Blessings and Sorrows….

Published on July 13, 2020July 13, 2020 by beatingcowdens1 Comment

Blessings and sorrows are not mutually exclusive.

Disappointment can exist alongside gratitude.

You can have hope while being grounded in reality.

Faith doesn’t mean you’re never sad.

Laura Story wrote the song, “Blessings” many years ago. It is a song that has played on repeat during a few of Meghan’s hospital stays.

The chorus,

“Cause what if your blessings come through raindrops?
What if Your healing comes through tears?
What if a thousand sleepless nights are what it takes to know You’re near?
What if trials of this life are Your mercies in disguise?”

Is full of seemingly opposite concepts. Yet so often through our rare disease journey, and our Cowden’s Syndrome mountains, and Ehlers- Danlos obstacles, this song has just made sense.

And now, during this time of pandemic and isolation, and anxiety it resonates even more.

We are freakishly accustomed to isolation. Passing through surgeries and rehabilitation, and hospitalizations and illnesses as if they are as normal as a traffic light on the corner of a city block, means that you look at things a little differently. Any time not spent recovering is seemingly spent traveling to and from appointments that yield little besides new appointments. And yet, their very existence can consume every spare moment.

Cowden’s Syndrome is a constant “flashing yellow,” a caution sign, so to speak. It is a blessing that we are equipped with the knowledge that as a people so susceptible to a variety of cancers that we must pause to aggressively screen,often twice a year, for our most sinister well known risks, (breast, thyroid, uterus, kidney, colon, skin…) and that we must investigate each new bump or lump, because you just never know.

And yet that blessing comes sometimes through raindrops, of plans foiled, and journeys rerouted. All worth it if we have remained as we say, #beatingcowdens.

COVID-19 has rerouted most of the world this spring.

And we have learned.

We feel. We laugh. We cry. We sit still. We take walks. We eat together. We pray. We read. We pet the dogs. We sing. We celebrate. We mourn. We watch TV. We act with caution not terror. We care about others. We read. We learn. We talk to each other.

We “attend” church weekly for the first time in YEARS, as we have a church too many miles from us with a message we deeply need, suddenly available in our living room.

We did not pass a single graduation sign without a moment of empathy for what the graduates missed. We celebrated every birthday drive by with loud honking horns. We sent virtual cards when the store wasn’t an option. We thought about sports events and recitals and parades and everything someone, somewhere had their heart set on.

We talked about everyone missing something. Every house, on every street had plans interrupted, and life rescheduled without warning. “Everyone has something.”

And in the most unusual way, for the first time in a long time, we felt a camaraderie with so many. Everyone’s life was upended. Everyone’s.

Don’t misunderstand, I’m not happy about any of this. I just feel like it is easier to talk to people. That may sound odd. But currently people “get” isolation a bit better than before.

As swim season cut short days before a college showcase she was prepped and ready for, it wasn’t just HER.

As the SAT, and ACT play miserable games with enrollment and dates, she is united with the class of 2021.

Remote learning was… well I’ll just leave that there and say, necessary based on the state of NY in April.

We saw a 20th anniversary celebration derailed. And yet, we had the most incredible evening.

I cancelled tickets to my first solo journey, a PTEN conference that was to be in Boston. But, I celebrated the fact that this time I actually WAS going. I will get to the next one.

I took the refund for the missed Billy Joel concert. It took 2 decades for me to get the nerve to want to attend any concert again. It may take another 2 before I want to be in a crowd that large.

Disney – our August safe zone for 12 summers is cancelled. There is no way I could do it under these conditions. Just none.

There were tears cried for all of the above. But, there was also the awareness of gratitude, for health of family and friends, for two secure paychecks, and extra time with two adorable dogs.

The maintenance appointments are beginning to get caught up. Some have been live, and some virtual. I am undoubtedly excited about keeping some virtual medicine where the visits will allow. So far we are all faring well.

We are staying close to home. We are choosing our interactions wisely. We are choosing not to be crippled with fear, but rather empowered with logic, faith and compassion.

And when we head out into the world we mask.

