When we started this journey I never would have chosen this path for you. I never would have selected a life of hospitalizations, tests, rare diseases and pain. I would have chosen an easy life for you. But, I didn’t get to choose.
And, maybe that’s better. Don’t get me wrong. Everything that you have endured is overwhelming. I wish I could take it away. But, this adversity and these struggles, they have guided you as you have become a young woman I could not be more proud of.
This has been a twisty and winding road, and we are still only at the beginning.
Since you were very young you have had an unimaginable determination to accomplish whatever you set your mind to. You never cease to amaze me.
From the days of Early Intervention and CPSE Speech/OT and PT, you just never quit.
You decided early on that you would do well in school. And you exceed any expectation I’ve ever had. You continue to seek classes because you genuinely want to learn new things. You want to be your best self.
You have always had the heart of an athlete. You tried every sport you could and constantly had to reroute due to pain. Then, you landed in the pool. The pain there is pain you can manage. You are continuing to set, meet, exceed and reset goals. Despite some seemingly insurmountable physical obstacles, you are an athlete.
You are deeply principled, a trait that has made you the young woman you are becoming. It also makes me want to scream out loud some days. Sometimes balancing socially was a struggle. You look for the good. You make your decisions based on the heart of the people you are with. You would not compromise your beliefs. You had patience. You have friends now who love you for being “fiercely yourself.”
You have faith. You believe in a God who loves us all. You believe in GRACE and forgiveness, and even though you haven’t had a traditional church upbringing, I am proud of the questions you ask, and your desire to learn. I am mostly proud of your heart.
Every day you are growing, stronger, wiser, and more confident. Every day you are seeking out ways to improve. You are constantly reflecting and growing.
No one outside of our home can fully understand this journey. And while having TWO rare diseases I think may give us magical unicorn status or something, there is no one I’d rather have to traverse these trails with.
I could go on forever. My heart spills over with love when I think of the young woman you have become. I am full of anticipation and excitement about where the journey will lead you.
Know that forever and for always I will always be your biggest cheerleader and your most vocal advocate. Know that I love you to the moon and back times infinity. FOREVER!
Remember – sometimes we don’t get to pick our path. Yet, if we open our hearts we can make the bumpy roads the most meaningful.
I love you more – ALWAYS
Happy Sweet Sixteen! Enjoy the day!
xoxo
Mom
And if you’ll take a bit of motherly advice – most of it can be found in these three songs….
A new diagnosis came our way this week. On top of the existing one. I have wavered between frustration and relief. I have felt some questions answered and developed a lot of new ones. My girl got her words together before I did…
My name is Meghan. I am a 15 year old high school student. I just finished my second year of high school in a place I love. I am an A+ student, who loves to learn. I am in all honors classes. I strive to learn and grow as much as I am able. I live, laugh and love. I hang out with my friends. I lay outside and tan. I take my dog for walks. I swim for a competitive travel team where I work my butt off in the water 6/7 days in a week. I improve. I grow. I train. To anyone who only knew me superficially, it’d seem like I was living the dream. I’ve got a couple close friends, good parents, a nice house, a dog who loves me. It’s perfect. Right? Wrong.
Here’s the other side of my life most people don’t know; I’ve got some shitty genetic luck. Because on the inside, I am far from an ordinary high school student with the perfect house and parents.
I was diagnosed with my first- yes that’s right, my first- rare genetic disorder when I was eight years old. By then I’d already had so many surgeries it was hard to keep count, and a bunch of random medical problems that never seemed to add up. That disorder is Cowden’s Syndrome. It’s a mutation on the PTEN gene that causes benign and malignant tumors, increasing cancer risks and letting things pop up all over my body that hurt like a mother.
I’ve lived with this disorder my entire life. Hospitals, waiting rooms, specialists, MRI’s, and every other extremely uncomfortable medical situation you can think of became my life. To date, I’ve had 18 surgeries, multiple procedures, over 30 hospital visits, and 25+ MRI’s that have put wayyyy to much metal into my body. From countless medical traumas I’ve developed PTSD, anxiety, and depressive disorders. What doesn’t help that is the fact that I’m always in pain. I fight every damn day. I fight to live my life, and to get my body to the levels that others can reach with half the effort.
Now here’s the best part, so I’ve got a crazy smart mom, who wouldn’t stop poking around to figure out the other piece to this puzzle. Because, we both knew Cowden’s wasn’t it. There was something more, because this debilitating chronic pain in a relatively healthy 15 year old, plus other random symptoms that just didn’t add up, had to come from somewhere. So, we went back to my geneticist. And, guess what? We BOTH got our SECOND rare genetic diagnosis. hEDS( the hyper mobile sub type of Ehlers-Danlos Syndrome). Fun, right?
I know it’s a lot to write at once. It may seem crazy to anyone else who lays eyes on this post. But guess what? One very valuable life lesson I’ve learned from living this life is to stop giving so much of a damn what other people think.
My Grandfather told me many years ago that I was “difficult to work with.” He said it with love. I don’t remember the exact context. I do remember it was said with a smile.
And he was undoubtedly right about that, like so many other things.
I had a boss a few years back that told me, “If you continue to hold everyone to the same standards you hold yourself to, you will always be disappointed.” Strong words, but also not inaccurate.
I am a lot to take.
I am intense almost all the time. I have a mouth full of words that last long past the attention span of anyone I strike up a conversation with.
I am passionate about things I believe in.
I make lots and lots of mistakes. But, I truly do my best all the time.
So I just sometimes struggle to understand why it seems everything I touch or encounter is a battle.
I spend hours upon hours sorting through medical claims. I look up who paid what, and when. I call on bills that need to be refiled. I take names on post-it notes with dates and times, in case things don’t get rectified.
