“It Doesn’t Suck”

Published on July 14, 2025July 14, 2025 by beatingcowdensLeave a comment

“Thank you…” That’s how she led at 6:30 on a Saturday morning, when I picked her up 140 miles from home so she could squeeze in a uterine biopsy on the weekend, so as not to miss any class her first week of PA School.

“Thank you…” How many 21 year olds lead with that? Nothing to eat or drink. Half asleep. Headed to ANOTHER procedure which would require ANOTHER IV into a vein literally EXHAUSTED from overuse.

She spent a few minutes telling me about her Friday night out with her new classmates before falling asleep. “It doesn’t suck.” This was absolute music to my ears.

Anyone who doesn’t know Meghan, and hasn’t followed her story, and even some who think they know her, but haven’t really been paying attention, might think that describing her first week of classes as a graduate student by saying “It doesn’t suck,” is negative, pessimistic, or a bad attitude. But to me, who has been paying the closest attention, knowing the reality that virtually every school experience has “sucked,” this was music to my ears.

No point in going backwards to the countless times when she was belittled, ostracized, tormented, and tortured. She was never perfect, and she never claimed to be. But years of therapy have taught her not to shrink herself down to fit into anyone else’s box. I don’t know why many kids found her unlikeable. But she knew it. Always. And the ones who didn’t mind her were typically too afraid to speak up. “It doesn’t suck…” cautious optimism. I’ll take it!

I had 5 hours in the roundtrip between home and her school to reflect on this kid. And I have to tell you, I’m so proud of her sometimes I feel like I could burst.

Don’t get me wrong. The years of social isolation have been daunting and exhausting. But, they have given her wisdom and patience well beyond her years. She has gained confidence. She is insightful. She is capable of telling you her weaknesses right alongside her strengths. She is transparent, and straightforward. You never doubt where you stand. She is passionate, loyal and driven. She is resilient.

Writing has been hard for me these last few years. I feel like we mark time in between surgeries, rehab, appointments, tests, and more surgery. I have withdrawn from almost every relationship I have because most people seem exhausted by our chronic cycle and I have grown weary of apologizing for our reality.

Meghan’s tumor in her right thigh took up most of her high school and college years. ’19, ’22, ’23, and with the ultimate torture in the summer of ’24, she became a regular at PT during the years when kids her age were debating which party was better. A mere six months after the worst surgery by far, our New Year’s Eve was spent at NYU in recovery from her bilateral mastectomy. Which, in case you wanted a reference, she said was so much easier than the leg surgery. Well, pain wise anyway… but, I digress.

We are living inside of 2 PTEN mutated bodies with all the trials and tribulations that come with them. My own scans continue. Battles with insurance and radiology alike are the rule, not the exception. In the last 6 months two of our primary providers left their practices and the job of “training” a new doctor begins again.

Pride. Focus. Determination. Dedication.

Meghan and Ella graduated from Misericordia in May. Then, the difficult decision was made that retirement was in Ella’s best interest. Selflessly she put her best friend and closest companion ahead of herself. Again.

Ella is slowly transitioning to retired life with her “brothers.”

She left in early June, a year after that leg surgery that still has me traumatized. She walked away from me with her passport in hand, and traveled 2,500 miles to meet the one friend she will keep forever from her undergrad. They met in Vancouver and they had a 2 week adventure that included activities she had never even dreamed of being able to accomplish. She paid her own way with gifts carefully saved through her entire life. She is a traveler in her soul. This was the first of many journeys that passport will see.

We squeezed in a ton of appointments at the end of June, including beginning to “train” our new endocrinologist. One of the appointments was a pelvic ultrasound. She has had them frequently since her “endometrial hyperplasia” in 2015. And when the report popped into her chart that Friday afternoon – we knew it was going to need follow up.

Her gynecologist is just an utterly superb woman, who trusted me with her cell phone number at our first visit. I texted her and alerted her. She found the report, and we were scheduled to see her July 3rd. Classes started July 7th. Because.. why not?

