No Excuses. No Apologies.

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

Double Edged Sword

I remember as a young girl, and even a teenager, having the phone pretty much attached to my ear all the time.  I remember being so excited when we got a cord long enough for me to bring the phone into my room.  I remember calling people, and being so frustrated at busy signals.  I don’t remember much of what I talked about for all those hours, but I liked it.

When I went to college, I went with an electronic typewriter with a 4 line display.  It was state of the art.  In my dorm there were computers in the common area and people were just beginning to really Email.  There were no cell phones.  We knocked on each other’s doors and spread word through friends when we were getting together.

It’s now been 23 years since I graduated from college.  I’m coming to understand the generations before me.  Perhaps some of the discontent with things changing was a foreboding sense of where it was leading.

I don’t go far without a cell phone in hand.  I “google” like it is my full-time job.  I’d rather text than call, and I am guilty of putting only the “perfect” images on my social media accounts.  I “keep in touch” through photos of friends children.  Some of these children are teenagers now.  Many of them I have never even met.

I wish “Happy Birthday” on Facebook after it reminds me, and rarely send a card.  I delude myself into feeling “in touch” when really we’ve lost all track of each other.

I’m watching a generation grow that thinks its acceptable to post all kinds of photos of themselves, inevitably trying to look older than they are, in a forum where nothing is truly private at all.

I’m not saying we had it all correct by any means.  I was guilty as the next of trying to impress “popular” kids, or to fit in.  There were mean kids.  There were those who isolated.  We passed notes.  But, we didn’t post our comings and goings for the world to see.  I was blissfully unaware of who went where, unless I was there.  If we took photos it was the real deal.  There were no filters.

The internet, and the social media craze that has followed is the proverbial “double-edged sword”.

Living with, and having a child with, a rare genetic disorder means I have to do most of our research here.  Most doctors lack the time, the knowledge, or the desire, to entertain my instincts.  I may not be a doctor, but I am an expert on Meghan.  I have been able to learn through trusted medical journals and intelligent internet connections, more than I would have ever been able to learn 25 or 30 years ago.

Meghan has had medical problems since day 1, and I have had the privilege of advocating for her since then.  I have “met” parents through online support groups, and have soaked up their advice like a dry sponge.  Parents go out of their way to help other parents, and it is a community like no other.  Without the internet I would have been traveling this journey largely alone.

There were multiple diagnoses before the PTEN Hamartoma Tumor Syndrome (Cowden’s Syndrome) diagnosis in 2011.  And, truth be told, I suspect there are still a few more coming our way.  During each step of the journey I have been able to connect with medical professionals and parents in ways that leave me forever grateful.

I am skilled at dealing with the insurance companies, the mail order pharmacy, and the collection agencies.  I am on-line so often, printing medical explanations of benefits, or fighting for treatment courses that I know are necessary.

I have become well versed in the laws surrounding Individualized Education Plans, (IEPs) and have secured necessary accommodations for an honor student battling PTSD largely from the fallout of a rare genetic disorder.

We fund raise for the PTEN Foundation, in hopes of one day soon allowing a patient powered registry that can lead us to treatment, and maybe even a cure.

All of this is possible through social media and the internet.

These are the same forums that allow people to think they are “in touch” without ever hearing each other speak.  These are the same forums that allow teens and adults alike to think it is ok to be insufferable or mean because they don’t have to look the other person in the eye while they do it.  It is these same forums that claim to bring us all together, that are causing what I fear is irreparable social damage.  A generation of children who aspire to impossible ideals and feel they are not good enough, are growing up.  They have the world at their fingertips.  Will they have the skills to access it through human interaction?

I don’t know what it is like to live anyone else’s life.  Maybe there are similarities, or maybe my views are odd.  I blog to give an honest account of life in this house, with these challenges, because I too have found comfort in knowing I am not alone.  At least theoretically.

I am always busy.  Sometimes I don’t choose it, and sometimes I choose it without realizing it.  I am so used to being in motion, not having a full agenda is confusing.  It is also very very rare.  My only speeds are “go” and “off”.

Chronic illness can easily run your life.  When every ounce of strength must be used to create the illusion of normalcy, there is not much time to be “normal”.  When you can not predict the health crises that exist daily, or the new ones that crop up at a moment’s notice, it is hard to make plans to do much.

We are a family of 3.  My child is an only child.  She has all the benefits, and all the downfalls of that status.  We have extended family.  I have friends.  Long time friends.  Old friends.   I know I could rely on them if it became time to wave the white flag.  But they are busy too.  And our time will come in a few short years when our children are off on their own.