I file out of network claims, and then I watch them processed in error. I make three phone calls to try to sort out the change in policy, which was simply just a mistake no one will own. I take names again. I am told to wait 6 more weeks for hundreds of dollars owed to me to be reprocessed. It’s only a little about the money. It’s mostly about the notebook, and the folder with the copies of the claims, and the alarm in my phone to remind me when I need to follow up on the call again.
I send medication to the mail order pharmacy because we have no choice. And then I wait for them to screw it up. That sounds negative, but it’s simply accurate. They have an entire notebook in my world to help manage the 9 mail away prescriptions between us. There is a perpetual box on my ‘to do’ list which tells me to check on the progress of any refill.
I make appointments. The list has 20 specialists between us. They vary from twice a week to once a year. A psychologist once told me not to let the appointments interfere with “preferred activities.” So there is a matrix with the impossible task as the ultimate goal. Except none of the 20 doctors know about the other 19. Or the full time job. Or the high school honor student’s schedule. Or swim practice. Or theater. Or voice lessons. Nor do they care. And I get it. They can not hear everyone’s story. So when I call to try to carefully place that appointment in a very tiny window of time, they are always unhappy with me. They think I’m being unreasonable. And maybe I am. But, I can’t imagine why I wouldn’t TRY to get everything to keep her physically healthy and still let her be a teen.
I deal with unexpected schedule changes. Like when I carefully stack 2 appointments in one day, and then one has to move to right smack in the middle of a week long summer internship that was planned forever ago, because now instead of two doctors with Friday hours at the same facility, one has Monday and one has Friday. No overlap. So I erase, and juggle. Except I’m not great at juggling in a literal sense, so one got cancelled and hasn’t been rescheduled. Actually two… because summer can not be ALL about doctors. Nor can every day off. But, neither can every day at work or school…
“What do you mean you’re not going to reschedule today?”
So much of our condition relies on screening. Early detection is a blessing. It is the key. It is also tedious and time consuming. It is possible to be grateful and overwhelmed simultaneously.
So much of this is case management. And, when last I checked my master’s degree is in education, not medicine. But, with no one to coordinate care I have to guess a whole lot. I have to decide if 9 months will be ok instead of 6. I have to decide when to push the doctor for more lab tests when the fatigue won’t quit and the thyroid is ok but the spleen…eh, no one is quite sure about the spleen…
And there are doctor’s whose pride won’t let them return a call because I haven’t seen them recently enough.
There is the genetics appointment lingering again. Because maybe Cowden’s wasn’t the WHOLE answer…
And the “normal people stuff” like the seemingly never-ending root canals because my stress is played out in the jaw clenching that overtakes the episodes of sleep. That is on the occasions everything is calm enough for me to make it to my bed.
Or the foot injury. The “rare” lisfranc ligament partial tear. Close to 6 months later. Not a soul wants to hear me tell the story again. No one wants to believe that it still hurts badly enough that I haven’t take a real walk since last fall. I’m not lazy. I’m horrified by the state of my body in the absence of real physical activity. I am trying to be patient. My patience is running out alongside my sanity.
And the IEP. Oh, the Individualized Education Plan… and the meetings. Over and over and over again… Meghan is on the waiting list for a service dog. She has PTSD and generalized anxiety disorder. The dog is coming. The process is wearing me out.
I am a lot to take.
I am often “difficult to work with.”
I hold myself and others to a high standard.
I am intense most of the time.
I am tired.
I am so very tired of fighting all the time.
There is no choice though. No choice at all.
So, in the mean time I will be here. Strengthening my resolve. I may bend, but I will not break. I will continue to strive to show my girl that she can have a rare and currently incurable disease, while excelling at school, at sports, being active in the community, and being a generally decent human.
Last month we walked out of a screening appointment. It was not critical. It was an hour behind. We rescheduled. Also a valuable lesson.
I am tired of fighting, but I am far from done.
As my Grandfather said, I am “difficult to work with.”
I am also loved. I am flawed. I am also forgiven.
When I have no more, I put my hands together and ask… and I am never disappointed.
Life is very much like a carousel… you must hold on tightly. It will not stop until it is over…
I always heard about the body changing every seven years. I never gave it much thought.A quick Google search brings a couple of interesting articles.Every Seven Years…
This has been on my mind a lot the last few weeks. I’ve never been one to spend New Year’s Eve wishing a year away, or blaming one for my misfortunes. However I do have a rock solid memory for dates, and 2012 is a year I will never forget.
Digesting our PTEN diagnoses from the fall of 2011, 2012 began with thyroid biopsies for my girl. It was the year of risk assessment and triage for us. In February there were breast and neck MRIs for me and another in a long string of embolizations for an AVM in Meghan’s knee. In March came my prophylactic double mastectomy that showed DCIS on pathology. In May of that year came my hysterectomy, as well as breast and an external pelvic ultrasound to assess my then 8 year old. In June she had another thyroid sonogram as suspicion of her nodules increased. She also had an MRI to assess the progress the embolization made on her AVM. Insert recovery times, and “normal people stuff,” and that took us only to the end of third grade.
In the summer she had kidney and bladder ultrasounds, and an MRI of her pituitary gland. I added an abdominal MRI to baseline hamartomas that to this day have continued to slowly outsize my spleen itself. That MRI was repeated in November, and we ended the year with an uptick in concern about my girl’s thyroid.
Things have not really calmed down since then, and I have never counted surgeries and procedures from 2012 alongside any other year to see if it truly was our most medically active, because by all accounts the year you spend trying to process this diagnosis is the longest one ever.
Over time we have adapted to our lives, dancing in between appointments, carefully trying to schedule doctors and surgeries around life, and not the other way around.
Its a valiant effort. Sometimes I am successful at it, and sometimes it is an epic fail. Regardless there is no alternative but to keep pressing forward. Adapting and changing.