We look daily at COVID numbers around us, and quite frankly they are disturbing. Locally we are in good shape now. But things change quickly.

We spend these days enjoying sunshine. We are in gratitude for a beautiful yard, and thankful that swim practice has begun again.

I promised to not complain about the 5:45 AM wake ups. And I’m trying to be true to that.

We have real conversations here about a fall schedule, without letting it overwhelm our days. We talk about scenarios. Her sport is a fall sport and it grows increasingly likely that her Senior season is in jeopardy.

We have conversations about school. We know that we want to return. But we do not know if it will come to be, at least not right away.

We have summer goals. They are different this year. And maybe that’s not always a bad thing.

We allow ourselves to feel every emotion here. And for us, it helps.

Whether you’re fighting a rare disease (or two) or wrangling a teenager, now more than ever we are one.

Forgive yourself.

Blessings and sorrows are not mutually exclusive.

Disappointment can exist alongside gratitude.

You can have hope while being grounded in reality.

Faith doesn’t mean you’re never sad.

#beatingcowdens

completing my first post from my iPad on the couch as the FOOT recovers from some pretty extensive, non Cowden’s related surgery.

Adapt. Onward.

It’s This Day to Day Living…

Published on February 28, 2019February 28, 2019 by beatingcowdens3 Comments

And that might be an accurate description of my current assessment of living with Cowden’s Syndrome.

It’s so hard to put into words. Those who don’t understand are likely to think I’m insane.

When you know your mission, you carry it out. You are driven. Focused. There is something that needs to be accomplished, or an adversary beaten. You have a crystal clear goal.

As difficult as those moments have been, I am starting to find the ‘forever’ aspect of this syndrome to be overbearing at times.

Some days it seems no matter which hurdle we clear, something else is in the line of fire.

I waffle between doctors who are either not interested, or are so overworked that they lack the time, energy, or desire to research and think from the alternate view required for a 1 in 200,000 mutation on the PTEN (tumor suppressor) gene.

Research. Real research (yes, I am smart on the internet and know what to read and what to brush off,) is surfacing so often that it is hard for me to even keep up. I don’t expect my doctors to be on top of it.

I expect them to treat me as a partner in my own care.

They have gone to medical school. I have not. However I have more extensively studied Cowden’s Syndrome than they ever will. And I still have a great deal to learn.

Gone are the days when “doctor knows best,” and I should comply without question or explanation. This is my life. This is my daughter’s life. And wherever I can assist, I intend for those lives to be long and strong – physically, mentally and emotionally.

Tuesday the 26th was my “doctor day.” It became a necessity years ago that I take a personal day and “stack” my annual appointments. This makes the day out of work worth it. Some years things are smooth. Other years, well… not so much.

After a fall at work in January, where my 5 foot 7 frame ever so gracefully landed on my right shoulder and implant, I have been uncomfortable. The implant that was previously easy to ignore was prevalent in my thoughts all day. It is not ruptured, and I was able to get MRI confirmation of that. However it is just annoying. It sits slightly off place, a constant reminder to my brain and body that it is THERE. I am grateful it is not painful. I am not content to live with this situation indefinitely.

My discomfort, and the knowledgeable people I share some Facebook support groups with, let me down a path of research on silicone implants.

I learned a whole bunch of things. Most of those things are probably inconsequential in my life, but they made me angry. I had double mastectomy with immediate implants in 2012. In 2016 the implants needed to be replaced way ahead of schedule. (With a maximum of about 10 years on average). I had one breast surgeon and two plastic surgeons.

No one spoke to me about a condition called BIA-ALCL (breast implant associated anaplastic large cell lymphoma). The risk is minimal, but it exists. No one ever talked to me about it and allowed me to make an informed decision. We have a rare disorder that predisposes us to greater cancer risk. No one has thoroughly studied the occurrence of BIA-ALCL, and certainly no one has considered it in relation to PTEN Mutations. No one knows. But, I deserve the uncertainty discussed.

Further down the same page is the screening recommendation that women are screened via MRI for silent rupture 3 years after the first implants, and every 2 years following.