My child does not have a built-in network.  My child has PTSD, and incredible anxiety.  She can sometimes have an abrasive personality.  But, she has more integrity and compassion in her than just about any other human I know.  You can’t pick any of that up off her Instagram. Or her SnapChat.  To really know her you’d have to talk to her.  The old-fashioned way.

That very network that has allowed me to learn so much, to do so much, and to help so much, has also caused harm.  For both of us.

For me, it represents the easy way out.  Aside from a few support groups, I know people will tire quickly of hearing the same story over and over. So, it is easy to click “like,” post a few comments, and have at least a visual in my head of what’s going on.  But, it also leaves me with feelings of inadequacy.  Why can’t I get us to the beach?  Why can’t I plan day trips with actual humans without fear of having to cancel?

For her, it is a constant reminder of a “normal” life that she doesn’t have.  Whether it’s pain, medical appointments, food allergies, or anxiety, there is an isolation inherent in this world of chronic illness.

She speaks of the “Sword of Damocles” with regularity.  The history channel gives this explanation History Channel- Sword of Damocles (Go ahead, and click the link. It’s a worthwhile read.)  This analogy explains a life hard to comprehend, and impossible to describe.

The internet probably saved us.  Social media brought me to some of the smartest parents, living variations of our life.

Social media altered the scope of human relations with consequences we will see for generations.

The irony of it all perhaps is that this message reaches you through the double-edged sword of the internet.

I’m interested in hearing your comments.

We remain

#beatingcowdens

With all it’s “side effects”

One day at a time…

When you reach the end of your rope…


There is no other choice really.  We must hang on.  We must always hang on.

So often this is easier said than done.

Last weekend I stayed up all night Saturday digging out from under a pile of nonsense on my desk.  It was regular stuff that I had let pile up.  It was junk.  And it was medical bills.

There were 7.  Not explanations of benefits, but actual bills.

I am fortunate to be fully capable of paying my medical bills.  The part that is so often a struggle is sorting out WHICH bills NEED to be paid.  Between Meghan and I we are at at LEAST 2 appointments a week.  And that is a really good week.  Some are close, and some are far, but they are still blocks in our daily calendar.

I try to remain very organized about where we were on which day – but it is a formidable task that sometimes gets away from me.  Both of our insurance companies have moved to electronic storage of claim status, which is really helpful.  Except for my husband’s, my secondary, which won’t allow me access to my records, in some twisted HIPPA attempt to protect me.

But, I digress.  It was about 5 AM on Sunday and I was tired but pleased.  I had pared down the pile and was left staring at these bills.  I sorted, cross referenced the bills to processed claims, and printed what was necessary.  Only one of the 7 was for something I actually owed.  The others were clipped with notes to assist me when I got around to teaching people how to do their job billing when there are two insurances.  When I could combine the energy with time to spend on the phone, during business hours, while working a full-time job.

I was ready to leave for the grocery store by 6:30 AM.  I am grateful for the stamina that allows me to pull that off every once in a while.

I got to thinking about it though, and its been on my mind all week.

We seem to have a good handle on #beatingcowdens.  But, really the day-to-day living with it is not for the faint of heart.  It is that day-to-day that is wearing on me.

We are, my daughter and I, the “healthiest looking sick people” you’d ever want to meet.  I am grateful.  I am lonely.  I am tired.

One thing blurs into another.  Someone asked me how I was spending my weekend, and I replied, “trying to return to zero.”  I think she thought I was nuts.  I have long passed hope of relaxation or socialization.  The schedule is so insane that the weekends are for getting it all re-set.

It’s not all bad.  Some of it is swim practice and theater- normal teenage runs.  I don’t mind those.

And even though our physical therapist, and our chiropractor are lovely, I would prefer to meet them for a social call than so often at their offices.  The orthopedist is a delight.  So smart, and so personable.  Yet- visits every three months I could do without.

Every step seems hard.  I have the unshakable sense that not many people do their job with integrity or pride.  There is so much energy getting through each day, that the residual battles over copays and forms can sometimes be too much.

It seems that any variation to the tightly planned schedule which balances practice and appointments (often layering many things into one day at precise intervals) sets off a chain reaction that is hard to recover from.

Which brings me to the problem of when things go off track completely.

The ‘Lymphangiomas’ on my spleen were first found in 2012 after my diagnosis.  They were an incidental finding during the many screenings I underwent during that time frame.  They were to be monitored via ultrasound.