Sometimes the adaptations make us stronger. Other times they make us more efficient. I am not sure the impact of the adaptations on emotional health. I am focused on not letting this diagnosis take away my life. I am determined to live my life in spite of it. But, sometimes I do wonder. I keep in touch with virtually no one. Unable to make plans for the likelihood they will need to be cancelled or changed. A deep fear of not being able to hold down a non-medical conversation reverberates through my soul.
So as I was hopping around on the crutches this morning it occurred to me that it is now 2019. It is seven years since the epic 2012. This year is shaping up to be one for the record books.
It is hard to tease apart the Cowden’s from the “Normal People Stuff,” because at this moment life seems to be a bit of an all-consuming medical drama.
That confuses people who see me smiling through the day at work with a large boot attached to my left foot for well over 6 weeks. It makes people I run into at the mall think all must be well. I smile. Most of the time. Frowning gives you uglier wrinkles.
Today was to be the day the podiatrist freed me from the walking boot. Instead he told me to trade it for crutches in the house. The boot is starting to hurt my knees and my hip. My foot is simply not ready to be full weight bearing. The partial tear is not healed. In fact it seems no better, if not worse than when I fell at work on January 8th. The delay in diagnosis caused by a denied MRI likely made things worse.
I was given names for a second opinion, and cautiously handed a script for PT, which cautions the potential therapist to be “NOT TOO AGGRESSIVE” with my foot. The weather is getting warmer. My pleasure comes from new sneakers and long walks…
Simultaneously working the juggling act with a few other issues, I have seen just about a doctor a day for the last week.
Fortunately my daughter’s brain MRI for lesions being watched for the last year was gloriously “unremarkable” on Tuesday and I am grateful for the little things – because they are the GIANT things.
My ENT was perplexed, as most doctors are. The hearing test was normal. The fluid that I feel was not visible to him as it had been to the other doctor. He spent a good deal of time listening. He decided he would offer me a tube to drain the ear with an anticipated 5% success rate. (No thanks) and an MRI of my head which would show the ear. He said he was 99% sure the MRI would show nothing. Then he corrected himself to say he was 99% sure it would show nothing in the ear… but I should anticipate incidental findings that will likely need follow up. Whatever. Brain MRI with Cowden’s is not a bad idea anyway. MRI tomorrow.
My thyroid labs, after 3 weeks on the new medication regimen indicated the need for another change. I’ve been having heart palpitations, and the highest blood pressure reading of my life. I’m awaiting the arrival of the new dose, and setting up the next blood appointment, all while wondering if this is an exercise in futility as it looks like the rest of my thyroid will need to be removed in the not so distant future. My partial thyroidectomy was in 1993. Clearly the body keeps changing.
I had a routine bone density screen on Weds. I also went for my abdominal sonogram to monitor the spleen. It’s a 45 minute ultrasound that requires 4 hours of fasting, but checks the spleen hamartomas for growth, while evaluating the liver and kidneys. Except it was done in 6 minutes.
Apparently there is a drop down menu somewhere when you order an abdominal ultrasound. I think the first item is Aortic screen. The “Complete” that I needed was a few clicks down. I’ll need to reschedule. But, I am looking forward to hearing the random screen I didn’t need was “unremarkable.” Results pending…
I am a different person than I was 7 years ago. We all are I suppose. If you evaluate your life in 7 year increments, you will definitely note changes.
The question is, will you be happy with them?
I am stronger. I am more fit. I am more confident in my knowledge. I am less drawn into drama.
I am also less social. I am less knowledgeable about world news, and more knowledgeable about rare diseases. My attention span is shorter. I am easily distracted. My brain is always on. Sometimes I catch really important things. Other times I torment myself…
I am introspective and honest.
Happy is a relative term.
I’ve spent a lot of time watching Netflix. More than I ever have. I picked up Grey’s Anatomy and keep hearing Meredith quote her mother.
“… But the carousel never stops turning. You can’t get off.”
Two weeks of as much rest as I can possibly stand.
The trouble with having a rare disease, as I’ve said so many times before, is that you ALSO have real life. You ALSO have “normal people stuff.”
After that early January fall, I was quite consumed with my shoulder, and pretty bothered by the flippant attitude of my breast surgeon. All of which still stew inside of me as the real possibilities of breast implant associated illnesses are all over the news this week.
And then there was the new endocrinologist on March 12th. It was a backwards progression of sorts. A referral from the surgeon who has been following me since my PTEN diagnosis. I never really settled into a new endocrinologist after I disagreed with my long standing one in 1998. He was bothered by my questions. I bounced in and out of a few. I found them mostly arrogant and out of touch. I held with one during my pregnancy in 2003, but ditched him soon after my C-section. I had a primary running bloodwork, and I was guiding treatment based on my labs until the Cowden’s Syndrome surfaced.
At that point I was handed off to an endocrine surgeon. The possibility that the half of my thyroid which remained after a partial thryoidectomy in 1993 could fall into the 35% lifetime risk of thyroid cancer that comes along with a PTEN mutation was real. We agreed on annual follow-ups using the ultrasound in her office. All was smooth until February 26th, when she saw some calcifications on the ultrasound. She got spooked and wanted a “fresh pair of eyes.” She referred me to an endocrinologist in her hospital.
He sent me for a “proper” ultrasound before my appointment. He then, with some promising knowledge of what a “Cowden’s” thyroid looks like, went through the images from the exam. He told me that there were some potentially concerning features, but nothing that appeared urgent. He questioned why I had not been using the formal ultrasound at the hospital, as there was now no baseline to compare it to. In another episode of wondering why I don’t ask enough questions about my own care, I had to let it pass…
He told me the radiologist would read the ultrasound with more concern than he did. He was right. So there will be another ultrasound in August. We’ll talk about the status of that right thyroid lobe then. In the mean time he offered me a change of medication that in 30 years on Synthroid no doctor has ever entertained. Monday I will begin a lower dose of Synthroid combined with a twice a day dose of T3, liothyronine, in hopes that I might get some of my sought after energy back. With a standing order every 3 weeks to monitor blood levels, at this point, I have nothing to lose.