Not a word. Ever.

https://www.fda.gov/ForConsumers/ConsumerUpdates/ucm338144.htm

There are other pages. Solid articles. But if you read the above link you get the point.

So I saw my breast surgeon first. All was good on exam. That was a relief. I began a discussion about the above, and was really upset by her flippant response. I was told I was reading too much on the internet. I was told that there was no conversation about possibly removing my implants. Granted this is not something I was ready to do tomorrow, but it was something I wanted to learn about. I was told I would be subjecting myself to unnecessary surgery and she would counsel my plastic surgeon against even entertaining it.

I honestly felt like I had been hit.

I asked her what her thoughts were on BIA-ALCL related to Cowden’s Syndrome. She had no answer. I asked her how many PTEN patients she sees. 20? No 10? No 5? No, less than 5.

I asked about screening MRIs. I was told they were “unnecessary”. I referred her to the above link.

I could not believe that I sat in the middle of a major cancer center in New York City. I felt violated and angry.

Next came my oncologist.

She is a kind woman with very few answers or helpful tips on risk management. She pretty much looked up Cowden’s and checked that I have no breasts, no uterus, and half a thyroid, so I should be easy to manage. I asked her questions about bone density,and heart health, (30 years of thyroid replacement, 7 years into forced menopause) and she simply said, “I don’t know.” I asked about the lymphangiomas on my spleen that currently outsize the spleen itself. She started to talk to me about spleenic “cysts” but I drew her back to lymphangiomas and the vascular component that often affects PTEN Patients. I have not desire to lose my spleen, nor do I have a desire to harbor a potentially destructive organ. We settled on a bone density and an abdominal sonogram to measure the lymphangiomas. At least this makes sense to me.

Off to the otolaryngologist with a hopefully not PTEN problem. He did vocal cord surgery for me 2 years ago to remove some growths. This day the vocal cords were clear. The right ear however has been an issue since September. I spent a bit of time treating for migraine, and blaming the chlorinated pool spectator sections. I had 4 doctors prescribe antibiotics when they saw fluid in my ear, and another a short course of steroid. All cautioned me about hearing loss. I regained my sanity to some extent when a friend gave me Mucinex sinus max. Something about it helped the pressure. The doctor got a look in my ear and used his camera to show me the fluid inside the right ear that is not draining. He also looked deep in the ears and told me something was “off” with the ear canal. But that was as far as he would or could go. He gave me the name of a doctor to treat me. He also told me to get a hearing test, and to understand that they must find a cause prior to any treatment. April 18th was the first I could get. Mucinex for all till then.

The endocrine surgeon came into my world post diagnosis in early 2012. I believe her function was to evaluate regularly the remaining 1/2 thyroid, as thyroid is one of the greatest PTEN related cancer risks. My thyroid was partially removed in 1993 due to a diagnosis of “multi nodular goiter.” At the time, the prevailing wisdom was to leave one of the lobes intact and suppress it with high doses of synthroid, keeping the TSH (Thyroid Stimulating Hormone) low. For years I operated with a lower than normal TSH, but it worked for me and seemed to keep the remaining tissue quiet.

When I was diagnosed and my team changed, so did some of the management theories. This endocrine surgeon, who was only managing my medication as a courtesy, not as a regular practice, preferred a slightly higher TSH level. We jousted a few times about fatigue, and other side effects that come with adjustment. We had made peace on a split dose, until I had my levels measured in January and they were WAY to high for my physical comfort zone. After my initial glee that I was not totally losing my mind, and that I needed medication, I started to wonder why the level change. My weight was consistent…. my activity level consistent…

She did a routine sonogram of my neck in the office. For the first time in 7 years she paused. “There are small calcifications. They were not there before.”

I asked about a biopsy and she told me she would not even know what to biopsy. She’d be “guessing” as the thyroid bed is undefined. She said she wanted me to consult with a colleague who is an endocrinologist well versed in molecular genetics. She told me it was no rush. She was going to Email his staff, and I could reach out when I have a school break in April.

That was Tuesday afternoon.

Wednesday morning I received a call that it was suggested I book the first available appointment. I did so for March 12th.

