Tag: Family

PTEN Patient Symposium 2026: A Community Connection

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I had the exciting experience of attending the 2026 PTEN Patient Symposium yesterday at CHOP. Sometimes, 15 years after diagnosis, you can get in a rut, thinking you know everything you can know.

Instead I am learning in the rare disease world, longevity of diagnosis can be your enemy, and it can make you complacent or accepting of what already is without seeking more!

The biggest reality check I had yesterday is that NONE OF US knows everything, because what is relevant is changing constantly.

The mind blowing revelation that I was already a college graduate in 1996 when the PTEN gene was connected to Cowden Syndrome gave me a great deal of perspective.

Getting to meet people I only “know” on line was amazing.

I came away with a long ‘to do’ list and a pressing need to recategorize all of our medical files in ways that are easily accessible without relying on a digital chart or a doctor to keep them for me.

I have already found answers to questions in Meghan’s reports from 2004!

Those of you who normally follow because you are kind, and looking to stay connected to us, this is likely to bore you very quickly.

Those of you who are PHTS patients or parents, I hope my rundown of the day helps you! It is definitely slanted towards the things that drew me in for Meghan and I, but I included many screen shots of the slides!

We are indeed “Stronger Together!”

PTEN Patient Symposium

September 4, 2026

CHOP

9:00 Kristin Anthony PTEN Foundation
Kristin welcomed us and gave a heartfelt thank you to all attendees. She also told us that the PTEN Foundation will be posting an opportunity for a Scientific Director role. The position will be located in the Southeast and it will help the foundation move forward! Exciting times!!

9:10 Dr. McFarland (CHOP) 

Pediatric PTEN Manifestations and Management

*Almost half of all patients when scanned will have a finding that does not require intervention, but causes unnecessary anxiety. They only scan the brain if a patient is symptomatic.

Hypogammaglobulinemia of Infancy was Meghan’s diagnosis at about the age of 2. ( PTEN diagnosis did not come to us until she was 8, so we ware learning many things in hindsight!) In addition to that, her IgG subclasses were often low as a child. Her Pediatrician/ Infectious Disease doctor treated liberally with antibiotics which were often needed to come through “simple” infections. Immunizations were paused and later completed at the age of 16 when immune function was considerably improved. That was an area of disagreement among the MANY specialists we saw. We are in no way opposed to vaccinations!

Meghan’s tonsils and adenoids were removed at 4, after repeated bouts of chronic strep. Although the pathology was “chronic tonsillitis and reactive lymphoid hyperplasia,” a relatively common finding, the doctor told us they were “the most diseased tonsils I’ve ever seen.”

I am told that I suffered from chronic infections as a child and was hospitalized for pneumonia. I was often sick and frequentlyneeded antibiotic treatment as well. As an adult I get sick only 2-3 times a year, but still typically require antibiotics for even “simple” infections.

My own GI “issues” consisted of me somewhat regularly vomiting as a child, and finding myself in very embarrassing situations. I realized early to stick to a basic and somewhat bland diet. I avoid high fat foods, as they make me uncomfortable, and treat constipation with additional fiber. Most recent colonoscopy in 2022 was uneventful. I will have my next one in 2027 and remain diligent as “90% of PTEN patients over 35 have GI polyps” and the elevated colon cancer risk is not to be ignored.

Meghan’s GI issues have been present and at the forefront since her birth. She was colicky. She tolerated only a very specific formula, and even that was a struggle. She spent a good deal of childhood on PPIs and various acid reducing medicines. A cursory search of our medical files finds at least 4 endoscopies and one colonoscopy. All were essentially inconclusive and polyps were minimal and benign.

Meghan’s gall bladder was removed in 2007 after a diagnosis of ‘milk of calcium’ and significant pain.

Her diet through the majority of development was gluten, dairy and soy free for GI comfort. Early on corn and egg were also problematic. Allergy testing only showed a mild positive (level 1) for dairy, and GI biopsies at 13 months were negative for celiac. 

Reflux remains an issue to this day, as does constipation. Eating is sometimes a struggle as certain foods/ textures seem to cause esophageal spasms making eating impossible at points even though the desire exists. 

9:30 Lamis Yehia, PhD Cleveland Clinic

Cancer in PTEN Hamartoma Tumor Syndrome

As someone who was born in 1973, hearing that Cowden syndrome was only first labeled in 1986, and that the corresponding PTEN gene mutations linked to Cowden syndrome were not characterized until 1996 can be mind-blowing. I was out of college and working as a substitute teacher in 1996. Literally all of the meaningful work on this syndrome has taken place during my teaching career!