They grew.  A bunch.  And they keep right on growing.  Annual ultrasound monitors their measurements.  Currently there are at least 4 of them and they are bigger than the spleen itself.

You may not remember, but in November I drove myself to the Emergency Room when I was concerned about this very same spleen. November Post- “You Might Have Cowden’s Syndrome if…”

It held on then, and I was released.

The most recent ultrasound was in April.  One of those lymphangiomas grew a centimeter in 2 of three directions.  That’s quite a bit of growth.

They are benign.  They are vascular.  They are growing.  I am not.  We are battling for space.  I am stalling on the inevitable.

I know exactly where my spleen is.  I can trace it at all times.  It is not painful, but really annoying.  I’m trying not to let it bother me.  Its kind of like a friend who will soon be moving away, forever.  I will miss it when its gone.

I’m used to surgeries that send me on my way in hours.  This one seems a little more dicey.

The oncologist said, “It’s not cancer, so we’ll deal with it when you’re symptomatic…”

This week I met a new primary care doctor.  She was fine.  I’ll need her for pre operative clearance.  Lesson learned during the February surgery debacle was to have a “primary” available.  I have a great deal to teach her.  Maybe she will want to learn.  At least she will be able to complete necessary paperwork so someone can check their boxes.

Checkbox with green tick

She examined me, and then the area where my spleen is housed.  She was confused as to why it is still in my body.

She had a suggestion for a doctor.  I asked if she knew a surgeon.  Her plan was to send me to a gastroenterologist to see who he thought I should go see.

Like I said, she’s got a lot to learn, and we don’t have time for unnecessary stops.

I found the surgeon I want to meet.  I read all about 15 surgeons from 4 hospitals.  I want  to try him first.

I sent an email to my oncologist to see who she recommends.  Not only was I not thrilled, I was more sure that I want to meet the one I picked out.

Last week the hospital that manages my care wanted me to see a genetic oncologist.  I called for an appointment.  They wanted my genetic testing.  Then they told me I would see a counselor first.  I explained there was no way I was spending time with someone who knew less about my disease than me so they could tell me about the effects of the diagnosis.

Nope.  Double mastectomy.  Hysterectomy.  About ready to lose my spleen.  Kid with 18 surgeries.  I’ve got this.  It’s relentless.  I know.  And I have no time to be told again.

So, the appointment I was requesting was with the “director” and there are “steps”.

Not to sound too arrogant, but I don’t need anyone I have to jump through hoops for.

I sent an appointment request on-line to the surgeon I want to meet.  He deals with abdominal tumors all the time.  Of course, not splenic lymphangiomas, being that this article says there are only 189 cases from 1939-2010! But, he spends his life operating in that area.  He’ll be my guy.

From – http://www.archivesofpathology.org/doi/full/10.5858/arpa.2013-0656-RS?code=coap-site

And if he’s not – I’ll find another.

I’m not sure when, but I know in my heart it’s not if anymore.  This has been the long goodbye for my spleen.

Now the plan is to get it all set up on my terms before it becomes a medical emergency.

Game on.

Tick tock.

I’ve got a really strong knot at the end of my rope.  I’ll climb back up.  Until then, I’ll just hang out right here…

#beatingcowdens

 

 

Dear Meghan… Mother’s Day 2018

Dear Meghan,

Almost 15 years ago you entered this world kicking and screaming.  You scared the heart out of us, the doctors, and the nurses.  The NICU nurses called you “Miss Attitude”.  Even in distress that August day you showed them all you were not to take anything without a fight.  You made me a Mom under the craziest circumstances, and looking back, maybe they were fitting.  How could we know back then, when we were discharged, a few days later, and all of NYC went black in the blackout that no one will forget, that was just the beginning of all things epic?

I look at you now, taller than me, beautiful and smart, athletic and talented, and I burst with pride.  You are good in your core.  You are pure in your heart.  You hold yourself to a fiercely high standard, and you hold others there too.

We’ve long passed the point where summarizing your history is easy, or even practical.  Truth is, most people’s heads would explode to hold inside the medical journeys we’ve taken, and the emotional bumps and bruises along the way.

You made a decision many years ago, that your struggles would be only part of you, and that they would NEVER define you.  You want to achieve, and you do achieve, in spite of your struggles, and not because of them.

