed. Nothing will change. And that’s the precise reason we keep counting, and keep telling our story.
Tomorrow, surgery number 17. 9:15 arrival. As usual, prayers always appreciated.
#beatingcowdens 400th post!
High School Musical – We’re All In This Together
We make each other strong
We’re not the same
We’re different in a good way
Together’s where we belong
Once we know
That we are
And we see that
We’re all in this together
And it shows
When we stand
Hand in hand
Make our dreams come true…”
- 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population.
- If all of the people with rare diseases lived in one country, it would be the world’s 3rd most populous country.
- Source https://globalgenes.org/rare-diseases-facts-statistics/
We have wondered through the years what good could come of uniting forces for the benefit of all Rare Disease Patients. And slowly we are starting to see charities connect for the betterment of the big picture. The PTEN foundation has teamed with a patient with Duchenne Muscular Dystrophy, to raise funds to benefit both causes, and for those that remain undiagnosed.
Please consider supporting this cause. There is important work being done for all.
(FROM THE PTEN FOUNDATION FACEBOOK PAGE) Exciting News!!! We have a team of 12 sponsored cyclists that will support Ride4Gabe getting the word out about #Duchenne Muscular Dystrophy,#PTEN, and all Rare Genetic Illnesses with unmet medical needs. This is huge. You can help, please share this and our team go fund me link often. 1/2 of all proceeds will go to our PTEN Foundation.
THEY GET IT! They understand, “We’re all in this together…”
I was never a huge fan on Disney’s High School Musical. I’m not really sure I ever sat down to watch, and I likely judged without thinking. But I’ll be the first to tell you first impressions can be flawed. And I’ll also tell you that I ‘get it’ on a much more grand scale after last night.
For us it started with a friendship that bloomed between Meghan and one of the most compassionate young ladies I have ever met. They’ve known each other forever, but only in recent times have they come to know each other as “friend.” They spent time on stage together through middle school productions, and it was through this young lady we learned of a Summer Theater opportunity offered.
Welcome to the
Staten Island Children’s Theatre Association
We are a self-sustaining program sponsored by the Staten Island Mental Health Society whose mission is to promote positive mental health through the arts. We are currently celebrating our 52nd Season of bringing live theater to children and families.
Looking for a summer change of pace, and not knowing at all what to expect, I dropped Meghan off to the Snug Harbor dance theater where these forty-five or so 9-18 year olds would spend the next 8 days generating a full “junior” production. I walked into the back of the room for the parent meeting at the end of the first day, and I watched the children, and young adults, attentive on the floor. This was July. There were a lot of them. Their respect had already been earned by the staff. This was a “no-nonsense” set up. We received out parent information and as we left to head home, my girl said very little about the day. She told me she liked it though, and this was a big win.
Some of the children in the program were new, like she was. Others had been in the program for years. And somehow it seemed to not matter. Ages, genders, styles, personal interests, there seemed to be very few alienating factors. Everything seemed to be joining them together.
Each day pick up was a little smoother. Names were a little more familiar. Identities seemed a bit more well-established. By the time we came home last Friday, it was hard to imagine they had only spent a bit more than 24 hours together.
10-4 for eight days they sang, they learned, they laughed and they grew. They focused and learned that they needed to keep …
“Just keep ya head in the game
Just keep ya head in the game
And don’t be afraid
To shoot the outside “J”
Just keep ya head in the game…”
They became a team. They became a group of high energy youth, who each possess their own strengths. Instead of trying to outshine each other, they learned they would shine best together.
Last night before we got into the theater I looked around. I saw photos from the dress rehearsal, parents and children I knew from other walks of life, and family and friends there to support my girl. I am an over-thinker. I always will be. It was hard not to think one week from then she’d be, God-willing, on my couch recovering from another biopsy. But, that was not about tonight. Tonight was about #beatingcowdens by being part of a group, by being one of “them,” and by being on that stage in a very present way. So I cleared my head, and I watched.
Sneaking in a Proud Mommy Moment 🙂
I watched a play about finding your own identity, supporting each other, not being linked into your “label,” following your passions, learning trust, and forgiveness and so much more.
I never was a fan of “High School Musical,” until last night. Last night I realized that there was such a timely, deeper meaning.
Truly, “We’re all in this together…” and in the words of Ben Franklin, “We must all hang together, or most assuredly we will all hang separately…” It’s time.
