Tag: worry

When Parents are Patients…

Published on by beatingcowdens4 Comments

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

***

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

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

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

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

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

***

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

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

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

This diagnosis changes you.

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

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

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

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

And together we continue

#beatingcowdens

No one else better to be #beatingcowdens alongside.

Difficult to talk to…

Published on by beatingcowdens1 Comment

That was the assessment of my sister-in-law, some time in 2004. She told me I was difficult to talk to, and I had no idea how to speak to children. There was a longer story than that, obviously, but her words were in my head today. It’s funny how certain things can stick around for decades. I’m not sure we’ve had a conversation of any length since then.

But, in fairness I don’t speak to too many people. Not because I don’t want to. In fact most of the time I would love to share a (caffeinated) beverage with any number of people. But, I don’t talk too much anymore.

I’ve kind of run out of things to say.

Pop music? Sports? Movies? Actors/ Actresses? Fashion? Influencers? I’ve got nothing. All out. I have NO IDEA.

Politics? I’ve got things that most people don’t want to hear. So that’s out too because I lack the energy to debate morality. And, well, as a chronically ill woman, who has held down a career, and not stunk at it for 29 years, and the mom of a chronically ill woman, who is well on her way to a career in healthcare, I lack the patience or desire to hold my tongue on certain things.

I’ve noticed there are people in life primed for a crisis. They love to help and jump all in until something is fixed. Those are amazing people. We knew a lot of them. We sometimes ARE them. They come in full force in a difficult situation, and then they wait for the issue to resolve so they can move on. They are wired for acute situations. Chronic medical drama requires a set of wiring most people don’t have.

What happens when the crisis rolls into another? What of the tests that have more tests to follow, and scanxiety that leads to procedures and surgeries where we then wait for biopsy results? What happens when multiple body systems get involved at the same time and prevention and survival crash into each other?

Unfixable situations make people uncomfortable. They want to lob well meaning suggestions about “not worrying so much,” or “is all that really necessary?” They want to pretend it’s not happening. They avoid basic questions because the answers make them uncomfortable. They avoid learning more about our rare disease because it is pretty intense.

My 50s have brought me to a place where I have tired of making reality softer to make other people feel better.

We’re not head in the sand people. We are face it head on, be healthy and strong for as long as God fills our lungs with air and of people. And that has meant some chronic string of medical insanity.

PTEN can’t be fixed. It’s a broken gene. It permeates every cell in the body. It is with us forever, with all of its tests, and scans, and tumors, and surgeries, and all the subsequent PTSD from too many hospital stays; and too many incompetent, insensitive, and often uneducated medical professionals.

They decorate the hospitals. For the seasons. I guess it makes sense. But, it always seems kind of odd while we’re there. The decorations help mark time on the calendar and keep us aware of what’s happening in the rest of the world.

I will stand by the fact that I wish they would provide my greatest need – caffeine in a bottle for the coffee averse among us. I cannot commit to a can. If you’ve been in a recovery room, you felt that on some level. I just want a bottle that I can close back up and return to as needed while pretending I care about my Facebook feed or the random game of solitaire I play.

We tend to mark time in pre surgical selfies and waiting room photos. To each their own I guess.

On December 16th we were in a “pre-surgical” room where I recognized the photo on the wall from a stay in 2017. It was 3 penguins. I distinctly remember because it reminded me of our family. That’s a whole new level of weird. And it’s not exactly table conversation.

Every time I think we will get a breath, it gets more intense not less. and I retreat. Into a shell. In my house. Where the act of going outside and pretending I understand a culture that I have not been part of for well over 2 decades is simply too much.

I got invited to dinner yesterday. It was a sincere invitation to a celebration. I couldn’t get out of my own way. The anxiety swallowed me whole.

I promise I’m not wickedly self-absorbed. I actually am a pretty good listener. I am decent at looking involved at tables where I have nothing to contribute.

I’ve become more empathetic as I age.

I know people around me suffer challenges and crises all the time. I sometimes feel guilty taking my own time to deal with the things heavy on my heart. My Grandma was quick to remind me “it could be worse.” She wasn’t wrong.

