When Parents are Patients…

Published on August 11, 2026August 11, 2026 by beatingcowdens4 Comments

I recently fount this post in my “drafts” from August 2024. I edited only the dates. I have no idea why I never published it. Now, in August of 2026, 3 more Meghan surgeries later (including a double mastectomy) I guess it’s better late than never… Will any of my PTEN moms who are also PTEN patients themselves give a shout out? I’d love to know you.

I spend a whole lot of time in this blog space discussing my girl. Meghan is my amazing, fierce, feisty, never-give-up, never-give-in PTEN kiddo who is so much of my heart, my life, and my every breath. She was born through the craziest birth story and seemed to not feel well literally from day 1. Day 1 was 23 years ago, on August 9, 2003.

She was diagnosed with PTEN Hamartoma Tumor Syndrome in the fall of 2011 after a persistent physical therapist (our forever hero Dr. Jill) led us to a brilliant geneticist. I told him of her struggles during that visit. We talked about her GI issues, the gall bladder that was removed when she was three, the incredibly notable and full of nodules tonsils and adenoids removed soon after, and the AVM (arteriovenous malformation) in her right knee that would not quit despite being treated by the doctor everyone told us was the best. That visit lasted about an hour and during the visit, he asked some questions about my own history as well. I answered everything, desperate to figure out how to help my girl. When he was finished he looked me straight in the eye and said, “I know what she has Mom, and you have it too.”

That’s the only part of the day I can put in quotation marks, but I will NEVER forget that sentence.

What followed was him asking me to trust him. To let him test and get confirmation before he released his suspicions even to me. He told me the internet was not where I wanted to be until we were sure. I never trust anyone. I trusted him.

For 6 anxious weeks, we waited. And, the results were as he had expected. Meghan showed a pathogenic mutation on the PTEN gene, which is a tumor suppressor gene. I was brought in for testing soon after that and since my test was targeted to only confirm that her mutation came from me, the results were faster. Before the end of 2011, my girl and I had both been diagnosed with PTEN Hamartoma Tumor Syndrome or as it is often referred to in its most common manifestation – Cowden Syndrome.

In the summer of 2011 we knew life was medically complicated, but we had NO IDEA where it was headed!

There was not nearly as much information available in 2011 as there is today, and our diagnoses even predated the PTEN Syndrome Foundation. I scoured the internet and dug into Facebook groups. I read and read and read so many things that I barely understood. But, I was in good company. So few medical professionals had even HEARD of this syndrome that they BARELY understood it either.

I connected with some parents/ patients across the globe who became my actual lifeline in those early years. I wanted to hear about others and what their experiences were. I wanted to learn all of it because I was determined to help my girl be the best she could possibly be.

My 30s had been spent seeking a diagnosis for her random and disconnected symptoms. As a mom, my own health concerns got addressed but they were definitely second in my mind and priority to hers. In late 2011, 14 months before my 40th birthday, I was left to process the reality that she had inherited this syndrome FROM me AND that I needed to figure out what this looked like as a parent, AND a patient.

When my diagnosis was confirmed I had little time to think. I was told that the inherent cancer risks that come with this diagnosis begin to peak around 40. I was told that time was of the essence to have Meghan’s thyroid evaluated, and it seemed like everything had to happen, well, yesterday.

It appears this autosomal dominant mutation was “de novo” or new in me, and that I am the first in our family to present with Cowden Syndrome. I had no road map. And I am terrible at directions.

What I did know was that I was reading staggering numbers – putting the lifetime breast cancer risk of PTEN patients at close to 90%. I brought my new diagnosis to my breast surgeon. He was my breast surgeon, not just because he had performed my Mom’s double mastectomy in 1997, but because sometime around 1998 (at the age of 25) he performed my first of 8 surgical breast biopsies I had had through the years. Somewhere around 2007 he suspected something genetic so he sent us for BRCA testing. It was negative. Now, with my confirmed PTEN diagnosis we had something concrete that required some forward motion. Quickly. He sent me for another opinion.

I gathered up all my pathology reports through the years, including the most recent “Atypical Ductal Hyperplasia” and brought it to the cancer center at NYU.

I look back now and am sure it is through God’s grace alone (well, combined with my husband who was often an angel on earth) that I stayed afloat. We had Meghan’s first, and extremely traumatic thyroid biopsy in January of 2012 after an ultrasound found multiple nodules. Thyroid cancer can come really early in PTEN patients, and in the spirit of things that eventually made sense, my thyroid had been partially removed in 1988 with a (now very logical) diagnosis of multinodular goiter. I mention this because, as you’d want to, Felix and I went together with Meghan to that biopsy. We soon learned that was not a luxury we could afford as his job was hourly and without sick time. I soon began traveling to most appointments alone.

As I walked into the cancer center at NYU for the first time a week or so later, I was coming in at the end of a work day. The few sick days that I had needed to be guarded carefully, and with Meghan having had at least 8 surgeries before 2011 and with me having had a few of my own. I was exhausted and overwhelmed when I met the bubbly red-headed no BS Breast surgeon. She did not beat around the bush. She told me she reviewed my history, my family history, my biopsies, and the PTEN results. “When are we scheduling it?” she asked as if she was talking about a haircut. Confused, I asked, “Scheduling what?” “Your prophylactic bilateral mastectomy.”

Um. Um… I so desperately wished I could just check out at that moment, but I was the only one in the room. I had to keep my head on straight.

I tried to challenge her. She was so matter-of-fact. She said, “We are not looking at IF, we are looking at WHEN you will have breast cancer. Let’s get in front of it.”

I remember trying to convince her I could wait until the summer. I remember explaining that it would make sense. I am a school teacher. I will have time to recover.

“March 5th” she was direct and authoritative. I didn’t argue. She sent me to her surgical coordinator and then to the plastic surgeon she did most of her operating room time with.

Mastectomy. Reconstruction? Tissue expanders? Inflations? Additional surgeries? There was no time for this. Meghan was scheduled for her 9th surgery in February. I could not even gather logical questions.

Somehow the plastic surgeon heard me and offered me “immediate reconstruction.” I didn’t even look at a picture. I had no time to consider aesthetics. I needed a return to normal with as much speed as we could muster so that my 8-year-old, who was looking at me as a view to her own future would see minimal chaos surrounding this surgery.

We got through the 4th embolization of my girl’s right knee during the February break as I began to make plans for what would be a 5-week absence from work. I did not have the days to cover that absence and we were looking at a serious financial hit. Plus, the fear of coming off payroll and the anxiety surrounding that was overwhelming to me. In NYC where I live, teachers can donate sick days to other teachers with very specific parameters. First, you need to have 50 or more of your own days. Then, you can donate at a 2-for-1 rate. This means for every 2 days donated, the recipient gets 1.