So back in circle to the “normal people stuff” intertwined in this balancing act. April 18th is still the earliest day to contend with the chronic ear pain and fluid I’ve been handling since September. It doesn’t matter that it has headed into my mouth and is bothering my teeth. That it is somehow messing with the nerves so badly that I ended up with a root canal specialist yesterday. Of course, she won’t touch the painful tooth because no one can know exactly what is in my ear. Pain management. Maybe it’s Cowden’s. Maybe it’s allergies. Maybe it’s simple. Maybe it isn’t.
And then there is that foot. Snagged on a kids chair in a third grade classroom in the middle of teaching a lesson. It knocked me on the floor. I was so worried about the shoulder, and the breast implant that I ignored the foot. At least I tried to.
About 2 weeks after the fall I saw my primary and asked for help. She suggested an MRI. GHI promptly denied the MRI and told me to ice and elevate as much as I could, and reevaluate in 6 weeks. I was left with no choice but to continue a job that kept me more hours on my feet than off. By March 6th I couldn’t take the pain anymore and headed to a podiatrist. He evaluated the foot, ordered Xrays, and got them read within hours. By the next day he had the MRI approved and I went in for the exam. About 72 hours later I got a call asking me to come in to discuss the results.
That’s never an actual good sign.
So when I walked into the office in two sneakers, I kind of suspected that I wasn’t going to leave in both of them. And I was right.
MRI revealed a partial tear of the lisfranc ligament in the left foot. Apparently this is an incredibly rare injury, (insert shock and surprise here) that the podiatrist anticipated before the MRI. Apparently you can only get this injury through a twist and fall, you know, like catching it on a student’s chair mid-step.
I got a soft cast, and a giant walking book. I got pulled out of work for at least two weeks, with no idea when the good people who review these cases will approve this as the clear work-related injury it is.
I have another appointment with the podiatrist tomorrow.
There is State testing at work this week. I’m always there for testing.
But right now I’m actually testing my inner strength. Resting my foot.
I’m preparing for my clearance to return to work. I’m preparing for my ENT appointment. I am preparing to get my ear fixed. I am preparing to get ready to lose the other half of my thryoid. I am preparing for another plastics consult…
And all the preparing in the world won’t matter. Because life will come in the order it wants. That is the lesson for Cowden’s Syndrome and real life…
Thursday, February 28th, 2019 is World Rare Disease Day.
There was a point close to forever ago when that meant nothing to me. I had never even heard of it.
Our initial Cowden’s Syndrome diagnoses came in the fall of 2011. Meghan got her’s first, and mine followed soon after. 2012 held the most insane whirlwind of medical and surgical experiences we have ever known.
By the time Rare Disease Day came around in 2013, we had begun to feel the need to raise awareness of our PTEN Mutation causing Cowden’s Syndrome. Even though we were grateful to have each other, to be 1 in 200,000 can be isolating.
At the time my girl took to the Global Genes Project and learned all she could about rare diseases. She was most struck by the reality that many children diagnosed with rare diseases don’t live to see their 5th birthday. She promised she would always try to speak, not only for herself, but also for the “littles” who couldn’t tell their story.
In 2013 she spoke at her school and at mine. We handed out denim ribbons, and started opening eyes.
In 2014 we stood together, as she was a student at my elementary school. She created a video, we did a fundraiser. There was something empowering about sharing knowledge.
Rare Diseases as a whole are common. One in ten people suffers with a rare disease. Yet, there are over 7,000 rare diseases and each carries with it it’s own specific challenges. More than 350 MILLION people suffer from a rare disease, yet it takes 8 years on average for a diagnosis. https://globalgenes.org/rare-facts/ In the interim, so many people trudge through the day to day challenges alone. Typically there is no one to relate to their experiences, and even the best intended friends and relatives often tire of the chronic nature of a disease that won’t ever leave.
Raising awareness became a mission of Meghan’s to help people become more compassionate and kinder towards each other. We have always worked with the understanding that “everyone has something,” and the more we learn empathy and compassion, the further we will get.
Meghan’s early days of speaking in schools, and creating awareness videos evolved into “Jeans for Rare Genes” a fundraiser involving friends, family, and the community. There have been 4 so far, each one different than the ones before, but all helping to raise funds and awareness for rare diseases.
In December 2013 the PTEN Hamartoma Tumor Syndrome Foundation was born, through the blood, sweat and tears of Kristin Anthony, and with a village, it is growing into a helpful, guiding light in our community. And, finally Meghan has found the focal point for the fundraising!
(check out some of the links below for some of our journeys)
Through the years my girl has been honored as a New York State Woman of Distinction, the youngest ever, in 2016.
She was awarded the “Humanitarian Award” at the Teddy Atlas Dinner in November of 2018. She has racked up close to 20 surgeries in her young life, and yet she has managed to remain a scholar and an athlete.
Lives now forever intertwined. Kristin Anthony celebrates Meghan’s honor with us.
Celebrating Rare Disease Day is sometimes like going to the worst party ever. Or, maybe it’s the best. I guess it depends on how you look at it. We’re here… stronger. The community is growing. Support exists. Hope exists.
Last summer we were contacted by Aldo Soligno on behalf of the “Rare Lives Project.” He had worked on this project in Europe and had had much success raising awareness to the government about the lives of people with rare diseases. We were touched to be asked to be part of his American pilot of this project. And, while it has not received the funding he had hoped, the release of this summer’s photos on social media has been therapeutic for both of us.
Here are some of the picture released to date. Photo credit Aldo Soligno.
