I was in the stairwell close to the 5th floor of the nursing home where my grandmother resides when the phone rang. I paused, startled by the ring, and trying to suppress my slightly out of shape panting before I … Continue reading
I just ended a 30 minute conversation with Meghan’s adolescent gynecologist. The fact that she spends 30 minutes on the phone with me speaks to a rare spark of passion for her field, and a genuine desire to help. These are things we clutch because they are uncommon, and, when they come at all, they are fleeting.
The long and the short of the pathology, which arrived earlier than planned, was that there was no malignant finding. Yes, you read that right. No malignant finding. (Insert Happy Dance here…)
And the gratitude for the prayers and positive energy was lifted up. We truly are always aware of the potential alternatives, regardless of our situation.
But, as is always the case with Meghan, I encourage you to keep reading. Nothing is ever really simple. And, as the years go by it seems to get progressively more complicated.
While in fact there was no malignant finding, there was not a purely benign pathology either. She had “the best type of hyperplasia you’d want to find.”
Except when pressed, the gynecologist admitted that there is no type of hyperplasia that you’d ever want to find in a 12-year-old, and that there should be nothing but normal cells there.
Hmmm. Hyperplasia. Medicine.net says…. “Hyperplasia: An increase in the number of normal cells in a tissue or an organ. Hyperplasia can represent a precancerous condition.” And various other sites say the same. The doctor agreed. The pathology finding was not “normal,” and therefore it must be treated.
See, hyperplasia, specifically endometrial hyperplasia might be detected in women 3-4 times her age. It might even be expected in women 5 or 6 times her age. But, her age is 12. And none of this is ok.
I pushed her about thinking outside the box, and she reminded me that the entire biopsy WAS thinking outside the box. Any other teen would have been treated for months or more on hormones. That could have had epic consequences.
In the short-haul, she gets to heal from an invasive procedure. In the next week more hormones will be introduced to her body in an attempt to keep the hyperplasia at bay, and most importantly to keep it from progressing. But, hormones, although commonly used to regulate bleeding, require special care in the case of a young lady with no thyroid, a difficult time balancing the endocrine hormones, an extremely elevated risk of uterine and breast cancer, thanks to the PTEN mutation, AND TWO first degree relatives, with estrogen fed breast cancer.
For now, she keeps her uterus. And we hold our breath. We hope that over the next few months things will start to calm down. And some time in the next 6 months the invasive biopsy will be repeated over again to make sure the hyperplasia is gone or behaving itself.
To Meghan this mimics the process that took place at the beginning of the end of thyroid removal. We had about 3 years of progressive biopsies before they decided to pull the plug and take it out. She knows, and agrees, that we will all fight longer and harder for her uterus. For so many reasons. But the similarities can’t be overlooked. Nor can the distressing notion that another body part is misbehaving.
When we were diagnosed in 2011 we were told there would be screenings and monitoring. We even figured on a few doctors every 6 months. At one point we dreamed of getting them all into a week in August and a week in February and living a somewhat normal life the rest of the year.
Instead, in Meghan’s life alone there have been 5 surgical procedures in the last 13 months. Digest that for a minute, because it’s hard to keep track of.
Currently we are monitoring her thyroid levels through blood every 6-8 weeks, visits twice a year, and annual ultrasound to monitor potential regrowth.
We are monitoring her knee where the AVM resides, through twice a year visits to the interventional radiologist and twice a year visits to the orthopedist. There is an annual MRI. And two of those procedures in the last 13 months have been for the knee. Add in surgical follow-up visits, and Physical Therapy.
The dermatologist needs to see her twice a year. Not because anything has been found on her, but because in addition to me passing the PTEN gene to her, apparently her father and I BOTH have Dysplastic Nevus, a “precancerous” condition where moles have a tendency to become malignant. Couple that with the almost 10 % melanoma risk Cowden’s patients carry, and in addition to the sunscreen, there are necessary scannings.