Her biopsy was Saturday. I stayed with her until the IV was placed and we met up again in recovery. It is a dance so familiar to us that in and of itself it’s unsettling.

We don’t have results yet. But I am tired of waiting. I’m tired of waiting for the next thing to be finished before continuing our story.

This is an ongoing saga. PTEN mutations do not get “fixed.” We may find some lulls along the way, but waiting is so much a part of this life.

Meghan took this at a butterfly exhibit in NYC with her dad, on her grandfather’s camera. I thought the busted wing on this blue beauty was epic.

Meghan walked out of the procedure, stopped, looked me in the eye, and thanked me. Again. I told her to stop, and she said no. “I’m so happy I didn’t miss Friday night, because of that uncomfortable Saturday.”

Maybe that’s the lesson. Don’t miss Friday because Saturday holds a daunting reality.

Two 300 mile round trips in 18 hours. She didn’t skip a beat and was right on time for classes today where she belongs.

Here’s to hoping “It doesn’t suck” continues to transition…

#beatingcowdens

It Was “Ruff…” / Graduation and PTEN Awareness May 2025

Published on May 25, 2025May 25, 2025 by beatingcowdensLeave a comment

**Meghan’s faithful service dog, Ella taking a post- graduation rest.**

You’d think at 51 years old, I’d be in better control of my emotions. I mean, you’d think I’d at least have them labeled and organized. For all intents and purposes nothing is “new” here. We are formally 14 years into our Cowden’s journey, at least 14 years since our diagnosis of this mutation that permeates every cell in both of our bodies, and has done so since our births.

I think I have slowed down, and almost stopped writing, because I no longer know where to start. Literally decades have begun to blur together with the same pattern in an ugly loop.

“Don’t let it define you…” well meaning platitudes echo in my ear. And yet, Cowden Syndrome is at the very core of every action, every decision, every step we make. A genetic disorder is forever. We’ve lost friends and family over this reality. There will always be a medical challenge coexisting with whatever stage of life we are at. It just is.

Yet somehow, if we do not do our best to make others feel comfortable with our reality they back away. The “elephant in the room” is a metaphor we reference regularly. Cowden Syndrome needs to exist in every relationship we have. The acknowledgment that it is there and real, and never leaving is essential. And yet, once that is in place, we are more than happy talking and sharing and being part of literally everything else.

I’m told I am “intimidating.” Funny the power that words can have. That one rattles me. I don’t feel intimidating. What I am doing is surviving. I am navigating a wild ride we never asked to be on. I am organizing bills, and appointments and scheduling surgeries. While that is happening I am staying on top of my game at work, because I need my job, and I never know what crisis lurks around a corner.

What my girl is doing is enduring… with honors. “Gratitude, Grace and GRIT,” we sometimes call it.

You’ll meet your people in middle school… NOPE.

You’ll meet your people in high school… well maybe it could’ve been… but, Covid.

You’ll meet your people in college… well, maybe one or two keepers, but largely, no.

At her graduation on May 10th, we laughed, cried, hugged and ran the full gamut of emotions. She graduated Magna Cum Laude with a BS in Health Sciences. We, her mom and dad, beamed with pride. Her loyal service dog Ella was in some combination of attentiveness and exhaustion.

At some point there were tears, from both of us. Her, forever introspective, and me, wanting to fix it all. At one point she declared she felt as though she “survived” college, like it was some reality television show. But, there were many truths to her words.

She was accepted on a full, 4 year academic scholarship in 2021. She came entered as a swimmer in August of 2021 after a fragmented Covid swim year at home. She entered on new meds for a tumor in her right hamstring that had seen an embolization at the end of 2019 and was coming back at her – hard. That tumor nestled between the femur and the sciatic nerve was not to be beaten by the Lyrica that teased her with relief and beat her body with countless side effects.

In the summer after her freshman year, in May of 2022 there was another cryoablation to shrink this beast in her right thigh. This thing, initially measuring well over 5cm kept her nerves on fire, and the pain untouchable. She rehabbed in PT that summer and came back for her sophomore year.