Most Magical Moment

Facing your teen years with the cloud of Cowden’s Syndrome always hanging nearby is daunting, to say the least.  You possess knowledge, statistics and realities about your own body that no one your age should have to try to understand.  You have more memories of trips into and out of operating rooms than most people would ever know in a lifetime.  You have been held down, poked, prodded and examined so many times, even I sometimes try to forget.  You have been through Physical Therapy and rehabilitation so frequently that we have the numbers for multiple surgeons and the best PT in the world, saved into speed dial.

Before you were 11 the threat of cancer stole your thyroid, and as normal teenage hormones kicked in, yours were just a bit more complex.  Precancerous cells in your uterus before the age of 12 necessitated more synthetic hormones, and your body… sigh.  Beat up and abused, no wonder it gets annoyed.

The PTSD (Post Traumatic Stress Disorder) diagnosis was not a shock, rather the exclamation point on the end of a very long sentence.  Before the start of the next paragraph, in what will be a very long story…

The struggle to deal with it takes place mostly behind closed doors, and most people would have no idea.

You just keep going.

It’s not a sprint, it’s a marathon.

The longer, and harder the battle, the more determined you become.

You excel at school.  You continue to make strides at swim.  You are learning to use the beautiful voice you were gifted with.

You are my pride, my privilege, my daughter and my friend.

You have strengthened my resolve.  You have helped me fine tune my “Mamma Bear”.

You have helped me learn self-restraint when I have had to allow you to handle things on your own.

You have helped me become a better human.

Sometimes, my dear, I want to scream, as your stubborn, rigid, principled self, clashes with my “I want to fix it” attitude.  And yet, I count myself lucky in this day and age to have a daughter who is so sure of her principles that she will not bend to the whim of the crowd.

I wish for you the ability to find joy and laughter.  I wish for you, to be able to smile among the good people you meet, and allow them into your world.  I wish for that the  kind souls you meet are able to understand that there is more to you than initially meets the eye.

I want you to know that you are good enough, and that you are enough.  Yet, I want you to remain hungry and goal oriented and kind and compassionate too.

A wise woman (your grandma) once told me, you do more changing in your 20s than you ever do in your teens.  You will continue to grow and learn and change, and develop your personality.  Set your goals, meet them, exceed them, or rewrite them.  Life is fluid, and full of change.

No matter how hard things get, never ever lose HOPE, and NEVER GIVE UP.

You gave me a beautiful necklace today.  The compliment of being referred to as “Wonder Woman” is about as high praise as a mom of a teen could ask for.

If I possess those qualities they are because of you.

We will continue to take this long journey.  The road will never be smooth.  But I would take no other path if it meant traveling without you.

Together we remain #beatingcowdens.

Thank you my dear.  Thank you for allowing me to be part of your world.

Thank God for selecting me as your mother.

Love you always,

Mom

 

 

Triage- A Way of Life

Triage.  The word hangs with me like the memories of countless Emergency Room visits.

Triage. Take care of the most serious first.

It’s the reason we might wait hours for stitches, and barely a moment for a trauma.

I get it.  It makes sense in the ER.  It also makes sense on the battlefield, or in other places where there is widespread injury to be treated.

The thing is, you typically don’t stay in those places FOREVER.

Places we equate with triage are not places of comfort.  And that’s where this life with Cowden’s Syndrome can get tricky.

You see, lately I can’t shake the feeling that life is triage.  24/7/365 damage assessment, and handling the most critical first.  Vigilant.  Hyper-vigilant.  ALL.  THE.  TIME.

When you live with a chronic illness, a syndrome that causes cancer by its very definition, it is so easy to get wrapped up in monitoring and preventative care.  And then there are the times that you go for those monitoring appointments and they require their own follow-up.  This condition can easily morph into a beast that can swallow you whole.

And we’re at it times 2.

What I refuse to allow this syndrome to do is take away any more from my daughter’s life  than it has.  To the best of our ability, she will do “teenage” things, and she will do things she enjoys.

But, lately that has become quite the juggling act.

I am monitored twice a year by endocrinology (post thyroidectomy), my breast surgeons, and dermatology.  I am monitored annually by gyn oncology, and oncology.  This is post-bilateral mastectomy (stage 1 DCIS) and post hysterectomy.  I am monitored every 5 years for colonoscopy.  I am also monitored with abdominal ultrasounds for 4 hamartomas on my spleen, and a cyst on my kidney.  This may not seem all that impressive, but those are just the appointments if everything goes well.  That’s not additional scanning, blood work and biopsies.  None of them are close to home either.