I also noted a quote from this presenter, “There’s nothing (PTEN) cannot do.” Indeed!

A lot of this presentation was technical and statistics that are better seen on the presenter’s slides.

The slide below shows cancer risks for the six ‘component’ cancers in PHTS, both in a graph and by body part. On the human model, the black numbers indicate the general population. The red numbers are from a study published in 2012, and the purple numbers are the updated percentages of those with PHTS. The age related penetrance is 80 years.

There was discussion on ‘non component’ cancers, and they are listed on the slide below. Attention should be paid to the small sample sizes, a hazard of working in a rare disease population. We were assured they are working on studying modifiers.

10:00 Dr. Chad Michener, Cleveland Clinic

Gynecologic Cancer Risk in PHTS

As a breast cancer survivor, a PHTS patient who had a full hysterectomy weeks after my double mastectomy and a mother of a PHTS patient who is post double mastectomy and who has already had more than her share of trouble with her uterus, this one had my attention. Meghan has also been on a continuous (no placebo) birth control pill since 2017. At the time an adolescent gynecologist suggested it after her first biopsy. I know she is not alone with what were utterly miserable, and in my opinion, beyond humane, periods.

I was reminded of the information on a previous slide, that while the risk of endometrial cancer used to be listed as 28% in the PHTS population, it is now at approximately 48% for those of us with pathogenic PTEN variants.

That was definitely tough to swallow.

I also learned my daughter’s gynecologist is on top of things as there is a low threshold to biopsy when there is suspicion of malignancy. “Just do it.” 

I will insert the slides I clipped below.

10:30 Dr. Andrew Dhawan, Cleveland Clinic
Neurologic Manifestations in PTEN Syndromes and Care Guidelines

Meghan and I both suffer with chronic migraines. We also both struggle to fall asleep, although her sleep issues are notably more severe.

We both have dysautonomia with slightly different presentation and to varying degrees. I remember this being something Dr. Eng had begun to talk about before her passing, and I am grateful for those who are still working on the connections.

We both feel as though everything we do takes longer than it should- including my work compiling my notes here from yesterday!

And I felt in in my SOUL when he said that PHTS patients are ‘clumsy!’ I felt SEEN! LOL!!

It was reinforced how important patient participation is in research, registries and the like so that appropriately sized and differentiated samples can help lead to even better guidelines.

11:15- 12:00 Lunch and Q and A with CHOP genetics team

12:00 Dr. Siddharth Srivastava (virtual) Boston Children’s

PTEN Neurologic Research

My apologies because I do not have any slides to share. The virtual presentation created some projection challenges.

The doctor spoke about upcoming research opportunities.

12:30 Mrs. Kelly Steel 

PTEN Parent and Advocate Experience

This was a super neat presentation for me because I met in person a family I have been following for years.

Kelly and her husband are parents to the amazing Daphne, a 13 year old PHTS patient with a history that reads like a medical text book. (Well, who are we kidding, you’d never find kids like ours in a textbook!)

She shared some of their journey, and while hers and ours are not the same in content, it was something special to hear from her. 

If you are a parent of a medically complex child, there is nothing like looking, standing near, or being in the same room with others. There is so much unspoken understanding, and I was grateful for their family’s openness.

Daphne’s PTEN Diary

12:45 Dr. Joan Tamburro, Cleveland Clinic

Dermatologic Manifestations of PTEN and Care Guidelines 

This was an overview of guidelines for skincare. I did not take a large number of photos during this presentation. The first set of photos are common skin findings in PHTS.


The next included Sun protection guidelines.

I learned that GRASE stands for ‘Generally Regarded as Safe and Effective.’

1:00 Dr. Whitney Eng – Seattle Children’s Hospital 

PTEN Vascular Anomalies

Dr. Eng had my attention from the start for a few reasons. Meghan and I have a heavily vascular presentation of PHTS, and in Meghan’s world, 12 of her surgeries have been on her right leg, due to vascular anomalies.

Also, the teacher in me thought the slides were super engaging and I loved the analogies she used.

I connected a few things in my own life through her presentation as well!

Before the presentation, I only knew of Meghan’s AVM in her knee and the beast of a PHOST tumor that tortured her for years. During the presentation, I came to realize the ‘varicose veins’ I have been battling since my 20s are more than likely connected to my PHTS.

Where that leads remains to be seen, but it was helpful to know it wasn’t that I had DONE something wrong per se. I have simply been seeing doctors who cannot/ or choose not to connect the web of symptoms I have.

