Tag: Cowden syndrome

My Letter to the CEO of Disney

Published on by beatingcowdens1 Comment

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

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

#beatingcowdens

Mr. Robert Iger 

Chief Executive Officer

500 South Buena Vista Street

Burbank, CA 91521-4873

December 13, 2024

Dear Mr. Iger,

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

Meghan’s birth was tumultuous in the summer of 2003 and her health has remained an issue to date.  Before her 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

Just Let Me Know if I Can Do Anything….

Published on by beatingcowdens1 Comment

Spoiler alert…

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

My advice to you – SHOW UP.

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

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

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

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

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

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

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

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

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

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

Most of the time we feel lonely and isolated.

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

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

One day soon we will share more about it.

But for today I will leave this here…

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

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

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

In this age of disconnectedness… SHOW UP….

#beatingcowdens

No Rest for the Weary…

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

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

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

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

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

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

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

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

Literally it felt like 30 seconds in between.

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

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

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

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

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

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

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

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

As we push through these next days we remain quietly…

#beatingcowdens

Status Update…

Published on by beatingcowdens1 Comment

We met with the surgeon for Meghan’s follow-up visit yesterday. He was so pleased with her, and with how incredibly hard she is working to recover. He is amazing, her orthopedic surgeon. He is humble, skilled, and focused, yet he speaks directly to her, meeting her questions with sincerity and validating her in ways that are literally life-changing.

You can go ahead and read that again. Validating her in ways that are life-changing. I use words to express myself and to tell our story, but I had gone largely quiet for a long stretch. You run out of words to reiterate pain. You run out of ways to explain to people that she is not better. You end up in a place where you are essentially making apologies for the discomfort your situation causes other people. You find yourself hiding.

There had been medication trials, embolizations and cryoablations, and an angiogram to attack this tumor. There was some lessening of the pain, but no relief for any real time. The pain always came back with a vengeance.

She stepped away from one thing after another in her life. Who can socialize in pain like that? Walking was excruciating, and driving was a formidable task since even sitting was painful. The pain wrapped her up in a tight ball. It mangled her hopes and messed with her dreams. It left her physically ill and a shell of herself. She put every ounce she had into maintaining her grades and surviving. People, some patronizing and some incredibly well-meaning suggested everything from her “just being depressed” to her being dramatic, to her needing to just push more. I’m confident not a single one could have managed an hour in the body she was dealing with.

When we went to see this doctor in mid-May (he’s been in the rotation since about 2015 and has done a few of her knee surgeries so we are not strangers) I expected he’d prescribe Ibuprofen and send her on her way. Instead, he sat at the MRI images on his screen and described the debilitating pain that the images he was seeing must be causing. He talked in detail of numbness, burning, pain with any movement, muscle spasms that this thing must cause… it was like listening to someone else tell me all the things she had been saying, and sometimes pleading with anyone to listen to. Validating her in ways that are life-changing. There is a power in being believed that cannot be understated.

The decision to remove this tumor was not arrived at easily. As a matter of fact, in 2019 we were told it was essentially inoperable as he would need to open close to 10 inches of her leg. The tumor at that point was 5.5cm. We needed the embolizations and the cryoablations to shrink it. And they did. But, they also left behind little pellets from the embolizations, and excessive scarring from the cryablations. That sent the pain into high gear as her body has never taken kindly to ANYTHING extra, however, those necessary steps took the tumor down to just under 2cm. But every time there was a surgery and she didn’t feel better she felt like a failure. My girl doesn’t like to fail at anything.

This time it looks like we are finally on the right path. The 2 square inches of muscle hollowed out of her leg included all sorts of things that just like Meghan, “don’t fit in a box.” But by removing them, and getting a clear margin on this benign tumor, the surgeon was able to close her 4-inch opening from the femur back up to the skin and leave only healthy tissue behind to do its thing.

The days following her surgery are chronicled in the last few posts, and etched permanently in my soul.

But there has been progress. There is a fresh new Physical Therapist who is working hard to ensure that the scar tissue Meghan’s body loves to overgrow does not get out of hand. There is an increased range of motion. She can walk some distances unassisted on her best days. On the others, she’s furniture-dependent, but we’ll take it.

There are still muscle relaxants, but less of them. Some days the Advil is at 400mg doses and other days 800mg. She started sleeping in her own bed (upstairs) this week! 🙂

Some days are better and some days really stink. There are ups and downs. There is Physical Therapy three times a week. There is the EMT course three nights a week that she, by her grit and raw determination is still making happen.

So I leave you with this progress note. And thanks to those of you who have consistently checked in and followed us through this dark time. There is nothing like sitting in the depths of despair to shed clarity on who your people truly are.

#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…

Tuck and Roll

Published on by beatingcowdens2 Comments

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

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

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

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

The leg though…

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

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

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

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

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

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

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

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

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

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

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

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

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

Tuck. And. Roll.

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

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

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

The only way out is through.

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

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

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

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

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

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

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

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

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

#beatingcowdens

Agony

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Last night was the kind of night I never talk about. My girl tells me I let the world off easy because it makes everyone else uncomfortable when we talk about our pain. She insists it’s not my job to lessen our pain so others feel better. For me it’s always the way I go, but the truth is she’s not wrong.

Still it’s hard for me to tell the raw story. I use my writing to sort out all the dark thoughts and bring the light through. And when I can’t do that authentically I usually just stop. I stop writing. I stop talking. I hide.

