Rare -ER? More Rare? Where to Begin?

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…
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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.
Just live. ❤

Until inspiration strikes again!
(Or I’ve got some unusual free time 😉)
Meghan
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#beatingcowdens  AND #hEDS…  I guess some updating may be in order…

Difficult To Work With

I am so tired of fighting.

All the time.

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.

Through God’s Grace alone we remain…

#beatingcowdens

Behind the Scenes…

We don’t post the awful pictures.  We leave out the ones where we look less than our best.  Social media allows us to live in the delusion that everyone’s life is “perfect.”

I’ll be the first to admit the ugly truth.  It’s far from perfect.  It’s not neat or clean.  There is no bow.  And yes, most of the time I do delete the awful ones.  Those images and experiences are seared into my soul.

I prefer to go with the theory that the body forgets pain…  At least your own.  It’s how we survive.  But, if you live watching a loved one in pain – you know the memory will not slip even a tiny bit.  If you hold your child as they cry out in pure agony, or when they are weak from fever, you can remember where you were each time.  If you watch your teen wince simply through a series of steps, or check to make sure they are breathing as they sleep the better part of two or three days at a clip – you don’t forget.

Recently, Meghan was in a production of “Beauty and the Beast Jr.” with the Staten Island Children’s Theater Association, Inc.  She loves the experience of working with a theater group and has been with this one a few years now.  It is such an enjoyable time in her life.  She spends months of Saturdays with genuine quality people preparing for the show.

Meghan as “Madame de la Grande Bouche”

And during those same months she is thriving academically.

And training for swimming.

And making regular appointments, routine, follow-up, and therapy.

And contending with seasonal allergies that are nothing less than relentless.

And, she is, every single day a person living with Cowden’s Syndrome and the effects it has on her, both physically and emotionally.

The show was almost 2 weeks ago.  It took me a little bit to get my thoughts together.

I think I have it now.

Living with chronic illness, chronic pain, chronic life altering physical ailments, is in some ways similar to putting on a production.

You set your sights on what you want to accomplish – large or small.  In some cases it’s going to a party, and in other’s it’s going to the backyard.  But, you plan for it.  You practice it.  You consider every detail.  You may have to select the right costume and even stage it so you don’t sit or stand for too long.  You know just what your body can do and there is a short window where you have to make it all work.

The rest of the time you are backstage.

You are in pin curls and shorts with a tank top.

You are rubbing your feet.  You don’t have make-up.  Backstage and rehearsals, these are what life is made of.  But, we don’t take the camera out while we are there.

Everyone’s preparation is different.  I can only write about ours and confidently say everyone has some level of preparation before the “show”.  Some people make it onto the stage more often than others.  Some people have fewer performances, but make them count as much as they can.  Those people take nothing for granted because they have no idea when they will step out into the “stage” again.

That’s what social media looks like to me, anyway.  Every picture is on the stage.  Some have more than others.  But, because of the world we live in it is easy to judge based on what we see without considering what we DON’T see.

The night of the show Meghan went to the diner with her friends.  She got home close to midnight.  It was Sunday, and a school night, and I had already decided she’d stay home the next day.  It wasn’t a reward.  It was a necessity.  The amount of energy her body had expended could not be recovered quickly.  She slept until 2pm the next day, and was asleep again by 9.

I sent her to school that Tuesday – ready to roll.  She swam at 5am, did a full day of school, an hour of physical therapy and another 2.5 hours of swim practice.

Probably not the best plan.

The physical therapy is in place to try to strengthen her overall.  Joint laxity, ligaments subluxing… all sorts of cracking, popping and shifting.  The search for answers is on, but in the mean time we do PT…

By Wednesday she couldn’t move.  She made it to school – barely.

Her IEP meeting was that afternoon, and we had lengthy conversations about all sorts of physical and emotional needs relating to school.  We also spoke at length about the service dog we are in a holding pattern waiting for, and how he will fit in to the big picture.  So many questions…

Thursday we got in the car to go to school.  By 7:30 I had her back in her bed.  She just could not.  She slept until early afternoon Thursday, followed it with and early bedtime and slept again until early afternoon Friday.  There was a little less sleep as the days went on but it was a slow process.

The show that was so incredibly worth it in every way – cost her a full week in recovery time.  Her body hurt so deeply.  This is not an out of shape child.  This is a person living with a chronic pain and illness that is affecting her body in ways not even the doctors fully comprehend yet.

But I didn’t post pictures of her wincing in agony, or sleeping for days.

To the outside world she doesn’t look sick.  She’s 5 foot 8, full of muscle and extremely well-rounded.

She works hard at it.

Some days are easier than others.  But every day she works.  She is fierce and relentless and she does not quit.

Next time you catch a photo of her smiling or singing in a pretty dress know that it took a lot of staging to pull that off, and there will likely be a lot of recovery on the back end.

But, she wouldn’t have it any other way.  Not for a moment.  She is my inspiration to remain…

#beatingcowdens

 

The Carousel

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.”

I will hold on tightly and remain

#beatingcowdens

 

 

Normal People Stuff

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.

Just one of the many stories this week outlining a possibility. That’s where it begins. With someone saying it “could” be. 

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…

The dog hair and I will be here until then….

#beatingcowdens

 

“I am the Lorax, I speak for the trees.”

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.

Dr. Theodore A. Atlas Biography

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.

Teddy Atlas Biography

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.

Teddy Dinner celebrity line-up

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’s possible…

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.

It is possible because I live it.

And it doesn’t have to make sense to anyone else.

Today it’s really just about my own brain.

And those are my random thoughts…

#beatingcowdens

#thisisfortyfive