I was also unaware that the tumors on my spleen, first discovered during my intake screening in 2012, and frequently classed as “lymphangiomas” by radiology, are, in fact vascular anomalies as well.

The biology of it takes a lot of work for me to understand, but with persistence and patience I am learning.

Our vascular journeys are far from over – but the knowledge gained is priceless.

1:30 Ying Ni, PhD Cleveland Clinic

Prevalence and Spectrum of PTEN Germline Variants

If I’m being honest, I was a bit checked out of this one. My brain was spinning after listening to Dr. Eng. 

I also think she was so super smart that a lot of the content was above me!

I did write in my notes that we are seeing younger average age of first cancer diagnosis in PHTS patients. It is now 46 down from 59.

I also noted that she said PTEN mutations may be a bit more common than we think/ know.

2:00 Ms. Jana Heady MS, CGC- UT Southwestern 

UT Southwestern PTEN Program

I did not do much better with this presentation. I think it is harder for me to drill down into the genetic part of PHTS now that we are 15 years post diagnoses.

I did learn something about germline mosaicism that I never fully understood. But, it will only play into unproven theories of our disease origin in my own family. 

2:30 Dr. Denise Adams- CHOP

PTEN Vascular Anomalies Research

Again, because vascular anomalies are so personal to Meghan and I, I was more dialed in here. I have enough slides to share the gist of the presentation.

This slide got my attention because I recognized a few drugs, including propranolol, recently prescribed to me to potentially assist in my migraine management.

That slide makes my head hurt but I kept it because some of your understanding far surpasses my own. I was excited I knew SOME if the terms!

Dr. Adams was speaking of two studies, but proceed with caution because I do not have a full set of slides on either one.

I believe these are for the ‘CAPIVA’ study.



The other one is a research base retrospective of 100 PHTS patients with vascular anomalies.


This girl is the BEST!

Every year prior to this one, I wished I had been at the in person Symposium. I always wished I could have seen and heard the presentations. I hope this helped some of you who were unable to attend.

I wholeheartedly recommend attending in person when you are able and I am grateful that this year I was able to.

And now, I feel like Ella! So goodnight all.

I am grateful to be

#beatingcowdens

alongside all of you!

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

Published on by beatingcowdensLeave a comment

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

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

Narcan?!?!?!

Published on by beatingcowdens3 Comments

We got home from the hospital late Friday of last week. After 5 days and 4 nights-her longest hospital stay since she was a toddler, we trekked from Long Island to Staten Island, a 35-mile journey that even at a carefully selected 8PM still took us 90 minutes.

I’m certain we were navigated through every single pothole on the traffic-filled trip. I dodged every self-absorbed speeding lunatic while doing my best to keep from jostling the car too much. I teetered between fervent prayer and fierce anger that I took out in a few temper tantrums at my steering wheel. My knuckles were white (and a little bruised) when we finally arrived home.

While we got her washed off, and I took the most necessary shower of my life, I let a few things sink in.

The week began to replay in my mind and I started to grasp the gravity of what we were in the middle of.

Somewhere between The Waiting Place and Agony I left out that incident in the recovery room. The one after she woke up screaming, they gave her some IV pain medication and something happened. Her monitors are never comforting, as something is always beeping, but I instinctively got Ella out of the way as I watched her oxygen saturation start to dive and hit the 70s. Four of the most authoritative badass women I’ve ever seen moved in a way that assured me they had done this before. They had the oxygen out and there was water and something about making it moist. To be honest I don’t care enough to even look it up. All I know is within seconds of them arriving things went back in the right direction. She slept for another few hours in an oxygen mask and I stared at that monitor like it was my job. That entire incident could not have been more than 30 seconds – but I can tell you everything about that tiny area in the post-op unit. I can feel myself standing there… watching… terrified.

It wasn’t the first scary thing that happened.

The amount of narcotics it took to keep the pain at bay was flat-out disturbing. That, combined with a baseline of POTS which keeps her blood pressure often low and her heart rate often high, caused chaos every single time someone came in to take her vitals. My notes have her 6/5 early AM pressures at 68/37, 74/41… her high that day came in at 91/57. This meant that every single time someone came in, the patient care aide would take the pressure twice. Then they would look very concerned. And when her pulse ox showed at a very unimpressive 94-96 they would get the nurse. The nurse would then take her pressure and page the doctor/ and or the pain management team. Ultimately they would wake her, shake their heads, and repeat the same cycle. Every 4 hours. For days.

There is no solid reason yet as to why her pressures were so low. Like so many other things in Meghan’s life, eventually, people just shrug their shoulders.