I was told to obtain an ultrasound for basis at a local facility.

Thursday morning the phone rang again directing me to get the ultrasound at the hospital before I see the doctor.

Things seem to have moved from very casual, to lets not dawdle, quite quickly.

I’m not emotionally attached to too many non-essential organs anymore. I’m vested in getting anything out before it causes me trouble.

Life is a juggling act.

I have plans.

Doctors appointments get in the way.

I know people who use sick days to vacation. I use mine on the Gowanus Expressway.

I want to get it together, and see people. I want to have casual conversations and catch up on people’s lives.

I will. One day.

But for now the energy remains focused on a kind, lovely, compassionate teen, and keeping these two “Rare” ladies in their best health.

Oh, and that fall in January left me with a pain in my right foot that just won’t quit…

Tick tock… the waiting continues…

And we remain forever

#beatingcowdens

“I am the Lorax, I speak for the trees.”

Published on November 16, 2018November 17, 2018 by beatingcowdens2 Comments

The call came to my cell phone on a Friday afternoon a few weeks ago. It took me a few minutes to process that Sharon from the Teddy Atlas Foundation was telling me Meghan had been selected to receive the Dr. Theodore A. Atlas Humanitarian Award. The award is named for a local physician who epitomized the concept of what it meant to be a physician through more than a half century of people centered care on Staten Island.

Dr. Theodore A. Atlas Biography

I knew of Dr. Atlas, who did most of his work before my time, because I followed the work of the foundation, started by his son, Teddy Atlas Jr. The Dr. Theodore A. Atlas Foundation is a name known to locals who are inspired by stories of people helping people. I had watched this foundation through the years, grateful that people who genuinely want to help are not afraid to just do it.

Teddy Atlas Biography

I know I stumbled, and may have sounded like a bumbling fool as I asked her to repeat herself. “Yes,” Meghan will accept gratefully, I replied without asking. I was given the date and time for the dinner.

I’m not sure either of us really grasped the enormity of the honor until we looked up the event on line.

Teddy Dinner celebrity line-up

We had just struggled to get 100 people in a room for a fundraiser. Here they were looking at close to a thousand – from big names to community favorites.

When she learned she’d need to give a brief acceptance speech, she took a deep breath, and then thought. A whole lot.

We talked about humanitarian, as a word and as a concept. The more we bounced it around, the more we both knew the concept suited her. Meghan has always wanted to make a difference. She has always done what she can to speak for those who can not speak for themselves. She is not sure what her future career will be, but she is sure that she must know she is ‘helping.’

We talked about quotes. I gave a few suggestions. She came back to me with Dr. Seuss. She nailed it. As usual.

The Lorax speaks for the trees. They can not speak for themselves, so the Lorax advocates for them. It resonated with her.

Here is Meghan’s speech:

Good evening, I am extremely humbled and grateful to be standing before you tonight.

When I was 7 I never thought my life would turn out this way. I never thought I’d be accepting a prestigious humanitarian award. When I was 8 and my life was turned upside down by a diagnosis I didn’t understand, I was in shock. By the time I was nine, I realized that no one even knew what my disease was. Then I realized that if I didn’t do something, there was a chance no one else ever would.

Cowden’s Syndrome is a mutation on the PTEN Gene, a tumor suppressor gene. Because of this disorder I have extremely high cancer risks, and grow a lot of tumors. I am in the hospital being poked and prodded on a regular basis. I am constantly scanned and monitored. Every time I step into a doctor’s office I am holding my breath, praying that I will get even just two more months of peace, without a procedure. I am 15, and I have had 18 surgeries. This disease has tried to break me over, and over again. And, because of this, with each passing day I become more determined to overcome these challenges, win my daily battles, and lend a helping hand to others in need.

I am living the life of a rare disease patient. I am closely acquainted with the downfalls and struggles of my disease, and others. Because of this, I am fully cognizant that there is very little awareness about rare genetic disorders. Some of these disorders are fatal, and others can just make your daily life torturous.