There is the gastroenterologist, who became necessary almost two years ago when the use of Celebrex to control the knee AVM started to rot out the GI tract.
And the ENT who was added so he could monitor the larynx to avoid unnecessary endoscopy but gauge improvement from the scary state she was in in May of 2014.
Oh, and the doctor who prescribes the digestive enzymes because they work, and no one else will.
And the pediatrician who doesn’t like to go more than 3 weeks without examining Meghan, who also keeps her on Acyclovir, prophylactically for chronic HSV that recurs on her face.
And, don’t forget the hand surgeon, who we love, (who doesn’t have a hand surgeon on the team?) who has twice in 3 years removed vascular lesions, one from each palm. And those surgical follow ups.
Nothing is neat and clean. Nothing is contained. Nothing ever fit into those 2 weeks we once dreamed about. This disease has projectile vomited all over our lives. And it’s everywhere. And it’s messy and gross, and we just want to take a hot shower and move on.
Because we haven’t even discussed fitting in MY appointments…
And a full-time job….
And an honor student….
Who is a swimmer….
And a theater buff….
And a community activist in the making…
All after work, and school, into the city, in traffic, and expensive parking lots, in hopes of getting back local in time for practice.
Last week I told Meghan over the Christmas Vacation we would need to see her gyn, and do her knee MRI, and my abdominal sonogram. She was less than impressed. The general sentiment is that we don’t get vacations, we get days off from school to go to the doctor. I can’t argue.
The physical, mental, and social ramifications of this under-funded, “orphan disease” are having a profound effect on the life of my girl, and her mom and dad too.
That is one of the main reasons we work so hard to raise funds and awareness. Maybe one day…
So tonight, we are grateful. We are on our knees in gratitude, for the prayers that were lifted on her behalf. We are thrilled to hear the words, “It’s not malignant,” but we are painfully aware the journey of monitoring another body part has just begun.
So if we are not shouting from the rooftops, please don’t think us ungrateful. We are not. We are relieved. We took our first deep breath in weeks. But, we did ask Santa for some new body armor, polished and ready for the new challenges PTEN Hamartoma Tumor Syndrome, (Cowden’s Syndrome) are actively placing in our way.
We ask that you continue your prayers, and continue to educate yourself about genetic cancers, orphan diseases and people like us, left to be our own advocates, in a world that isn’t overly concerned with how our story shakes out.
While we are in transit, to and from a lot of places we’d rather not be, we talk a lot. Most of it is complicated. But some of it, is quite simply about how a 12-year-old with a vision is going to change the world.
Come join us on FEBRUARY 21st as we try to draw attention to Rare and Genetic Diseases! Beating Cowden’s Fundraiser LINK – PLEASE HELP US SPREAD THE WORD!
It’s always a good time to be grateful. Especially Thanksgiving week with catastrophe averted. Even full of memories from a year ago, I feel gratitude.
Just a week ago I wrote a post called “Plot Twist”
where I mentioned the AVM in the knee was starting to become a problem.
One day I will learn to trust instincts. I will look back on signs and think – I should have seen that coming. But, for now I remain a bit of a slow learner.
See, in May when we ended up with the gastritis mess, there were warning signs. For days prior she spoke of the “fire” in her throat. Of this general feeling of being unsettled. And then everything broke down.
Monday was not the first time in recent weeks she had complained about the knee.
In August, about three months after we stopped the Celebrex, there were signs. Subtle signs. We went for the MRI. We went for the visit. The doctor saw “something,” evidence the AVM was still “live.” He told her to wait until there was pain, and then come see him. Our appointment was for December 1.
The pain has been progressive. But, right or wrong, having a rare disease, and living with a child who has one too, I often have on my “suck it up and let’s go” personality.
“Mom, my knee hurts. I think it’s swollen.”
“Yes. it’s a little swollen, but mine is too. You’ll be ok.”
“Mom, my leg is throbbing. I can feel it pulsing.”