During that year she dealt with drama in so many places I lost count. New relationships were not easy. It’s difficult to worry about teenage things when you are planning your next surgery, trying to ensure your transcript suits you for physician assistant school, and working daily in a fight with your body. Chronic, grueling, nerve pain isn’t exactly locker room talk. The classes were intense. The swimming schedule was rigorous and she did it all and ended that year, her last year as a swimmer, with a medal at championships.

That year also brought a past due formal diagnosis of ADHD. Not a shock, especially given the PTEN connection, but something I had with her on for a lot of years. Now, in the absence of me, my very capable kid knew what she needed, and got the diagnosis to check a necessary box. Little changed, but she was stepping into a role of self advocacy. I was sad it was necessary, and yet so proud.

The following summer, in 2023 she had another cryoablation. She was done not being able to sit, or stand, or walk, or move, or stay still without pain. Another swipe at this lingering tumor in her right leg. If they could get it off her nerve, maybe she could get some relief… There was work this summer, and PT, and pain, and the exhaustion of recovery. Again.

By the end of her junior year she had had it with the pain, and the orthopedic surgeon agreed finally to remove this beast from her leg. We spent the first week in June in the hospital- Meghan, me and Ella, with a few visits from her dad. The tumor was gone – as was a huge chunk of the muscle in her leg – all needed to clear the margins from the residue left from this tumor. In all my years and in all her well over 20 surgeries, I have never witnessed anything like that post operative pain. The amount of medication she needed, the assistance necessary just to move her… it was grueling. And isolating in the most epic ways.

That was the summer she completed all of her applications to Physician Assistant programs. Always on the ball, she kept her eye on the prize and got them all out – on time.

She spent her junior summer recovering, again. PT x3 days a week and a hybrid class to gain her certification as an EMT. She pulled through both and left us in August to begin her senior year. In a “grown up” apartment, off campus, just her and Ella. The doctor told her it would be 6-12 months before she felt like herself again, but even enduring the 3-6 month phase during the fall semester was progress over the pain she had been in. This one seemed to have finally given her some relief.

So we thought maybe she could catch a break. Until 2 breast lumps became 7 and the talk of a prophylactic double mastectomy to get in front of her 91% breast cancer risk got real – and fast. The surgery was scheduled for 12/31/24 – New Year’s Eve. She stayed with us through early February and then headed back up to school to knock off a few nonsense classes before her degree could be conferred.

That spring brought her the ability to decide to stay at Misericordia and begin her studies in their PA program in July of 2025.

So as we ran the gamut of emotions that graduation day – you can imagine that they were probably not too similar to those of her peers. She “survived” college indeed. “Survived” on a full scholarship and ended with a 3.85 GPA through some of the most ambitious electives I’ve ever seen.

“Don’t let it define you…”

I disagree. Let it define you. Let it make you stronger. Let it make you more determined. Let it make you less tolerant of BS and meanness. Let it make you full of compassion and kindness and all the things you have felt missing in the world.

When you have an all-consuming genetic disorder the notion that it won’t define you set’s you up for failure in my opinion. This diagnosis changed everything. It changed us.

May is PTEN Awareness month. I am lacking in my publicity of this. If our angle, our view is unorthodox and gives you trouble, please know we’re ok with that. This is not a one size fits all syndrome.

But for us, PTEN Awareness means also being AWARE. Being aware of ourselves, and our Cowden siblings across the globe.

We all face vastly different challenges. We all carry hope together as a beacon of light into the world.

We are pretty in touch with reality over here. We are acutely aware of the struggles of others in the world. We believe in sharing, supporting, and showing up. Pull up a chair for our “elephant” and let it have a seat in the room. We will gladly make a space for yours.

Then maybe we can all get about the business of loving on each other…

#beatingcowdens

#PTENAwareness

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

My Letter to the CEO of Disney

Published on December 13, 2024December 13, 2024 by beatingcowdens1 Comment

This is not the way I intended to talk about Meghan’s next surgery. However, as I have told her so many times before, we know ours is not the only story that needs telling, but who are we to complain about things that don’t change if we do not start conversations about things that are wrong?