There aren’t many teachers that even have 50 sick days at any given moment in this largely female field where we are giving birth, and caring for our own tiny humans. But my dear friend Pat, whose generosity still makes me tear up, gave up 50 sick days. She gifted my family 25 days – 5 weeks at full pay, and more than that, the mental peace to recover from this life-changing surgery. She remains one of my angels on earth.

With that handled we pressed forward. And I remember waking up in recovery feeling almost empowered. Like I got to the cancer before it got to me.

I returned home and after a few days of careful babysitting from my own mom, I started processing my new reality. I learned there was a lot I could do with drains at my side, even a parent-teacher conference and closing to refinance my mortgage. But, I sure was glad I couldn’t drive yet, because the post-op appointment blew my mind. While I wish Meghan hadn’t been there for the live show, (she was smart enough to grasp too much of what she had heard,) I was glad I had Felix to keep me together.

The pathology, quite unexpectedly, revealed stage 1 DCIS, or Ductal Carcinoma in Situ. Breast Cancer. I had instinctively not spared my nipples, and in doing so saved myself another surgery. The cancer was far enough away from the chest wall, the margins were clean, and my move to “survivor” was almost too easy. Well, maybe not easy… but you get the idea.

Now all of a sudden everyone was in a frenzy, and when a screen of my uterus revealed a polyp, I found myself at a consultation for a full hysterectomy. I was dizzy but not able to stop this terrible spinning ride. My breast cancer had been estrogen-fed. I was advised to move forward with a complete hysterectomy and no hormone replacement.

On May 16th, just about 10 weeks after my double mastectomy I was welcomed harshly into menopause with a complete hysterectomy. Less than 6 months after a confirmed diagnosis I had undergone another invasive risk-reducing surgery. That polyp they were worried about had been benign, but had I delayed the surgery the plan was for uterine biopsies 4 times a year. That was something I was not signing up for.

And in the midst of all this, they found a ridiculous collection of hamartomas on my spleen. That’s where I drew the line by the way. My spleen, definitely 3 times the size it should be, is still firmly placed in my midsection where it is screened by ultrasound annually. I mean I’ll give it up if I have to, but 2012 had seen enough!

There was no time. There was just no time to breathe.

***

I sit here typing now, in August of 2026. I try my best to summarize the events of the last decade and a half, but I just can’t. Truth be told, we never came up for air.

Surgeries, tests, doctor’s appointments, MRIs, emergency room visits, screening testing, lather, rinse, repeat.

Mix that up with regular life and more than a half dozen very personal deaths, a global pandemic, an obscure foot injury, and surgery to add some hardware to that foot and it’s easy to see why we lost touch with almost everyone in our lives.

I barely turned on the television. I could not identify a musical artist, an actor, or an athlete if they sat down next to me.

All of which makes it really difficult to fit into any conversation. Anywhere. The isolation is remarkable.

***

Meghan challenged me to sit and see if I could write about ME. She asked me to put my thoughts about how being a Cowden’s patient has affected my life. I understand the assignment, and her challenge, the product of years of good therapy, (and maybe some good parenting- LOL) is important and noted.

The truth is it’s all blurry. I don’t see any lines.

They told us when we were first diagnosed not to let the disease define us. I’m convinced it’s not possible.

This diagnosis changes you.

I’ll try to pick it apart more, but for now, my thought is this. As a Cowden’s patient, I would have endured. I would have persevered. I am stubborn.

As Cowden’s patient and the MOM of a Cowden’s patient, I have been blessed with superhuman strength. It has been a gift and a privilege to everyday model for my girl, that it can be done. All of it. It all may seem impossible. It may always be harder than it should be. It may feel flat-out unjust, but it can be awesome. And when you claw your way up to the top of that mountain, and you are muddy, and torn up, and exhausted, you can rest a bit. You can pause to find your footing. And then, you should look around and soak in what you just got done. Never forget to appreciate the successes.

When the parent is also the patient there is a journey like no other.

When you both understand the scope of the positive effects you can have on each other though… that is where things really become remarkable.

And together we continue

#beatingcowdens

Foobs- When Cowdens Meets Breast Cancer

Published on July 20, 2026July 20, 2026 by beatingcowdens4 Comments

It was difficult to explain to the plastic surgeon how I had come to be sitting in his office this morning. The short answer of course, was that I wanted my breast implants evaluated for rupture as it had been three years since they were last checked.

The longer answer dredged up an awful lot in me.

In the fall of 2011, after years of medical issues, my daughter was diagnosed with Cowden Syndrome, a rare PTEN mutation that greatly increases the risk of multiple cancers as well as benign tumors, and vascular malformations. My diagnosis, as the carrier who passed that gene onto her, came a few weeks later. By all accounts it appears my mutation was de novo, and it went undiagnosed for 38 years.

When 2012 began, Meghan was 8 and I was 38. We both had complicated medical lives, and our diagnoses made sense. They connected a lot of ‘dots,’ but precious little was known by most doctors about what to DO once the diagnosis of Cowden Syndrome was made.

In the early months of 2012 I was sent to a breast surgeon to assess my risks in light of this new knowledge of Cowden Syndrome. I had been told a good deal of the cancer risks, including the upwards of 90% risk of developing breast cancer, peak at about age 40. I was closing in on that milestone, and I was reminded of that when I met the surgeon. She was a feisty red head who walked into the room armed with papers I had sent detailing the 8 previous surgical breast biopsies I had had dating back well over a decade.

I had gone to the appointment alone and was taken aback when she asked when she could put me on the calendar.

“For what?”

“A bilateral mastectomy.”

She was so matter of fact. I had lost my ability to speak temporarily.

“Your diagnosis, your family history (my PTEN negative mother had had bilateral breast cancer at the age of 48) make your future with breast cancer almost certain. I recommend you take care of this now.”

I remember trying to get her to agree on a summer date when she told me March 5th. I explained I was a teacher and I’d have time in the summer. She was undeterred. She sent me to her scheduler who set me up with a plastic surgeon where I needed to have a consult before March 5th.

I sort of remember the plastic surgeon. She was a tiny woman, kind in her soul. She explained all the reconstructive options in detail. I balked at each one wondering what no one was understanding. I was parenting a sick child. The sheer number of appointments and surgeries she needed left me marveling at how I still had a job. Coming into Manhattan for “fills,” and setting up ANOTHER surgery would not/ could not work. At the time my husband had a job with no sick days. If he was not at work, he was not paid. We carried two medical insurances to save on the co-pays that often felt insurmountable. There was simply no way to make this any more complicated than it was. I convinced her to reconstruct with implants that same day, despite her caution that I would not be happy with the results.