“Mine does that too – here, feel. Now let’s go – we have to get to school”
Ok, so looking back, perhaps these are not normal conversations. I am in consultation with a vascular surgeon to address the messiest of my leg issues – as soon as I can fit it in. Maybe most parents would have been more bothered. I mean I WAS bothered. But, if I stopped every time – goodness, we’d never even get out of the house. If I addressed every pain – I’d give this disease more power than I’d like it to have.
So for now, we “suck it up” together. Different. But the same.
We talk about other people’s pain. We wonder about different types of pain. We think about what it would be like if the pain could be fixed. We wonder about kids who use pain as an excuse. We acknowledge that you can never know what goes on in someone else’s body.
So we adopted positive thinking and visualization. She drew a smiley face on that knee to convince herself she could get through it. And she pressed on.
Sunday, while I was in Vermont, she was at a swim clinic. And Monday, she finished an hour and change of practice. Walked past me smiling. Walked out of the locker room and basically fell to the floor.
I did some more of my “suck it up” talking, as my heart sank. This was the real deal, but we were too far from the car. Everything about her body language told me we were in trouble. I finally, by Grace alone got her into the car, and headed immediately to urgi care. We lasted about 10 minutes there before we were booted to an ER. The leg was getting frighteningly larger by the moment.
My gut. My instincts told me to go to the knee surgeon. So we threw a bag together and got to Lenox Hill Hospital on 77th street.
After I got them to page her doctor, we immediately were notified we’d be admitted.
When we got to the room at 4:30 AM the tell-tale “NPO” (nothing by mouth – for any surgery rookies) was on the door. Can’t knock the kids timing. I knew he operates Tuesdays.
The team arrived mid morning to assess. They set her up for 1 PM surgery.
“That’s blood. And it has to be taken care of now.”
Ok – show me where to sign.
Blood and joints don’t mix. Not without consequences. This I know from experience with this child.
Get it out.
And as I waited… that awful waiting time… my mind wandered. I thought about her swimming, and the time she is trying so hard to beat. I thought about how much harder she’ll need to work to get it back together. I thought about it being unfair. And I thought about a mom in California whose extended hours on the phone to me as we were panicking and newly diagnosed were of such solace. I though of the hell her girl has gone through. Over and over. Then I thought about my internet friends in Australia. One young lady who had her thyroid removed AGAIN. Yep – two partials, and then one side GREW BACK. Unfair. Then the ultimate lesson in unfair in the countless brain surgeries, 10, 12 hours at a clip for a young woman with a similar vascular condition to Meghan in a much more dangerous place. I thought about her life on hold. I thought about her recent surgery derailed as they discovered multinodular goiter on the thyroid. I wished I could have tea with them. Right then. To talk to someone who does this. This hospital thing. This surgery thing. Like its their job. Cause that’s just what we do.
And there are no contests. No one has to have it worse. No one makes you feel like it’s not important. This just is our life. This is life with Cowden’s Syndrome. Beat it. So it doesn’t beat you.
And when they came to get me, to tell me she was in recovery, they told me they drained 50ccs of blood out of that knee-joint. Apparently there was a hole about the size of a pea. It got plugged. A fast flow leak. They hope that’s all of it.
Flashback to 2012. Last surgery, when the doctor was so unsettled that there was ANY blood in the knee-joint that he told us about the damage it could cause and sent us to Boston for a consult with a doctor who could scope the knee-joint. And we went. But we never went back. Things got better. We started Celebrex a month after that surgery in 2012. That was number 4. Number 5 was yesterday.
In 6 weeks we’ll go back for post-op. We’ll talk about whether things are better. There is someone in New York, on his team, doing that scope now – if she needs it.
In 6 weeks I hope she’s kicking some serious butt in the pool. I hope this is a memory. An update in the growing medical file.
This is life. This is life with Cowden’s Syndrome. This is our life.
Everyone has something. And yes, it could be worse. But right now, at this moment – we are tired. And that’s OK too. I am emotional, remembering a year ago today we admitted my Dad to the VA hospital that he would never leave.
