The Medical Bell Curve – Where do you fall?

Our healthcare system is broken. It is so desperately broken that I am not sure it can be repaired. But, I truly hope we are somewhere grooming a generation who will try. It is broken in so many different ways, but in the way we know best in this house, it is hanging by a very frayed and thin thread. And, truth be told, so are we. The question we ponder is what are we holding on to?

We have created sections, and subsections of care. I avoid the term “specialty” deliberately. We have crammed the status quo down the throats of exhausted and overworked doctors who are frequently jaded about their career choice before they have had the opportunity to size up the gargantuan pile of student loans they, or their credit, may never recover from.

Their jobs, at major hospitals have them double and triple booked for meager insurance payments. They are pushed to see more patients, and to do so faster. There is not time for inquiry, or for research for a particular patient. They are taught, “when you hear hoofbeats think horses, not zebras.”

And I get it – to a very minor extent. When I was in college I learned all about the bell curve, and how the vast percentage of the population, 68% fall within one standard deviation of the mean, or average. Which means the study of “normal” medicine answers whatever questions 2/3 of the population have.

If you take it a little further, by contending with some “odd” presentations, you have covered about 95% of the population by the second standard deviation, the bell part of the curve.

While this did not come off of a statistics site, you get the point.

What if you have a zebra? What if you are rare?? What if it is a way of life for you? Then what? Or what if you land in “mythical” and you have yourself a “rainbow unicorn zebra?” Do you want to know what happens then? “Medical Professionals” are so uncomfortable because you exist that they try to make you go away.

We live in a big city. We have always lived here. We have been dealing with my own medical challenges long before we knew of “Cowden Syndrome.” My girl came into the world a medical anomaly and little has changed. Except the unrelenting quest for answers brought us to a diagnosis of PTEN Hamartoma Tumor Syndrome, and hypermobile Ehlers Danlos Syndrome, and a Mannose Binding Lechtin deficiency, and and AVM in the knee, that on it’s own accounted for 7 surgical procedures, and one in the thigh, and a VM in each palm, and a lumpy thyroid that needed to be removed, and the same for the tonsils…. and…. and….

So, it’s summer. And while others are complaining about their jobs, we are doing ours. We are checking in with countless specialists as Cowden’s is a syndrome of constant monitoring. It is our job to catch cancer before it catches us. There are games I prefer. But, this is ours.

Over the years we have sought counsel from the most prominent, and the most “off the beaten path” doctors we could find in this city. And as my confidence grew I checked them. I checked their credibility. I learned more chemistry and biology than my 9th and 10th grade teachers could have imagined possible. I listened, I tried, I added and subtracted. And there grew a complex combination of prescriptions, vitamins, and compounded off label medications that make up a daily regimen in this house.

Do I have proof? No more than they do.

Monday and Tuesday we saw two of the best this state has to offer. One is a pediatric endocrinologist who looks at my child as a WHOLE PERSON. The other is an orthopedist who has seen her at her best and worst, and genuinely takes pleasure at helping her reach new heights.

Today. Let’s just say today I could have done without.

As a newly diagnosed PTEN patient Meghan was sent to a “specialist” who knew more of this disease. She was the one many of the others in our circle, (HUGE CITY, SMALL CIRCLE) referred us to as the guru. At the time she prescribed a medication that seemed to do a lot to slow the AVM under the meniscus of Meghan’s right knee. For a good stretch of time there was a respite from the vascular embolizations. We were on a good track. Then, there was that time she ended up in the hospital with a severe gastric reaction. It was assumed that reaction was from Celebrex, the drug with the off label properties that seemed to be slowing the progress of the AVM. Her esophagus was raw, and whether it was to blame or not, it was the likely culprit. I was cautioned we’d know within 6 months if it had been working.

Almost 6 months to the calendar there was a bleed in her knee that caused an emergency surgery. It was the AVM. And that time, enough blood sat there long enough to complicate a few more things. Had we been “Robbing Peter to pay Paul?” we would never know. The Celebrex left our life and knee surgeries resumed.

Hypermobile Ehlers-Danlos, undoubtedly an issue since birth, made nothing easier. The pain of constant subluxations was taking its toll. We added what we could to provide some relief.

Ella, the service dog joined us finally in January after a 3.5 year wait. Ella provides her own medicine.

But a few weeks back I thought, let’s revisit this PTEN “specialist” from yesteryear to see if she could offer advice on an off label treatment for the newest AVM in the upper right thigh, dancing with the sciatic nerve, too deep to remove, deep enough that the effectiveness of additional embolizations are questionable.