When the pathology showed cancer, a small spot of DCIS in the LEFT breast, a month after an MRI detected nothing, I decided I needed to just be grateful that the entire spot of cancer was removed and no treatment was necessary. Bullet dodged.

And just in time. My complete hysterectomy was scheduled for May16th of the same year!

Four years later, losing my MIND with agitation at the right implant, and sick of literally wearing a bra 24/7/365 to protect my overwhelmed sensory system, I sought out the counsel of a plastic surgeon. I looked for the surgeon who had been so kind to me in 2012. She was not “in network” with my insurance. Obsessed with keeping costs in check, I met with the only “in network” plastic surgeon from the same hospital. He was fine, and suggested changing the implants to see if it helped. I was desperate, asked few questions, and agreed in hopes it would calm things.

In August of 2016 he swapped them for a new set. It didn’t help. In hindsight the insult to my senses was most likely caused by tissue differences after a decade of surgical biopsies of the right breast. I kept the bra on and didn’t look back.

My “foobs,” a term we sometimes use to refer to “fake boobs” were the least of my concerns. My daughter, whose story is largely the one detailed through this blog since 2012, was constantly going through it with this damn disease.

I’d like to say her life calmed, and her medical issues settled, but they didn’t. What happened though, is somewhere along the way, decades of me tirelessly advocating for her made her a force to be reckoned with in matters of her own health. During her senior year of college, she made the difficult decision to remove her doomed breasts after they had begun to show changes and tumors. We used a few long weekends to interview breast surgeons, and she was led to a plastic surgeon. This surgeon, I was informed, accepts my health insurance coverage as out of network, and payment in full when it is related to genetics and cancer diagnoses.

When I saw the door to the office in the fall of 2024, I was transported back to 2012. I was in the same office I had been in, terrified and determined to keep my family afloat. I lost my breath for a minute, and recovered as quickly as I could. That appointment was not about me. And, the doctor was remarkable to Meghan. He was it seemed, almost inspired by her drive to get her own mastectomy done on her time table, and to not let any of it interfere with her acceptance to a Physician Assistant program.

Suddenly though, everything made sense. His associate was my surgeon from 2012. She was not “in network” and the chaos in my mind and soul during that window of time kept me from remembering the “payment in full” that they accepted from my health carrier. If I had remembered ANY of that, if I had not lost large portions of that window of my life to the sheer trauma of it all, most assuredly I would have been back with her in 2016.

Instead, I was left to give the shorter version to her partner this morning.

Brevity does not do this story justice.

The truth is, every piece of this Cowden Syndrome journey takes a bit of your soul. I raced through life from one crisis to the next for so long, that it took years for me to realize how atrocious my own reconstruction looked. I have spent almost 15 years looking straight ahead and avoiding mirrors.

When you are face to face with a plastic surgeon, it’s hard to know what you want them to say. This surgeon is not anxious to be the third surgeon on incisions that were not his own, and I can’t blame him.

So for now, we did an ultrasound and I have someone to verify the integrity of the implants. For today these “foobs” are strong.

The hard truth is that my aging body is allowed to exist because of choices I made. I meditate on that when I am really at a loss. Growing old is indeed a privilege denied to many.

I remain,

#beatingcowdens

The Glider- from Birth to Bilateral Mastectomies

Published on January 1, 2025January 1, 2025 by beatingcowdens6 Comments

The glider I added to my baby registry in 2003 was arguably the piece I cared the most about. I am not big on stuff, and am unimpressed by “fancy.” I am all about practical functionality.

That glider housed my wide bottom as I awaited the birth of our precious child as she took her sweet time to arrive 10 days late. It held our girl Meghan in the arms of countless relatives and friends who stopped by in the earliest days of her life.

I held her in that glider in the summer of 2003 when the east coast blackout left my sweaty postpartum body begging for some type of a breeze, as at just a few days old, clear signs of colic were showing.

That glider held us for story time and bottles.

The glider held the two of us for the better part of most nights, when despite being told I was spoiling her, every instinct in my body told me not to leave my baby. No matter how bone crushingly tired I got. I knew not to leave her when she was in pain.

And when I was so very tired that I was afraid I’d drop her I would strap her into the Baby Bjorn just in case, and tell her stories from memory, like “My Most Thankful Thing…”

There came a point where we couldn’t fit in the glider together, but even as I knew we’d never have another child and I donated most things, I never parted with the glider.

She snuck in there with me in 2011 when we were processing the news of our Cowden’s Syndrome diagnosis. She sat next to me in 2012 while I used that glider to recover from my “prophylactic” bilateral mastectomy that gave me a “surprise” diagnosis of stage 1 DCIS.

The glider stayed in her first bedroom when the middle school years moved her upstairs and I claimed her old bedroom as an office.

After our then puppy Jax decided the paint on the wall was irrelevant and he used the glider as a battering ram, we repainted and moved it upstairs to her new room.

Every once in a while she would read in it and let her fantasy books take her away from middle school days that were too cruel for words.

She recovered from Covid in that glider.

That one piece of furniture has so many stories to tell.

But this story, the one where I sit across from my 21 year old baby sleeping in the glider, this is one I wish it didn’t have to tell. Or maybe I’m grateful it can be told this way. It is certainly one of the times perspective is critical.

I have so many emotions right now, less than 24 hours after my baby had a bilateral mastectomy and is recovering in the very same glider that has been a huge part of our lives.

She walked into NYU at 1:30 on 12/31 armed with the knowledge that it was her choice to take some level of control of a life that is so often in a free fall. Breast screenings began soon after she turned 21 and a BIRADS 3 screen in August was followed by an MRI that just could not tell her all was ok.

“Probably benign” is not an acceptable finding if you’ve ever met Meghan, especially when it showed 7 distinct and some sizable masses. Already.

We met a plastic surgeon in October who immediately put her at ease. He walked in having read her history and said, “What can I do to help?”

The most current, albeit small, longitudinal study of 700 patients puts PTEN Breast Cancer risk at 91%.

Meghan pays attention. Her maternal grandmother who does NOT have a PTEN mutation had bilateral breast cancer at 48. Her PTEN mutated mom had hers at 38 with a history of 8-10 surgical biopsies spanning the 14 years prior.

A mastectomy was always part of her story. None of us realized it would be this soon.

Cowden Syndrome gives you the tools to screen for our many cancer risks. It also empowers you to not ignore them when those screenings fire a “warning shot.”

The plastic surgeon said pathology will tell the final story but her breast tissue, like so many other parts of her, was older than her 21 years.