Please follow “Rare Lives” on Facebook, Instagram, and Twitter to help them raise awareness of all rare diseases.
We are perched in exciting times. It is a time to reflect, to gather strength and resolve and press forward.
This year I know more people with Cowden’s Syndrome, and more people with other rare diseases. We are allies and advocates. We are parents, sisters, brothers and friends.
This year I hold close in my heart a friend’s little one, waiting on her diagnosis. My heart feels their anguish. My faith tells me their help will come.
There are still struggles. Plenty. But, before telling those stories it was time to remember from where we came.
One thing will not, and has not changed. We remain forever
The call came to my cell phone on a Friday afternoon a few weeks ago. It took me a few minutes to process that Sharon from the Teddy Atlas Foundation was telling me Meghan had been selected to receive the Dr. Theodore A. Atlas Humanitarian Award. The award is named for a local physician who epitomized the concept of what it meant to be a physician through more than a half century of people centered care on Staten Island.
I knew of Dr. Atlas, who did most of his work before my time, because I followed the work of the foundation, started by his son, Teddy Atlas Jr. The Dr. Theodore A. Atlas Foundation is a name known to locals who are inspired by stories of people helping people. I had watched this foundation through the years, grateful that people who genuinely want to help are not afraid to just do it.
I know I stumbled, and may have sounded like a bumbling fool as I asked her to repeat herself. “Yes,” Meghan will accept gratefully, I replied without asking. I was given the date and time for the dinner.
I’m not sure either of us really grasped the enormity of the honor until we looked up the event on line.
We had just struggled to get 100 people in a room for a fundraiser. Here they were looking at close to a thousand – from big names to community favorites.
When she learned she’d need to give a brief acceptance speech, she took a deep breath, and then thought. A whole lot.
We talked about humanitarian, as a word and as a concept. The more we bounced it around, the more we both knew the concept suited her. Meghan has always wanted to make a difference. She has always done what she can to speak for those who can not speak for themselves. She is not sure what her future career will be, but she is sure that she must know she is ‘helping.’
We talked about quotes. I gave a few suggestions. She came back to me with Dr. Seuss. She nailed it. As usual.
The Lorax speaks for the trees. They can not speak for themselves, so the Lorax advocates for them. It resonated with her.
Here is Meghan’s speech:
Good evening, I am extremely humbled and grateful to be standing before you tonight.
When I was 7 I never thought my life would turn out this way. I never thought I’d be accepting a prestigious humanitarian award. When I was 8 and my life was turned upside down by a diagnosis I didn’t understand, I was in shock. By the time I was nine, I realized that no one even knew what my disease was. Then I realized that if I didn’t do something, there was a chance no one else ever would.
Cowden’s Syndrome is a mutation on the PTEN Gene, a tumor suppressor gene. Because of this disorder I have extremely high cancer risks, and grow a lot of tumors. I am in the hospital being poked and prodded on a regular basis. I am constantly scanned and monitored. Every time I step into a doctor’s office I am holding my breath, praying that I will get even just two more months of peace, without a procedure. I am 15, and I have had 18 surgeries. This disease has tried to break me over, and over again. And, because of this, with each passing day I become more determined to overcome these challenges, win my daily battles, and lend a helping hand to others in need.
I am living the life of a rare disease patient. I am closely acquainted with the downfalls and struggles of my disease, and others. Because of this, I am fully cognizant that there is very little awareness about rare genetic disorders. Some of these disorders are fatal, and others can just make your daily life torturous.
My disorder specifically is sometimes classified as an “invisible illness.’ No one sees my scars and my struggles because I don’t ‘look sick.’ I present as a healthy and intelligent teenager. When I was little I used to wish all my scars were able to be seen, and that they were all over my skin. I thought that maybe people would start understanding what patients like me go through a bit more if they saw some of the ramifications of these diseases.
Cowden’s Syndrome has not just impacted my body. There are undeniable, severe mental ramifications that have come with my struggles. I have a depressive disorder, an anxiety disorder, and PTSD secondary to medical trauma. In no way am I even close to normal. I have to fight ten times harder for what someone else can do physically. I struggle mentally to live a normal live and get past the anxieties that control my daily life.
I have been bullied since elementary school there are some days where I come home, curl up in a ball and cry. It’s really hard to make friends when you’re at the doctor so much, and it’s even harder to deal with teenage drama when you’ve had to act so much older then you are your whole life. Whether it’s been because I’m different and they don’t understand, or because I catch on to things quickly, I always find myself that kid with the target on my back for bullies.
People like to say to ‘not let your hardships define you.’ Personally, I think that’s idealistic and impossible. The events that you have gone through in your life have created who you are. Sometimes I wonder what life would be like if I did not have this rare disease. Then I shake myself out of it, and realize that I’m a pretty cool person who has the ability to change lives. And, that if I didn’t have Cowden’s Syndrome, I wouldn’t be growing into the person I am.
My mother and I host annual fundraisers called “Jeans for Rare Genes.” They started out with all of the profits being donated to the Global Genes Foundation, a 401C3 organization that raises money around the world for the purpose of providing support to patients with rare diseases. Then, the PTEN Foundation, an organization specifically devoted to patients with PTEN Hamartoma Tumor Syndrome (Cowden’s Syndrome) was born. Once this organization was created, we began fundraising for them. To this day, our annual fundraiser is one of the biggest donations that goes into this organization and I am proud to know that our work is making a difference.
There are less than 2,000 diagnosed Cowden’s Syndrome patients in the US. Sometimes it is hard to see the light at the end of a lonely tunnel. The PTEN Foundation is close to putting up a patient powered registry that will start things moving in the right direction. We have a long way to go. We need funding for research, and then we need medication and hopefully a cure. There is far too little awareness about Cowden’s syndrome and all rare diseases in general. They are very real, and very present in our society.