Thanksgiving will be quiet tomorrow. Just the three of us. And reflective. This week is going to be wracked with emotion.
For tomorrow, I’ll take the fact that my husband makes a mean turkey and a fantastic Gluten Free stuffing as a win.
The little things ARE the big things. We ARE BEATING COWDENS!
I used to be afraid of roller coasters, and their short, fast twisting, turning excitement.
Then I realized roller coasters and life have a lot in common. So I started riding them, cause really -what the heck?
If there has ever been a lesson in the unpredictable nature of life, I am confident it has played out in the last two or so years. And I am confident I have studied hard, and that I understand. I understand that just when you think you might understand – you don’t.
You see, just when you think you may even comprehend the every-changing, unpredictable nature of life around us, there will inevitably be a way to prove to you you don’t have it quite right.
There have been more funerals this year than I care to count. Maybe its always like this, and I am just noticing now that 40 is behind me. Or maybe not. But there have been funerals for friends, for the brother of friend, for my own father, for my uncle, the precious father of three beautiful adult children, and for my Grandma, and a well-loved great-uncle, and the grandparents and parents of friends… and…
As I sit here thinking about all of them I try for the umpteenth time to rationalize. And I get farther with some than others. Some will just never do.
But the ultimate realization is that it’s not really mine to figure out. It’s not mine to decide how it fits in the grand plan. And I’m trying to stop looking to figure it out. Because, boy it can be exhausting.
And as I sit here in the wee small hours of the morning, I remember – that painful Thanksgiving week last year, as Dad fought and fought, and I wonder why. But, as much as I miss him, it’s not in a pitying kind of why. It’s in a genuine curiosity for something I will likely never be allowed to understand. Very much the way he used to ask me why he made it home from Vietnam and his friend Tommy didn’t.
It’s the same kind if why when Mom asks, why after being 18 years a breast cancer survivor, why she is “clean,” and so many have lost the fight.
As I listen to the rhythmic snoring of my husband, and watch my fidgety sleeping 11-year-old, I wonder.
I wonder how we ended up here – again, on the second floor of this hospital. Today. Now.
12 hours ago I thought I was tired. HA! What did I know.
450 miles in about 30 hours to celebrate the life of a great man, my uncle. Lots of driving, lots of thinking, lots of observing. Lots of admiration for his children, grown up children, who undoubtedly will make him proud forever with their compassion and good humor. Lots of respect for his wife – living her marriage vows through all the crappy stuff with poise and dignity. Lots of awe for my other Dad Ken, and GGMa, his mom, as they stood together, their original immediate family ripped in half in just over 2 years time.
12 hours ago I thought I would go to bed early.
But I ended up picking Meghan up from swim practice on the way home from Vermont. And she walked out of the locker room and almost fell to the ground with tears.
“I can’t walk. It’s my knee.”
And I checked off the list – Did you fall? Did you bang it? Did you hurt it doing dryland? One at a time I asked the questions, even though I knew the answers.
This knee. The one we’ve been waiting for since we stopped the celebrex had finally given way.
We had had hopes of finishing swim season first. That was before we had to refocus our hopes to making it into urgi care without falling.
We were promptly told to get out, and get to an ER. Fast. The swelling was too big.
Still in my funeral clothes I raced home long enough to tell Felix to dress for work, and to get into some sweats. A quick bag for Meghan and I and we were off. This time to Lenox Hill ER. Cause that’s where they do the knee surgeries. And not that I’m trying to plan. But just in case… Maybe we should be at the right place.
They contacted her doctor. He’s sure it’s the AVM, but he’ll confirm in person in another hour or so. In the mean time nothing to eat or drink for Ms. Meghan after midnight. Just in case.
AND regardless – we remain BEATINGCOWDENS!
We are thinking we are far from alone in appreciating this Facebook post from the Global Genes Project. I mean these days it seems more than ever, I barely talk to someone whose life isn’t taking major, unforeseen “Plot Twists,” on a regular basis.