Over these last few weeks as we have slowly shared the news of this upcoming surgery, without fail the people who Meghan admires and respects are the ones who have come forward to tell her how brave and smart she is. They tell her how wise it is to control this one thing, in a life that has been too full of unfortunate surprises.

Those who have judgment, or seek only to gossip should keep moving. The older we get the easier it is to sort out who we need by our sides.

I stare at my baby, all grown up in our glider, and I vacillate between sadness and immense gratitude. I despise the ferocity with which this syndrome has made every single thing harder. Yet, my heart bursts with pride as she just continues to overcome things most others cannot comprehend.

This is not her hardest surgery. That hell on earth took place in June, but this one also deserves some time to rest.

Rest my girl. You’ll start that last semester of college a little late, but you’ll be ready. Misericordia Class of 2025 and Misericordia Class of 2027- Master of Physician Assistant Studies. The medical field needs you – and plenty more others like you.

I hope when you sleep you feel my love, and the love of all who ever held you in that glider wrapped gently around you.

I am so proud to be your mom, and we are together…

#beatingcowdens

Tuck and Roll

Published on June 6, 2024June 6, 2024 by beatingcowdens2 Comments

Somewhere in the middle of Tuesday night when they were pulling blood pressures like 68/37 I started to adjust my head that we were not headed home Wednesday. I had hoped, planned and packed for Wednesday, but it was to be another “tuck and roll” kind of experience.

Overnight Tuesday was a different world from Monday. It was not because the pain was gone by any means, but because the pain care team here worked until they got her to a place where she could rest. You can’t heal if you can’t rest.

The problem with all these meds is many tend to lower blood pressure. Her’s runs low anyway. Those two things combined together to create a bunch of nervous PCAs, a whole lot of “redo” action by the nursing staff, and a bunch of pages to ortho and pain management. The good thing is she slept through most of that.

Over the last few days we have pieced together where a lot of the ancillary pain is coming from. Monday’s surgery was over 3 hours and had to be done with her face down. The bruising thought her chest area is extensive, and the numbness on the front of her legs can be attributed to this. Those things are likely to fade away well before the leg.

The leg though…

This surgery, although we knew it might be coming, kind of snuck up on both of us the week after Meghan arrived home from the semester.

This leg, and especially this tumor had been causing her grief since 2019. At the time she asked the orthopedic surgeon, who has been a regular part of her team since 2016, for an MRI of her upper leg. He agreed because anyone who knows Meghan more then 5 minutes understands that she knows her body, and something there was giving her grief.

When the scan was reviewed and the doctor started to brace us for an unusual finding, I remember Meghan saying, something to the effect of ‘Thank God you see it.’ As she showed him with her finger exactly where this beast was buried in her thigh. He was impressed that she was so on point as he verified with the MRI images, but not surprised. She was grateful for the validation that she was feeling a real “thing.”

The next few years we tried everything to get at this beast. First we tried ignoring it. Then we scanned. Then it grew. We asked about removal and were cautioned that it would be akin to “filleting” her thigh through a huge open incision. That was definitely not choice one.

By the summer of 2021 as she was preparing to leave for college, she had reached a place where this precariously placed tumor (in between the femur and the sciatic nerve) could no longer be ignored. We got a hematologist with an interest in vascular malformations to see her virtually the week she was leaving. She headed off to college with a script for lyrica. We tried to go slowly but relief wasn’t coming easily. Still, she did her best to do the things college students do, for better or for worse.

She is the epitome of, ‘Those who say it can’t be done should move over for the people getting it done.’

That year was for studying and for swimming and for trying to titrate a dose of this drug. It would likely not have mattered if it was a magic bullet (it was not) the side effects were just too much and by 2022 it was ditched and there was s new plan and a new interventional radiologist.

In 2022 and in 2023 – he worked to shrink this beast with cryoablation.

It shrunk the tumor a solid amount- by more than half.

But the pain. It has proliferated every aspect of her day to day existence. It is hard to know – until you know. Chronic pain changes you. This beast got in the way of anything that required too much moving, sitting, or just about anything else. It’s hard to be 20. It’s harder when you are trying to relate to people who don’t need pain meds just to exist. It’s like you’re side by side with them speaking two totally different languages. At some point you either learn the other language or move on. Very few people are fluent in pain.

This transition Meghan and I are working on, where I am trying to transition her into primary responsibility for her care, it is a delicate one. This year was difficult for Meghan for so many reasons, but the reason swallowing her up was the pain. I knew the call would come, and it did.

She called and asked me to schedule and MRI – just to see what was happening. She was stating that another cryoablation was not the path she would go, but she reached out to her interventional radiologist to try to troubleshoot the images. From his lens the tumor was markedly smaller, decreased by almost 2/3 from its original 4.5cm. He could not figure out why her pain was so much worse. He called and spoke with the orthopedic surgeon.

We got word that we should head to ortho to review his thoughts on the most recent images. We were expecting advil 800. He led with – Let’s get it out of there.

Tuck. And. Roll.

When it was almost 5cm he dared not touch it. Now at its current size he thought he could get it. One of the smartest men we will ever meet stared at her MRI images and described the constant pain caused by the location of this ugly beast. HE said to her, all the things SHE has been saying. He said that is in a terrible spot, between the femur and the nerve. He spoke of his access to nerve monitoring technology to ensure the motor nerves were not damaged. HE said she won’t feel relief until it’s gone and cryoablation took us as far as it could. I swallowed hard.

I knew at some point she’d need to let him try. Too many things stood to get BETTER if she got THROUGH to the other side. The surgery now on a markedly smaller tumor was going to require a smaller incision and made it seem attainable.

And before I knew it the surgery date of June 3rd was set.

The only way out is through.

So here we are. Night 3 in the hospital. Another additional dose (on top of her heavy regimen) just got administered as the pain started to creep out of control again.

She needs to move before she can go home. She knows. She needs to move because it is just better for you. She know this too. And she will, but she can’t yet.

There is no frame of reference for this surgery. It’s nothing typical. There is nothing to base the experience on. Just Meghan. We have to let her body lead.

Occupational Therapy got us through a wardrobe change and a move to the chair in the room.It was a 20 minute session of activity. The muscle spasms on the back end of that, would have been enough to make me want to stay still forever.

But tomorrow she will move again. Residents and rounds and PT and OT will visit. The pain care team will come too. What I’m almost certain will not come are our discharge papers. And that is ok. As much as I am desperate to leave, I can not take her home too soon. There are times in our lives where we have to tuck and roll. These times are no strangers to us.

On Monday the surgeon dug in, literally to the bone and extracted two inches of muscle along with this tumor beast.The hope is that once this very ugly painful time passes, that maybe the tumor pain, and the chronic sciatica, and all the other ugly after effects of this beast will go too.

