Tag: pten mutation

Finding Strength in Struggles: A Mother-Daughter Story #beatingcowdens

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They never go away. Your experiences, that is. Our lives are literally made of them. And in all of our lives, some are happy, some are sad, others are joyful, or sometimes traumatic. We can’t change them. The glue that holds us together is how we deal with them.

After I crested 50 I became more introspective. I guess the decades between 2003 and 2023 saw most of my existence in survival mode. I would look at my friends with multiple children and think, “that must be so hard.” And I am sure it was. In a moment I can be full of empathy for anyone in any situation. What I never realized, or thought about, or spent too much time on was that our life was a daily challenge to survive as well.

Comparison is a devil’s tool in my opinion. So, I try my best to leave it alone. And in reality it doesn’t matter how you see someone else’s life or how they see yours. Social media is an illusion, and even this blog is often carefully worded to step over the darkest parts.

I only know my own life. And as my girl has grown, I have more time to reflect, and make changes as I need to. I am learning to give myself grace, to focus on my strengths and to set limits. I get tired. And allowing myself to feel that sometimes is a big step.

However, life is about balance. And negative speak drives me wild. I’m not one who likes to say things that are untrue, but I push to find the best in anything. Sometimes I fail. Mostly I succeed. Always, I try.

I spent decades holding myself together with superglue. And it gave me perspective and gratitude that allow me to be alone with myself a great deal, and still have peace.

We only get one go round on this earth, we might as well make the best of it. This earth is far from all I have, and I live with joyful anticipation of heaven, whenever God sees fit to take me from here. But, while I am here…

I am full of gratitude for my husband of 25 years. He is often the unspoken hero in our Cowden Syndrome tale. He has done more behind the scenes work to keep us afloat than anyone besides me knows, and he prefers it that way. The fact that we not only love each other after this many years, but we also still LIKE each other, well, that is everything. We share goals and hopes and dreams. And we share our love and respect for our feisty young woman.

I am grateful for survival. I am not sure why I was fortunate enough that my breast cancer was caught so early that I required no treatment beyond my surgery. But, in this pink washed month I am reminded of those who were not so fortunate. I am reminded of the wonders of modern medicine. I never forget the doctor who diagnosed our PTEN mutation, and the urgency with which he spoke to me, telling me of the cancer risks that “peak right around 40.” I am thankful that my daughter’s breast changes were found at such an early age, and that her screenings began when they did. I am amazed at her strength as she chose to get in front of her virtually inevitable breast cancer risk.

I have a hard time fitting in in groups. It’s not because I don’t like people. It is because a lifetime of a complex medical history, a daughter with a complex medical history and a rare disease diagnosis left little time for hobbies. I cannot relate to people too easily. My girl’s youth was definitely not “typical” of today’s world, and truthfully I don’t fully understand a lot of this world. It’s not necessarily a better/ worse situation as much as it is a very different existence.

Medical trauma is real. That I know for sure. I am exhausted. I am forever changed. But, I’m not mad about it. It just is. Like I said before, you get one go round on this earth. You get one body to work with. You do the best you can with the one you have. If you know you know, but if you don’t that’s actually better for you. It makes me happy, albeit confused, when I have to remember that there are people my own age that have never had, a single surgery, an MRI, a CT scan, etc. It doesn’t mean their life was easy. But, it does mean perhaps that we use a different brand of superglue to keep ourselves together.

Meghan calls me from her Physician Associate program in PA often. We talk several times a day and text throughout. Maybe that’s a mother/ daughter thing, but I don’t think so. I think it’s a friendship that has been forged by a similar life philosophy and work ethic. I think it is a product of our shared experiences, and the desire to make the best out of the lives we have. I know she makes me better. A better mom, a better teacher, and a generally better human. I think I do the same for her.

For a while I wondered if it wasn’t good for her to be this close to me. Now I know that’s nonsense. I think we all seek people who “get” us, and situations where we can be real. It’s not a place where any of us can live 24/7. We have to survive in the real world, meeting people from a vast variety of experiences where they are. But, I like being her landing spot, a place she always knows is ready for her, and a place where she is secure enough to be herself.

I am unapologetically proud of my daughter. My heart bursts when she explains how she works to do better, and to be better. She fully understands that we all are a work in progress, and she actively focuses on understanding her own strengths and weaknesses. She is a realist. She is honest. She is driven. She is tenacious. She never quits. She tucks and rolls through adversity like it is her job. (And, well, maybe it has been.) She is compassionate in a way that blows my mind.

She is so compassionate that at one of the most vulnerable junctures in her life, she parted with her own superglue, her service dog Ella, so that Ella could have a better life. Ella and she grew up together in college. Ella sat through classes, and exams, and up and down moments in Meghan’s day to day life. And, when things weren’t quite right with Ella and her overall well-being, my girl put HER girl first. Ella is retired now, living comfortably with us and her two furry brothers. Meghan soldiers on without her bestie by her side. She is forming her own superglue from within the cells of her rare and spectacular self.