Whether it is the sick parent, or parents; the terminally ill or recently passed loved one; the stress of work, moving, new job, or the new house, life has a habit of not going according to plan. Brain surgeries interrupted, recurrent thyroid surgeries. The list really goes on and on. The only constant being change. And not on our pace, or our time. God alone knows the true plot of our stories.
Some have almost played out and are nearing the climax. Others are barely introducing the characters. And the older you get, the more you realize that doesn’t have as much to do with age as you might have once thought.
Sometimes I want to read faster. To see what comes next. To see how it all works out in the end. Sometimes I want to hide the book in a deep crevice, in a padlocked safe and convince myself that if I just don’t look at it, everything will be OK.
My logical mind knows that neither is true. And I, like everyone else, am left to brave each day doing the best I can with what I have, where I am. I am left to do my best to be kind. To realize everyone suffers battles. To pay it forward when possible. To pray for the best, and have faith when the worst hits.
We plod along here. The leg is getting worse. Much worse. The AVM is rearing its ugly head. A “Plot Twist” indeed. See in May when she spent a week in the hospital with severe gastritis, they said no more Celebrex. No one except Felix and I got the gravity of that statement. Celebrex had been in our lives since March of 2012, a month after the 4th knee surgery. And the knee had been remarkably quiet. You see in our lives, the life of Cowden’s Syndrome, Celebrex is used to treat AVMs – which are pretty common among us. It helps with the pain, and it has an affect on angiogenesis, which affects the flow of the blood.
Except the Celebrex, according to the report, had caused a very sensitive GI tract to go totally haywire. They said it caused 6 days in the hospital, dehydration, IV fluid, and a hot mess of tests. Over and over Celebrex took the blame. The drug she had taken peacefully for 2 years had finally said, “enough.” The esophagus was so damaged it looked like a 70 year-old man belonged to it. No more Celebrex. No more NSAIDs. At all. We were scared. Something had definitely gone wrong.
“PLOT TWIST!” Cause those drugs were keeping her walking, sometimes running, swimming, and playing.
But we wonder, her Dad and I, if that was really that simple. Our girl has been on some time of Protein Pump Inhibitor since she was 4 months old. She takes pancreatic enzymes to aid her digestion of a very restricted diet. And still we have always had to “pay attention.” Maybe it was the Celebrex. Probably it was the Celebrex. But what if it wasn’t?
When we left the hospital in May we figured 6 months before the knee was a serious issue again. It started in August. It’s getting worse.
On December 1st we’ll see the doctor who has dealt with it each time before.
But now we have an athlete. A swimmer who LOVES to compete. A swimmer with goals. Attainable goals. The time on Celebrex gave her time to get a taste of swimming. And she likes it. A lot.
So there will be some balancing to be done. How long is it safe to wait? How long can she stand to wait? How much of the season can she swim? How much pain can she take? How big is the AVM?
We have things to focus on. The February find raiser has us excited, and occupied. We will keep busy.
The story will unfold. Some of the best ones have multiple plot twists.
I mailed 15 pounds of medical history to the doctor who showed a hopeful interest a few weeks ago. She’ll have it tomorrow. Now let’s see what becomes of it.
Life doesn’t allow for planning. Mom keeps telling me. This year there is more up in the air than down. And yet, the days will come, one at a time. We will meet them, deal with them, and move on.
Cause really what other choice do we have? What choice do any of us have?
Saturday as she cleaned the music blasted. Katy Perry’s, “Roar”
…You held me down, but I got up (HEY!)
Already brushing off the dust
You hear my voice, you hear that sound
Like thunder gonna shake the ground
You held me down, but I got up (HEY!)
Get ready ’cause I’ve had enough
I see it all, I see it now…
…I got the eye of the tiger, a fighter, dancing through the fire
‘Cause I am a champion and you’re gonna hear me roar…
I don’t know why I second guess her instinct. Maybe one day I’ll learn.