But, just because it could be worse, doesn’t mean that something doesn’t suck. And just because it sucks doesn’t mean that you get to lie around and freak out. Or hide in your bed and whine for too long.

Because we only get one go round on this earth. And the only way out – is through.

Wishing you health in 2026. Because little matters more.

We remain…

#beatingcowdens

“It Doesn’t Suck”

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“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

Rare Disease Day 2025

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

#beatingcowdens

Just Let Me Know if I Can Do Anything….

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Spoiler alert…

If they are messed up enough from something, a loss, a trauma, or literally ANYTHING that prompts you to ask that question, they are likely INCAPABLE of figuring out what they need, let alone asking you to do it.

My advice to you – SHOW UP.

My further advice is if you are not prepared to listen, sometimes to heavy things, or if you are not prepared to leave your judgment behind, and support them, KEEP GOING. When you offer to do ANYTHING, many times it will not be a THING. Many times it will be letting them talk out their pain, anger, grief, recovery, fear, difficult decision…etc.

But if you truly want to show up, and are prepared that they may actually reply in a way that requires you to do so, then I offer these examples of showing up in increasing levels of challenging in case you like to start small:

*When you are checking on someone, whenever possible, check DIRECTLY on them. Use their own cell phone. Text them. Call them. Checking on someone by proxy may be easier for you, but it’s not helpful to the person suffering.

  • Text. Even If you don’t know what to say. Text anyway. There a million cute emojis that can signal to a human that they are on your mind. Don’t assume they know. Again, if you were prompted to make the statement above, they are in a whirlwind of pain. They literally can’t tell you what they need. Except knowing you’re thinking of them helps. And they can’t know without you reaching out because they are not psychic. One. Single. Emoji. Counts.
  • Text words. Even if you don’t know what to say, but you are more daring than the emoji only suggestion above, use words. Simple words. I’m thinking of you. I hope you see a pretty flower today. You are loved. Or any variation of the above.
  • Text invitations for them. This gets a little trickier because you may have to try a few times. But, “Hey, I’m free for a few, do you want to vent?” Or “Feel like chatting? I can call.” Or, if you live close, “I’d love to pick you up and take you for an ice cream, cup of coffee, loud scream in the park, swing on the swings….” etc. are all good suggestions. These invitations make someone feel valuable, and not pressured. They make them feel like they are on your mind and worth your time. They are currently doubting this while feeling like they are “too much” for human contact and worried that they will drag you down into their abyss.
  • Call them. Now to some this is terrifying, but here is a spoiler alert. Cell phones make it easy to bypass calls that come at difficult times. So if you call them, and they can’t talk, leave them a voicemail telling them they are on your mind, and invite them to call or text you. Hearing your voice may be just what they need.
  • Offer to meet them. Doing something they like. On terms that are good for both of you. Maybe a walk in the park. (Someone did that for me last week and it was so amazingly helpful. 🙂 )Anything that no one feels cornered by works
  • Stop by. Yep, it might seem freaky in this age of minimal contact, but try it. Showing up in person to just sit with someone in their pain is amazingly therapeutic, and might make you feel good too. And when you stop by, be content to sit in a messy, chaotic space and need only a glass of water.

They likely do not want an opinion or a suggestion, or a platitude. If you feel compelled to give those… you may want to refer to paragraph 4 above the picture.

They may never choose to offload their burden, or they may do it repeatedly. I have found once you allow the “elephant” to sit in the room with you, and you acknowledge it is there it becomes an understood, albeit unwanted guest. But only once you have offered that “elephant” a spot in the room, and acknowledged that you see it, can things move forward. At that point, topics change for a time, and sometimes people even laugh. It’s incredible. And when the person needs you again it is so much easier, because they know the “elephant” a bit. They know it is there. No one needs to start from zero again.

If you have truly decided to show up, then whatever way you decide to show up. Do it. Don’t make yourself feel better by saying “I didn’t want to bother them.” They’re bothered. Their life is in turmoil. Your caring will not make them feel worse. I can almost guarantee it.