That hospital room, with the hum of machines alternating with wails of pain, it was a lot. And I was happy to wash some of it off in that shower.

It is good I can recover quickly after a shower because I am glad I was awake when I set up to review the 7 medications we left the hospital with. It was at that moment I processed why the nurse had asked me if I knew how to use Narcan. I had answered her so matter of factly, she must’ve thought I knew more than what I had seen on a random television show, and she was comfortable when I said “one spray up each nostril.” I guess I was in a haze. I remember asking if it could hurt her, and she said, when in doubt give it. Like the EpiPen training we get annually at my elementary school I had thought, trying to normalize the fact that I was about to drive 90 minutes with my child so drugged up that I was now carrying medicine in case of an overdose.

I laid everything out by my computer and did what I always do when I’m nervous… I organized it into a table. This was likely the most important table of my life. I felt alarmingly unqualified and flat-out terrified.

It didn’t stay nearly this neat as I planned out how to alternate prescription acetaminophen with ibuprofen while separating hydromorphone (every 4 hours) with diazepam (every 6 hours) by at least an hour because both can lower her already low blood pressure. That’s where the Narcan came in. The methocarbamol was for breakthrough muscle spasms but no more than every 12 hours. The Zofran… well because narcotics and nausea…

The first few nights there was something at least every 2 hours. I got into an every 3 hour routine soon after but it definitely was the worst math word problem I have ever solved.

Every simple task was a hurdle. Walking on the crutches when she was so drugged up was flat-out dangerous. Laying on her back with a 3-inch incision on the back of her thigh was virtually impossible. Sitting was not an option as the hip is not allowed to go to a 90-degree angle. The brace created to help with the hip was a poorly designed disaster. But, in fairness, this tumor was rather uncommon.

These last two weeks have left me speechless more times than I care to count.

The day after we got home when I went through the mail, the formal denial of any post-operative stay arrived at my house. Years of experience with this caused me to barely flinch. I three-hole punched and filed it. Today in the mail came this notice, the one they sent after reviewing her POST operative file. If you have any history with hospitals you know this speaks VOLUMES…

Sometimes in the night when she is asleep next to me in the bed, I just stare in awe of all she has endured and continues to endure. I pray for guidance to keep her heart soft and her will strong. I talk to every single angel we have and beg them for signs they are watching.

And then, when I still can’t sleep I remember that her story, this crazy, often flat-out unfair and unreal story will somewhere in her future serve her as she brings her whole life of experiences with her into her own professional life as a physician assistant.

There is increasing time between the terrifying spasms. That’s what I’ve got for today. That and some photos of a really cute Ella who kicked some major butt for 5 days and 4 nights… yeppp she stayed with us!

#beatingcowdens…

What will your verse be?

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“…That the powerful play goes on and you might contribute a verse.”

-Walt Whitman (O Me! O Life!)

“What will your verse be?”- Robin Williams (Dead Poet’s Society)

I couldn’t sleep last night. This echoed in my ear over and over again. Dead Poet’s Society has long and forever been my favorite movie, and Robin Williams my all time favorite actor.  But, I must admit neither often keeps me awake unless things are on my mind.

My father-in-law passed away last week.  His funeral was Saturday.  Parkinson’s was ruthless and took its time ravaging his body.  Yet, through the end his spirit never wavered.  During more than one conversation we had over the past few months, he would often say, “God in the front.”  He would tell it to me in English, and in Spanish, but I won’t pretend to be able to even type the Spanish version.   The conversation often led back to the same sentiment.  “Everything went wrong when we stopped putting God in the front.”  He meant in life.  In the world.  In the chaos.  In the anger and the hatred so often around us.  To him it was simple.  It was powerful to hear him explain it.

I realize not everyone shares my faith, and I am ok with that.  What I do wish for everyone is a belief in something that can help you maintain your poise and grace through indescribable agony or just generally difficult times.  Because none of us know what our future holds.  But, as Walt Whitman said, even after we have left this earth, “…the powerful play goes on, and you might contribute a verse.”

What is my father-in-law’s verse?  To me it is everything.  My husband.  My daughter.  Their light.  Their souls.  Their spirits.  Their hearts.  He contributed to this world two of the most spectacular humans.  The powerful play goes on.  He rests now.  But his verse, it has ripple effects.

A very young grandchild of a family friend had a very near miss on a life and death experience this week.  He is recovering.  I spent many hours talking to God about what his verse could be, and how much he could still do here on this earth.  Heaven had enough angels.  It was not the first miracle I have witnessed.

A photo taken by my Dad of a much loved statue. He is forever now one of our guardian angels.