The three furry siblings on the way home from visiting Meghan.

Recently we took Ella for a “Retirement” photo shoot. Natalie https://natalielicinicreative.com captured the love these two have for each other in a most magical way.

Photo Credit https://www.facebook.com/NatalieLiciniCreative
Photo Credit https://www.facebook.com/NatalieLiciniCreative
Photo Credit https://www.facebook.com/NatalieLiciniCreative
Photo Credit https://www.facebook.com/NatalieLiciniCreative

If you’ve read this far, thank you. I started this blog over 10 years ago to chronicle our journey. And I have not reread a single post. I have worked so hard pressing forward, and sharing our story in the event it could help someone else, that there has been no time to look back. In truth, there’s not point. We’re not going that way anyway. So from wherever the 285K plus hits on this blog have come, thank you.

In fact, as I reflect, blogging has kept me sane. Putting my thoughts together helps cleanse my crowded head and focus myself on the important things. And I think, being able to focus on what matters, is in fact my own superglue.

#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

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

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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

Perfectly Imperfect- Orchids and Life Lessons

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I don’t remember when I got the first orchid. I don’t remember who gave it to me or even what color it was. I remember it was after looking through droves of flower photos from my father’s images after he passed away in December of 2013.

Dad loved to take pictures. And he saw things in ways other people didn’t. For better or worse depending on your perspective. My relationship with him took many different forms during the 4 decades we shared this earth. Truthfully for most of the first 3 decades he wasn’t part of my life really at all. That last decade though, where lots of things got sorted out, well, that decade was pretty magical and I am forever grateful for it.

It wasn’t long after the orchid landed in my front window that it became evident the window was meant for these plants. It thrived, and held onto its bloom for months. I was captivated.

Not being too easy to buy gifts for, the next year or so was filled with new orchids, as I fumbled my way though learning how to best help them grow.

I poked around the internet to get tips on how to grow orchids. These people were intense. Installing lights to keep the leaves straight, creating a drainage system, tracking the growth of specific flowers.

I was out. There could be nothing in my life meant to remind me of beauty that took so much work.

I was officially winging it.

I felt more comfortable immediately.

I was at the time the mom of a recently diagnosed tween with a rare disease that I also shared. We were learning and figuring and trying to stay afloat. I was trying to learn my new body after my bilateral mastectomy and the shove into menopause from my full hysterectomy in 2012. My grandparents were suddenly aging. My relationship with my church was falling apart. I kept smiling, and telling everyone we had it all under control. But we didn’t. I was winging my whole life.

Somehow though I was interested enough in the orchids to keep them alive and happy. They became a hobby, and a reminder that there is beauty in everything if we know how to look. My orchids helped me with perspective.

They helped me appreciate the beauty of creation. They helped me when I was alone after a foot injury in 2019 and when the world turned upside down with the pandemic in 2020.

I came to spend a lot of time looking out the front window, fussing with leaves and stems, and just admiring the tenacity of these beautiful plants. I think the fact that I just let them be and grow their own way has been the most important lesson of all.

But, there are countless other things these plants have taught me.

This one was supposed to be dead from “root rot.” Plants don’t survive once the rot hits the main root. Someone forgot to tell the plant. After a few years of nurturing it bloomed this month. Patience. Determination. Don’t give up. Trust your instincts.

And this one, such beautiful flowers. And if you only glance at it that is all you will see.

But it is struggling. Its leaves show signs of distress. I tried repotting it. I tried leaving it alone. Some days I just stand by this one and wonder what it’s going through. By being present and attentive, I’m hoping one day I will be able to give it the support it needs. We may look like we have it all together on the outside, but it may be taking everything we have to produce that smile. Look at each other. See people. Really see them. And don’t give up when they are struggling. Keep showing up. You may be the thing keeping them going.

And this one… it looks different than the others because despite my best efforts, it grows at an angle. It bothered me for a brief minute and I tried to correct it. Then I noticed the rich sticky sap on its stem. This is a happy plant. It doesn’t care about looking like the others. It had strong roots and is thriving. This one inspires me to be more like it. Even though it has no flowers right now, it makes me smile every day. Put your best self out into the world and that may be enough to bring joy to someone who needs it.

If you look closely here you will see that there are two plants in this pot. One has long since finished blooming, it looked nothing like the other. One is holding onto its purple flowers for quite some time. Two totally different plants in exactly the same pot. Two different potting mediums shoved together, and yet both are thriving. They figured out a way to do more than coexist. They figured out a way that, despite their differences they could both have what they need. Imagine if we took more time to care for those close to us, with different needs, instead of choking them out because we need the pot all for ourselves?