We arrived in Manhattan early. We dropped Mom off so she could get to her appointment. We parked the car at a better rate than I expected. We walked a few blocks nice and slow. And we arrived at our 9 AM appointment by 8:35. Paperwork completed – we were sent down to the waiting area for MRI.
An empty room, and a few minutes to spare, I stepped into the lady’s room. No sooner did I get in there than I heard Meghan speak. “Calling us already?” I wondered.
I joined her in the waiting room and the shell-shocked look on her face was a mix of horror and confusion.
“Mom, I don’t want him to stick me.”
“Relax, you don’t know. He might be very good.”
“I’m telling you Mom, this is NOT going to go well.”
And, as I tried desperately to calm her rising anxiety, we waited.
We got called back and locked our things in our locker. The technician sized her up and decided her carefully planned outfit would work and she didn’t need to change. Then I asked him if I had to remove my jewelry.
“You can not go in.”
Calmly, ” I am sure I can, she has had countless MRIs and I have stood beside her for every one.”
“I will have to ask my boss. And, we have to see if the braces are OK.”
“But, I told them about the braces when I booked the appointment.”
“Well this is a very strong magnet.”
And with that he led Meghan inside towards the machine and she promptly backed away.
“Mom, my braces!”
To which the technician replied, “You’ll have to reschedule.”
And then the anxiety took hold and my girl began to shake.
“I am very very angry,” I began in my “not so nice” voice. “You have no idea the amount of planning that went into this, and the amount of worry that has been expended by my daughter.”
“I understand…” he began, in his patronizing, not very helpful voice.
And I honestly don’t recall if he got in another word, because Mamma bear was loose.
I can’t even quote myself, because I was that flipped out by this man who dared to tell me he understood. See, I can be reasonable. I really can. You can tell me you are sorry. But you can’t tell me you understand. Because just like I don’t claim to understand anyone else’s life – no one should flippantly tell me they understand. At least not until they have seen their child through at least 11 surgeries, countless procedures, ridiculous numbers of blood tests, multiple hospitalizations, and countless sub-par phlebotomists. Not until they have sat awake at night calming their child’s trembling fears by touching them – just so they stop shaking in their sleep. Not unless they know what its like to have candid conversations about pathology reports and the virtually insurmountable malignancy fears. Unless they have heard their young girl ask if her children will one day carry this mutation that has caused her so much heartache. Unless they have heard their 10-year-old consider whether its worth it to have their own children… one day.
See sometime two weeks ago we went for a routine follow-up at the vascular surgeon. He did a sonogram of the AVM that caused so many years of heartache, and surgery in 2009, 2010, 2011, and has been blissfully quiet since the last surgery there in February 2012. And he saw some “spongy” spots in there that needed to be looked at. So we scheduled the MRI, knowing that we “saw this coming.” The Celebrex had been destroying her stomach and controlling her knee. The ultimate catch-22. So the worry was about the MRI, and the needle for the contrast, and the wonder about WHEN, not IF the next knee surgery will be.
And all this was bottled up inside of me and came spewing out at this man who dared to casually tell me he understood what it meant to”reschedule” an MRI that had been deliberately scheduled based on time and location to correspond with a trip to the oncologist, and spare her an unnecessary day wasted at a doctor’s appointment.
And as I cried for a supervisor, Toni came flipping around the corner. She sized up the situation, gave Meghan a blanket, sat her down, and told me she was going to fix it. And she did.
I have never in my life seen a supervisor in any capacity who was beyond competent, and extraordinarily compassionate. She got INTO A TAXI WITH US, and took us across town. She walked us into the facility, the entire time reassuring Meghan that she had a special nurse who would handle the needle. I saw the look in Meghan’s eye that said, “That’s what they all say.”
But Toni didn’t lie. Within minutes of walking into the facility we were greeted by Allison, and Manny. Both talked to Meghan. They looked at her arms. They told her a blind person could catch her vein. They told her it would be a butterfly. They told her no IV. They let her pick who would do the contrast dye and did it in such a reassuring way that she knew neither would feel badly if she picked the other.