But,not today. And not tomorrow. I am trying my hardest to trust the process….

I am working on managing expectations. My goal is to find a sweet spot in this parent recliner…

The last of the dilaudin is in. That is my clue to close my eyes….

#beatingcowdens

Desperate times…

Published on October 10, 2019 by beatingcowdens4 Comments

I took the knee scooter to the mall.

I brought my husband. Well, technically he brought me. And he lugged the giant contraption down the stairs and into the back seat of our “big enough for most things, but not this thing” Sonata.

The screen on his iPhone had cracked and he needed to go to Apple. I needed an outing worse than a puppy who has been crated too long.

He dropped me off at the door. He rode the scooter through the parking lot to meet me. Apparently, like so many other things, its a LOT more fun when you don’t need it.

I laughed in spite of myself at the sight of it. I was also glad our teenager had decided to stay home. The sight of it all would have likely been just too much.

People stare right at you, while simultaneously judging you as you drive this thing. The local mall lacks the tolerance of Disney World. In fairness, from face on, it looks like you’re using wheels for fun. It’s not until I have passed, if they bother to look, that they would see the giant walking boot resting on the knee pad.

Today is 8 weeks and 1 day since I’ve been “booted” again. 57 days.

I have had more surgeries in my life than I can count. Not a single one of them kept me down for 8 weeks. This foot has been messing with my life for over 8 months.

Double Mastectomy – back at work in 5 weeks.

Hysterectomy – back in 2 weeks.

I once had arthroscopic knee surgery over a long weekend, and was back on the 4th floor in my classroom the following Monday.

Vascular, over the February break…

Biopsies, a day tops…

We always say recovery pain is the best kind, because you know it’s going away.

And yet the answer to “Does your foot feel better?” still remains “Not really.”

My kind and compassionate local podiatrist, in a combination of frustration at the injury that won’t heal and my insurance company making it harder for him to treat me, has advised a visit to Hospital for Special Surgery. I’m sitting. Foot up, phone in hand, waiting to try to schedule.

I rode that knee scooter all over the mall. I rode it into the grocery store too. Quite simply, I’m tired of being locked in my house. It is truly a ridiculous and ingenious contraption.

If you asked me 2 years ago if I would ever… the answer would have been “NO WAY!”

Except if I keep learning anything through these years of life with a rare disease, and also just life, it seems to be” never say never…”

I had a boatload of things I wasn’t going to do as a parent. I’m pretty sure the first one was undone about three hours in… right after the anesthesia from that c section wore off…

Wasn’t going to… feed certain things, watch certain things, give certain things, etc. etc. And then you find yourself learning that all the plans in the world are suddenly invalid as you just try not to damage the tiny human.

A great deal of my pride was left behind in the OR where she was delivered.

I lost a bunch more of it through a slew of breast biopsies prior to the double mastectomy in 2012.

The uterine biopsies, the hysterectomy, the “cancer screening” human exams took a bunch more.

And there are few things quite as humbling as a breast MRI of your silicone implants.

I was never “in fashion” but I used to take great care in what I wore. Things were dry cleaned. Stockings and heels were worn daily.

Then there was back pain that seemed only better in sneakers. Coupled with a significant weight loss my wardrobe evolved into jeans, t shirts and sneakers. May be a dig at my early judgment of “too casual” teachers…

Life, at it again…

If we are open, and able to be introspective, we are changing and growing all the time.

I am in a painstakingly slow process of relinquishing control.

Control is really largely an illusion anyway.

Faith, trust, hope, and the ability to embrace what the future has in store, these are my current goals.

I’m a work in progress.

So if you see me and my knee scooter, be kind. You may even see me up and down the block. These are, after all, desperate times…

We’re done being caged up. I need some fall air. I am ready to get well. Since my foot isn’t cooperating, I’ll start with my mind.

#beatingcowdens

Experience Dictates Your Reality

Published on January 20, 2019 by beatingcowdensLeave a comment

I usually have a plan when I sit down to write. Typically there is a topic, or a concept in my mind or on my heart. But, as is clearly evident by the two months of silence on this page, I’m struggling.

Having a PTEN Mutation, and being the mom of a young lady with a PTEN Mutation of her own has been nothing short of life-changing. Things that happen in our lives change the course of our travel along the path. That statement is not even intended as a judgment, just a factual statement that most people can relate to.

Sometimes when we are talking in the car, my girl and I play the game of “what if?” It can be a dangerous game, or it can be cathartic. For us it is typically the latter. No matter how many ways we can come up with that things “would have” or “could have” happened, we are always sure that we have become who we are because of the turns our road has taken. And, on most days, we like ourselves.

Experience does dictate your reality, though.

Two or three people observing the same thing will interpret it to some extent based on the experiences that have brought them to this point in their lives. That is neither a bad thing or a good one. It simply is. And to understand each other as humans, it is something we need to recognize.

One of Meghan’s Christmas gifts was a T shirt that says “Humankind- be both”

It was chosen for her deliberately because it is something she believes and aspires to. being in a high school experience where she meets many young adults from a variety of life circumstances, she is developing an even deeper understanding of the situations in our lives that create who we are. She is happy there. She is accepted there. Life stories are understood, and often unspoken.

Where we have been, what we have seen, and what we do with those experiences are such an integral part of our lives. Many of them we can control consciously and fully, while others take a lot more work to harness. The hardest things to get control of lie deep in our own hearts and heads.

The day after Christmas we made the gut-wrenching decision to put down our Lucky girl, a lab/ border collie mix that had been a part of our family since Christmas in 2005. There was sparsely a memory Meghan had that did not include Lucky. And the absence of the clicking of her paws and her animated noises leave our house a way too quiet.

We have our beautiful April, a mutt rescued very quickly after our beloved Allie passed away in December of 2014. Lucky needed April to distract her from her own broken heart. And she did an outstanding job. April is finding herself now, as an “only” while we all navigate through a new phase of life with one dog.

If you have lost a pet you understand the gravity of the loss and how it changes the dynamic of the family. If you have not, you’ll have to trust me. Or not. It’s up to you.

Three of us, well four if you count April, are grieving Lucky’s loss. Yet, we are all doing it differently. Lucky lived here, but she was Meghan’s dog. She came in to our lives when Meghan was only 2. Experiences were different for all of us, yet the depth of the loss runs deep.

Experience and personal reality are intimately connected.

Almost two weeks ago I fell at work. Hard. It was so frustratingly avoidable. I caught my foot on a child’s chair. My brain and my feet were not communicating. There was nothing to break my fall except my shoulder as it hit the base of another chair.