Not to mention, I am still searching for a local primary care doctor.  In addition, there is dental work, both routine, and the emergencies the stress from grinding my teeth keep causing.  I’ve been referred to another oncologist who specializes in genetic diseases, and I need to get in to see her.  I just completed vascular surgery, with its pre and post op appointments and recovery as well.

That’s just me.  Me, and my full-time job.  And, like every mother, my needs are not the most important.

My girl sees endocrinology twice a year.  She is still, 4 years post-op, trying to get thyroid function balanced.  She sees gastroenterology, and dermatology twice a year.  She also sees an adolescent gyn twice a year, courtesy of precancerous tissue already uncovered in her teenage uterus.  She sees a chiropractor every 2-3 weeks for pain management.  Right now, amid diagnosis of the small brain tumors, she is seeing neurology every three months for new MRI scans.  She sees orthopedics every 8 weeks.  They have been monitoring her knee for years, and recently stubborn tendonitis in the shoulder.  There have been a few MRIs of late.  She has seen physical therapy weekly since the fall, and is now working on twice a week.

She is tired.  Partially because of her schedule, and partially because of her sleep patterns.  Despite a regular bed time, she struggles to get quality sleep.  It is hard to turn her brain off, and for her to get rest.

She has developed Post Traumatic Stress Disorder (PTSD) and anxiety, secondary to consistent medical trauma.  She is working through it – but, like everything else, it is a great deal of work.

She is awaiting word that her service dog is ready.  The call could come any time in the next 6 or so months, but we are hopeful this dog will help her through what can be some trying times.

She is an honor student.  She is a swimmer – at least 5 days a week, for 12-15 hours a week.  She is in weekly vocal lessons, and a theater group that meets 3.5 hours a week.  She enjoys a local church youth groups.

She has food allergies – restricted from dairy, gluten and soy.  And seasonal allergies to all things pollen.

None of this includes normal things.  Like dentist and orthodontist visits, or even haircuts.

It is easy to get isolated.

She has a strong sense of what is right and wrong, and can be rigid in her perceptions.  But, life has shown her things most adults, let alone people her age, have ever seen.   Just as that strong mindedness flusters me, I refuse to try to break it down.  It is that same will that has gotten us where we are.

And where we are, is in TRIAGE.

My iphone calendar is with me everywhere.  I prioritize swim and theater over doctors when I can.  Physical Therapy is a high on the list right now for pain management and strengthening.

Vocal lessons keep her going, as she can sing herself through a lot of stress.  Theater is just a fun group of children, and I am not willing to sacrifice that.

I have a list by my desk of “next up” appointments, and because our availability is so limited, I am often booking months out.  We travel to most – NYC or LI.  Short on miles – but up to 2 hours each way – often.

We stack them when we can.  Two appointments are a bonus, three is a banner day.

And every year about this time I dream of a summer light on appointments.  I’ve yet to see it come true.  Truth be told, almost every school holiday and every vacation is cluttered with things we need to do, but would rather not.

There is a blessing in knowing what we are fighting.  There is blessing in having a warning system in place.  But, there are still some days when I’m totally overwhelmed that I wish I didn’t know so much.

Triage.

Triage means that right now the physical and emotional health of my teenager trumps all.

So she swims 5 days.  We do PT 1-2 nights after swim. We see “other” doctors midweek on the one day there is no swim.  We do voice, and theater on Saturday.

I make my appointments on weekends when my husband can drive.  I make my appointments a year out so I can stack three in one day in the summer and on February break.  I schedule our surgeries for February of Easter vacation when I can.

I plan our fundraiser now for October, so as not to give it up, but in hopes of finding an easier time.

I research at night.  There is always a need to learn what most of our doctors do not know.

I write, when I can.  I love it and I miss it, but time just doesn’t seem to allow.

Hair, nails, eyebrows, and things I used to enjoy are forced into holes in the calendar, every once in a while.

Dust builds in places I never used to allow it.

Friends, well I have to trust they get it and they’ll be around when there is a change in the current status of things.  I miss them.

Triage.

It starts early in the morning, waking up a teen who just hasn’t slept well.

It continues through the day – my job and her school.

After school is all about making it work.  Swim, PT, or whatever therapy the night brings.

There are often phone calls, requests for lab reports, or battles about IEP needs…  Emails go through the iphone.

Usually we are out of the house about 13 hours.

At night we pack everything so that we can be ready to begin again.

Triage.

Most critical right now is allowing my teenager to find her way, in school, in sports, and in her life.  Most critical is giving her very real scenarios where her disease does not define her, and she is able to achieve in spite of her challenges, not because of them.

