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

Today Was a Difficult Day

Published on January 15, 2025 by beatingcowdensLeave a comment

There is no longer a need for pain meds. At least not the ones that heal your physical pain.

The pathology, all nine pages of it, has been sent to several places for “additional review” due to the rare and unusual (who is surprised?) although thankfully benign tumors throughout both breasts. No, they were not “just fibroadenomas.” No, they would not have “resolved themselves.” No, they were not “just hormonal fluctuations.” What they were, were warning signs, and a confirmation that the right thing was done.

“Your story has a double mastectomy in it.” That is what she had been told. The only variable was where it fit in the plot line.

Deciding when to have a double mastectomy is not an easy decision. As a 21 year old it is another epic step in a way too difficult journey. But, it is one that no one, not Meghan or her medical team regrets.

Today was the second post operative visit. The drains were removed Friday. The incisions are healing. But, today was a difficult day.

Today was the day where my beautiful girl, so beaten down and traumatized by the cruelty of humans was left vulnerable and once again in a waiting pattern.

Wait, it’ll get better. Every. Single. Time. They kept saying it her whole life.

You’ll feel better. You’ll meet new people. People will step up. The pain will lessen. It’ll get easier.

Except it didn’t.

Not the pain in the leg, or the diffuse pain of being bullied, abandoned or silenced for being “too much.”

Today she went in with scars fresh from the cancer prevention amputation that was her New Year’s Eve date. Today she went in bruised and scarred and trying to find her footing in this new body.

Today she was greeted with kindness. She was treated with respect. But, she was given words that hurt.

You. Have. To. Wait.

She knows patience. Trust me. She has waited in offices. She has waited for pain to subside. She has waited, better and more gracefully than most.

But, my girl is a do-er. She wants to do it, and put it behind her.

No one spoke about this waiting place.

This place where you just wait for scars to fade, and swelling to subside. Where you wait until you don’t feel like you are looking at a stranger in the mirror. This place where you wait to feel comfortable in your own skin, in any clothes, or just at all. This waiting place where mental torture reminds you of years of trauma and of never feeling quite enough. This place where you crave talking, but so many run because the sound of your voice is too much for THEM.

This place is not where she will stay forever. But, it’s like her car is out of gas, and the nearest station is too far away. She must pause and wait on the healing and try not to lose herself in the relentless noise in her head.

I’ll put her fall Dean’s List certificate in her scrap book while she works on her final undergrad semester remotely after this exhausting day.

The next post-op is in three weeks.

Today was a difficult day indeed.

Cowdens is hard work. It is not for the faint of heart. If you love someone with this wicked syndrome or any like it, be present. It is everything.

#beatingcowdens

“I Support The Girls”

Published on January 6, 2025 by beatingcowdensLeave a comment

Years ago when we went to have Meghan professionally fitted for a bra, Tina was kind, helpful and just a wonderful human. She fitted Meghan a few times through the years and at one point the conversation traveled to what to do with the ill fitting bras that had led us to her in the first place. That was when she offered to take them to an organization that supported women who did not have access to necessary feminine products.

We gratefully handed over a small bag of bras to Tina, knowing they would go to a good place, and we moved to a place of gratitude that we had means to buy ones that were better fitting.

This double mastectomy on 12/31 definitely will require a wardrobe overhaul, and the bras will certainly never be remotely close to the same size again.

So, as we emptied her drawers of bras this week, we thought back to that conversation from many years ago and wondered if there was still a need for such donations. I reached out to Tina and she put me in touch with “I Support The Girls,” an organization that strives to “Make Dignity the Norm.” Sarah immediately reached out and provided a donation address. The box is in the mail. What a basic concept. Dignity and decency. I encourage you to take a look. https://isupportthegirls.org

In a tough time – we have taken great solace in knowing that even though Meghan will not use the bras again – someone will happily and gratefully receive what we can now easily give.

#beatingcowdens

The Glider- from Birth to Bilateral Mastectomies

Published on January 1, 2025January 1, 2025 by beatingcowdens5 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

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

The Carousel

Published on April 26, 2019 by beatingcowdens2 Comments

Life is very much like a carousel… you must hold on tightly. It will not stop until it is over…

I always heard about the body changing every seven years. I never gave it much thought.A quick Google search brings a couple of interesting articles.Every Seven Years…

This has been on my mind a lot the last few weeks. I’ve never been one to spend New Year’s Eve wishing a year away, or blaming one for my misfortunes. However I do have a rock solid memory for dates, and 2012 is a year I will never forget.

Digesting our PTEN diagnoses from the fall of 2011, 2012 began with thyroid biopsies for my girl. It was the year of risk assessment and triage for us. In February there were breast and neck MRIs for me and another in a long string of embolizations for an AVM in Meghan’s knee. In March came my prophylactic double mastectomy that showed DCIS on pathology. In May of that year came my hysterectomy, as well as breast and an external pelvic ultrasound to assess my then 8 year old. In June she had another thyroid sonogram as suspicion of her nodules increased. She also had an MRI to assess the progress the embolization made on her AVM. Insert recovery times, and “normal people stuff,” and that took us only to the end of third grade.