My disorder specifically is sometimes classified as an “invisible illness.’ No one sees my scars and my struggles because I don’t ‘look sick.’ I present as a healthy and intelligent teenager. When I was little I used to wish all my scars were able to be seen, and that they were all over my skin. I thought that maybe people would start understanding what patients like me go through a bit more if they saw some of the ramifications of these diseases.

Cowden’s Syndrome has not just impacted my body. There are undeniable, severe mental ramifications that have come with my struggles. I have a depressive disorder, an anxiety disorder, and PTSD secondary to medical trauma. In no way am I even close to normal. I have to fight ten times harder for what someone else can do physically. I struggle mentally to live a normal live and get past the anxieties that control my daily life.

I have been bullied since elementary school there are some days where I come home, curl up in a ball and cry. It’s really hard to make friends when you’re at the doctor so much, and it’s even harder to deal with teenage drama when you’ve had to act so much older then you are your whole life. Whether it’s been because I’m different and they don’t understand, or because I catch on to things quickly, I always find myself that kid with the target on my back for bullies.

People like to say to ‘not let your hardships define you.’ Personally, I think that’s idealistic and impossible. The events that you have gone through in your life have created who you are. Sometimes I wonder what life would be like if I did not have this rare disease. Then I shake myself out of it, and realize that I’m a pretty cool person who has the ability to change lives. And, that if I didn’t have Cowden’s Syndrome, I wouldn’t be growing into the person I am.

My mother and I host annual fundraisers called “Jeans for Rare Genes.” They started out with all of the profits being donated to the Global Genes Foundation, a 401C3 organization that raises money around the world for the purpose of providing support to patients with rare diseases. Then, the PTEN Foundation, an organization specifically devoted to patients with PTEN Hamartoma Tumor Syndrome (Cowden’s Syndrome) was born. Once this organization was created, we began fundraising for them. To this day, our annual fundraiser is one of the biggest donations that goes into this organization and I am proud to know that our work is making a difference.

There are less than 2,000 diagnosed Cowden’s Syndrome patients in the US. Sometimes it is hard to see the light at the end of a lonely tunnel. The PTEN Foundation is close to putting up a patient powered registry that will start things moving in the right direction. We have a long way to go. We need funding for research, and then we need medication and hopefully a cure. There is far too little awareness about Cowden’s syndrome and all rare diseases in general. They are very real, and very present in our society.

This honor will serve as a stepping stone for me. My awareness efforts are not nearly done. In fact, I view this as a new chapter in my life, where I will have the confidence and courage, needed to continue raising funds and awareness, and that I may hopefully be a part of changing the lives of other rare disease patients.

In the words of the Lorax in the famous Dr. Seuss book, “Unless someone like you cares a whole awful lot, nothing is going to get better. It’s not.”

With the number of people who care in this room tonight, I look forward to a future of hope and promise. Thank you.

The speech ended with Teddy Atlas committing $5,000 to the PTEN Foundation on Meghan’s behalf.

It made me extra glad that Kristin, the PTEN Foundation President, who has become a dear friend, had made her way to New York from Alabama to celebrate with us.

Yesterday, November 15, 2018, NYC was almost totally crippled by an unexpected snow storm. In all of my years here I have never ever seen anything like it. I have seen worse storms, but NEVER the crippling state of things I saw yesterday. I left work to get Meghan at school at 2:20. On a busy day it takes me 22 minutes to arrive at her school for pick up. At 4:10, after crawling for HOURS and getting so close, I was being pushed up a hill out of a pile of snow. I was in such a state, feeling frantic that I was literally not able to get to her. And even though I knew she was safe, it was a helpless feeling I’m not looking to duplicate any time soon.

At 4:15 she sat in my car while we turned around to head back. At 5:35 the 8 mile round trip was complete, but we weren’t out of trouble. Three hours on the road and I never saw a plow or a salt truck.

My parents agreed to drive in their very capable pick up truck. My husband made it safely off the bus from Manhattan. It was far from the poised and put together departure I had hoped for, but we got there.

I’m not going to lie, there were a few moments there where I thought, “WHAT THE HECK? Why does EVERYTHING have to be surrounded by drama?”