The older I get the less I understand social dynamics, and the more of a recluse I become.

I am pretty in touch with real life. I am totally aware that other people have epic chaos in their lives. As a matter of fact I would dare to say, when given the chance, I am a pretty good listener. To be honest, I enjoy the opportunity to listen because it means someone cares enough to share their life with me. But chronic illnesses are, well, CHRONIC. Genetic disorders are FOREVER. And I am finding that people, the same ones who can be so supportive in the moment, experience fatigue over the CHRONIC nature of Cowden’s Syndrome. I mean, there’s a pretty good chance every time you speak to Meghan or I there is a new chapter in the life of medical drama.

Sometimes we want to talk about it. Sometimes we want to ignore it. Sometimes we want to sit under a table in a dark room and cry. Sometimes we want to scream. Sometimes we are sad. Sometimes we are scared. Sometimes it’s an ugly combination of all of the above.

Most of the time we feel lonely and isolated.

Yet, we dust off and keep moving forward. Not in a quest for a medal or accolades, but with the fervent desire to do what we can to live the life we’ve been given to the best of our ability in these often faulty bodies.

A screening scan in August that was less than stellar tipped off a lengthy week in October that will bridge to another surgery for Meghan in January.

One day soon we will share more about it.

But for today I will leave this here…

Whether you are reading this because you know us, or this found its way into your path because you have someone in your life to whom you have said “Just let me know if I can do anything…,” please show up for them. In some way, shape, or form, show up.

I hate a lot of things about cell phones. I love the ease with which we can show up for each other.

Never in the history of text messaging have I seen or heard of someone who felt angry or sad that someone checked in on them.

In this age of disconnectedness… SHOW UP….

#beatingcowdens

Have you had any surgeries?

Published on by beatingcowdens4 Comments

It’s an actual question people ask. And I guess it is a fair question for most people. But, we aren’t most people. We are 1 in 200,000 tumor growing Cowden’s Syndrome people.

The question makes everyone in the room uncomfortable because when they start to realize the over 20 surgeries for my girl alone will NEVER fit on the three lines they allow, they ask me to prioritize. But, I have. And the are all important. I even print them out so they don’t have to rewrite them.

It’s like the medication question. Yep. There are a bunch. Yep. They all have value. Yep. They all have side effects. Good for you that you have never even taken a Tylenol. God Bless you and your healthy pain free body. But be careful not to imply that it is even a choice not to control the unrelenting pain somehow. I mean, you want us to behave like decent humans right? Because you can’t have us pleasant and medication free, If you want to be sure maybe we can place a giant tumor on your sciatic nerve. Or let you contend with the after effects of a high flow AVM in your knee, and the shifted patella, or in my case a boatload of hemangiomas on your spleen, and bodies that are just off sides 24/7/365.

I wonder how people would react if I started asking the same question of them…. “What do you mean you haven’t had ANY surgeries?” People find our lives odd. They like to throw well intentioned platitudes. “Is she better now?” “Is it fixed?” “She’s so strong.”

Yep. We’re strong. The weight is heavy. Oppressive at times. The trauma is real and ever present. And to the well intentioned “You should see a therapist…” yep, we’ve got it thanks.

But, no. It’s not “fixed.” It’ll never be fixed because the broken PTEN gene proliferates every cell of our bodies. It has taken a toll on our bodies, and will continue to do so. Active surveillance for cancers and tumors that are flat out likely to grow and show up is just our reality.

It has taken a toll on our spirits. Differently, yet a significant toll on both of us. We are a lot. Chronic issues make even the most well intentioned people uncomfortable. Pain changes you. Trauma changes you.

This life can be so lonely. It is hard to relate to experiences and people when your reality makes most uncomfortable. The isolation becomes easier to manage than the abandonment.

We are a lot.

We are often defensive. Being left behind so often will do that. Being judged too early and too often will do that too.

I think today as I wait for a surgical update I am just tired.

We arrived at 5:30 at 7:30 they rolled her away from me.