In order to make this happen, everything revolves around her schedule.  There are opinions about that in all directions.  There are people who would tell me I am creating an entitled, self-absorbed human.  I don’t pay them much mind, because they haven’t met her.

When I signed in to be a parent I knew I’d be all in.  I just never saw THIS coming.

Balance needs to always be in place, where the physical needs of either of us are never overlooked.  However, non-essential appointments CAN, and WILL be scheduled around our availability.  She will be a happier, and more tolerant patient when she didn’t miss something she loved with three hours in traffic and two in the waiting room.

Triage is meant to be something you experience briefly in times of crisis.

The “fight or flight” response is not always supposed to be on.

But it is.

At this time in our lives we may not always make for stellar company, although ironically, we’d love to have more of it.

At this time, we may say no constantly, to the point where you stop inviting.  Trust me.  We’d rather go.  We actually enjoy your company.

At this time, we are so busy surviving, and taking care of the most critical needs, that anything not immediately essential gets passed by.

We are constantly evaluating order of events, but TRIAGE is fluid by definition.  Unfortunately there are so many situations and scenarios, it is hard to see through them all.

Even at our toughest times.  Even at our most overwhelmed days.  We can look around and find our blessings.  They exist in big things, like being able to physically attend 5 practices a week, and little things, like being able to WALK around the school without hesitation or assistance.

We are aware of those suffering illnesses far beyond our grasp.  We are aware and we are grateful for the health we do have.

We are also tired.  And lonely.  And often overwhelmed.  We also know this is the way the plan must go for now.  And one day it may change.

Triage is fluid.

Life is fluid.

We all do the best we can with what we have where we are.

And we remain steadfast

#beatingcowdens.

 

 

Superfluous Tissue

6 years ago I was trembling with fear.  I sat up most of the night.  I paced the floors.  I was scared out of my mind.

No stranger to surgery, this one was way different.

Sometimes I actually forget things.  But, most of the time, especially when it has to do with numbers or dates, I remember.

Six years ago I was only months past the diagnoses of Cowden’s Syndrome Meghan and I had received.  Six years ago I was only learning about the mutated gene with astronomical cancer risks that I had passed unknowingly to my girl.  Six years ago I was reeling with the knowledge that she had nodules on her thyroid, pronounced and alarming.  I was trying to grasp the reality that this life of medical drama that I had hoped would subside, was going to require our vigilance and attention forever.

So, exactly 6 years ago tonight  I was contemplating the overwhelming reality that my newfound breast cancer risk, which exceeded 85% on gene mutation alone, had been coupled with my 8 prior breast biopsies, and my mother’s “survivor” status, and had relegated my surgeon to tell me it was not “if,” but “when” breast cancer would strike me.  When I met her for the first time a few weeks prior she had my chart with her.  She had reviewed it before our consultation, and she cut right to the chase.

“When are we going to schedule your surgery?”

I paused, a little stunned and confused.

“For what?”  I managed to ask.

“Prophylactic bilateral mastectomy.”  She stated simply.  “You will face breast cancer.  The numbers, and your history make it irrefutable.  I think we need to get there first.”

I always travel to my doctors alone, but that is probably one of the few times I actually regretted it.  The room started to spin a bit.  Thankfully, she didn’t skip a beat.

I managed to ask, “when?”

She said, “March 5th.”

I protested.  I asked if we could do it over the summer.  “I am a school teacher,” I told her.

She was kind, but unimpressed.  “March 5th.  My scheduler will help you coordinate with the plastic surgeon.  We will be in the operating room together.”

I was numb.  I called my husband, then my mother.

I drove home, and started to prepare.

I was unsure how I would handle the minimum 5 week recovery.  There were no sick days left for me to pull from.  I had an 8-year-old who had already had multiple surgeries, and I had quite a few myself.  I started to wonder how to plan financially for a leave that would end up being at least partially unpaid.

A dear friend, who will never fully grasp the depth of the gift she gave, donated 25 sick days to me.  The weight she lifted off me was astronomical.

I spent the next few weeks in auto pilot.  We were still handling some new findings on Meghan, and I was reading and processing Cowden Syndrome.  It made me nauseous.

I remember the drive into the city that morning.   I remember walking with Felix.  I remember praying over the phone with my brother-in-law.

I remember repeating over and over to the unbelieving doctors that I would NOT be having tissue expanders, the common course of action with a mastectomy.  The plastic surgeon heard my concerns, and my need to simplify, and to get home without additional surgery.  The knowledge that my child would likely one day walk this road filled me with a sense of urgency to make it seem as simple as possible.  She agreed to do immediate implants.  I lost count of the number of times I explained that.