It’s time we stop seeing labels, and who we think people are. It’s time we start learning who they really are. It’s time to start celebrating the good. Because there is much good to be celebrated.
On an island knee-deep in a very real drug crisis, hitting every single walk of life, I am filled with gratitude for SICTA, for giving children something to focus on, and for instilling a positive message of self-worth and deeper meaning. I can not name all the adults who touched my girl’s life this week for fear of leaving someone out, but YOU, YOU are leading by example. I am full of gratitude.
Life #beatingcowdens is riddled with twists and turns. You gave us a brief respite.
And, as the lovely young lady took Meghan from the steps of the theater and invited her to the diner “with the cast,” so many things came together.
“We’re All in This Together,” indeed. THANK YOU #SICTA
…over and over and over again.
Sometimes that’s the best way I can think to describe it. There are days, so many days, when it’s like a sucker punch that takes your breath away. It’s not going to knock you to the floor. You’re stronger than that. But, man, it knocks the wind out of you.
First, it’s the drive. The traffic. The hours spent headed to the appointment.
Then it’s the “hurry up and wait,” as you strive to be there for your 2PM appointment that COULD NOT be changed to later. Only to wait until after 3 in the waiting room.
After that it’s the news. No matter what the appointment is, a Cowden’s Syndrome appointment rarely ends with overwhelming optimism. Well, because they are all so unsure. So they are afraid. And I get it. But, then they tell you the parts they DO know, and you sometimes just want to sit in the corner and bang your head.
THEN after all that GOOD fun, is the drive home.
Usually all in all about 5 hours roundtrip. Whether it’s Manhattan or Long Island it doesn’t really matter. It’s 5 hours at a clip that you’ll never see again. Plus hours and hours analyzing…
About the only GOOD thing that comes from all these is the time spent chatting in the car. Because my kid is pretty cool, and I enjoy her company. I just wish we had more time to be together, at the beach, or a concert, or somewhere fun…
Today it was the orthopedist. He operated on Meghan’s knee in May of 2015. It was the 6th surgery on that knee, all ramifications of a pesky AVM (arteriovenous malformation) wedged somewhere under the meniscus. After the surgery there was PT, then a 6 month follow-up.
In November he released her from PT, and asked for another 6 months. In April he was so bothered by what he saw he brought us back in 2 months. He was troubled by her muscle spasms, and her generally being unwell. The conversation that day led us back to the hormone she was on after the December d&c, the one with the precancerous cellular changes. The medicine that was supposed to help keep the uterus in check. The medicine that seemed to come up an awful lot in April as the source of many problems. We labored over the decision and consulted almost every doctor, but ultimately decided to ditch the medicine and hope for the best.
Today the muscle spasms were gone. Evidence that they were caused by the hormone.
But, there was another pile of information to digest.
Sometimes it’s so hard, because you ask questions, and you just don’t always get the answers you want.
What about that right leg, will it ever match the left in strength? Do you think the foot will catch up?
No, it’s not likely.
Impact activities, even walking over a half mile, cause knee pain. Will this ever resolve? Can she do anything to help it resolve?
So, what do we do when we have to walk far distances?
And the conversation continued like that. He is actually quite well spoken, but today his words hurt.
He is a good doctor, a good surgeon too. But, he is honest. Necessary, And painful.
We got some suggestions for strengthening. And a script for a refresher with our favorite PT. Progress will happen. It will just be slower. It will take longer, and harder work than any of her peers.
We don’t use the word fair anymore. It’s all relative. Nothing is really “fair.” But, some days it’s harder to find the bright side than others.
Some days, even when the doctor tells you it’s not right that someone your age should have so many limitations, it doesn’t make it any easier to hear.
Because the reality is what it is. There is both gratitude and pain in the mobility she has. Her drive, her focus, extends beyond limitations. She wants to be free.
Yet, somehow even on the toughest days, I have solace that there is a plan. And it will continue to unfold for both of us.
Tonight we recover from a few sucker punches with chocolate cookies and coconut milk ice cream. Tonight is not for the bright side.
Tomorrow will be different. Tomorrow is school. Full of people who do not know, or who are virtually unaffected by the realities of Cowden’s Syndrome. And tomorrow is drama. And tomorrow is swimming. Tomorrow will be too busy not to press on.
Tomorrow will be for working on ways to keep moving forward.
Tonight will be for resting.
Tomorrow is for