Rare Disease Day 2025

Published on February 27, 2025 by beatingcowdensLeave a comment

This is technically our 14th “Rare Disease Day,” since our PTEN diagnoses came in the fall of 2011, but if I am fair, the entirety of 2012 was such a blur that I feel like this is more like the 13th year we were consciously aware that “Rare Disease Day” is annually celebrated on the last day in February.

If you search the files of this blog you will find that in 2014 we did some Rare Disease outreach at my school, and in February of 2015, 2016 and 2017 we held successful fundraisers for the PTEN foundation that supports our own rare disease PTEN Hamartoma Tumor Syndrome, or Cowden Syndrome as it is often called.

We ran one more fundraiser in October of 2018. Then we stopped hosting.

It was not for lack of desire. But, rather for the difficulty that came with filling the room. Rare Diseases, if you are lucky, (yes, read that again) are also chronic. And people have lives and experiences and other things to tend to besides annual events for what was going to be a fact of our lives.

And, truth be told at an average of one or more surgeries each year, things got tricky to manage on our end too.

“Let us know if we can help,” became a most cringeworthy phrase as I retreated into a deep hole of survival, fight or flight, and often downright depression. How could I pick up a phone if I sometimes struggled to pick up my head? And could I expect people to keep showing up when the story was the same? The times in between surgeries were sometimes even worse. The anticipation of an appointment. The worry about the next scan. I often didn’t want to hear me speak.

Tumor, surgery, pain, isolation, therapy, recovery. All heavy. All the time.

It’s been over 6 years since that last fundraiser. I sometimes feel guilty. Then I force myself to feel proud of what we were able to do when we could.

More times than not this journey has felt like climbing one of those rock walls. Except a real one. Where hanging on was literally for dear life, and the harness was hard to find.

This last year has tested Meghan and I, and Felix as well. It has tested relationships in all of our lives. Her surgery in June of 2024, well documented here was by far the one that was the most traumatic for me. If I close my eyes at just the wrong time I can still hear her screaming during the longest hospital stay in over a decade. The physical pain has been hers to manage, and she does so in ways that consistently blow me away. The emotional pain, of watching your child suffer… that one is a special kind of hell. If you know, you know. And if you don’t, I will never wish it on you.

The double mastectomy, just barely 2 months ago, was well documented as a necessary move on that 9 page pathology report. PTEN patients have a 91% lifetime occurrence of breast cancer, and my PTEN kiddo was able to couple that risk with 2 first degree relatives, her grandmother at 48, and her mother at 38. My daughter is a smart, focused, brave, and driven woman. This one is a different kind of recovery, one where the physical pain is less but the emotional upheaval of adjusting to your new body at the age of 21 is very real. Scars take time to go down. Things take time to settle. But, waiting in and of itself can be torture.

Ours is just one PTEN story, of the 1 in 200,000 people across the globe diagnosed with a PTEN mutation and the effects of the mutation in each body run a wide gamut. Rare diseases are generally underserved because studying us is time consuming. Massive cuts are a reality and we are not a priority. The PTEN family lost our brightest advocate Dr. Charis Eng in August of 2024 and all of the PTEN foundations across the globe despite obstacles, continue to press on with urgency, in her honor and for the betterment of us all.

Ours is just one rare disease story. You know people with rare diseases. You may even be one of them. I have learned more about rare diseases since our diagnoses. I know the names of syndromes, and most importantly the people behind the stories.

This year on Rare Disease Day, when we are asked to #ShowYourStripes, tell your story. And, if you don’t have a story to tell, reach out and let someone tell theirs.

Alone we are rare. Together we are 300 MILLION strong. And we matter.

#beatingcowdens

Status Update…

Published on July 17, 2024July 18, 2024 by beatingcowdens1 Comment

We met with the surgeon for Meghan’s follow-up visit yesterday. He was so pleased with her, and with how incredibly hard she is working to recover. He is amazing, her orthopedic surgeon. He is humble, skilled, and focused, yet he speaks directly to her, meeting her questions with sincerity and validating her in ways that are literally life-changing.