This honor will serve as a stepping stone for me. My awareness efforts are not nearly done. In fact, I view this as a new chapter in my life, where I will have the confidence and courage, needed to continue raising funds and awareness, and that I may hopefully be a part of changing the lives of other rare disease patients.
In the words of the Lorax in the famous Dr. Seuss book, “Unless someone like you cares a whole awful lot, nothing is going to get better. It’s not.”
With the number of people who care in this room tonight, I look forward to a future of hope and promise. Thank you.
The speech ended with Teddy Atlas committing $5,000 to the PTEN Foundation on Meghan’s behalf.
It made me extra glad that Kristin, the PTEN Foundation President, who has become a dear friend, had made her way to New York from Alabama to celebrate with us.
Yesterday, November 15, 2018, NYC was almost totally crippled by an unexpected snow storm. In all of my years here I have never ever seen anything like it. I have seen worse storms, but NEVER the crippling state of things I saw yesterday. I left work to get Meghan at school at 2:20. On a busy day it takes me 22 minutes to arrive at her school for pick up. At 4:10, after crawling for HOURS and getting so close, I was being pushed up a hill out of a pile of snow. I was in such a state, feeling frantic that I was literally not able to get to her. And even though I knew she was safe, it was a helpless feeling I’m not looking to duplicate any time soon.
November 15, 2018
At 4:15 she sat in my car while we turned around to head back. At 5:35 the 8 mile round trip was complete, but we weren’t out of trouble. Three hours on the road and I never saw a plow or a salt truck.
My parents agreed to drive in their very capable pick up truck. My husband made it safely off the bus from Manhattan. It was far from the poised and put together departure I had hoped for, but we got there.
I’m not going to lie, there were a few moments there where I thought, “WHAT THE HECK? Why does EVERYTHING have to be surrounded by drama?”
But I pulled myself together. There are far bigger problems in the world. We made it. We were safe. We were together. Meghan’s dear friend greeted us there. I looked around and soaked up the enormity of the honor my 15 year old was receiving.
I looked around the room full of energetic, generous spirits.
I looked in the booklet on the table and found this. Despite a few minor errors, the idea that this was published here. Now. For everyone. Well, it kind of blew me away.
I listened while Ciaran Sheehan sang, with chills down my spine. Having played leading roles in two of Meghan’s favorite Broadway shows, “Les Miserables,” and “Phantom of the Opera,” he was the one she wanted to meet. And she did.
My girl is not perfect. She struggles. We argue. She sometimes acts like a teenage girl and I have to remind myself she is one. She is intense. She is focused. She is determined. She is deeply principled.
She is learning to find balance. She is learning to laugh. She is learning to pause. To believe. She is letting herself be successful. She is working daily on becoming the best version of herself. She is my hero.
And Meghan, as one of the “trees,” I am happy to have a “Lorax” like you.
Because as Dr. Seuss said, “Unless someone like you cares a whole awful lot, nothing is going to get better. It’s not.”
You are way more than
#beatingcowdens
You’re going places kid. And I’m so grateful to be along for the ride.
It is possible to have conflicting emotions and have them all be true.
It is possible to feel so tired you wonder how you will function, and simultaneously grateful for the very things that made you so tired.
It is possible to be full of angst about a schedule that just will not quit, and fully excited that your child is capable of outrunning you. Finally. I waited a long time to be more wiped out than she is!
It is possible to feel worried about this week’s pending orthopedic appointment and the news it may bring, while gratefully celebrating your child’s swimming medals from the week before.
It is possible to have anxiety about when the next surgical procedure will come, while gleefully extending the number of days it’s been since the last one to record setting lengths.
It is possible to have a deep unshakable sadness on certain days, months or even seasons, while still appreciating the best daughter and husband ever.
It is possible to feel like having and loving someone with a chronic illness leaves you in shackles, while every day being grateful for them and time you have to hug each other.
It is possible to live with people who literally complete your soul, and still sometimes need time with other people. Just because.
It is possible to feel lonely in a full house by the design of your own head and not the people in it.
It is possible to be a pit bull advocate for your child, while wishing you could be a happy yellow lab and get the same results.
It is possible to really want to spend time with friends, but to posture as if you’re too busy so as to protect yourself from inevitable schedule changes and conflicts without having to say “no” again and again.
It is possible to want to talk, but to realize you haven’t much to say that isn’t about topics too tough for casual conversation. (Note to self – try to watch more TV.)
It is possible to have such a deep understanding of the rare disease plaguing you and your child that you are sometimes terrified of the path you will need to travel. It is possible to be terrified, while full of gratitude for the warning system and vigilance that will allow that path to be long – together.
It is possible to know the road in front of you is still arduous while looking back and simply saying, “Wow, we’ve come SO FAR!”
It is possible to fully understand the reality that life is uncertain for EVERYONE, while processing the gravity of a rare, cancer causing genetic disorder.
It is possible to love the ones your with, while still deeply missing so many of the ones that have gone before, some even decades before.
It is possible the mail order pharmacy uses a dart board to determine their policies each time you call.
It is possible the hospital actually does have BOTH insurance cards in the computer in the right order, and they are just messing with you.
It is possible that the china closet may just not get cleaned and washed for the holidays, and that for the first time you may just be ok with it.
It is possible that the entire holiday shopping list will be handled on line, because those are the hours that work for me.
It is possible that some days, weeks, and months leave you with more conflicted feelings than others.
I’m aware of Breast Cancer. As a survivor now of 6 years and the daughter of a 21 year survivor, I am aware as I dry from my shower facing my mastectomy scars every morning, that breast cancer is reality. As my Facebook feed and my memory are both too full of those we have lost and those who still face this disease, we are aware. What I wonder, is how much help is the awareness? It is a topic that could be debated forever, but I’ll change gears first.