But I pulled myself together. There are far bigger problems in the world. We made it. We were safe. We were together. Meghan’s dear friend greeted us there. I looked around and soaked up the enormity of the honor my 15 year old was receiving.

I looked around the room full of energetic, generous spirits.

I looked in the booklet on the table and found this. Despite a few minor errors, the idea that this was published here. Now. For everyone. Well, it kind of blew me away.

I listened while Ciaran Sheehan sang, with chills down my spine. Having played leading roles in two of Meghan’s favorite Broadway shows, “Les Miserables,” and “Phantom of the Opera,” he was the one she wanted to meet. And she did.

My girl is not perfect. She struggles. We argue. She sometimes acts like a teenage girl and I have to remind myself she is one. She is intense. She is focused. She is determined. She is deeply principled.

She is learning to find balance. She is learning to laugh. She is learning to pause. To believe. She is letting herself be successful. She is working daily on becoming the best version of herself. She is my hero.

And Meghan, as one of the “trees,” I am happy to have a “Lorax” like you.

Because as Dr. Seuss said, “Unless someone like you cares a whole awful lot, nothing is going to get better. It’s not.”

You are way more than

#beatingcowdens

You’re going places kid. And I’m so grateful to be along for the ride.

It’s possible…

Published on November 12, 2018 by beatingcowdensLeave a comment

It is possible to have conflicting emotions and have them all be true.

It is possible to feel so tired you wonder how you will function, and simultaneously grateful for the very things that made you so tired.

It is possible to be full of angst about a schedule that just will not quit, and fully excited that your child is capable of outrunning you. Finally. I waited a long time to be more wiped out than she is!

It is possible to feel worried about this week’s pending orthopedic appointment and the news it may bring, while gratefully celebrating your child’s swimming medals from the week before.

It is possible to have anxiety about when the next surgical procedure will come, while gleefully extending the number of days it’s been since the last one to record setting lengths.

It is possible to have a deep unshakable sadness on certain days, months or even seasons, while still appreciating the best daughter and husband ever.

It is possible to feel like having and loving someone with a chronic illness leaves you in shackles, while every day being grateful for them and time you have to hug each other.

It is possible to live with people who literally complete your soul, and still sometimes need time with other people. Just because.

It is possible to feel lonely in a full house by the design of your own head and not the people in it.

It is possible to be a pit bull advocate for your child, while wishing you could be a happy yellow lab and get the same results.

It is possible to really want to spend time with friends, but to posture as if you’re too busy so as to protect yourself from inevitable schedule changes and conflicts without having to say “no” again and again.

It is possible to want to talk, but to realize you haven’t much to say that isn’t about topics too tough for casual conversation. (Note to self – try to watch more TV.)

It is possible to have such a deep understanding of the rare disease plaguing you and your child that you are sometimes terrified of the path you will need to travel. It is possible to be terrified, while full of gratitude for the warning system and vigilance that will allow that path to be long – together.

It is possible to know the road in front of you is still arduous while looking back and simply saying, “Wow, we’ve come SO FAR!”

It is possible to fully understand the reality that life is uncertain for EVERYONE, while processing the gravity of a rare, cancer causing genetic disorder.

It is possible to love the ones your with, while still deeply missing so many of the ones that have gone before, some even decades before.

It is possible the mail order pharmacy uses a dart board to determine their policies each time you call.

It is possible the hospital actually does have BOTH insurance cards in the computer in the right order, and they are just messing with you.

It is possible that the china closet may just not get cleaned and washed for the holidays, and that for the first time you may just be ok with it.

It is possible that the entire holiday shopping list will be handled on line, because those are the hours that work for me.

It is possible that some days, weeks, and months leave you with more conflicted feelings than others.

It is possible because I live it.

And it doesn’t have to make sense to anyone else.

Today it’s really just about my own brain.

And those are my random thoughts…

#beatingcowdens

#thisisfortyfive

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

“You don’t look sick…”

“You don’t look anxious…”

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

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

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

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

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

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

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

“Prep for the Climb” Disney’s Hollywood Studios

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

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

#Beatingcowdens

Bring It On the Musical – One Perfect Moment Lyrics

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

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

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

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

Forever…

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Forever. The struggle is real.