Our hopes and dreams right now rest on the resection of her thigh muscle to remove a tumor situated somewhere between her femur and her sciatic nerve.

As I sit here with Ella her service dog, praying and waiting, I can’t help but choose hope.

This girl, well woman, is a force to be reckoned with. The number of appointments she has crammed into the last 3 week is ridiculous. She’s taking an EMT class 12 hours a week with her dearest friend, and took the GRE for the second time at 9:30 PM LAST NIGHT, then submitted 6 applications to physician assistant programs for next fall before closing her eyes for about 2 hours.

She is so determined to overcome all the chaos that has been her life and do BETTER for other that she inspires me.

Join me in HOPE and prayer for the successful removal of this tumor with complete and total nerve function in tact.

Because, What if it all works out?

#beaitngcowdens

A few photos from our pre-op selfie tradition this AM…

Dark Days/Finding the Light

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I am a March-August kind of girl. I love warm weather and lots of sunlight. Long walks are my favorite. There is nothing that soothes me more than putting on a pair of sneakers, putting my music on, and just going.

I find the fall stressful. Maybe it’s years of being a teacher. There is hopeful anticipation about school in September, but the organization and logistics take forever, and the fall germs are just… a lot.

Before I have time to look up, the days are getting shorter, the leaves are falling, and it is time to pull out the sweaters.

I go through the motions dutifully, cleaning and organizing, but I lack the excited anticipation people have when they smell pumpkin spice and start to see their breath. I just don’t get it.

I think I was always this way, but in fairness, so many emotional events in the fall and winter may have given me the final shove into my aversion for those seasons and bolstered my affinity for my spring allergies.

Given all that, it might seem contrary to say that we decorate early for Christmas, but we do.

Remember, I love the light.

Our tree is up by Thanksgiving, and the lights around the house are on every possible second. I love buying and wrapping gifts. I take comfort in our advent calendar and the excitement of the impending arrival of the baby Jesus.

My faith anchors me through the tumultuous turns life tends to take. It keeps me grounded and focused on the fact that this life is merely a stopping point on a journey to forever.

I grew up in a church. I spent so much of my life there as a child, and a teen that I could navigate the building with my eyes closed. I stayed at that same church after my husband and I met, and it was there that we married and had our daughter baptized.

And as ironic as it is, it is the place I had to walk away from when our worlds got turned upside down with all things PTEN and Cowdens Syndrome. I had to walk away from the place to continue to nurture my faith.

When you grow up in a community of faith, it is hard to accept that reality. I miss weekly services, Angel Trees, and Christmas shows. And sometimes that disconnect can make the dark days extra hard. Yet, in the apparent contradiction that is often reality, my faith has continued to grow through the years.

So, this morning my new normal involved my air pods, my iPad, and my orchids.

Today I “went” to church in Buffalo and in Sarasota, and I never left my house. I sang and prayed and smiled and pondered through Western New York Church Unleashed, and Faith Lutheran Church in Sarasota, Florida. The pastors are comforting and familiar, especially Eric, my brother-in-law in Florida, and also Roger, Jeremiah, and Steve in Western New York whom I have never met. The same internet which often isolates us from each other, keeps me connected to my faith through Advent and beyond.

I took some time with my orchids. My beautiful, perfectly imperfect orchids, that I feel a strong kinship with. Somehow, despite the odds, and without any traditional interventions, they blossom and grow in the most amazing ways.

I spend too much time alone and find it easy to be lost in, and overwhelmed by my own thoughts. Cowden Syndrome is ever present in our minds and bodies, even when the medical drama is on “pause.” The anxiety and anticipation of a lifetime of justifiable worry can make so many things, just hard.

Today I was reminded to give thanks in all circumstances. I was reminded to pray without ceasing, and I was told that you can have joy in your heart, even when you are not happy. 

Life is a contradiction. Emotions yield guilt way too often. But, I have learned that feeling all the feelings is the only way I will survive and thrive in this crazy life.

I do not like the winter. I will never enjoy the darkness. I love the lights of Christmas and I eagerly await the birth of the baby Jesus.