We have been loyal Disney travelers since 2008. Today left me questioning a whole lot of things, and yet we remain

#beatingcowdens

Mr. Robert Iger

Chief Executive Officer

500 South Buena Vista Street

Burbank, CA 91521-4873

December 13, 2024

Dear Mr. Iger,

My daughter Meghan is a dynamic human. And while I doubt Mr. Iger himself will ever lay eyes on this letter, it is my hope that someone will hear her story and carry it with them. It is my hope that the next time someone looks to speak for the disabled, that Meghan’s story will weigh on their heart.

Meghan’s birth was tumultuous in the summer of 2003 and her health has remained an issue to date. Before her 5^th birthday she had already had 4 surgeries, and doctors were part of her every day existence. She was adept at blood draws and MRIs, and long car rides and emergency room visits. She had been hospitalized twice for infections her body could not fight without IV medicines – each a week at a time. She ran high fevers. The kind that made you stay up all night and stare, wondering if we would get through the night without an ambulance.

The pain was part of her long before her first words. There was aggressive therapy, physical, occupational and speech, all to fight delays in her development.

There were food allergies – gluten, dairy, corn, soy and egg at one point, that made going anywhere that involved food socially almost impossible. There were only a few birthday parties, where she would stare at the cake, and politely refuse the pizza. Those were the ones she wasn’t too sick to attend. Eventually the kids stopped inviting her. I mean, you need to be around to fit in, and a sick kid, an only child from a small immediate family was easily targeted as the outcast or the weird kid.

We took our first vacation as a family to Walt Disney World in the summer of 2008. Meghan was too weak to walk, but an adaptive stroller had been donated to us for the trip. We had a backpack full of medicines and contingency plans, but for a brief time that week, we got to be a regular family. We got to leave the medical world, and all it’s isolation behind. We got to fall in love with Chip and Dale and eat food safely prepared in real restaurants. It was just pure magic.

We returned often through the years. The medical issues never calmed down. The kids never got any more kind, well except for a few. The isolation increased exponentially and the week we spent every summer in Disney was the escape we all looked forward to.

It was soon after our trip to Disney in 2011 that Meghan was diagnosed with PTEN Hamartoma Tumor Syndrome, or Cowden Syndrome, a 1 in 200,000 genetic disorder that caused both benign and malignant tumors, as well as vascular malformations. I was diagnosed soon after her, and in the early part of 2012 I became a breast cancer survivor as my 8-year-old grappled with questions of her own mortality.

That adaptive stroller eventually became a wheelchair, as surgeries on her right leg alternated with vascular lesions in the hands and the loss of her thyroid. The weight she carried was heavy as a mass was found in her uterus, and my 12-year-old underwent a D&C, a uterine biopsy. Fortunately, that biopsy was negative, but there were way too many questions she was forced to grapple with, on topics no one twice her age would have wanted to contend with.

The surgeries never quit, often keeping pace with her age. But Meghan also never quit despite almost insurmountable odds she fought every single time she was told she could not do something. Despite isolation and loneliness, and despite an exhausting medical schedule, she never quit. She became an academic success story and generally a force to be reckoned with.

And almost every summer, sometime around the first week in August, we would find our way to the “Happiest Place on Earth.” Where even if only for a week, Meghan was able to find joy. Her physical needs were accommodated. Her dietary needs were never a problem, and were often handled magically. We bought into the Disney Vacation Club, committed to the place that made our daughter feel the joy and magic she so desperately sought in a cruel world. Life continued to beat her up, but Disney, that was her break. No one made her feel less than for having a few extra needs. She was made comfortable. She was made to feel like she was worthy of happiness.

This past summer in 2024, Meghan turned 21. She did not go out partying with friends. There are still only a handful of peers who are mature enough to even try to understand the level of physical torment that has been her life. Instead, she stayed home with her parents recovering from her 22^nd surgery – this one the most horrifying and invasive of them all.