What will your verse be?

I’ve reached a point in my life, where I will not give people the power to affect me negatively.  My older sister has given me this advice countless times, but it is finally starting to register.

Meghan and I have talked a lot about the Nature vs. Nurture debate these last few weeks.  We’ve played what if games with a ton of scenarios.  The thing about this debate is the only truth is, it’s both. Nature and nurture impact who we become.  Sometimes one is more powerful than the other, by no fault or credit of anyone.  But, it’s undeniable that they cross over.  All the time.

Bad things happen.  We can’t always choose those things.

Relationships with both family and friends sometimes sour.  We can’t always fix it.

Health sometimes fails by no fault of our own.

Sometimes there’s a global pandemic, and everything gets turned on its ear.

We often can’t choose what happens to us.

What we can choose is our response to those things.

And often, it is the response you choose that can lead you to peace in the darkest hours.

Life is not easy.  I am not telling you I’m never mad, or sad, or flat out angry.  I’m human.

But, lately I’ve been choosing to spend less and less time in the dark places.  And while I recognize getting to the point where you can make that choice is in and of itself a battle for some, I know that everyone moves at their own pace.  For me I’m at a place where I’m choosing the light.  I’m choosing not to give people power over my happiness.  I’m choosing to put “God in the front.”

I am 4 weeks post op from a major foot surgery, and still non weight bearing.  The other day I went out on my crutches determined to drop a package at the post office and put gas in my car.  Three separate people stopped to offer me help at the post office, and a kind old gentleman insisted on pumping my gas.  I saw so much good.

I choose to think its always there, but it stuck out so much more because I am prepared to seek it.

What will MY verse be?

I’ve been thinking about that a lot.  The truth is, I don’t know.  But, I do know I want to start forming it now.

Having a rare disease, and also just having open eyes and ears has grounded me in the reality that there is no promise of tomorrow on this earth.

What will MY verse be?

I’m not sure yet. But, I’m working on it.  One day at a time.

#beatingcowdens

Pandemic Got Your Tongue?

Published on by beatingcowdens2 Comments

NYC #COVID19

NYC #Covid19

There are things you could do without ever experiencing.  Clearly #COVID19 is one of them.

I live in NYC.  I have lived here every one of my 46 years.

I was born and raised here.  I graduated from public school, SUNY and then CUNY.  I work in the elementary school I graduated from.  I have lived in the same zip code pretty much my whole life.

I watched my local community rise up many years ago when my young cousin battled Leukemia.  I remember that, even over 30 years later, whenever a neighbor I don’t know is in need.

I watched my local community, many aspects of which were decimated by the horrors of 9/11, rise up in indescribable ways.

I watched my community draw together again after Hurricane Sandy wiped out neighborhoods.

We worked together.  We prayed together.  We loved on each other.  We gathered together.  We shared what we had.

I live amongst compassion, bravery, dedication, resilience, tragedy, and grief.

I also live amongst some selfishness, stupidity and inflated senses of self importance.

The greatest city in the world gives you all that and then some.

Despite having a small social circle, I am a mother, a wife, a daughter, a granddaughter, a sister, a niece, a cousin and a friend.

I am a patient with a PTEN mutation called Cowden’s Syndrome.

I am a cancer survivor.

I have a teenager with 2 rare diseases, and a brain that runs 24/7.

We are immune compromised.

I am a NYC Public School Teacher.

My husband is an essential worker.

Daily the news reports are often silenced in my house.  I know what’s going on around me.  A few numbers across a screen give me what I already know.  Hope of blossoming spring has been muted by tales that nightmares are made of.

I spend the days trying to remotely engage young minds in math games.  It is, if nothing else, a welcome distraction.

Suddenly, this community that does so much better when we can gather together is isolated.

Our friends are sick and dying quickly.  To much of the country and the world they are numbers.  To us they are humans with names and families.  We can not visit.  We can not comfort.  We can not gather.  We are leaving our loved ones at the emergency room door, praying we will see them again.

We, alongside the whole world, are fighting a virus that seems to have a strangle hold on my home town.

People like to make themselves feel better, but the truth is this virus does not discriminate.  We can barely even find it, let alone attack it.

We are chasing it.  It clearly has the upper hand.

We have been told to #flattenthecurve but, I fear the sheer numbers of us make this so much harder.

My husband comes from work removes all layers, scrubs, showers, washes all outer garments.  He gave up public transportation to reduce his “touch points.”

We are grateful for the home we have.  We are grateful for each other, for the internet, for Zoom and FaceTime, and virtual church.  We are grateful for washing machines and space, and luxuries never to be taken for granted again.