I stayed on the floor for a few moments trying to recover. Looking up at the faces of 30 third graders gasping “Are you OK?” I knew it was essential that I at least look the part rather quickly. I got myself to my feet, mumbled an independent assignment for them and got to the phone to get some help.

After completing paperwork and gathering some ice, I was sent out to seek medical attention. After spending a few hours having x-rays of a foot, two knees and a shoulder, I was sent home to ice and rest. I was also told to contact my plastic surgeon.

No it was not a disfiguring fall, except part of what broke the fall was also the right breast implant. The one just under the still slightly off-color shoulder. It felt very “off” and it was impossible to ascertain whether the fall had somehow caused the implant to rupture. I needed an MRI.

I could not get any associate of my surgeon to physically see me. The fall was on a Tuesday, and my doctor ONLY sees patients on Monday. So I was left to schedule the MRI and wonder.

The looming appointment was not nearly as bothersome as the wonder.

People fall every day. Depending on age, physical fitness, the circumstances of the fall, they will all have a different reaction. If you have a PTEN Mutation, which led to a breast cancer diagnosis and a double mastectomy at the age of 38, and that double mastectomy was followed by silicone implants, which already had to be replaced in 2016, and you fall on and near one of the implants from a height of about 5 foot 7, well your reaction might very well be to worry about that implant. Mine was.

I just wanted someone to look at it. I wanted someone to tell me the visible changes were not to be worried about. But, no one would do that. So I was left alone, home healing, with full access to the internet.

DANGER.

While I have learned a good deal of what I know about my body and Meghan’s through skillful sorting through ‘fake’ and ‘real’ information, equally available on the internet, I now had plenty of time to investigate what had been a mention weeks earlier in one of my on-line support groups.

Breast implant associated anaplastic large cell lymphoma, or (BIA-ALCL) is something I never heard of until it was brought up in discussion by another patient with Cowden’s Syndrome. I now had all the time in the world to fully investigate and I was getting furious. While I do not put my faith fully in any source, I will link in FDA pages here. A careful eye will notice that most links when searching this condition are plastic surgeon sponsored.

https://www.fda.gov/medicaldevices/productsandmedicalprocedures/implantsandprosthetics/breastimplants/ucm239995.htm

https://www.fda.gov/medicaldevices/productsandmedicalprocedures/implantsandprosthetics/breastimplants/ucm064106.htm

For those of you interested, clicking the links above is likely to give you information you never heard before. Unless maybe your surgeon was much more forthcoming than mine.

I was relieved to learn I had the “smooth” textured implants, the ones least likely to lead to BIA-ALCL. I was disturbed to read the FDA recommendation the implants be evaluated via MRI 3 years after initial surgery and every 2 years after. No one had ever mentioned an MRI to me post mastectomy. Ever. But that shouldn’t be a surprise. A complete search of all my paperwork from the initial implant surgery and the revision failed to uncover ANY documentation of ANY potential additional cancer risk. Being diagnosed with a condition that had greatly increased my likelihood of so many cancers, I may have thought things through differently. Maybe I would not have. But regardless I would have felt as though I had made informed decisions.

Now I was just mad, hurt, and violated.

And, I was dealing with a trauma to the area surrounding this foreign object in my body, causing visible swelling, with no one to calm my angst.

By the time I got the call post-MRI that there was no rupture, I also read the report that said basically nothing other than the stability of the implant was evaluated. A wordy disclaimer.

Risk of BIA-ALCL is rare. There is no documentation as to whether our subgroup is any more affected.

It doesn’t matter anymore. I will at some point in the not so distant future move to have these objects removed. “Superfluous tissue” is what my mom called her breasts 22 years ago when they were removed. She never had implants. She’ll be 70 next month and is feisty as a firecracker.

I think I found my motivation to stay thin and spry.

Our experiences influence our reality. All this from an unfortunate fall. Even as I sit here almost 2 weeks later, the pain in my foot telling me I’m not sure there is not an un- diagnosed fracture there, I have to wonder if that fall was that unfortunate after all.

I decided finally on a primary care practice. I stopped looking for one who knew or cared to know anything about Cowden’s Syndrome. Instead I found one capable of screening me for the things any 45 year old needs to be screened for. I think I may finally be at peace with that decision. I had “well-visit” bloodwork Saturday, and I will have my visit with the staff’s FNP on Wednesday. I will talk to her about my basic asthma and allergy medications, as well as the script I usually hold for occasional migraines. I suspect all that will go well.

Then I will talk to her about the fluid in my right ear. The fluid that has been there for at least 5 months. An ear ache in early September brought me to urgent care. That repeated 3 more times, in October, November and December. Each time there was an antibiotic. Once there was a referral to a sub-par ENT who have me a steroid. Sometimes the fluid leaks out of my ear while I sleep. Sometimes I swear its finding it’s way out of my eyes.

My mother has terrible sinus problems. She has since she’s been my age. It’s probably rotten genetics not PTEN related. Mucinex keeps me away from infection and eliminates the pressure for 4 or 5 hours at a time. But this many months of Mucinex has a tendency to make the spleen angry. And I don’t want to get sidetracked talking about those splenic lymphangiomas.

I want an MRI of the sinuses. I want to know nothing sinister is going on. Then I want to see the ENT who did the surgery to save my voice 2 years ago. I’m hoping we can get that process started on Wednesday.

The calendar is foreboding. We are heading into a doctor cycle – both of us. And while I am grateful for the lull, I get familiar feelings of anxiety and dread as I lock the long afternoons in traffic into the calendar.

My daughter has the formal diagnosis of Post Traumatic Stress Disorder secondary to medical trauma. There are people who like to pass judgment on that. I wish they wouldn’t.

Her service dog will come eventually. People will have a lot to say then too. I won’t notice because I will be exuding gratitude at all times.

Everyone you meet is fighting a battle you know nothing about. Be kind always.

The struggle is real.

Experience dictates your reality.

The trick is to realize while everyone leads a different life, that reality is the same for all.

Humankind – be both.

#beatingcowdens

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

Published on October 21, 2018October 22, 2018 by beatingcowdensLeave a comment

I’m aware of Breast Cancer. As a survivor now of 6 years and the daughter of a 21 year survivor, I am aware as I dry from my shower facing my mastectomy scars every morning, that breast cancer is reality. As my Facebook feed and my memory are both too full of those we have lost and those who still face this disease, we are aware. What I wonder, is how much help is the awareness? It is a topic that could be debated forever, but I’ll change gears first.

Something else I am very aware of is the PTEN gene located on chromosome 10q23, and the perils its associated mutations can cause. So when the PTEN Foundation let us know that 10/23 was designated PTEN Awareness Day, we were all in.