Then Michelle and Chad made her feel like an old friend. They were so warm and comforting. They positioned her just so, and reassured her in such a way that she took this incredible deep breath. And when Allison came in to give the contrast dye, Chad held one hand, and I held the arm and she never even felt the needle. Chaos turned into probably the most successful MRI to date. Sweet relief.
But we left the facility only for me to realize we were now clear across town without our car. I held my breath and hailed my first cab. (Put that on the bucket list, and took it off in the same day!)
An hour with the oncologist, always plays with my mind a bit, but there will be time to process her recommendations for vigilant screenings necessary with Cowden’s Syndrome.
We left at almost 1, feeling quite like we had already lived several days. Then there was this matter of the “Treat Shop” on the upper West Side. I had planned to go because it was so close to the first MRI site… but not too close to our car. I walked, she limped by the end, and I am sure I will pay for this for days, but we made it. A small store full of glorious Gluten Free treats. And there were 6 dairy and soy free options as well. Heavenly – and my daughter said, “worth the pain!”
An afternoon playing with a friend from school, and the sound of girls giggling, made the horrendous morning, and the most unforgiving traffic I have seen in recent memory begin to leave my neck and shoulders. As the tension began to release I found myself reflective. Hopeful. But still unsure.
Watching her at ease on the couch I am reminded not to plan. I am reminded to trust Meghan’s instincts. I am enjoying the cool breeze, and for the moment the uncorrected mess.
I am grateful for Toni, and Manny, and Allison, and Chad and Michelle. If only everyone took their jobs so seriously. Healthcare, and the world for that matter, would be in a much better place.
Even if just for today they made BEATINGCOWDENS a little easier.
I know that teachers have the power to change lives, but as my girl gets to the middle school years, I am really starting to think the power is with the coaches.
I have always wanted my daughter to be an athlete, and truth be told, THAT didn’t take much convincing. She is a natural competitor. She loves the thrill of racing. competing, and performing. She has done some time in soccer, with some fantastic coaches, who worked to nurture her. She loved her time dancing. But, her body, much to her chagrin, was not made for pounding. The knees, and hips, and major joints couldn’t handle the impact.
So we headed to the pool. Her first experience with any competitive swimming came at the age of 9, on a CYO team we were connected to through a friend. Soon after that season she tried out, and was accepted to join a 12 month team. She began with them in July of 2013. And, while the desire to compete was always strong in her, it seemed there was constantly something standing in her way.
We started the year with the goal of making 2-3 practices a week. But, in the fall things took some wild turns, and there were migraines, and neurologist visits, viruses, and fatigue, and strep, and one obstacle after another. There were weeks one practice seemed like a feat. Meghan had a hard time finding her place, because she wasn’t there much. And the cycle continued. During the fall my father became ill and passed away quite suddenly in December. That set her into a bit of a tailspin. Then in the end of December a routine thyroid appointment told us there was much to be concerned about, and that she’d need her thyroid removed.
Ironically this is about the time she started to enjoy going to practice. The coaches were intelligent, and compassionate. The kids were all finding their way.
Meghan responded so well to the two young women who coached her most often. They understood her medical trials, but treated her no differently. They pushed her just enough, but never too hard. They listened when things hurt, and gave her ways to work through it.
She mustered the courage, and stayed healthy enough to make it to her first big meet in January. She was awed by the whole experience, and truth be told, I don’t even remember what she swam. Like so many firsts, it was about getting it done.
Thyroid surgery in February sidelined her for a few weeks. And, long after her body had healed physically, her thyroid hormone levels never seemed to take to the synthetic replacements. An emergency room trip in February – 10 days post op, led to an overnight stay and the elimination of the synthetic calcium from her diet completely.
But, by the beginning of March she headed back to practice. Her coaches welcomed her, encouraged her, and built her up. She started making regular practices, and swimming CYO at the same time.