You can go ahead and read that again. Validating her in ways that are life-changing. I use words to express myself and to tell our story, but I had gone largely quiet for a long stretch. You run out of words to reiterate pain. You run out of ways to explain to people that she is not better. You end up in a place where you are essentially making apologies for the discomfort your situation causes other people. You find yourself hiding.

There had been medication trials, embolizations and cryoablations, and an angiogram to attack this tumor. There was some lessening of the pain, but no relief for any real time. The pain always came back with a vengeance.

She stepped away from one thing after another in her life. Who can socialize in pain like that? Walking was excruciating, and driving was a formidable task since even sitting was painful. The pain wrapped her up in a tight ball. It mangled her hopes and messed with her dreams. It left her physically ill and a shell of herself. She put every ounce she had into maintaining her grades and surviving. People, some patronizing and some incredibly well-meaning suggested everything from her “just being depressed” to her being dramatic, to her needing to just push more. I’m confident not a single one could have managed an hour in the body she was dealing with.

When we went to see this doctor in mid-May (he’s been in the rotation since about 2015 and has done a few of her knee surgeries so we are not strangers) I expected he’d prescribe Ibuprofen and send her on her way. Instead, he sat at the MRI images on his screen and described the debilitating pain that the images he was seeing must be causing. He talked in detail of numbness, burning, pain with any movement, muscle spasms that this thing must cause… it was like listening to someone else tell me all the things she had been saying, and sometimes pleading with anyone to listen to. Validating her in ways that are life-changing. There is a power in being believed that cannot be understated.

The decision to remove this tumor was not arrived at easily. As a matter of fact, in 2019 we were told it was essentially inoperable as he would need to open close to 10 inches of her leg. The tumor at that point was 5.5cm. We needed the embolizations and the cryoablations to shrink it. And they did. But, they also left behind little pellets from the embolizations, and excessive scarring from the cryablations. That sent the pain into high gear as her body has never taken kindly to ANYTHING extra, however, those necessary steps took the tumor down to just under 2cm. But every time there was a surgery and she didn’t feel better she felt like a failure. My girl doesn’t like to fail at anything.

This time it looks like we are finally on the right path. The 2 square inches of muscle hollowed out of her leg included all sorts of things that just like Meghan, “don’t fit in a box.” But by removing them, and getting a clear margin on this benign tumor, the surgeon was able to close her 4-inch opening from the femur back up to the skin and leave only healthy tissue behind to do its thing.

The days following her surgery are chronicled in the last few posts, and etched permanently in my soul.

But there has been progress. There is a fresh new Physical Therapist who is working hard to ensure that the scar tissue Meghan’s body loves to overgrow does not get out of hand. There is an increased range of motion. She can walk some distances unassisted on her best days. On the others, she’s furniture-dependent, but we’ll take it.

There are still muscle relaxants, but less of them. Some days the Advil is at 400mg doses and other days 800mg. She started sleeping in her own bed (upstairs) this week! 🙂

Some days are better and some days really stink. There are ups and downs. There is Physical Therapy three times a week. There is the EMT course three nights a week that she, by her grit and raw determination is still making happen.

So I leave you with this progress note. And thanks to those of you who have consistently checked in and followed us through this dark time. There is nothing like sitting in the depths of despair to shed clarity on who your people truly are.

#beatingcowdens

Recovery Room- The Waiting Place

Published on June 3, 2024 by beatingcowdens4 Comments

The recovery room is the land of mixed emotions. So grateful to see her on the other side of another surgery, yet so terrifying to see her pulse ox dip as they race to get her on oxygen.

Gutting to watch her screaming in pain until finally a cocktail of pain meds knock her out completely.

She should rest. After squeezing in her GRE from 9:30-11:30 she fired off 6 applications to Physician Assistant programs before catching less than 2 hours sleep.

That sense of urgency is our 24/7.

We left home at 4:30- arrived by 5:30 and was in surgery by 7:30.

Three and a half hours later, we got a decent- yet not perfect report and I sit by her bedside… waiting.

Waiting to see if she’ll breathe without oxygen the way she needs to.