I promise to stop and smell the “orchids” while anxiously waiting for the first sneezes of spring.

Wishing you and yours peace throughout this season.

#beatingcowdens

Ella, Buddy, and Jax bring us so much joy…

The Rain…

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I walk past a sign in my hallway regularly. It has the familiar phrase, “Life is not about waiting for the storm to pass, it’s about learning to dance in the rain.”

I think about other cliche phrases like, “Into every life, some rain must fall,” or, “You can’t have a rainbow without a little rain.”

And I picture a mom and a daughter in their rain boots, splashing and laughing with a rainbow peeking through the clouds.

Then I retreat further into my corner, chastising myself for even being a failure at that.

I am a rational person. I am numbers, data, and spreadsheets all day. I understand the gravity of world events. I comprehend and ache for epic loss, severe illness, and struggles right around the block. I have gratitude for abundant blessings. I adore my husband. I am watching my daughter flourish on her own at college. I believe in God, and have faith that we are in a resting place on the journey to eternal life.

Yet, I struggle.

And as I have mentioned so many times before, the reality of “parallel truths” sometimes aches in the depths of my soul.

The rain, right now, feels more like a neverending storm cloud. Some days I do not see the sun at all, even when I know it is shining brightly. And I mean that literally and metaphorically.

I have always been one to keep it real. Especially here. I want a mom who finds this page for the first time, soon after a diagnosis like ours to feel there is hope. There are kindred spirits along the road they are about to get on. Yet, I will not ever lie to them. They already know the truth in their hearts. This is not an easy journey.

It took a long while to rid my daily encounters of those who are prone to “toxic positivity.” As I said before, I am acutely aware the blessings of this disease come from the “warning flares” we get along the way. And as I watch others suffer from cancers they did not see coming, I give thanks.

But, I am tired. And I am allowed. This endless cycle of medical procedures, of surveillance, of surgey, of billing battles, and the like, is not for the faint of heart. And if I want to maintain the strength to continue this journey at the top of my game, I need to allow myself to find a bench and sit and rest. I need to acknowledge sometimes it is raining sideways, with hail, and lightning. Sometimes I have no jacket on. Sometimes my hair is matted and I am chilly from weathering the storm.

In the more than a decade that we have traveled this road, I have learned stamina is essential. I have learned it is often lonely. I have learned that there are no holidays. I have learned that “regular life” still comes for you, even on this Rare Disease pathway.

And if I am honest my biggest struggle currently is my search for a new “release.” I love to walk. Well, I loved to walk. Hours, miles, music in my ears, sunglasses on my face. Apple pay for a bottle of water now and again. It was how I kept myself together in the early years. A new pair of sneakers and a FitBit. My luxuries. Except, my foot. January 2019. Before the world shut down, everything changed. And honestly, the single thing that has been the hardest to overcome, far more than the loss of my breasts, my uterus, my thyroid or anything else this disease tries to take, is the loss of those free, endless, peaceful walks.

Because on those walks I would appreciate the birds, the flowers, and the smiling children. On those walks, I would sometimes sing at the top of my lungs without a care in the world. On those walks I let it all go, I detoured off the main road, and I always found my way back, better, and stronger.

I can’t walk far right now. Every step sends pain up my left leg from the foot that twisted on a child’s chair in my classroom over three years ago. I CAN walk, but it hurts. And instead of setting me free, it makes the weight of the world heavier. And when I try to push, I am reminded of the new pain in my opposite knee, and the muscle knot in the side of my leg, where the body tries to compensate for the limp I try to hide. On the days I work, I count each step. I ration the Advil. I take the stronger medication at night, so I can try to sleep. I wrap it, I brace the other knee that is failing, carefully under my jeans. I am never without the painful reminder of that injury.

I don’t know if it will ever get well. I have not given up trying, but I just don’t know.