This blog has, for years been designated to the ups and downs of this mother- daughter duo dealing with Cowden’s Syndrome, the diagnosis we both received in late 2011 after a PTEN mutation was first diagnosed in Meghan, and weeks later in me.

The few years following were an absolute whirlwind of appointments, scans, screenings and surgeries. We worked to keep our heads above water and just exist. We considered keeping my job, and maintaining honors status in her school quite the accomplishment.

We were told things over and over, like “don’t let it define you…”

I’ve got some news for you. You can only walk so far into the fire without retaining the scars.

True awareness of PTEN for us comes with comprehension of the gravity that you have to remain in a vigilant stance of preparation, awaiting attack from your own body at all times. PTEN patients have ridiculous cancer risks pretty much all throughout, and the VIGILANCE required to stay ahead is utterly grueling.

We are faced with choices to keep the most high risk organs, or remove them prophylactic ally. We are asked to play the odds. With our bodies. All the time.

With Meghan the AVM (Arteriovenous Malformation) in her right knee, though quiet now, has caused damage she will deal with forever. She is 15. God willing she will walk on those legs another 80 years, each day aware of the pain, and of the symmetry removed from her body forever.

When you have to be vigilant, you have to plan. There are trades. You have to decide if you’ll miss school with friends and fall behind in classes or give up the breaks designed to recharge you.

There are no breaks. February – months away has 3/5 of its break and 2 other days devoted to appointments. Martin Luther King Jr. Day in January. Yep – that one too. Don’t worry, the brain MRI is scheduled for April break….

You have to pick and choose. And the decisions are hard. You want to give it all to everything, but HOURS of your world are wasted in bumper to bumper traffic, waiting for the hopeful news that you have another 6 months before you come back. And if, in fact you don’t get that news the schedule is tossed and it’s game on for scans, analysis and biopsies.

The pain. No one can really tell us yet from why, but it seems to exist throughout. The fatigue. Maybe the thyroid issues, maybe some immunological stuff. Maybe some connection yet to be determined. But it’s real.

It’s as real as the number of times we had to decline invitations before most people stopped asking.

We’re not blowing you off. We’re holding it together – by a shoestring.

Chronic Illness is hard to live, and we get that it’s difficult to watch. But, it’s real. And short of a cure, it will never “run it’s course.” It will not BE us, but it will be PART of us – FOREVER.

“You don’t look sick…”

“You don’t look anxious…”

No, as a matter of fact she looks strong and determined. She’s been practicing for quite some time.

Sometimes I have to bite my tongue to keep from replying, “You don’t LOOK ignorant either – but at least you can fix that if you WANT to…”

Our rare disease journey has opened our eyes to not only PTEN disorders, but “Lhermitte-Duclos disease,” “Nail-Patella Syndrome,” “Lynch Syndrome,” “Spinal Muscular Atrophy,” “Muscular Dystrophy,” “Neimann- Pic Disease,” ” Neurofibromatosis,” “Acute Myeloid Leukemia” to name just the very tip of the iceberg. I am more aware than every that everyone struggles.

I’m also a big fan of real pure awareness, for the sake of learning something about other humans I share the planet with.

One of the humans I share my home with has grown up in a totally different direction courtesy of this disease. And while I am grateful for her diagnosis, as it surely saved my own life, I am sad that she has had to see so much, and manage so much already in her life.

So today, on 10/23, if you’re not living with it yourself, direct yourself to http://www.PTENFoundation.org, or the PTEN Facebook Page and learn an little more about PTEN.

My own girl is working every day to make herself better, physically, mentally and emotionally. When I have down days, or I just don’t feel well, she reminds me to forgive myself. “You have it too Mom.” Indeed I do, and it’s quite a ride…

“Prep for the Climb” Disney’s Hollywood Studios

Together we prepare for the climb each day – and seek out that ‘One Perfect Moment’

For as much as this disease has taken, I am grateful that she is starting to take back control, and is finding her voice as an advocate for herself and others. (And I love listening to her sing too…)

#Beatingcowdens

Bring It On the Musical – One Perfect Moment Lyrics

2012 Broadway
Bring It On the Musical – One Perfect Moment LyricsI’m not freaking out, I’m really okay
I’m totally chill or I will be someday
‘Cause I’m so near the top but there’s so many mountains to climb
There are plans to be planned, drills to be drilled
‘Cause this dream that I’ve dreamed is becoming fulfilled
And I plan to enjoy it but right now, I don’t have the timeFade in on Campbell, an average teenager almost grown
Close-up on average grades from the average life she’s known
Now zoom in the lens on the rest of her friends as she stay alone
Doing the work, getting it right

‘Cause I know we’ll have to be practically perfect
So I’ll go above and beyond and pull through, this I can do
All that I’m asking is one perfect moment in time

I’m seventeen, there are so many things that I can’t control
If I start to freak, or feel weak, I focus on just one goal
Turn down the panic, attack this routine like it owns my soul
Turn up the music so loud that it swallows us whole
And then there we are, we burn like a star
We’re safe inside the world we know
Then suddenly I’m in prep for the climb and here I go
High in the air, there is a moment just before you start to fall
Live in that one moment

I know that if I can just stick the landing
Then I’ll know that somehow my life will be fine
And I’ll go through the rest of my life understanding
What it feels like to shine
The future’s full of mysteries
So please let this be mine
My one perfect moment in time

Forever…

Published on July 20, 2018July 20, 2018 by beatingcowdensLeave a comment

When I married my husband I committed to forever. It was a good call.

When we decided to have a child, we understood she would be our baby forever. No regrets.

But some time in the fall of 2011 a doctor diagnosed both of us with a rare genetic disorder. This forever, well, this one we did NOT sign up for.

At first there was no time to process the concept of forever as it connected to Cowden’s Syndrome. There was too much to do.

Neither of us had an “easy” medical history, so putting a name on it had its pros and cons. But, we were handed lists of appointments to make and things that suddenly needed immediate attention. We were quickly schooled on tumor growth and cancer risks. We were told to remain vigilant, and that we would be “fine”.

There was no time to process as 2012 had a traumatic thyroid biopsy in January and an embolization for her Arteriovenous Malformation (AVM) in her knee in February. Then, there was my double mastectomy and my “surprise” cancer diagnosis in March, followed too closely by my hysterectomy in May. And soon after that hysterectomy, Meghan had breast, pelvic and kidney and bladder sonograms. There was also another MRI of the knee, and two thyroid ultrasounds that brought in 2013 with a surgical thyroid biopsy.

2012 was salvaged largely by a third grade teacher who I swear was an angel placed in our path. Because there was real life too. There was work, and school, and activities, and appointments that were quickly starting to overwhelm.