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

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

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

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

Forever.

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

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

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

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

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

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

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

One step at a time.

We will remain

#beatingcowdens

Forever.

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

Dear Meghan… Mother’s Day 2018

Published on May 13, 2018May 13, 2018 by beatingcowdens2 Comments

Dear Meghan,

Almost 15 years ago you entered this world kicking and screaming. You scared the heart out of us, the doctors, and the nurses. The NICU nurses called you “Miss Attitude”. Even in distress that August day you showed them all you were not to take anything without a fight. You made me a Mom under the craziest circumstances, and looking back, maybe they were fitting. How could we know back then, when we were discharged, a few days later, and all of NYC went black in the blackout that no one will forget, that was just the beginning of all things epic?

I look at you now, taller than me, beautiful and smart, athletic and talented, and I burst with pride. You are good in your core. You are pure in your heart. You hold yourself to a fiercely high standard, and you hold others there too.

We’ve long passed the point where summarizing your history is easy, or even practical. Truth is, most people’s heads would explode to hold inside the medical journeys we’ve taken, and the emotional bumps and bruises along the way.

You made a decision many years ago, that your struggles would be only part of you, and that they would NEVER define you. You want to achieve, and you do achieve, in spite of your struggles, and not because of them.

Facing your teen years with the cloud of Cowden’s Syndrome always hanging nearby is daunting, to say the least. You possess knowledge, statistics and realities about your own body that no one your age should have to try to understand. You have more memories of trips into and out of operating rooms than most people would ever know in a lifetime. You have been held down, poked, prodded and examined so many times, even I sometimes try to forget. You have been through Physical Therapy and rehabilitation so frequently that we have the numbers for multiple surgeons and the best PT in the world, saved into speed dial.

Before you were 11 the threat of cancer stole your thyroid, and as normal teenage hormones kicked in, yours were just a bit more complex. Precancerous cells in your uterus before the age of 12 necessitated more synthetic hormones, and your body… sigh. Beat up and abused, no wonder it gets annoyed.

The PTSD (Post Traumatic Stress Disorder) diagnosis was not a shock, rather the exclamation point on the end of a very long sentence. Before the start of the next paragraph, in what will be a very long story…

The struggle to deal with it takes place mostly behind closed doors, and most people would have no idea.

You just keep going.

It’s not a sprint, it’s a marathon.

The longer, and harder the battle, the more determined you become.

You excel at school. You continue to make strides at swim. You are learning to use the beautiful voice you were gifted with.

You are my pride, my privilege, my daughter and my friend.

You have strengthened my resolve. You have helped me fine tune my “Mamma Bear”.

You have helped me learn self-restraint when I have had to allow you to handle things on your own.

You have helped me become a better human.

Sometimes, my dear, I want to scream, as your stubborn, rigid, principled self, clashes with my “I want to fix it” attitude. And yet, I count myself lucky in this day and age to have a daughter who is so sure of her principles that she will not bend to the whim of the crowd.

I wish for you the ability to find joy and laughter. I wish for you, to be able to smile among the good people you meet, and allow them into your world. I wish for that the kind souls you meet are able to understand that there is more to you than initially meets the eye.

I want you to know that you are good enough, and that you are enough. Yet, I want you to remain hungry and goal oriented and kind and compassionate too.

A wise woman (your grandma) once told me, you do more changing in your 20s than you ever do in your teens. You will continue to grow and learn and change, and develop your personality. Set your goals, meet them, exceed them, or rewrite them. Life is fluid, and full of change.

No matter how hard things get, never ever lose HOPE, and NEVER GIVE UP.

You gave me a beautiful necklace today. The compliment of being referred to as “Wonder Woman” is about as high praise as a mom of a teen could ask for.

If I possess those qualities they are because of you.

We will continue to take this long journey. The road will never be smooth. But I would take no other path if it meant traveling without you.

Together we remain #beatingcowdens.

Thank you my dear. Thank you for allowing me to be part of your world.

Thank God for selecting me as your mother.

Love you always,

Mom

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.