And sometimes, like when the Cowden’s syndrome seems to be at play for a bizarre sudden overgrowth of the gums, and the fitting of a crown becomes oral surgery along the way, or when the girl falls miles away and breaks her wrist, or when the HVAC fails with an open-ended repair bill, or when the husband’s company closes, and the list keeps going, and everything changes, I get totally overwhelmed. And I fall behind on Cowden’s things and “regular” things. I kid my daughter that she is allergic to change. I am sure it is something she got from me, besides a faulty PTEN gene and wild curly hair.

I want to take a walk.

But instead, I sit. In the middle of the storm. I sit cold and soaking wet and cranky and lost. And I long for a release.

But, inevitably someone sits beside me. Someone I dearly love. And they hold my hand and give me a hug, and they just sit. And slowly, out of the corner of the sky comes the tiniest ray of sun. And before I know it, there are birds and a rainbow. And being wet doesn’t feel so messy or lonely anymore. And as the sun starts to warm my body and dry my clothes, I find the strength to stand up and move forward. It’s not dancing, but it is moving. Even if it is ever so slowly.

I reach out and hug my husband, and my daughter. And I remember my second favorite release is to nurture my underattended blog.

#beatingcowdens

#beatingcowdens Goes to College!

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There are normal feelings I have right now. Like when I look at my adult packing for college and all I see is this.

I have all the normal swings of emotion of watching your baby grow up. I feel all the things you feel after you give them roots, and by God’s grace they grow the most beautiful wings. There is normal anxiety, about them making new friends, and finding their way around and starting a whole new life. Without you. During a global pandemic. After at least a year of abbreviated, altered and just not quite right classes and other human interaction. In all of this I am in good company.

Then, there is the added layer of letting your medically complex child free.

This is the child who screamed with colic for over a year while people told me it was just normal. This is the child who had her first surgery at a few months of age, only to have a baffled surgeon come out of an operating room to tell me the hernia “wasn’t there.” That was just a preview of things to come.

This is the child who was so overwhelmed with GI pain she became a sensory overloaded mess. This is the child who missed milestones, and who had early intervention services of OT, PT and Speech that eventually graduated into an IEP that only terminated in June. Yes, June of 2021.

This is the child who needed a timer to move from one side of the room to the other in PreK as her loving teachers guided her.

This is the child who wanted to run like the wind, but could not ever figure out why it hurt. This child we would later find was managing an arteriovenous malformation in her right knee. That knee. Seven surgeries on that knee. Years with the best Physical Therapist in the land. But, we did stop soccer, and dance. And maybe that was for the best. Maybe she has her mother’s coordination.

This is the child who the kindergarten teacher told me in November was “pretty far behind.” I told her to encourage but not to push. I would be just as proud of her as long as she did her best. Then, that same child got glasses. And with the nurturing love of that kindergarten teacher, combined with God’s GIFT in paraprofessionals she soared. This same child, by March had had her first knee surgery, recovered, and was sitting with the top quarter of her class. This child does not like to be kept down.

This is the child, who spent years sick with chronic viral infections. This child hung with me through mainstream and alternative treatments. She pushed me to push forward for her. This child and I went through hell together. We learned each other on the Belt Parkway and the BQE. And somehow we found beauty on the journey.

This is the child, diagnosed with Cowden’s Syndrome at the age of 8, whose diagnosis prompted mine. This is the child, my angel on earth, who saved my life with her diagnosis, as my breast cancer was caught oh, so early.

This is the child who never quite found her way with other kids. They just didn’t “get” each other. Some were so kind, but couldn’t connect. Many were terribly mean and maligned and belittled and tortured and tormented her soul. This is the child who would not break. Trauma after trauma. Surgery after surgery. Medical procedures layered on top of one another. This is the child who sometimes cried in my arms and other times locked it all behind walls. This child. This medical life. There are experiences that shape you, that make you who you are.

This is the child who chose her high school. Deliberately. She wanted to be with kids who were more in touch with real life. This child grew, through love and resilience and inner strength and therapy to learn all about herself. This is the child who found her way to God and a few special friends, finally, and not at all accidentally, right about the same time.

This child waited years for the service dog. The one to manage the needs that had developed through a medically complex life. Ella and she met in January, and the love in their eyes tells me it was worth the wait.