There was probably close to 2 years after the initial diagnosis before I even looked up. And, when I did I had a whole host of emotions.

Forever had taken quite a toll on my girl. Tough as nails. Driven. Strong. Focused. Always. But, apprehensive, concerned and full of worry she was way too young to have to shoulder.

Forever. I did my best to keep as much “normal” as I could. Early therapists cautioned not to let the disease “define” us. I kept the schedule delicately balanced between the necessary medical screenings and the “fun” activities. She needed to be “like everyone else”. So there was swim, later theater, some voice lessons, all interspersed with surgeries too many to recount again. Some traumatizing, some annoying, some isolating, and some worrisome. All time-consuming. Some required physical rehabilitation, and others emotional.

Forever. The highway became our bonding place. She could read and do some homework in the car. We scheduled appointments on holidays as often as we could. We scheduled appointments after school. It made for some long days- often traveling 2 hours each way, and waiting forever in the offices- but we did it to preserve school attendance, and to keep her at as many activities as we could.

Forever. She grew up. Not just physically, but mentally. She has broad shoulders, literally from hours of butterfly, and metaphorically from carrying way more than she should at her age. The knowledge that this is her forever is difficult for all of us. We make the best of it. We talk about how grateful we are to know what to look for. But, that gratitude, while sincere, can never replace the innocence of youth. Innocence lost. Forever.

Forever. The wait time at most appointments is close to forever. No one typically knows what to say to us. They look at what they need to. They offer some empathy, sometimes. Then, sometimes out loud, and sometimes in their heads, they show gratitude that they are not fully responsible for us. We wait hours and hours so often. We have learned patience. We have learned to quietly accept that if they “google” us before, it means they actually care. We are rare. We are 1 in 200,000. This diagnosis is forever.

This summer we have already gone to our 16th appointment between us. There are 4 more just next week.

Yet, this summer she performed with a wonderful, talented, warm and welcoming group of young people at Staten Island Children’s Theater Inc. in a production of “Legally Blonde Jr.” They like her. Some of them know what she does with the rest of her life, and others don’t, and it’s all okay there. They give me hope that some people, teenage people and adults as well, are just good people.

She has been at swim practice most mornings between 6:15 and 8:15. She has spent this week in small group lessons for swim from 8:30-3.

She has accomplished a good deal of her summer work for school. She had peppered in the appointments in the crevices hidden in the schedule.

Forever. The reality is not lost. But, I am so proud. So proud of how hard she works to stay in this world, while living in the world of chronic pain and rare disease. It is hard work. She does it pretty gracefully most days.

Forever. Perhaps I could use a lesson or two from her.

Somewhere in the midst of this medical whirlwind we live. Somewhere in the midst of working full-time, and managing surgeries and appointments, and life as it happens to all of us, I have lost track of myself.

Forever. I have one speed. I operate in constant motion, or I am asleep. There is rarely any middle. The yellow legal pad is to the right of my computer, capturing every thought. The iPhone calendar alerts me to the plans of the day. My house, although not as clean as I’d like it, is in constantly good order. It is a control issue. I will own it. There is so much flashing by in the blink of an eye, I can be sure to get the dog fur off the floor once a day, and know that it actually got done.

Forever. I’ve lost touch with most of my friends. Life is busy, theirs and ours. There are only so many times you can tell the same story to people. Our story could be recorded. It just repeats itself. Doctor, testing, surgery, follow-up, rehabilitation, next body part, routine appointment, maintenance, worry about a potential problem, 6 months to watch it… I used to have other things to talk about. Now I would be one of those people I used to laugh at on night-time TV. I am so out of touch with the world. My experiences are significant, but without variety. They are heavy and too much for most people to hear. There are no answers.

Forever. The summer will pass. We will force in a vacation and we will hold those days to be without doctors, and without summer assignments. Then, we will do our best to put our feet in sand once. Just to listen to the water. We will try to get a few people to swim in our pool, so the activities of opening and closing it are not totally futile.

Forever. Life is busy. Too busy. And that’s not just a Cowden’s Syndrome thing. I heard of three deaths this week. All three tragic. One at age 19, one at 31, and another a bit older. Tragedy. They had plans. They did not think their forever was going to end this week.

Forever. My conscious mind doesn’t need but a split second to list dozens of real and significant blessings. There are countless things in my life that bring me to my knees in gratitude. But, the inner conflict is strong. With the knowledge of the wonder and beauty in my life, I should be able to take this diagnosis, this “Forever” that is Cowden’s Syndrome, and put it in its place.

Forever. The struggle is real.

Forever. Stopping to find the moment, and to embrace the joy right now is not as easy as it sounds. I can talk the talk better than anyone. The raw truth is that I can not always walk the walk.

Our Cowden’s sisters and brothers span the globe. Estimates are about 1,800 of us are in the United States. I do not know the world numbers. I know some of the people though. One in Australia just underwent 2 MORE brain surgeries a few weeks ago. Another, a teen who is with her Mom in Cleveland right now is waiting for news that is surely churning mom’s heart.

Forever. It’s such an arbitrary concept sometimes. I became a wife with the intent of forever in my heart. I became a mother with that same intention. But Cowden’s Syndrome threw forever at us. It’s got the same dictionary definition, but not the same feel.

Someone asked me recently why I can’t just take time off, or block my appointments so we have “breaks”. The truth is, I try. Doctors want what they want in terms of follow-up, and being vigilant means I need to comply. Most visits run us a minimum of 4 hours round trip. Many can not be “stacked”. I have a full-time job. I have a high school honor student. We need to be at work and school. I suspect those who ask are just trying to help. But, it makes me feel like maybe if I just tried harder…

Forever.

It took me 7 weeks to write this post. My attention span is not what it used to be. I have a whole lot of reasons to keep making this work. Forever. I am blessed. I am grateful. I am tired. I am human.

This blog was started in hopes that people stumbling upon it would read the story of a real family, fighting the same thing they are. With that comes real, raw, and honest emotion.

Forever is beautiful when you connect it to things you signed up for.

Forever is not so easy when it connects to a rare disease that wants to grow things throughout your body.

Forever. It is promised to none of us, that forever will last longer than today. It is our decision what we do with the gift of the time we have.

I am a work in progress. I am a wife. I am a mother. I am a survivor. I am worth the hard work.

Today I will start by opening all the blinds. Time to look at the sunshine. Time to look at the blue sky and the flowers. Time to breathe. In and out.

One step at a time.

We will remain

#beatingcowdens

Forever.

Superfluous Tissue

Published on March 4, 2018March 4, 2018 by beatingcowdens3 Comments

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

Published on February 27, 2018February 27, 2018 by beatingcowdens2 Comments

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:

adjective, rarer, 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.