Waiting to see how they’ll manage her pain.

Waiting to map out the road to recovery.

Waiting.

He got the tumor. But with it went some healthy muscle too. He got the tumor, but the SOB had a vascular component too.

He got the tumor… but…

There’s always a but.

For now we sit. And wait. And HOPE for all the best answers to chronically complicated questions.

#beatingcowdens

Normalize This!$%#*!

Published on May 29, 2023 by beatingcowdens2 Comments

Two hospitals, two IVs, two legs, four paws, and a tail. That is the short version of the last 2 weeks.

On the morning of May 15th, a few days after a week of intense finals, I drove Meghan to the hospital so her interventional radiologist could have another go at the vascular tumor buried deep in her right thigh. This ridiculous, relentless beast has situated itself adjacent to her sciatic nerve, and it’s nestled way too deep for removal. This incredible interventional radiologist is truly a class act. He is wise, compassionate, and empathetic. He is patient-focused and his passion for his field of work is evident as his desire is to help. All the time.

This same doctor worked on this tumor in May 2022. That was a layered procedure chronicled in detail here https://beatingcowdens.com/2022/05/ And while his work was helpful, the pain returned this spring with a vengeance and it was time to go at it again.

While we waited for the procedure, we passed the time as we always do. We shared some random conversations and made small talk with anyone who could help us place our nervous energy anywhere but on each other. We have been in the pre-op staging area so many times that every crevice and every sound are more familiar than you ever want to know, and we have a healthy respect for the emotions it evokes. Without those types of experiences people might think our photo ops are utterly bizarre, yet like so many things in life; if you know, you know.

On that day we were exceedingly grateful that the doctor’s daughter who was due with his third grandchild on 5/20 had not gone into early labor. The little things are the big/ huge things, and truth be told, his fervent love for his own family is infectious, and no doubt makes him a better doctor, at least from where we stand. His desire to communicate with Meghan, 1:1, by directly texting her has elevated him to near saint status in my eyes. A doctor who cares as much about his patients as is humanly possible undoubtedly generates the most positive outcomes possible. By the time he came in for consent, it was a mere formality as they had hashed out all the potential risks and benefits multiple times.

When they left for the procedure room, Ella and I grabbed a seat in the waiting room where I would pretend to play solitaire and candy crush for the next few hours. When the doctor called to let me know he was finished and that it went, “as well as I could have hoped from my end,” we headed to recovery. Her arrival in the recovery room was delayed by an hour due to severe pain when she woke. By the time she arrived in the recovery room, she had been knocked out with pain medicine.

The recovery room dance is one we have perfected and I know she’s awake when she asks for her glasses. It takes a few hours of monitoring, post-anesthesia coherence, some ginger ale, her GF bread, and a strategy for pain management before they consider a release. And as we were getting her situated in the car for the 90-minute ride home I sighed again with the ridiculous things this disease has forced us to normalize.

It was more than a decade ago when we stopped both taking the day off work on surgery days. Years ago our budget could just not afford it, as my husband is paid hourly and only when he goes to work, but now, when we could swing it financially, it just makes little practical sense. That sounds terrible even as I type, but the reality is we have normalized surgery. And we know it makes more sense to alternate days in case she needs post-op care.

Except, she really doesn’t. She also has normalized things to a point where she can get her own basic necessities pretty early in the recovery process. The first 72 hours are always the worst. It is in that window that her body is clearing the anesthesia and figuring out the new sensations. Once that dust settles and the swelling starts to subside we get a better idea of what the recovery timeline is.

Although my girl, a young woman now, understands 21 surgeries in that recovery goals must also allow “real life” to continue. And the harsh reality, and an incredibly ironic situation in my opinion, is that she needs to work to get “patient care hours” to apply to PA school. I believe the purpose of those hours has a great deal of value. Medical professionals need to be able to speak to patients in ways that are not demeaning or judgmental. They need to be able to listen to and respond appropriately to the people they treat. Except, this girl had BEEN the patient her whole life and is literally pursuing medicine to listen to and HEAR her patients. But, that is irrelevant because the criteria must be uniform.