I abbreviate the tales of this child and her journey. I do that because it would make it too overwhelming for you. I do it because the chronicles mostly sit in the last ten years of this blog and sometimes the gut wrenching journey need not be relived in intricate detail. I abbreviate for my sake, because I can appreciate that God’s biggest gift to me is allowing some really traumatizing memories to fade just enough that I can actually breathe as I recall them.

If you ever want stories, I have them for weeks. If you ever need to tell your tales, I am here.

This journey to college has been a long time coming. My college athlete and scholar got there on “Gratitude, Grace and Grit.” That full academic scholarship- that took the resilience to overcome 17 surgeries, remain in top honors, and recover the body every single time to return to the water. Through it this child turned her experiences into compassion and a desire to care for others. As she puts it, she wants to “do better” for people like herself. And there is room. Plenty of room to do just that my girl.

This journey took learning how to manage to moment to moment pain of Arteriovenous Malformations, as a new one has developed in her thigh, and channel that pain into usable energy. To look into the eyes of your baby, the eyes of your one and only 18 year old baby, and to know they will likely never be pain free, is a special kind of torture.

This child, now an adult, will have one more virtual visit, with one more new doctor, before we load the cars. And we have all the fun stuff, favorite sweatshirts, and a pretty comforter. We also have daily pill cases, morning and night, set for 4 weeks. Along with a literal bucket of the “just in case” medications to get her through. There are gluten, dairy and soy free snacks. There are toys and treats for Ella.

There is a whole lot of new.

My heart is full of hope. While the medical problems travel with her, she has reached an age where many kids have seen life, and are generally more tolerant of humans. My heart is full of hope for new experiences, for laughs, and friendships that will form.

My child leaves with less experience in some areas, and so much more in others. And my hope, my prayer is that in this place there will be balance.

I am with all my other mother friends, leaving their children at college.

My heart is with my mother friends who will never have the privilege to experience this “going away to college.”

My heart is with my mother friends whose babies no longer walk this earth, but cover us all with their angel wings.

I have learned from all of you.

And as I cry, because I will cry, I will also absorb the magnitude of the fact that this is happening.

As we told her doctor many years ago… “every step of the journey IS the journey.”

We remain #beatingcowdens

Exhale…

Published on by beatingcowdens4 Comments

Meghan and Ella have been settling in so well together.  Jax and Ella are fast friends.  April and Ella will be polite acquaintances.  Ella is playing, running, eating, and sleeping.  She is adjusting to life in our home and seems to be enjoying it.

The most prominent lingering fear surrounded the lump on her side.

We gathered the notes from the vet in Indiana.  We put all her paperwork together.  The entire Ortega kennel had vet appointments today.  So, we headed out for the first time as a party of 6- 18 legs, and 3 tails.

Our veterinarian is thorough.  He has treated our dogs well.  April needed some lab work for a persistent problem we’re working on.  Jax needed to be caught up with some shots.  And, Ella, well, that pretty girl needed to get started in her next phase of life.

The vet took her in and did a complete exam.  He read the sparse notes we carried with us from Indiana.  He looked at the photos of the lump on her side.

He called to tell us that we should start her vaccinations, as he could only verify rabies.  He told us he did a heartworm test that was negative for heartworms.  He drew blood.  That “should be nothing” later this week.

And, since in these Covid times, all news comes via phone from outside the vet’s office, the three of us sat quietly while we waited.

“And the lump?”

“It’s her rib.”

Collective exhaling throughout the car…

“Her RIB?”

“Yes, if you trace along the bone it’ll take you to her spine.  Most people never feel it.  Ella is very lean.”

Fist pumping and smiling took place for a few minutes.

We live in a worst-case scenario existence.  It is so rare that it goes well.  And, yet, today, was a win.

Nerves shot for no reason. I have no idea what happened in that office, or why the vet said hernia 750 miles ago.  But this is a win.  I’ll take it all day every day.

It looks like the rest of life really does start now.

Meghan and Ella… onward.

#beatingcowdens