A tumor had grown at the top of her right thigh. It was almost 5cm at one point, and butted up against her sciatic nerve. It caused unrelenting agony for 5 years prior to its excision. Her high school and college careers were punctuated by attempts to shrink that tumor through embolizations and cryoablations. Finally, her orthopedic surgeon told her it was small enough for him to remove. But he cautioned he would need to “fillet” her thigh to get it out.

The surgery was on June 3^rd. It took about 6 hours. The surgeon told me he removed 4 SQUARE inches of muscle from the back of her thigh. He told us it would take 6-12 months for her recovery. He explained the muscle spasms that take place as muscle dies, and new muscle regrows. But nothing he could have explained would have prepared me for the next 6 days in the hospital. Meghan and I were alone, visited only by her father. In all the surgeries I have had myself and in all I have walked her through I have never seen anything like what I saw that week.

The amount of medication it took for her to get even a brief rest was unnerving. She could not put any pressure on the back of her leg. She could not bend her hip greater that 60 degrees. There was literally no position of comfort or rest. I drove home from the hospital with the Narcan they had prescribed in my lap, and the rest of the opiods needed to keep her functional tucked in the back seat.

She spent the summer in Physical Therapy three times a week. She fought like a beast to get some of her mobility back and scale back the medications. She is my actual hero. And, while she was working so hard, we promised her that even though we missed Disney in the summer, we’d get her there for Christmas.

This girl, now a woman, entering her senior year in college, having endured the most grueling summer of her life, on sheer determination alone became a certified Emergency Medical Technician, and was dreaming of a trip to Disney with her parents.

Before we even had a chance to begin making plans, the screening breast sonogram for her PTEN Mutation, the Cowden Syndrome I mentioned earlier, came back with 7 notable lesions and a BIRADS 3 rating. She was advised to see a breast surgeon, which we immediately scheduled for her October break. PTEN patients have a 91% lifetime risk of breast cancer and those lesions clearly meant her time would come sooner rather than later.

We scheduled her bilateral mastectomy (yes, she’s 21) for December 31^st. We scheduled Disney for December 23-30.

But the week she is in Disney she cannot take any of the anti-inflammatory medicine that has carried her through the leg surgery. It will be a bleeding risk for her mastectomy. She cannot sit for any extended period of time. She cannot stand for any extended period of time. Her sleep is broken. She rarely rests.

So, when we were thinking about Disney we were thinking about the DAS – Disability Access Service- that we had used for the last 13 years. This year we were told we had to secure it in advance. We scheduled the meeting on line today.

I have to tell you I am nothing short of devastated by the way she was spoken to and the way the whole process has transformed. It was made clear that you have taken a system that was our lifeline, and transformed it into a system where only certain types of disabilities seem to matter, which ironically feels extraordinarily discriminatory.

The cast members on the call were too busy with platitudes and a poorly constructed party line to hear anything that was being said. They were too busy trying to check a box to realize my daughter does not fit in a box. They had never heard of her condition and did not care to listen.

Jackie Lynn determined that Meghan could use a wheelchair (she can’t sit on the 4-inch scar on her upper thigh comfortably for any length of time) and then she could “walk in place” on line if she needed to move, showing no understanding of the mechanisms that cause the swelling and pain all the way down to her foot. She needs to move to keep comfortable. Jackie Lynn told Meghan she “understood” and when Meghan countered that she could not actually understand, she replied “I do and I don’t appreciate you telling me I don’t.”

When we asked for a supervisor, Claudia actually mocked my daughter for her tears of pure exasperation, wondering what she was crying about when she hadn’t even gotten there. She refused to acknowledge that her only alternative to standing in the que was to separate our family of three was a crushing blow to a much-needed time spent together.

When we asked Claudia for her supervisor, she told there was no one. When we insisted that she has a boss, she told us it was no one where she was working, her boss was Mr. Iger. That is why this letter is directed to him.

Tonight, as I write this I am so hurt, and so angry that the place I considered the antithesis of discrimination could pick and choose which disabilities matter, and would refuse to acknowledge that some situations need special considerations. The world is not black and white. Not everything is easy, and not everything can be solved by a formula.