One plant – two spikes. From the same root they grew on their own, yet they’re able to have their independent spikes without hurting each other. So much we can learn.

This one has the longest spike. I have no idea what its flowers will look like, but I will be there to celebrate alongside it when it is finished with its climb.

Once a week, usually on a Sunday morning while I listen to www.churchunleashedtv.com I bring them all from the front window into the kitchen. Most are watered just by soaking them. (I use mostly bark as a potting medium.) When they are soaking I often stop to listen and I can hear them, happily absorbing the water into their roots. I hear them, and I am grateful for the ability to care for them. I am grateful for the reminder to listen. Really listen, so that I can truly hear.

And I peak down at this little guy that has been through a lot. I am not sure what its future holds, but know that both of us have tried out best. And watching its little roots nourished by the water gives my soul some peace.

Any orchid die hards would probably wince at the state of some of these plants. But, I have learned that they are perfect just the way they are and I have worked to meet them where they are, and accept them where they are. Whenever I can, I give them what they need to thrive or to just survive. They are perfectly imperfect, and immersed in the grace so freely given to me. Most days it’s hard to tell who needs who. I’ve grown quite attached to these little life lessons, delivered in the form of beautiful flowers.

I’m getting older. I am tried. I am less social. I am sad a great deal. I do not know how to fix the unsettled feelings in my heart.

My body is beat up from 5 decades of PTEN life. My heart hurts from the 2 decades my daughter has endured. This life is hard. People tire of hearing that but it is hard. It is with you 24/7 and it Iiterally lives in every cell of your body.

The cycle of surgery, recovery, scan, is endless.

Most days I try my best to focus on something that keeps peace in my soul.

Some days that is harder than others. But, every day we remain…

#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

Red Flags and Butterflies

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It’s really a dizzying vacillation between the two. So much time is spent at the red flag, laser focused, all hands on deck stage, that when there is a pause to give some time to breathe, and maybe look for the butterflies, I am the most lost. Sometimes the pause is hours, sometimes days. Occasionally it is weeks to months but rarely longer. And just about the time I start to notice the butterflies, we are tripping over red flags again.

This is life with Cowden Syndrome. This is probably life with many chronic and/ or rare diseases.

Meghan went back to college 8 days ago. She is adjusting, despite some need to still heal physically, and emotionally, she is pressing on as she always does, now mere weeks from her Bachelor’s Degree and the start of her Physician Assistant program.

We talk every day. And I love that. It doesn’t matter who calls who, or who texts who. It just feels natural to be in contact. I am here to listen when her anxiety is high, and when she is celebrating her successes. And she does a lot of the same for me.

We are interconnected in a way many can’t (or won’t try to) understand, at this time in life where we are both hoping to find and establish ourselves in the next phases of our lives. I am a few years out from retirement and she is ready to prepare for career of promise as a Physician Assistant.

I laugh with her on the good days, and I cry with her on the not so good days.

Many years ago when she was months old and slept poorly, our pediatrician once told me I should leave her to “cry it out.” I fired him. For us, this is the better way.

Anxiety is my biggest burden to carry these days. I try to tame it, but I often fail. I label it. I call it out for the useless freeloader that it is, but it is not ready to leave me. Not yet. I think that comes along with this rare disease thing too.

Fight or flight. Lather. Rinse. Repeat.

If I do not stay diligent we miss something. If I do not listen to my daughter, we miss something. If I do not stay up on the screenings we miss something. If I do not stay attentive to my own PTEN body as it ages, I miss something. Anxiety is my constant companion these days.

I cry. I laugh. I scream and yell. I feel all the feelings. And there are SO MANY.

I think that is how I survive, and how I remain helpful. I don’t think I have the luxury of keeping my head in the sand or ignoring the realities. We have a lot of work to do to stay at least reasonably healthy.

Being a PTEN patient can feel scary. This world can feel even scarier.

One day I will figure out what I will do with my the time in between the red flags. As I get to spend more time with the butterflies, I will figure it out… and I am looking forward to it.

Today though, I will check in on my college girl one more time, forever grateful for her strength and fortitude. I will pray for peace, and guidance for how best to live as a patient, as an advocate, and as a Christian in this crazy world.

Paying attention is exhausting, then again, so is…

...beatingcowdens

Today Was a Difficult Day

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

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

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

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

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

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

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

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

Except it didn’t.

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

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

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

You. Have. To. Wait.

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

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

No one spoke about this waiting place.

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

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

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

The next post-op is in three weeks.

Today was a difficult day indeed.

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

#beatingcowdens

“I Support The Girls”

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

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

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

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

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

#beatingcowdens

The Glider- from Birth to Bilateral Mastectomies

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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

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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 5th 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 22nd 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 3rd. 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 31st. 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