Her office insisted on new scans, and MRI/MRA with contrast prior to the visit. We had to schedule them both the same day as the office visit so we could discuss the new scans.

So, for the third time in 4 days we left for an all day medical journey. We left at 9:15, started the scans by 11, finished by 12:15 and waited till 12:45 for the CD which, even though they told me I didn’t need, experience has taught me that, yes. I do.

This was the first time, after well over 40 MRIs that Meghan was in the room alone. Ella was mine to care for in the waiting room. Mixed emotions everywhere.

The pouring afternoon rain showers seemed to add to the gravity of the day.

Having not seen this doctor since 2014, we caught her up on the surgeries since then. She is new to the facility we were at, although not new to the field. She immediately began to question well researched decisions made by a doctor who left the facility last year. The hairs on my neck began to stand.

She knew we were there about the AVM in the thigh, and we were looking forward to hearing her take on the scans. Imagine our shock to learn the images mean nothing to her, and we were waiting for a report that was not destined to arrive that day.

She reviewed the medication list and openly criticized it. But, she would not speak to what she thought was excessive. In a few sentences she managed to demean and demoralize. We asked about medications for AVM, and she mentioned one we are well read on. But, she then dismissed it because Meghan will be at college next year. “It is hard to monitor. I don’t monitor it. There is another doctor who does it. And I don’t know if you’ll be able to do it remotely, or if you can even get the blood work in Pennsylvania. Plus, we don’t even know it works.”

We asked again about the Celebrex, but she was reluctant to try it again.

At which point Meghan, who had been so quiet, let the doctor know she was instilling zero confidence with her list of “maybe,” “possibly,” and “probably not.” Meghan was accused of seeking pain medication. Which she was CLEARLY not. Trust me. This kid values above all things having her wits sharp.

I expressed our frustration with the carousel, or rather the teacups is a more accurate description of this ENDLESS ride. As she began to mention more doctors I shuddered. I asked her if she understood the physical, mental and emotional toll on the patient. I asked her if she understood by the time we leave appointments like this we are unable to accomplish much. Hours in traffic and the emotional turmoil of more questions than answers, we are exhausted.

She felt compelled to remind me that the process is slow, and I must be patient.

Again, I am not in a small town.

I am in a huge city. With great insurance. Which is useless because I can’t seem to get much covered anywhere but here. And who wants to see us anyway?

She made sure to remind me the hardship it is to take on Rare Disease patients. She reminded me about the paperwork. Yep, I know.

I reminded her that I have pretty much lost track of all casual contacts trying to keep my head above water.

Either she didn’t understand, or she didn’t care. She was too busy telling us Meghan is a success BECAUSE of doctors like her. I guess, technically she’s not wrong. Meghan is a success and will continue to be her best self because she knows she wants to DO BETTER and to BE BETTER, for all the Zebras, and the “regular” people too. So yes, she is a success, not because of those like this doctor, but in SPITE of them.

I’ll mail the CD to the ortho. In case we have something we have to do. In the mean time I will continue to teach and empower Meghan to manage her care as best she can. She is amazing. She never stays down long.

What are you doing this summer?

We will be here…

#beatingcowdens

Six Wheels and a Boot

At any given point during our 10 days in Disney, our party of three also had six wheels and a boot.

We must have looked unusual to anyone who passed us by.

I traveled with a virtual pharmacy in my purse, which is really simply a string bag on my back, because who really wants to be fancy anyway?

The week before we left we had a PILE of appointments.  I think I lost count at 17 in the 5 days.  One of them was the orthopedist Meghan sees a few times a year.  He was catching up on the new diagnosis of Ehler’s-Danlos Syndrome, paying careful attention to her knee, which by all accounts has been her ‘Achilles heel’ her whole life.   There had been pain in that knee for weeks prior, which is always a concern.  One of the surgeries she has had repeatedly has been to correct the tracking of the patella.  Anxiety is warranted.

This doctor suggested an MRI to confirm the knee was tracking correctly.  He also said that she was ‘not to walk consecutive distances longer than one block’ at least until the pain in the knee settled.  He prescribed a painkiller and a muscle relaxant.  He told me she was not to walk the parks in Disney. She needed to spend most of the day confined to a wheelchair.  And while there is gratitude for the temporary nature of this situation, there is a mental and emotional adjustment to enduring it.

This was not a totally new arrangement for us, as the knee has limited her walking in the past.  However, there is always the hope that with age things will change.  And while Meghan is healthier and stronger than I have ever seen her, the realities of Ehler’s-Danlos and its wear and tear on the connective tissue are real and very present.  So, out came the wheelchair.