In the summer she had kidney and bladder ultrasounds, and an MRI of her pituitary gland. I added an abdominal MRI to baseline hamartomas that to this day have continued to slowly outsize my spleen itself. That MRI was repeated in November, and we ended the year with an uptick in concern about my girl’s thyroid.

Things have not really calmed down since then, and I have never counted surgeries and procedures from 2012 alongside any other year to see if it truly was our most medically active, because by all accounts the year you spend trying to process this diagnosis is the longest one ever.

Over time we have adapted to our lives, dancing in between appointments, carefully trying to schedule doctors and surgeries around life, and not the other way around.

Its a valiant effort. Sometimes I am successful at it, and sometimes it is an epic fail. Regardless there is no alternative but to keep pressing forward. Adapting and changing.

Sometimes the adaptations make us stronger. Other times they make us more efficient. I am not sure the impact of the adaptations on emotional health. I am focused on not letting this diagnosis take away my life. I am determined to live my life in spite of it. But, sometimes I do wonder. I keep in touch with virtually no one. Unable to make plans for the likelihood they will need to be cancelled or changed. A deep fear of not being able to hold down a non-medical conversation reverberates through my soul.

So as I was hopping around on the crutches this morning it occurred to me that it is now 2019. It is seven years since the epic 2012. This year is shaping up to be one for the record books.

It is hard to tease apart the Cowden’s from the “Normal People Stuff,” because at this moment life seems to be a bit of an all-consuming medical drama.

That confuses people who see me smiling through the day at work with a large boot attached to my left foot for well over 6 weeks. It makes people I run into at the mall think all must be well. I smile. Most of the time. Frowning gives you uglier wrinkles.

Today was to be the day the podiatrist freed me from the walking boot. Instead he told me to trade it for crutches in the house. The boot is starting to hurt my knees and my hip. My foot is simply not ready to be full weight bearing. The partial tear is not healed. In fact it seems no better, if not worse than when I fell at work on January 8th. The delay in diagnosis caused by a denied MRI likely made things worse.

I was given names for a second opinion, and cautiously handed a script for PT, which cautions the potential therapist to be “NOT TOO AGGRESSIVE” with my foot. The weather is getting warmer. My pleasure comes from new sneakers and long walks…

Simultaneously working the juggling act with a few other issues, I have seen just about a doctor a day for the last week.

Fortunately my daughter’s brain MRI for lesions being watched for the last year was gloriously “unremarkable” on Tuesday and I am grateful for the little things – because they are the GIANT things.

My ENT was perplexed, as most doctors are. The hearing test was normal. The fluid that I feel was not visible to him as it had been to the other doctor. He spent a good deal of time listening. He decided he would offer me a tube to drain the ear with an anticipated 5% success rate. (No thanks) and an MRI of my head which would show the ear. He said he was 99% sure the MRI would show nothing. Then he corrected himself to say he was 99% sure it would show nothing in the ear… but I should anticipate incidental findings that will likely need follow up. Whatever. Brain MRI with Cowden’s is not a bad idea anyway. MRI tomorrow.

My thyroid labs, after 3 weeks on the new medication regimen indicated the need for another change. I’ve been having heart palpitations, and the highest blood pressure reading of my life. I’m awaiting the arrival of the new dose, and setting up the next blood appointment, all while wondering if this is an exercise in futility as it looks like the rest of my thyroid will need to be removed in the not so distant future. My partial thyroidectomy was in 1993. Clearly the body keeps changing.

I had a routine bone density screen on Weds. I also went for my abdominal sonogram to monitor the spleen. It’s a 45 minute ultrasound that requires 4 hours of fasting, but checks the spleen hamartomas for growth, while evaluating the liver and kidneys. Except it was done in 6 minutes.

Apparently there is a drop down menu somewhere when you order an abdominal ultrasound. I think the first item is Aortic screen. The “Complete” that I needed was a few clicks down. I’ll need to reschedule. But, I am looking forward to hearing the random screen I didn’t need was “unremarkable.” Results pending…

I am a different person than I was 7 years ago. We all are I suppose. If you evaluate your life in 7 year increments, you will definitely note changes.

The question is, will you be happy with them?

I am stronger. I am more fit. I am more confident in my knowledge. I am less drawn into drama.

I am also less social. I am less knowledgeable about world news, and more knowledgeable about rare diseases. My attention span is shorter. I am easily distracted. My brain is always on. Sometimes I catch really important things. Other times I torment myself…

I am introspective and honest.

Happy is a relative term.

I’ve spent a lot of time watching Netflix. More than I ever have. I picked up Grey’s Anatomy and keep hearing Meredith quote her mother.

“… But the carousel never stops turning. You can’t get off.”

I will hold on tightly and remain

#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

When you reach the end of your rope…

Published on June 3, 2018June 3, 2018 by beatingcowdens2 Comments

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

So often this is easier said than done.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

It held on then, and I was released.

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

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

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

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

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

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

Checkbox with green tick

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

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

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

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

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

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

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

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

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

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

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

And if he’s not – I’ll find another.

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

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

Game on.

Tick tock.

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

#beatingcowdens

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.