I remember walking to the operating room, and looking into the comforting eyes of my surgeon before I fell asleep.  “You are very brave.”  And even though she never really gave me a choice, her reassuring smile helped so much.

I remember waking up feeling relieved and empowered.  Not just because the surgery was over, but also because I had gotten out in front.

I remember seeing my husband, and checking on Meg.  I remember seeing my sister and telling her she should be with my nephew.  His birthday happens to be the same day.

I was discharged the next morning – about 28 hours after the surgery.

The next days were painful, and draining.  My mom was with me for a few, to wash my hair, and to chat.  I hated the circumstances but treasured the time with her.

After my mom’s mastectomy following her cancer diagnosis many years prior, she had dubbed the breasts “superfluous tissue.”  I finally understood.

When my pathology came back days later with early grade DCIS, essentially one cm of stage 1 breast cancer, I missed my breasts even less.  We were all surprised, and I was grateful for the knowledge that the cancer was not close to the chest wall and no follow-up treatment would be needed.  I just had to heal.

I had no idea at the time that two months later I’d be back in the hospital for a hysterectomy.  Cowden’s Syndrome does not mess around.

Except, it messed with the wrong family.

We get knocked down, but we get up stronger.

Sometimes I hate that I remember dates.  Other times, maybe it gives me reason to celebrate, and to feel empowered.

I started owning my nutrition 6 years ago.  I have worked on playing strong and fit.  My weight has been stable, and I am proud to be one of the healthiest looking sick people you’ll ever meet.

“superfluous tissue” indeed.

#beatingcowdens

 

 

Rare Disease Day 2018

I took today off from work.

Sadly, it was not to enjoy the almost 60 degree February day.

Today was doctor day.

And as I traveled  two hours for the 17 mile trip into Manhattan this morning, I had plenty of time to think about World Rare Disease Day, tomorrow, February 28th.

Rare Disease Day 2018 will pass for us unlike the last few.  In recent years my family, spearheaded by my daughter, has held a sizable fundraiser to draw attention to Rare Disease Day.  Our goal was always to raise awareness and funds to support research and treatment of our Rare Disease through the PTEN Hamartoma Tumor Syndrome Foundation.  My girl needed some time off to address some things on her mind and heart.  I gave her that time.  She is still working hard, but she has already expressed an interest to join me in planning an event in October of 2018.  Stay tuned.

While I was driving, I thought a lot about RARE.  It has so many connotations.

Sometimes I think of snowflakes, and rainbows, and unicorns.  I think of pleasant, beautiful things.  Some of the buildings on the skyline look rare.  Rare can be a thing, a sight, an action or even a feeling.

Rare is defined by Dictionary.com as:

adjectiverarer, rarest.

1. coming or occurring far apart in time; unusual; uncommon:

a rare disease; His visits are rare occasions.

2. thinly distributed over an area; few and widely separated:

Lighthouses are rare on that part of the coast.

3. having the component parts not closely compacted together; not dense:

rare gases; light-headed from the rare mountain air.

4. unusually great:

a rare display of courage.

5. unusually excellent; admirable; fine:

She showed rare tact in inviting them.
Rare can mean remarkable, wonderful and exciting.  It can mean fascinating, and intriguing.
But life with a Rare Disease reminds you often, that RARE can have many other connotations.
A quick look at thesaurus.com generated these synonyms to RARE:

Synonyms for rare

adj exceptional, infrequent

Quite a list, right?  And, if you really look with an honest eye, not all of them have super positive connotations.

Strange, uncommon, unthinkable, unusual, deficient, flimsy, tenuous, (and no this isn’t a typo, but I had to look it up) unwonted…

These are not the words you’d use to describe a beautiful natural event, and probably not the words you’d pick for a dear friend.

Yet, these words also mean RARE.

I set out today to get screened by 3 of my many specialists.  The cancer risks with a PTEN mutation are almost astronomical.  It becomes a game of “when” not “if” in so many cases, and the vigilance required to seek out the cancers so they are detected early can be overwhelming.  Lifetime risks for breast (approximately 85% as compared to 7%), thyroid approximately 30% to .9%), uterine (approximately 28% as compared to 1.7%), kidney(approximately 24% as compared to 0.8%) and melanoma (approximately 6% as compared to 1.1%) eclipse the general population.  (These numbers were midline from a graph in this link) www.myriadpro.com/services/clinical-summaries/gene-pdf.php?gene=pten&allele…

The risk of recurrence is also great, and that of developing a second, primary site cancer is also noteworthy.  So, having had a double mastectomy with a great prognosis, does not eliminate the need for biannual screening.  I love my breast surgeon.  She is one of the best.   She and I are both always pleased when she can tell me everything is good.