We are grateful for computers that allow for everything from Advanced Biology to voice lessons and test prep.

We leave for 2 walks a day at off peak hours.

The stores I used to walk in and out of because I could, are saved for when lists accumulate and there is need.

We order food a few times a week, a calculated risk carefully played out because the restaurants that have openly supported our fundraisers through the years, deserve our support now as well.

The schedule has slowed from its chaotic pace.  Swim season just isn’t.  There is no college search right now.  Doctors are cancelling, and rescheduling.  Routine check ups are on hold.  And honestly I don’t mind.  Even this chronically painful foot is waiting its turn while really important things happen at the local hospitals.

We take this call to social isolation really seriously here.

Selfishly, I might even enjoy a little of this forced family time.  A year from now my girl will likely have her college chosen and be starting her transition out of our nest.

Having Cowden’s Syndrome has done a lot of work on my perspective through the years.  I’ve learned that you can’t keep waiting for it to be over.  That’s true of everything in life.

A dear friend has told me often, “You can have it all, just not all at the same time.”

You have to live each day, from beautiful to unspeakable.  It is the only way to preserve feelings of compassion, empathy and focus on the greater good.  You must laugh and cry, and scream and yell, and feel all the feelings.

I have scanned 3 and a half years of letters Pop wrote to Grandma in the years he was deployed during WWII.  Those years preceded a marriage that lasted over 70 years.  I think of them all the time, but even extra these days.  I think about how hard it would have been to socially distance from them, but also about the lessons they could have taught all of us in patience, resilience and sacrifice for the greater good.

I’ll use some of the next days to read every one of those letters before uploading them to create a hard copy to be shared in my family for generations.

There is a lot to be learned from the “Greatest Generation.”

Sometimes I get angry at flippant or arrogant folks I see, in person or on the news.  The people who think they are too good, or exempt from this global pandemic.  The people who don’t think they have to do their part.

Then, I decide to focus on the overwhelming number of people who are doing whatever they can to make this better.  All those essential workers we learned about in the first grade unit on “Community Helpers” are the ones I focus on with gratitude.

I am not better than this virus.  I am just as susceptible as the good people across the globe who are struggling with these infections.

I isolate not out of fear, but out of respect.

I isolate out of respect for those who can’t.

I isolate out of respect for our first responders and essential workers.

I isolate out of respect for those who are living with this virus.

I isolate because maybe one less person will get infected because I did.

I miss the way our city has come together in all other times of tragedy.

I miss hugs, and offering comfort and being comforted.

I will message the people I miss so much, and check in on them.

And, instead of complaining the time away I will spend more of it in prayer for those who need very much not to feel alone, reaching out through the technology I’m blessed to have, with gratitude that if I am forced to isolate I have a comfortable home and a few of my best friends to be with.

Jax is a welcome distraction.

Sweet April

#Family

#Flattenthecurve

#COVID19

Still #Beatingcowdens

 

 

 

Six Wheels and a Boot

Published on by beatingcowdens4 Comments

At any given point during our 10 days in Disney, our party of three also had six wheels and a boot.

We must have looked unusual to anyone who passed us by.

I traveled with a virtual pharmacy in my purse, which is really simply a string bag on my back, because who really wants to be fancy anyway?

The week before we left we had a PILE of appointments.  I think I lost count at 17 in the 5 days.  One of them was the orthopedist Meghan sees a few times a year.  He was catching up on the new diagnosis of Ehler’s-Danlos Syndrome, paying careful attention to her knee, which by all accounts has been her ‘Achilles heel’ her whole life.   There had been pain in that knee for weeks prior, which is always a concern.  One of the surgeries she has had repeatedly has been to correct the tracking of the patella.  Anxiety is warranted.

This doctor suggested an MRI to confirm the knee was tracking correctly.  He also said that she was ‘not to walk consecutive distances longer than one block’ at least until the pain in the knee settled.  He prescribed a painkiller and a muscle relaxant.  He told me she was not to walk the parks in Disney. She needed to spend most of the day confined to a wheelchair.  And while there is gratitude for the temporary nature of this situation, there is a mental and emotional adjustment to enduring it.

This was not a totally new arrangement for us, as the knee has limited her walking in the past.  However, there is always the hope that with age things will change.  And while Meghan is healthier and stronger than I have ever seen her, the realities of Ehler’s-Danlos and its wear and tear on the connective tissue are real and very present.  So, out came the wheelchair.

And, one of my appointments was an MRI follow up for the foot that has been a disaster since I fell at work January 8th.