And, one of my appointments was an MRI follow up for the foot that has been a disaster since I fell at work January 8th.

The initial fall partially tore the lisfranc ligament.  Which might have been easier to recover from, except ligaments don’t show on xray.  So the initial diagnosis was a sprain.  Which was treated with 5 days rest.  Then 2 weeks later when the pain was more than it should have been and my primary asked for an MRI, GHI decided I didn’t need one yet and I could wait 6 more weeks.  So, I forced the foot into a shoe for a total of 8 weeks post injury before I couldn’t stand it anymore.  At that point an MRI finally picked up the partial tear.

I was booted for about 6 weeks.  I was pulled out of work and off my foot, but largely too little too late.  I returned and handled the foot conservatively, waiting to feel better.  Or at least closer to being able to walk like I did on January 7th.

Every other week there have been check ups at the podiatrist.  Two visits to a specialist in NYC. Days blended into weeks and my patience started to wear thin.  I began Physical Therapy, but even the PT was baffled by the amount of pain in the foot and encouraged me to keep looking for answers.

A repeat MRI was scheduled for 8/2.  I obtained the results on 8/14.  While the pain in the foot should have been an indicator, I was not prepared to hear that I needed to return to the walking boot, as I had a likely stress fracture in the cuboid bone, and a neuroma in between my second and third toes.   This mess courtesy of my body compensating to protect the lisfranc ligament while it healed.  I had unconsciously shifted all my weight to the outer part of my foot.  I was to limit my walking.  By that night I was back in my walking boot ordering a knee scooter for the trip to Disney.

I remember after the fall in January, and even after the diagnosis in March, feeling so happy that I would at least be healed and back to walking before our trip.  The best laid plans…

So when we headed out for a 5AM flight on 8/18, we had all our suitcases, a wheelchair and a knee scooter.  We checked three bags, and Felix pushed Meghan while I scooted behind.  We were a sight.

And after waking up at 2:30 for our flight and traveling via scooter through the Magic Kingdom, I wanted nothing more than to go home.  Immediately.  I felt like I had done a bad step aerobics video over and over on only my left thigh and butt cheek.  You might not realize the strain on the thigh when you rest the knee with a way-too-heavy boot hanging off the back.  There was just no way I was going to make it.

So Monday morning I released Meghan and Felix to the Magic Kingdom.  I sat in the hotel room.  I cried for about 10 minutes.  I called my mom. I made a cup of tea.  And then I made a plan.

I researched a new set of eyes to consult on the foot when I arrived home.  I rearranged our return flight to a more civil time to I could book an appointment for the 29th with confidence.  I stretched.  I took way too much Advil.

And sometime that morning between the NSAIDs and the caffeine, I started to feel the magic.  I sat on the hotel balcony.  I strengthened my resolve.

I am not sure at all why it seems everything is so hard.  I couldn’t fathom why I had sent my otherwise healthy kid off in a wheelchair, while I sweated inside a walking boot,  all the while healing from the Fine Needle Aspiration thyroid biopsy two days prior for thyroid nodules recurring on my previously quiet and well-behaved remaining thyroid lobe. (Partial thyroidectomy 1993 – dx multinodular goiter, 18 years before I had ever HEARD of Cowden’s Syndrome)

In that moment most of what we were facing had nothing at all to do with Cowden’s.  And yet, the same choice existed in that moment.  I had to decide that I was going to make the best of it.  I had to decide that I was not giving up my family vacation for more medical nonsense.  I had to decide to find a way to enjoy.  Because the struggles, the pain, and the drama would all be waiting for me at home whether I found the “magic” or not.

All the positive thinking in the world was not going to make anyone’s pain go away.  Not even a stomach burning amount of Advil and a few strong cocktails could do that.  But, I am a huge believer in a positive mindset.  And in that Monday morning overlooking the Hawaii themed resort, things started to fall into place in my mind and my heart.

We get 2 weeks a year to spend as a family, free of other obligations.  We get 2 weeks a year.  And I wasn’t going to waste it.

I joined them later that day, and never left them again.  We traveled together – a family of three, six wheels and a boot.  We laughed a lot, we argued a little, and generally found the best in each other.  We met up with my sister and her family for a super fun night together. 

We got to Mickey’s ‘Not So Scary’ Halloween Party for the first time.  We saw more characters than we’ve seen since she was quite young.

Finally, after many years of staring at the giant “Hot Air Balloon” in Disney Springs, I got myself on.  Because, Why not?  Magical.

