(Living) “In Prep for the Climb” – PTEN Awareness Day 10/23/18

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 Lyrics
I’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

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

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.

 

 

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

Time flies…


February Break.  A time to refresh and renew.  Mostly.

Except here.  Here it’s a time to go as hard and fast as possible to get as many things done as possible.

Some of those things are Cowden’s related.  Some are real-life related.  Some are both.

Each could probably take a full entry or more.

But, for now, just in the last 10 days…

Last Thursday, was root canal 4 of 4.  Ninety minutes in the chair for a nerve I don’t think is gone.

Friday I spent the morning at pre admission surgical testing for an upcoming vascular surgery.  6AM appointment.  By the time I was leaving at 8, they had already begun to tell me I needed to find a primary care doctor to fill out “clearance papers.”  A whole lot of nonsense about “comorbidities” with Cowden Syndrome.  I felt like I had “cooties.”

Friday afternoon I went to two appointments with Meghan.  Each left more questions.

While I was in the car the head of PAST (Pre Admission Testing) called to tell me without additional clearance, my surgery was cancelled.

Monday the dogs, both of them had all day trips to the vet.  One had her teeth cleaned, and the other 22 staples in her side to remove a tumor that’s been there for almost 18 months.

Tuesday some work began in our basement- a long overdue upgrade to a leaking shower.  It would take days, and my husband needed to stick around just in case.

Tuesday we went back to NYC to Meghan’s neurologist to have another brain MRI.  Lesion is stable.  The tumor board will review it on 2/28 – Rare Disease Day – and if all concur, she will have 6 month brain MRIs for at least 3 years.  We talked a lot about headaches, and got a suggestion for a natural migraine relief I’m hopeful about.   The head congestion persists despite “clear” sinuses and the headaches are relentless.

After I dropped her to swim, right from the city on Tuesday, I called my surgeon’s office to discuss what had gone wrong to cause the cancellation of my surgery.  I was very surprised to hear things had rectified, in ways that confused me greatly, and I was no longer cancelled.

Having given up my ride, and anxious about the way things had been handled, I took an uneasy Uber trip to the hospital for my arrival time.

I should have been late.  They were.

My 11:30 OR became 3:45, and the day was pretty much poorly done all around.

It’s over now – and truly is a long enough story if I tell it, it will need its own entry.

Thursday and Friday I did what I could to rest.  Saturday was Silver Swimming Championships.  In the Bronx.  With a 6:30 AM arrival.

There was also a 2 hour line for a well-deserved sweatshirt.  In my stockings.  3 days after vascular surgery.

We made it back to Staten Island in exactly enough time for her to change her clothes, brush her hair, and grab a sandwich on the way to theater.  She’s begun working with a lovely group, SICTA, performing “Once Upon a Mattress” this spring.  She made it in 10 minutes before rehearsal began and kept at it till I picked her up at 4:30.

Sunday was Saturday – take two.  Minus the sweatshirt line, with the addition of some rain.  In the dark.  To the Bronx.

But, two days.  Two events.  Two best times.  This is what makes it worth it.

And, I was home in time to get April to the vet for her newest ear infection.  Felix was going to go, but the flex hose behind the dryer split…

And in 12 hours I’ll be on my second class of the day.

It should be easier than this.  Today I’m wiped out.

I keep vowing to write more, and I keep failing.

#beatingcowdens

is exhausting.

Non maleficence- Meghan’s monologue

Meghan recently had a drama assignment where she had to write a monologue on non-violence.  The teacher appreciated her perspective, and I think it speaks to the long term effects of rare disease, and chronic illness.

I’ve added nothing below…

“A physician’s guiding maximum is non maleficence. Non maleficence means ‘to do no harm.’ And, I guarantee you that screaming at an 8-year-old and burning her neck, all while sticking needles through it, qualifies as the opposite of non maleficence.

 

Then, I was a scared 8-year-old who just found out she had a rare genetic disorder. Now, I’m a 14-year-old with PTSD and a rare genetic disorder that has caused a lot of hell in my life and is never going away.

 

As I look back at this biopsy, I realize many things. One, I’m positive this first medical trauma led me to be fearful of all the medical challenges that have befallen me. Also, I realize that my deathly fear of needles and my PTSD originated on this day.

 

If this doctor had used a non-violent tactic during this procedure, which isn’t pleasant anyway, then maybe my journey would have gone a different route. Maybe I wouldn’t to this day walk into a doctor’s office, see needles, and have my heart jump into my throat.

 

People don’t realize that actions that may seem small to them can have a big effect on someone’s life. As I think back, I realize that if this one doctor had practiced non-violence, then my preconceived notions of pain and fear every time I walk into an examination room might not exist.”

#beatingcowdens

Ice Cream for Dinner

You have to give the body what it needs.  Tonight mine needs ice cream.  With hot fudge.

Normally I’m a protein shake, green tea kind of gal.  But I don’t really believe in drawing hard lines anywhere, because hey – you never know.

Today was day 3 of a seemingly impossible root canal.  Our very capable dentist deemed it in the 5% of root canals he has to send out.  That was after almost 90 minutes in his chair 2 weeks ago.

The root canal specialist looked at it and validated the dentist.  She said he was right.  It was going to be tough.  That was just the consult.

Last Tuesday, and again tonight I spent an hour each time with my back lower left molar being attacked.  My jaw hurts.  My face aches.  To hear it wasn’t finished was no fault of the dentist.

It was “odd,” “unusual,” and “the most difficult root I’ve faced in a while.”

Blah, Blah, Blah…

She has to talk to the dentist to decide the fate of my less than one year old crown.  In my gut I’m not so sure the tooth will survive.  Time will tell.

My girl, thankfully used Uber to get home from school, so that she could get the dogs ready.  Lucky, our older dog had a consultation to consider surgery to remove a mass on her side.  She’s 12.5, bloodwork to determine if she’s a candidate will be in Friday.

And that’s just the normal, happens to everyone stuff that has gone on this week.  Is it really only Wednesday?

One day at a time I keep reminding myself.

We re-upped our commitment to Physical Therapy last night after a visit with the orthopedist last week.  He voted for 12 more weeks for the shoulder tendonitis and the possible “plica” in the (formerly) GOOD left knee.  Thank GOD for Dr. Jill.  Without her knowledge, patience, humor, adaptability, passion and skill I have no idea where we’d be.

He also asked for an MRI of the left knee “just in case.”  It’s on hold for now.  We are literally in a point in life where we have to conserve scans.

The brain MRI is February 20th and that has to be priority.

January 17th we saw the adolescent gynecologist.  She reorganized the hormones, and put in the order for an abdominal sonogram.  Its time to check and make sure that uterus is behaving.  As soon as we can get it on the calendar.

calendars

I sent a lengthy summary of 2017 to her geneticist asking that he reevaluate a few areas of concern.  I sent the Email Sunday.  By Monday I had been politely dismissed.

All my hopes rest with the pediatric endocrinologist.  Appointment is 2/9.  He’s gotten a few articles and knows I’ll be pleading for a trial of an alternative thyroid medicine.

I’m starting to lose faith in the medical professionals we see.  And I had thought we’d conjured up a great team.

Cowden’s Syndrome is time-consuming and exhausting.  It’s hard to see unless you’re in the middle of it.

And sometimes when you can see it every day – because you have to- you know that sometimes you need ice cream for dinner.

And that’s perfectly ok.  I may even go add a glass of wine.

#beatingcowdens