Last night there was nowhere to go. It was a long dark night with hospital style interruptions every 7 minutes. There was minimal sleep, and unrelenting pain for my girl that was a solid 10/10 for hours.

Last night lasted forever. The gut wrenching cries drowned out the shattering of this mother’s heart when the hard truth that there is literally nothing I can do to help settled in.

The reality that the surgery involved the removal of inches of muscle was evident somewhere between the spasms I could see/ feel from the outside, and the Valium/ oxycodone/ dilaudid rotation that was being tossed at her to at least inch things a hair lower than 10/10.

Not helping at all was/is the feeling of numbness/ diminished feeling all down the front of her leg. She was/is not currently reassured by the theory that it could be nerve swelling. We’d have a better idea if they were able to push NSAIDs. But they can’t. Because that pain in the butt (literally and figuratively) tumor bled…

Having sat by her side through countless surgeries – this one officially wins the “Suckiest Surgery” award.

At some point they will brace her, put her on crutches, and get her moving. We are well aware that “the only way out is through.”

This surgery, where the patient is an adult who has a ton of knowledge of human anatomy and is prepping to be a healthcare professional- this surgery is the hardest. This surgery where mom is a guide on the side, and I can make actually nothing better… this surgery is the hardest.

This time I’m too tired to create a happy ending. This time I’m a 50 year old mom with about 90 minutes sleep in the last 30 hours.

Maybe this was the perfect time for me to tell the story I never share. Our story is one of overcoming, but if I don’t describe the obstacles/ land mines we overcome on the regular, maybe I’m not really doing our story justice.

Our story is one that does not quit, and does not give up. But our trauma from a life of this… it’s so ingrained in who we are that it’s impossible to tease the two apart.

Where does that leave you, well meaning family/ friends/ strangers? Well, it probably leaves you uncomfortable. And maybe for today that’s ok.

What can you do with that? You decide. Never underestimate the value of sitting alongside those who suffer even when you can’t fix it. Maybe especially then.

Either way- you choose. We’re busy using every ounce of strength we have…

#beatingcowdens

Recovery Room- The Waiting Place

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The recovery room is the land of mixed emotions. So grateful to see her on the other side of another surgery, yet so terrifying to see her pulse ox dip as they race to get her on oxygen.

Gutting to watch her screaming in pain until finally a cocktail of pain meds knock her out completely.

She should rest. After squeezing in her GRE from 9:30-11:30 she fired off 6 applications to Physician Assistant programs before catching less than 2 hours sleep.

That sense of urgency is our 24/7.

We left home at 4:30- arrived by 5:30 and was in surgery by 7:30.

Three and a half hours later, we got a decent- yet not perfect report and I sit by her bedside… waiting.

Waiting to see if she’ll breathe without oxygen the way she needs to.

Waiting to see how they’ll manage her pain.

Waiting to map out the road to recovery.

Waiting.

He got the tumor. But with it went some healthy muscle too. He got the tumor, but the SOB had a vascular component too.

He got the tumor… but…

There’s always a but.

For now we sit. And wait. And HOPE for all the best answers to chronically complicated questions.

#beatingcowdens

Have you had any surgeries?

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

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

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

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

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

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

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

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

We are a lot.

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

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

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

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

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

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

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

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

Because, What if it all works out?

#beaitngcowdens

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

Let’s talk about PTEN

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… said almost no one except us. Ever.

That’s why it was intriguing and exciting when Kristin Anothony from the PTEN Foundation contacted me last spring and asked me to share my story on a podcast. Kristin and I have been in touch since before she started the foundation that now represents all of us.

We met Kristin in person in 2018 when she flew to New York for a dinner where Meghan was being honored

We were interviewed for episode 2 of a 5 part podcast. The link is here…

I am constantly humbled by the number of people who interface with this blog. It is mind-blowing to me that people either stumble across this or come here on purpose to learn what our PTEN journey has been.

Back when we were diagnosed in 2011 the internet had sparse mentions of PTEN mutations or anything related to it. But, since I was a mom on a mission my first goal was to create a survival network of others who knew this journey. I connected with Australia, Virginia, California, Colorado, and Alabama. I later found others in places across the globe. And, even though we were all too far for gatherings, in many ways they became my closest confidants.

People dismiss social media, and as a teacher and a mom, I have seen the damage it can do. However, as a rare disease patient, I literally cannot imagine my life without it.

When a diagnosis that is new, scary, and uncertain comes your way, you need hope. You need success stories. You need to know that although it is hard, so hard that sometimes it seems impossible, you are not alone. Like so many other things in life, when used properly, it is good for us. When used in the spirit it was intended social media can be our lifeline, giving us the connections that we so desperately need.

And sometimes if you are lucky, one of your internet lifelines travels to New York from Virginia and you get to hug her in person…

Margaret and I in November 2021

And if you are not that lucky, well, you still are. Because we have an entire team right now, climbing Mt. Kilimanjaro in Africa to raise awareness for us, and to raise awareness of PTEN mutations across the globe.

The rest of the podcasts are linked here. The content is amazing, from Kristin, the founder, and president of the PTEN Foundation, to Ashley and Keegan, a PTEN mom and son who amaze us every day, to Dr. MacFarland and Dr. Frazier, much-needed and appreciated medical professionals helping us navigate this wild ride.

As we head into World Rare Disease Day this week, I encourage you to share your story. Share it here in the comments, or share it wherever you feel heard. It matters. You matter.

#beatingcowdens