The initial fall partially tore the lisfranc ligament.  Which might have been easier to recover from, except ligaments don’t show on xray.  So the initial diagnosis was a sprain.  Which was treated with 5 days rest.  Then 2 weeks later when the pain was more than it should have been and my primary asked for an MRI, GHI decided I didn’t need one yet and I could wait 6 more weeks.  So, I forced the foot into a shoe for a total of 8 weeks post injury before I couldn’t stand it anymore.  At that point an MRI finally picked up the partial tear.

I was booted for about 6 weeks.  I was pulled out of work and off my foot, but largely too little too late.  I returned and handled the foot conservatively, waiting to feel better.  Or at least closer to being able to walk like I did on January 7th.

Every other week there have been check ups at the podiatrist.  Two visits to a specialist in NYC. Days blended into weeks and my patience started to wear thin.  I began Physical Therapy, but even the PT was baffled by the amount of pain in the foot and encouraged me to keep looking for answers.

A repeat MRI was scheduled for 8/2.  I obtained the results on 8/14.  While the pain in the foot should have been an indicator, I was not prepared to hear that I needed to return to the walking boot, as I had a likely stress fracture in the cuboid bone, and a neuroma in between my second and third toes.   This mess courtesy of my body compensating to protect the lisfranc ligament while it healed.  I had unconsciously shifted all my weight to the outer part of my foot.  I was to limit my walking.  By that night I was back in my walking boot ordering a knee scooter for the trip to Disney.

I remember after the fall in January, and even after the diagnosis in March, feeling so happy that I would at least be healed and back to walking before our trip.  The best laid plans…

So when we headed out for a 5AM flight on 8/18, we had all our suitcases, a wheelchair and a knee scooter.  We checked three bags, and Felix pushed Meghan while I scooted behind.  We were a sight.

And after waking up at 2:30 for our flight and traveling via scooter through the Magic Kingdom, I wanted nothing more than to go home.  Immediately.  I felt like I had done a bad step aerobics video over and over on only my left thigh and butt cheek.  You might not realize the strain on the thigh when you rest the knee with a way-too-heavy boot hanging off the back.  There was just no way I was going to make it.

So Monday morning I released Meghan and Felix to the Magic Kingdom.  I sat in the hotel room.  I cried for about 10 minutes.  I called my mom. I made a cup of tea.  And then I made a plan.

I researched a new set of eyes to consult on the foot when I arrived home.  I rearranged our return flight to a more civil time to I could book an appointment for the 29th with confidence.  I stretched.  I took way too much Advil.

And sometime that morning between the NSAIDs and the caffeine, I started to feel the magic.  I sat on the hotel balcony.  I strengthened my resolve.

I am not sure at all why it seems everything is so hard.  I couldn’t fathom why I had sent my otherwise healthy kid off in a wheelchair, while I sweated inside a walking boot,  all the while healing from the Fine Needle Aspiration thyroid biopsy two days prior for thyroid nodules recurring on my previously quiet and well-behaved remaining thyroid lobe. (Partial thyroidectomy 1993 – dx multinodular goiter, 18 years before I had ever HEARD of Cowden’s Syndrome)

In that moment most of what we were facing had nothing at all to do with Cowden’s.  And yet, the same choice existed in that moment.  I had to decide that I was going to make the best of it.  I had to decide that I was not giving up my family vacation for more medical nonsense.  I had to decide to find a way to enjoy.  Because the struggles, the pain, and the drama would all be waiting for me at home whether I found the “magic” or not.

All the positive thinking in the world was not going to make anyone’s pain go away.  Not even a stomach burning amount of Advil and a few strong cocktails could do that.  But, I am a huge believer in a positive mindset.  And in that Monday morning overlooking the Hawaii themed resort, things started to fall into place in my mind and my heart.

We get 2 weeks a year to spend as a family, free of other obligations.  We get 2 weeks a year.  And I wasn’t going to waste it.

I joined them later that day, and never left them again.  We traveled together – a family of three, six wheels and a boot.  We laughed a lot, we argued a little, and generally found the best in each other.  We met up with my sister and her family for a super fun night together. 

We got to Mickey’s ‘Not So Scary’ Halloween Party for the first time.  We saw more characters than we’ve seen since she was quite young.

Finally, after many years of staring at the giant “Hot Air Balloon” in Disney Springs, I got myself on.  Because, Why not?  Magical.

 

We found that our resort had a stand serving dairy free Dole Whip – the first time my 16 year old ever had soft serve.  Magical.