So, dealing with swelling, residual pain, as well as numbness, nerve pain, and altered sensation in most of her leg, my girl said goodbye to her boyfriend who had been keeping her company for the week and prepped herself to begin her new job as a medical assistant the following Monday, May 22.

The day was challenging in so many ways. It was also painful and draining. I was most concerned with her when I came home from work at 3:45 that day. I saw her unwinding with Ella, sharing some tears with her BFF and I headed off to acupuncture, in my newest search to overcome the residual pain from my 2019 foot injury. In my haste, I forgot my phone. I called home from the office and told them I would be home in about an hour.

That was DEFINITELY the last time I will forget my phone anywhere for quite a while. I am used to 3 tails and 12 paws greeting me at the door. There were none. Ella was laying on the bed in Meghan’s arms and Jax and Buddy were trying to offer comfort to their sister in distress. My husband gave me a look that I knew meant swift and decisive were my only moves. So when Ella did not even thump a tail for me and choked on a small piece of food, (Ella is the girl we sometimes love to hate with the appetite of a linebacker and the waist of a supermodel) I knew we had to move.

We called the vet from the car letting them know we were coming. Within an hour they had an IV drip in her and her temperature had come down from a mid-106 to a low 103. She had a little bit of a wag when she came in to see us after that IV, but she was not being discharged. She stayed in the vet for 48 insanely grueling hours. She had virtually no white blood cells, which equates to precious few platelets and neutrophils, and little ability to handle an infection or a scuffle with her brothers. She was started on two antibiotics.

Two days later her WBC had increased 20-fold, and she was released. We still do not have a reason, and Ella’s follow-up visit is Thursday. She is still taking those antibiotics but has returned to her antics and last night wiped out both of her furry brothers with her pouncing and running in the yard.

Meghan’s pain is still significant, but we hold a bit of cautious optimism as it is “different” than the tumor-meets-sciatic-nerve hell that she was enduring pre-operatively. Ella is back by her side and it is more evident than ever that these two were made for each other. The bond they have is beautiful and indescribable.

This weekend the sun is shining where we live. People are out and about, socializing and enjoying the start of summer. We have already been to urgent care to treat Meghan’s sinus infection (allergies clashed with 4 weeks straight of untenable stress). We opened the pool and picked up some groceries. We have not really left the house at all.

That is the story of two hospitals, two IVs, two legs, four paws, and a tail. This insanely crazy medical life has left us pretty blissfully content to do absolutely nothing when we can.

…today #beatingcowdens looks like this.

I’m not afraid of the dark, and other COVID-19 revelations…

Published on June 19, 2020 by beatingcowdens1 Comment

For Cowden’s Syndrome patients, there are surgeries. There are different kinds for different people. But, inevitably there are surgeries.

When most young people talk about being afraid of the dark, many parents dismiss their concerns. They put a night light on for a bit, and they tell them there is nothing to worry about. Because for typical children, “dark” is that brief time in their rooms before they fall asleep.

But, if you have had about a surgery a year from the time you were too young to fully comprehend the gravity of the tumor causing condition you live with… the “dark” also comes awaiting anesthesia on an operating table in a cold room full of strangers. The “dark” always comes after an uncomfortable IV placement and hours of waiting your turn, thirsty and hungry. The “dark” always comes before you wake up in inevitable pain.

The nightlight in my teen’s room came from scraps her dad collected at work. Really cool scraps. And since he’s an electrician, adding the LED was easy.

That light has been in place as long as I can remember. It provided a gentle glow when the nightmares from the PTSD triggered by one too many manually induced episodes of “dark” would provoke relentless nightmares.

It lit the room for the years my presence was necessary to get past the falling asleep part.

You know, that in between place between awake and asleep…

That time when all the thoughts you try to push away find their way in…

And then the dog took my place, the dog and the light.

But bad hips made it tougher for the dog to remain a soothing, breathing presence in the night.

So in January we got our older girl into a bed downstairs and we found a shelter dog at the Brooklyn ASPCA. He was abandoned. Tied to a tree in a park. He was about 6 months old and in dire need of love. (and structure, and training, but MOSTLY love)

April, our older girl welcomed him right away.