Something else I am very aware of is the PTEN gene located on chromosome 10q23, and the perils its associated mutations can cause. So when the PTEN Foundation let us know that 10/23 was designated PTEN Awareness Day, we were all in.
This blog has, for years been designated to the ups and downs of this mother- daughter duo dealing with Cowden’s Syndrome, the diagnosis we both received in late 2011 after a PTEN mutation was first diagnosed in Meghan, and weeks later in me.
The few years following were an absolute whirlwind of appointments, scans, screenings and surgeries. We worked to keep our heads above water and just exist. We considered keeping my job, and maintaining honors status in her school quite the accomplishment.
We were told things over and over, like “don’t let it define you…”
I’ve got some news for you. You can only walk so far into the fire without retaining the scars.
True awareness of PTEN for us comes with comprehension of the gravity that you have to remain in a vigilant stance of preparation, awaiting attack from your own body at all times. PTEN patients have ridiculous cancer risks pretty much all throughout, and the VIGILANCE required to stay ahead is utterly grueling.
We are faced with choices to keep the most high risk organs, or remove them prophylactic ally. We are asked to play the odds. With our bodies. All the time.
With Meghan the AVM (Arteriovenous Malformation) in her right knee, though quiet now, has caused damage she will deal with forever. She is 15. God willing she will walk on those legs another 80 years, each day aware of the pain, and of the symmetry removed from her body forever.
When you have to be vigilant, you have to plan. There are trades. You have to decide if you’ll miss school with friends and fall behind in classes or give up the breaks designed to recharge you.
There are no breaks. February – months away has 3/5 of its break and 2 other days devoted to appointments. Martin Luther King Jr. Day in January. Yep – that one too. Don’t worry, the brain MRI is scheduled for April break….
You have to pick and choose. And the decisions are hard. You want to give it all to everything, but HOURS of your world are wasted in bumper to bumper traffic, waiting for the hopeful news that you have another 6 months before you come back. And if, in fact you don’t get that news the schedule is tossed and it’s game on for scans, analysis and biopsies.
The pain. No one can really tell us yet from why, but it seems to exist throughout. The fatigue. Maybe the thyroid issues, maybe some immunological stuff. Maybe some connection yet to be determined. But it’s real.
It’s as real as the number of times we had to decline invitations before most people stopped asking.
We’re not blowing you off. We’re holding it together – by a shoestring.
Chronic Illness is hard to live, and we get that it’s difficult to watch. But, it’s real. And short of a cure, it will never “run it’s course.” It will not BE us, but it will be PART of us – FOREVER.
“You don’t look sick…”
“You don’t look anxious…”
No, as a matter of fact she looks strong and determined. She’s been practicing for quite some time.
Sometimes I have to bite my tongue to keep from replying, “You don’t LOOK ignorant either – but at least you can fix that if you WANT to…”
Our rare disease journey has opened our eyes to not only PTEN disorders, but “Lhermitte-Duclos disease,” “Nail-Patella Syndrome,” “Lynch Syndrome,” “Spinal Muscular Atrophy,” “Muscular Dystrophy,” “Neimann- Pic Disease,” ” Neurofibromatosis,” “Acute Myeloid Leukemia” to name just the very tip of the iceberg. I am more aware than every that everyone struggles.
I’m also a big fan of real pure awareness, for the sake of learning something about other humans I share the planet with.
One of the humans I share my home with has grown up in a totally different direction courtesy of this disease. And while I am grateful for her diagnosis, as it surely saved my own life, I am sad that she has had to see so much, and manage so much already in her life.
So today, on 10/23, if you’re not living with it yourself, direct yourself to http://www.PTENFoundation.org, or the PTEN Facebook Page and learn an little more about PTEN.
My own girl is working every day to make herself better, physically, mentally and emotionally. When I have down days, or I just don’t feel well, she reminds me to forgive myself. “You have it too Mom.” Indeed I do, and it’s quite a ride…
“Prep for the Climb” Disney’s Hollywood Studios
Together we prepare for the climb each day – and seek out that ‘One Perfect Moment’
For as much as this disease has taken, I am grateful that she is starting to take back control, and is finding her voice as an advocate for herself and others. (And I love listening to her sing too…)
#Beatingcowdens
Bring It On the Musical – One Perfect Moment Lyrics
2012 Broadway
Bring It On the Musical – One Perfect Moment LyricsI’m not freaking out, I’m really okay
I’m totally chill or I will be someday
‘Cause I’m so near the top but there’s so many mountains to climb
There are plans to be planned, drills to be drilled
‘Cause this dream that I’ve dreamed is becoming fulfilled
And I plan to enjoy it but right now, I don’t have the timeFade in on Campbell, an average teenager almost grown
Close-up on average grades from the average life she’s known
Now zoom in the lens on the rest of her friends as she stay alone
Doing the work, getting it right
‘Cause I know we’ll have to be practically perfect
So I’ll go above and beyond and pull through, this I can do
All that I’m asking is one perfect moment in time
I’m seventeen, there are so many things that I can’t control
If I start to freak, or feel weak, I focus on just one goal
Turn down the panic, attack this routine like it owns my soul
Turn up the music so loud that it swallows us whole
And then there we are, we burn like a star
We’re safe inside the world we know
Then suddenly I’m in prep for the climb and here I go
High in the air, there is a moment just before you start to fall
Live in that one moment
I know that if I can just stick the landing
Then I’ll know that somehow my life will be fine
And I’ll go through the rest of my life understanding
What it feels like to shine
The future’s full of mysteries
So please let this be mine
My one perfect moment in time
Recently I asked that Meghan’s “Present Levels of Performance” on her IEP be updated. She no longer receives many services, but I find great value in keeping this section current.
There is a great deal of misunderstanding involving Individualized Education Plans (or IEPs) and many people feel only children who struggle academically have an IEP. This is just not true.