But, I held onto her a little longer today.  I told her I was in the market for an internist.  I need someone to play “case manager.”  I need someone to be my doctor.  She paused and furrowed her brow a bit.

That isn’t an easy request, she told me.  I said I just need someone willing to learn a little, and consider that I don’t fit in a “box.”  I need someone who will partner with me.  She told me she’d led me know if she thought of anyone.

I’m not hopeful.

I waited down the hall for the hematologist/oncologist.  When she was an hour late, I walked the half mile (in jeans and compression stockings from Wednesday’s surgery) BACK to the main hospital to see my endocrine surgeon.

She may be the weakest link in my chain right now.  She scanned the remains of my “lumpy, bumpy” half thyroid that the surgeon 25 years ago thought would be an asset to me.  She scanned a very slowly growing lymph node in the area that went from .6mm to .8mm.  She told me to get some blood drawn and that all looked good.  I showed her a recent chem panel. She pointedly ignored every out of range number, and zeroed in on the calcium level.  “Good.”  And she handed me back the papers.  Then she ordered a short-sighted list of thyroid labs that I would never tolerate for my daughter.  I was out of her hair in 15 minutes.

I walked back to the cancer center thinking “rare” thoughts.

I waited again for the oncologist, who was as always pleasant and happy.  She examined my spleen, and what she could feel of the 4 hamartomas that live there.  She felt nothing out of the ordinary, and ordered my abdominal sonogram.

I showed her the same chem panel I showed the endocrinologist.  She agreed the irregular labs should be repeated, but did not feel concerned.  I asked her about an internist.

She froze.  She suggested a new genetics person that had recently come to the hospital.  I may go for a consult.

But, and internist?  I asked again.

Hesitation.  Almost painful look.  She explained that the internists have to move fast.  They don’t really have time to get to know a new condition.  She couldn’t be sure if she new any that would care properly for me.  She basically gave me 4 names, but told me I was best left to do it myself.

Even though my rational mind understands it to a degree, I felt like I’d been punched in the gut.  I have homeowners insurance, auto insurance, and life insurance, just in case.  I have a 401K and am part of a pension system.  I do my best to prepare.  And I was basically told, by a major NYC hospital, that I stood little chance of finding an internist who would take the time to manage my case.

That scares me.  I do it.  I always do it, and I will continue to do it.  However, I am managing health care for myself and my teen.  And it’s not just routine stuff.  Cancer is looming, lurking, and mocking us.  All I want is someone to check behind, proofread per se, and make sure I am checking all the right boxes.  I want someone who will know that a test result in us may not mean what it does in someone else.  I want someone who looks me in the eye and knows I am a human who plans to live a long time even though her body doesn’t play by the rules.  I want a name to put on the line every time someone asks me for my “primary care” doctor, and I want that doctor to at least glance at every pertinent paper sent to them about my health.

I got my blood drawn at the hospital lab.

It’ll be in the online system long before anyone ever discusses it with me.   I’ll scan it, and hope that there are no alarm bells to be sounded this time.

RARE isn’t just snowflakes and unicorns.

RARE is that kid, who everyone looks past.  The one without the cool clothes, or the right hair.  RARE is the one who no one wants at their lunch table, and the one who is conveniently forgotten on fun excursions.  Because, what it RARE can’t do what everyone else can?  And anyway,  truth be told, RARE has cancelled one too many times.  RARE doesn’t really fit in anywhere.  RARE is brushed aside, in hopes they won’t bother anyone, or maybe they it go away.  People are afraid of RARE.  They perceive it as fragile, needing too much effort, or too hard to understand.  Sometimes people even envy RARE, without thinking through the late nights, the terror, the medical strategies, the constant advocacy.  RARE wants to fit in, but it never will.

RARE is too much new, and too scary for a doctor to own more than one piece.

We are scared of things we don’t understand.

Right now, RARE is a bit of a loner.

We are all RARE in some way.

But, RARE as a lifestyle is not an easy road.  And it is not a choice.

The choice comes in what we make of it.

Rare Disease Day 2018 will be a little different this year for us, a little more quiet.  But, I hope there is no doubt, that we will come back.

RARE does not give up.  Ever.

#beatingcowdens