Not all disabilities are visible, and ignoring those like my daughter who pour their heart and soul into overcoming obstacles those 4 times her age have not had to face is unconscionable.

Meghan has had 22 surgeries. Meghan has had 12 surgeries on her right leg. Meghan lives in constant, unrelenting pain. Meghan is having surgery 23 on December 31 and will be in Disney without any pain medicine. All these are true facts.

Meghan will graduate with her college degree in May. She has attained high honors. She has been accepted into a Physician Assistant program for July of 2025. She has suffered with, and is managing ADHD on top of all of the above.

Parallel truths. Seemingly implausible opposite things can be simultaneously true. Sometimes these parallel truths indicate the reasons that rules should have criteria that is managed more broadly.

Disney, you really messed up here. We were among your biggest fans. We will take this non-refundable trip as scheduled, but we will cringe a bit when we see the DVC sign that says “Welcome Home…” as we all have seeds of doubt in our heart.

Signed, a very disheartened and disappointed mom,

Lori Ortega

No Rest for the Weary…

Published on October 6, 2024 by beatingcowdensLeave a comment

I have found when I am just exasperated by life, I get really quiet. Like hide in a corner, under a table in a dark room kind of quiet.

And if you’ve been looking for me, that’s where I’ve been since mid-August.

Mid- August, about 30 seconds after Meghan’s leg started to feel like it was ok to keep it attached to her body without the need to writhe in agony, is when we went for another one of her PTEN “routine” scans. Except nothing is routine when you have Cowden Syndrome.

So a few hours later when the report posted, we took a gut punch. There were definitely things to be concerned about.

And, when her gynecologist called the next day after reviewing the results it got a little harder to breathe. She said, even though the report suggested a 6 month follow-up, she wanted us to go in 3. And book her with a surgeon for a consult soon.

So we scheduled the follow up sonogram for the day before Thanksgiving. And we scheduled the surgeon(s) for her fall break – Thursday and Friday of this week. We will head into the city on the bus together. Not to see a show, or do some shopping, but rather to get her established at the Perlmutter Cancer Center, and learn our next steps.

Meghan and I have talked at length about the likely next steps. We just need the doctors to weigh in. We are not “getting ahead of ourselves” as some like to suggest. We have read more than our fair shares of scans and reports. We know when something is going south.

And so Meghan headed to her senior year of college in August with the crippling pain of her leg slowly receding, and the epic weight of this new news weighing her down like a stone hung around her neck.

Literally it felt like 30 seconds in between.

My beautiful girl continues to make life happen, she and Ella in their own, well-deserved apartment this year. But it is so hard to be free. It is so difficult to be present with peers who even if well-intentioned could not possibly relate.

My girl continues to interview for Physician Assistant programs and to proceed as if success is inevitable. Even though sleep eludes her. Even though her entire life seems to be in a state of flux.

I think about the people who tell us, alone or together that we should “reach out” when we are overwhelmed. And I wish with every fiber of my soul that instead those people, who are rightfully at a loss for words, would send a simple text to her. One that says you’re not as alone as you feel. One that says, it’s ok to talk to me. I will be here. And even if you can’t talk, even if you can’t form the words, I will keep checking on you. Because even though we are painfully aware everyone has something, sometimes the load is just too epic to carry alone.

When you have a chronic, cancer causing condition, there is always an appointment and a scan. But the longest time, the one that is the hardest and the loneliest, is the wait between scan and plan.

Those are the times where you just cannot focus on anything. That is when you are the most vulnerable and alone.

We’re not high maintenance people. But there is literally no rest for the weary.

We will be headed into the first of those 2 appointments midday on Thursday as we have done all the others – side by side.

Because when we are lonely, lost and overwhelmed we remember that we have each other, and a dad/husband who loves us both with his whole soul.

As we push through these next days we remain quietly…

#beatingcowdens

Tuck and Roll

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

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

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

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

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

The leg though…

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

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

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

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

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

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

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

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

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

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

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

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

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

Tuck. And. Roll.

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

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

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

The only way out is through.

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

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

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

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

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

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

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

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

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

#beatingcowdens

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…