 

Some people wonder how we do the same vacation year after year.  They wonder how we don’t tire of it all.  For us, there is a magic that can’t be explained, only felt.  There is wonder in eating safely in restaurants and having access to a bakery free of gluten, dairy and soy.  There is joy in eliminating something so basic as food isolation, and sharing meals, sometimes as a family of three, and other times with some Disney friends.

Even Donald was checking on my boot!

There is magic running into Pluto in the lobby of your resort, or finding the Seven Dwarfs waiting to meet your family.

There is magic in roller coaster selfies, and Figment reminding us to use our imagination.

There is magic in all things familiar, and always finding something new.

There is magic when you seek it, even with six wheels and a boot.

Because there will always be battles to fight.  So sometimes they can just wait 2 weeks.

The foot problem is not solved.  It’s time to find some serious answers.  I won’t open the school year for the first time in 22 years.  These next few weeks will be about making plans to heal.

There is no magical solution for my foot.  There will be more MRIs, and more doctors.

My patience will be tested in new ways.  I am not sure what to expect, and that makes me nervous.

But there will never be a single second that I regret adding 4 wheels and a boot to my own self to enjoy and appreciate the magic with my family.

I know the body can not heal if you don’t nourish the soul.

#beatingcowdens

 

 

Rare -ER? More Rare? Where to Begin?

Published on by beatingcowdens6 Comments
A new diagnosis came our way this week.  On top of the existing one.  I have wavered between frustration and relief.  I have felt some questions answered and developed a lot of new ones.  My girl got her words together before I did…
*********************************************************************
My name is Meghan. I am a 15 year old high school student. I just finished my second year of high school in a place I love. I am an A+ student, who loves to learn. I am in all honors classes. I strive to learn and grow as much as I am able. I live, laugh and love. I hang out with my friends. I lay outside and tan. I take my dog for walks. I swim for a competitive travel team where I work my butt off in the water 6/7 days in a week. I improve. I grow. I train. To anyone who only knew me superficially, it’d seem like I was living the dream. I’ve got a couple close friends, good parents, a nice house, a dog who loves me. It’s perfect. Right? Wrong.

Here’s the other side of my life most people don’t know; I’ve got some shitty genetic luck. Because on the inside, I am far from an ordinary high school student with the perfect house and parents.
I was diagnosed with my first- yes that’s right, my first- rare genetic disorder when I was eight years old. By then I’d already had so many surgeries it was hard to keep count, and a bunch of random medical problems that never seemed to add up. That disorder is Cowden’s Syndrome. It’s a mutation on the PTEN gene that causes benign and malignant tumors, increasing cancer risks and letting things pop up all over my body that hurt like a mother.
I’ve lived with this disorder my entire life. Hospitals, waiting rooms, specialists, MRI’s, and every other extremely uncomfortable medical situation you can think of became my life. To date, I’ve had 18 surgeries, multiple procedures, over 30 hospital visits, and 25+ MRI’s that have put wayyyy to much metal into my body. From countless medical traumas I’ve developed PTSD, anxiety, and depressive disorders. What doesn’t help that is the fact that I’m always in pain. I fight every damn day. I fight to live my life, and to get my body to the levels that others can reach with half the effort.
Now here’s the best part, so I’ve got a crazy smart mom, who wouldn’t stop poking around to figure out the other piece to this puzzle. Because, we both knew Cowden’s wasn’t it. There was something more, because this debilitating chronic pain in a relatively healthy 15 year old, plus other random symptoms that just didn’t add up, had to come from somewhere. So, we went back to my geneticist. And, guess what? We BOTH got our SECOND rare genetic diagnosis. hEDS( the hyper mobile sub type of Ehlers-Danlos Syndrome). Fun, right?
I know it’s a lot to write at once. It may seem crazy to anyone else who lays eyes on this post. But guess what? One very valuable life lesson I’ve learned from living this life is to stop giving so much of a damn what other people think.
Just live. ❤

Until inspiration strikes again!
(Or I’ve got some unusual free time 😉)
Meghan
*********************************************************

#beatingcowdens  AND #hEDS…  I guess some updating may be in order…

It’s This Day to Day Living…

Published on by beatingcowdens3 Comments


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Not a word. Ever.

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

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

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

I honestly felt like I had been hit.

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

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

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

Next came my oncologist.

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

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

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

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

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

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

That was Tuesday afternoon.

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

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

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

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

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

Life is a juggling act.

I have plans.

Doctors appointments get in the way.

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

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

I will.  One day.

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

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

Tick tock… the waiting continues…

And we remain forever

#beatingcowdens