About a week into his stay in his new home, Jax curled up on my girl’s bed and fell asleep.

Turns out he is soothed by the breathing of another too.

This week after MONTHS of being home my girl told me it was time to take the nightlight down.

“I’m just not afraid of the dark anymore.”

People who haven’t lived our lives will say – ‘It’s about time’ But, she and I know it’s time, when it’s time.

So many things have happened these last few months during this COVID-19 crisis. Maybe the most remarkable is the family time we’ve shared. We have learned even more about each other, all three of us.

She asks tough questions, of herself and everyone she speaks with.

She holds herself to the same standard she expects of others, and truthfully those standards are so high she’s often disappointed. It’s a balancing act.

She is driven. Focused. Loyal. Compassionate.

She managed a 4.0 AGAIN.

I will pass Tinkerbell off to another beautiful girl, and hope the Pixie Dust blesses her dreams.

“I’m just not afraid of the dark anymore…”

My beautiful girl, with your heart and God’s grace you will change the world.

As for me, I’m not quite ready to part with my nightlight, as we remain…

#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

Behind the Scenes…

Published on May 31, 2019May 31, 2019 by beatingcowdens1 Comment

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

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

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

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

And during those same months she is thriving academically.

And training for swimming.

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

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

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

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

I think I have it now.

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

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

The rest of the time you are backstage.

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

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

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

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

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

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

Probably not the best plan.

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

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

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

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

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

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

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

She works hard at it.

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

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

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

#beatingcowdens

Normal People Stuff

Published on March 28, 2019 by beatingcowdens1 Comment

Two weeks of as much rest as I can possibly stand.

The trouble with having a rare disease, as I’ve said so many times before, is that you ALSO have real life. You ALSO have “normal people stuff.”

After that early January fall, I was quite consumed with my shoulder, and pretty bothered by the flippant attitude of my breast surgeon. All of which still stew inside of me as the real possibilities of breast implant associated illnesses are all over the news this week.

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

And then there was the new endocrinologist on March 12th. It was a backwards progression of sorts. A referral from the surgeon who has been following me since my PTEN diagnosis. I never really settled into a new endocrinologist after I disagreed with my long standing one in 1998. He was bothered by my questions. I bounced in and out of a few. I found them mostly arrogant and out of touch. I held with one during my pregnancy in 2003, but ditched him soon after my C-section. I had a primary running bloodwork, and I was guiding treatment based on my labs until the Cowden’s Syndrome surfaced.

At that point I was handed off to an endocrine surgeon. The possibility that the half of my thyroid which remained after a partial thryoidectomy in 1993 could fall into the 35% lifetime risk of thyroid cancer that comes along with a PTEN mutation was real. We agreed on annual follow-ups using the ultrasound in her office. All was smooth until February 26th, when she saw some calcifications on the ultrasound. She got spooked and wanted a “fresh pair of eyes.” She referred me to an endocrinologist in her hospital.

He sent me for a “proper” ultrasound before my appointment. He then, with some promising knowledge of what a “Cowden’s” thyroid looks like, went through the images from the exam. He told me that there were some potentially concerning features, but nothing that appeared urgent. He questioned why I had not been using the formal ultrasound at the hospital, as there was now no baseline to compare it to. In another episode of wondering why I don’t ask enough questions about my own care, I had to let it pass…

He told me the radiologist would read the ultrasound with more concern than he did. He was right. So there will be another ultrasound in August. We’ll talk about the status of that right thyroid lobe then. In the mean time he offered me a change of medication that in 30 years on Synthroid no doctor has ever entertained. Monday I will begin a lower dose of Synthroid combined with a twice a day dose of T3, liothyronine, in hopes that I might get some of my sought after energy back. With a standing order every 3 weeks to monitor blood levels, at this point, I have nothing to lose.