My daughter has had one in place since Kindergarten. She has consistently maintained high honors, and as a matter of fact was Salutatorian of her 8th grade class, and is in an intensely challenging International Baccalaureate program at her high school.
IEPs by definition, are to “Individualize” the Education Program as needed. Meghan’s needs are not academic, as much as they are residual connected to the Cowden’s Syndrome, the PTSD, and the medical trauma. The resulting anxiety affects every area of life, and is far deeper than “teenage angst.” We work extensively outside of school to address this in many ways, but sometimes we need the school to be on the same page.
Much like you give a medical history to a doctor when you see them for the first time, and you update as situations change, the IEP is to be fluid and updated as changes occur so all personnel will be aware of Meghan’s needs.
I make a habit on the first day of school of copying a few key pages of the document and giving it to her teachers. Even though they have access, and technically it is their responsibility, I am also a teacher. I get the pressures placed on us. So, I make their lives easier by giving them what they need and an invitation to reach out to me with any questions. Her teachers are historically receptive and appreciative.
This year I was reviewing that section on the document realizing how much was no longer accurate, and how it should be more detailed.
I sat with Meghan to write the summary below:
Meghan is a 15-year-old sophomore in the IB program at School. Academically she is consistently above average in her classes, attaining high honors every marking period for the 2017-2018 school year.
She is a student athlete as well, participating on the School varsity swim team, as well as Trident Aquatics, a 12 month competitive swim program on the Island.
Meghan has several medical diagnoses. The most far-reaching is “Cowden’s Syndrome” a mutation on the PTEN (tumor suppressor) Gene, causing benign and malignant tumors as well as vascular malformations. Recently PTEN mutations have been correlated with low levels of (infection fighting) immunoglobulins, which Meghan also suffers with.
Because of the low immunoglobulin levels Meghan has frequent infections that often require antibiotics for resolution. She suffers with gastrointestinal distress with each course, and needs to avoid gluten and soy. She also has an allergy to dairy.
Meghan’s medical challenges are far-reaching. She has had 18 surgeries, 8 of which have been on her right knee. There was an arteriovenous malformation (AVM) in that knee. While it has been controlled, the long-term effects will last forever. Meghan has leg and foot discrepancies on her right side. The blood was restricted from flowing to her right foot for so long, that it stopped growing 6 years ago. The left foot is a full size larger than the right foot. That right-sided weakness has been repeatedly treated in physical therapy, but still presents as a struggle with stairs, and long walks. While she endures these activities, they can cause pain and excessive fatigue, and extra time may be necessary between classes located far apart.
Meghan had her thyroid removed in 2014 and the resulting need for synthetic medication has yet to be regulated. Her current endocrinologist follows her 4 times a year, adjusting, tailoring, and trying to balance her levels.
Meghan had 2 D&C procedures during 7th grade. Those procedures yielded precancerous tissue in her uterus and prompted the need for birth control pills to try to stop the cellular growth. Those pills have also been difficult to regulate and balance.
Meghan has been hospitalized countless times in addition to her surgeries. She has also undergone over 30 MRIs and close to 10CT scans, each requiring IV. She spends countless hours being poked and prodded at doctors, monitoring her cancer risks. She is acutely aware of her mortality at an age when most teens are barely aware of their social interests.
In the spring of 2017 Meghan was diagnosed with Post Traumatic Stress Disorder, secondary to extensive medical trauma. She was also diagnosed with major depressive disorder.
In the fall of 2017 Meghan began to develop panic attacks. Subsequently, she has also been treated for panic and generalized anxiety disorder.
She sees a social worker weekly and has guidance on her IEP in school. She sees a psychiatrist monthly who manages the medication, which currently consists of and antidepressant and another script for panic attacks.
The panic attacks were well controlled for a time, but flare up in acute anxiety. This summer saw several severe episodes. We are working together to help her through all of this.
Meghan is waiting for a service dog, which should arrive in the next 4-6 months, to address the PTSD. In the mean time, we are teaching strategies to deal with necessary stress, and tools to eliminate unnecessary stress.
I presented this document to the team to update the IEP. I was a little startled when I was met first with a challenge on the diagnoses. No problem I told them. I would send the doctor’s notes.
I love her school, I do. But, I was in fact also told “She doesn’t LOOK sick” and “She doesn’t LOOK stressed.” While I had to breathe a few times before responding, I came up with “You’re welcome…”
We’ve worked quite hard on all of that. My girl has goals. Life goals.
Last week Meghan was approached to remove the section regarding the D&Cs from the document above. She declined. She was pushed, and told the information was “far too personal.”
Forever practical, Meghan reminded them the document was about her, and should include factual information.
Again pressed, she reminded the staff she helped write the document they were holding. She wanted and NEEDED her teachers to understand the validity behind her anxiety and PTSD symptoms.
The final time they told her the information was too personal she reminded them that she had done nothing wrong, and had nothing to be embarrassed about. Meghan is a factual child. She likes actual truth being reported. She knows better than to be embarrassed about truth. She knows ugly truth is a real part of life with Cowden’s Syndrome. She also knows that secrets give power to things that don’t deserve it.
These things happened to her.
She did not ask for them.
She did not cause them.
She will not hide them.
She will not apologize for them.
She will not let them define her.
But the things that happen to us do change us. HOW they change us is the only thing we can work to control.
I will continue to work the Mom end to get this updated.
I am beyond proud of her growing confidence, and her desire to educate.
I am proud of her desire to be a scholar and an athlete in spite of all the adversity.
I am proud of her respect for the clock as she grows as a swimmer, and her desire to be the same as everyone else, by beating the same clock.
My girl is, and shall remain
#beatingcowdens
And that is why we continue to work on the journey towards treatments and a cure.
Please consider joining us or making a contribution. You can reach us at jfrg.pten@gmail.com
beatingcowdens 