 

We found that our resort had a stand serving dairy free Dole Whip – the first time my 16 year old ever had soft serve.  Magical.

 

Some people wonder how we do the same vacation year after year.  They wonder how we don’t tire of it all.  For us, there is a magic that can’t be explained, only felt.  There is wonder in eating safely in restaurants and having access to a bakery free of gluten, dairy and soy.  There is joy in eliminating something so basic as food isolation, and sharing meals, sometimes as a family of three, and other times with some Disney friends.

Even Donald was checking on my boot!

There is magic running into Pluto in the lobby of your resort, or finding the Seven Dwarfs waiting to meet your family.

There is magic in roller coaster selfies, and Figment reminding us to use our imagination.

There is magic in all things familiar, and always finding something new.

There is magic when you seek it, even with six wheels and a boot.

Because there will always be battles to fight.  So sometimes they can just wait 2 weeks.

The foot problem is not solved.  It’s time to find some serious answers.  I won’t open the school year for the first time in 22 years.  These next few weeks will be about making plans to heal.

There is no magical solution for my foot.  There will be more MRIs, and more doctors.

My patience will be tested in new ways.  I am not sure what to expect, and that makes me nervous.

But there will never be a single second that I regret adding 4 wheels and a boot to my own self to enjoy and appreciate the magic with my family.

I know the body can not heal if you don’t nourish the soul.

#beatingcowdens

 

 

Sweet Sixteen

IMG_9134

Dear Meghan,

When we started this journey I never would have chosen this path for you.  I never would have selected a life of hospitalizations, tests, rare diseases and pain.  I would have chosen an easy life for you.  But, I didn’t get to choose.

5FCF6032-7C55-4263-BB4D-DEAA896CB147

And, maybe that’s better.  Don’t get me wrong.  Everything that you have endured is overwhelming.  I wish I could take it away.  But, this adversity and these struggles, they have guided you as you have become a young woman I could not be more proud of.

This has been a twisty and winding road, and we are still only at the beginning.

Since you were very young you have had an unimaginable determination to accomplish whatever you set your mind to.  You never cease to amaze me.

From the days of Early Intervention and CPSE Speech/OT and PT, you just never quit.

You decided early on that you would do well in school.  And you exceed any expectation I’ve ever had.  You continue to seek classes because you genuinely want to learn new things.  You want to be your best self.

D9930B76-ACE0-4AEB-86CE-829D06C28C64

You have always had the heart of an athlete.  You tried every sport you could and constantly had to reroute due to pain. Then, you landed in the pool.  The pain there is pain you can manage.  You are continuing to set, meet, exceed and reset goals.  Despite some seemingly insurmountable physical obstacles, you are an athlete.

You are deeply principled, a trait that has made you the young woman you are becoming.  It also makes me want to scream out loud some days.  Sometimes balancing socially was a struggle.  You look for the good.  You make your decisions based on the heart of the people you are with.  You would not compromise your beliefs. You had patience.  You have friends now who love you for being “fiercely yourself.”

7635727E-E84E-4BFA-A6E0-ED69A9AECFE3

You have faith.  You believe in a God who loves us all.  You believe in GRACE and forgiveness, and even though you haven’t had a traditional church upbringing, I am proud of the questions you ask, and your desire to learn.  I am mostly proud of your heart.

Every day you are growing, stronger, wiser, and more confident.  Every day you are seeking out ways to improve.  You are constantly reflecting and growing.

No one outside of our home can fully understand this journey.  And while having TWO rare diseases I think may give us magical unicorn status or something, there is no one I’d rather have to traverse these trails with.

I could go on forever.  My heart spills over with love when I think of the young woman you have become.  I am full of anticipation and excitement about where the journey will lead you.

Know that forever and for always I will always be your biggest cheerleader and your most vocal advocate.  Know that I love you to the moon and back times infinity.  FOREVER!

Remember – sometimes we don’t get to pick our path.  Yet, if we open our hearts we can make the bumpy roads the most meaningful.

D4255228-2564-4FE1-886C-897CECD27466

I love you more – ALWAYS

Happy Sweet Sixteen!  Enjoy the day!

xoxo

Mom

And if you’ll take a bit of motherly advice – most of it can be found in these three songs….

I Hope You Dance…

 

Always Stay Humble and Kind

 

And, Know When To Hold ‘Em…

 

Forever #beatingcowdens (and #hEDS) with you!

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…
*********************************************************************
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
*********************************************************

#beatingcowdens  AND #hEDS…  I guess some updating may be in order…