So back in circle to the “normal people stuff” intertwined in this balancing act. April 18th is still the earliest day to contend with the chronic ear pain and fluid I’ve been handling since September. It doesn’t matter that it has headed into my mouth and is bothering my teeth. That it is somehow messing with the nerves so badly that I ended up with a root canal specialist yesterday. Of course, she won’t touch the painful tooth because no one can know exactly what is in my ear. Pain management. Maybe it’s Cowden’s. Maybe it’s allergies. Maybe it’s simple. Maybe it isn’t.

And then there is that foot. Snagged on a kids chair in a third grade classroom in the middle of teaching a lesson. It knocked me on the floor. I was so worried about the shoulder, and the breast implant that I ignored the foot. At least I tried to.

About 2 weeks after the fall I saw my primary and asked for help. She suggested an MRI. GHI promptly denied the MRI and told me to ice and elevate as much as I could, and reevaluate in 6 weeks. I was left with no choice but to continue a job that kept me more hours on my feet than off. By March 6th I couldn’t take the pain anymore and headed to a podiatrist. He evaluated the foot, ordered Xrays, and got them read within hours. By the next day he had the MRI approved and I went in for the exam. About 72 hours later I got a call asking me to come in to discuss the results.

That’s never an actual good sign.

So when I walked into the office in two sneakers, I kind of suspected that I wasn’t going to leave in both of them. And I was right.

MRI revealed a partial tear of the lisfranc ligament in the left foot. Apparently this is an incredibly rare injury, (insert shock and surprise here) that the podiatrist anticipated before the MRI. Apparently you can only get this injury through a twist and fall, you know, like catching it on a student’s chair mid-step.

I got a soft cast, and a giant walking book. I got pulled out of work for at least two weeks, with no idea when the good people who review these cases will approve this as the clear work-related injury it is.

I have another appointment with the podiatrist tomorrow.

There is State testing at work this week. I’m always there for testing.

But right now I’m actually testing my inner strength. Resting my foot.

I’m preparing for my clearance to return to work. I’m preparing for my ENT appointment. I am preparing to get my ear fixed. I am preparing to get ready to lose the other half of my thryoid. I am preparing for another plastics consult…

And all the preparing in the world won’t matter. Because life will come in the order it wants. That is the lesson for Cowden’s Syndrome and real life…

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

#beatingcowdens

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

To My Girl On Her Birthday

Published on August 8, 2017 by beatingcowdens6 Comments

Sometimes you’re on top of the world. Stay HUMBLE.

Sometimes you’ve hit a low. Stay HOPEFUL.

The Lokai bracelet nailed it with real world advice.

Meghan as you turn 14, there is little more I need to tell about our back-story. Anyone who wants to know whatever we are willing to share, need only look through the posts on this page.

Tonight my thoughts are on moving forward.

You’ve seen some low lows these past years. But, you have also been blessed with some very “high” highs. You are no stranger to struggle, but you are also well-acquainted with overcoming any obstacle, large or small, even if they are thrust repeatedly into your path.

You are true to yourself at all costs, a rare quality in a teen these days. And while you wrestle with normal questions, I can tell you that your values, developed through your own processes, are strong and logical in that complex brain of yours.

We spend a lot of time together- more than most mothers get with their daughters. And, while I am not a fan of the medical circumstances that cost us hours on the Belt Parkway, the Gowanus, the BQE, and the FDR, I am so grateful for the HOURS we have to talk. About everything. I am grateful that we have learned a mutual respect, and have even (almost always) safely figured out ways to agree to disagree.

The person you are impresses me. And not just because I am your mother. You have worked through adversity your entire life, and you have become stronger, wiser, introspective, and compassionate.

You have learned you actually enjoy (many) people.

You want to help others who have lived lives full of struggle. And you will.

All of this will shake out with its details in the years to come. But I want you to always remember this:

Your recent PTSD diagnosis was not a shock to either of us. Nor is the “head-on” way you are meeting the challenge of learning more about yourself. You will not sit back. You will not let life happen with out you. You will always persevere.

You my dear are taking that same pressure that can burst pipes, and you are “making diamonds.”

As you face the year ahead, and you look at the new adventures you will undertake in High School, move forward with the knowledge simply that the past happened.

And now – It’s the present.

While some things will always remain the same, some things will change all the time.