Then, in May her body quit again. Severe gastritis landed her in the local hospital for 6 days. She missed her last CYO meet. She underwent extensive testing, and the blame for the erosions in the esophagus, and the inflamed, bleeding ulcerations in her stomach lay with the Celebrex – the very medication that was allowing her to function through the chronic pain that plagues her.
The elimination of Celebrex, and the discoveries of the damage it had caused in her GI tract, led to changes. Her already Gluten, Dairy, Soy free diet, became also free of beef, spices, chocolate, and the other tastes that had carried her through. Then there was the pain. The constant awareness of pain in all her major joints was playing mind games with her. The pain – very real – could be fed nothing to control it. Oral pain meds were, and still are off limits.
Weak from her stay in the hospital, it took another week home before she could even consider a return to practice. And when she did, she was angry. She was angry at her body for the pain, and angry that she couldn’t keep her old pace. She was just angry.
But the coaches, they were supportive. They let her take the lead. They let her take her time. She rested when she needed to. She left early when she had to. And finally, just about 3 weeks ago she started making full practices again.
The pain is a daily battle. One she is fighting with mental power to overcome, and the best nutrition we can offer to her.
Last week she made 4 days of swim camp with the varsity swimming head coach at the local college. 6 hours a day. She slept well. She was sore. But she was determined.
So, when we set off for the meet upstate yesterday, my expectations were low. I was hoping she would finish without disqualifying. 100m of butterfly is not for the faint of heart, especially in a 50 meter pool. But she did it. And closed in with a time .67 seconds away from qualifying her for Junior Olympics. Junior Olympics, the best of the best swimmers in her age group. An honor just to make it in the door.
We went back today to give it one more try, but it wasn’t meant to be. This year.
Close doesn’t cut it. This I know. Except when you consider that she got THIS close, despite all odds, it’s something to consider. Meghan’s synthetic thyroid replacement is not working. It’s just not. At our last appointment we found out her TSH level – the Thyroid Stimulating hormone has increased by over 300% in 6 weeks. Post operatively it remained about a 10, it took a brief dip to 6, and then over a 6 week span increased to 20.5. ABNORMALLY HIGH is what it says on the lab report. That, combined with her low levels of T4 means that the work of the thyroid, that can not be done by the gland that was removed, is not being done by the medication, which has just short of doubled since February. The endocrinologist is baffled. I’m concerned, but not shocked. He agreed to research alternative medication, but he has, “never had to prescribe one before.” For those of you not thyroid patients, you are considered hypothyroid, once the TSH goes above 5. Most people feel human between 1 and 3. I function best when mine is .5. At 20.5 you would likely not find me out of my bed. You would certainly not find me at swim practice.
“Mind over matter,” we say.
“Everyone has something,” we say.
“Show the world you are better than Cowden’s Syndrome,” we say.
And she does. All the time.
On the way home we talked a lot. We talked about obstacles, and overcoming. She started to set goals.
And then, there was this text from her coaches.
“”Hi Mrs. Ortega. (We) just wanted to send you guys a text and let you know how proud we are of Meghan. She is such a pleasure to coach and is always looking for ways to improve and be her best. Swimming isn’t only about the times, it’s about the people and having the opportunity to create and share memories, good and bad. Meghan has so much drive, and goes through more than we can even imagine. She is truly amazing to go through everything she does and still push her body in the water. Today was just the first time. We know there will be plenty more opportunities for her to make cut times, and we know she will. She has limitless potential and we want her to know that. She is truly an amazing person, and we are lucky to be able to coach her.”
And in that moment, everything was OK. Coaches have this incredible power. They can motivate and heal and push in the same breath. They are gifted with selflessness like no other. My heart is grateful for these women who will continue to shape my daughter’s future. May they always know the impact they are having on a life full of bumps, twists, and turns.
I needed today. For so many reasons.
Even thought Meghan had 2 appointments today – 11:15 and 12 – it was a good day.
We all slept. Late. All three of us. I mean 10:00. A good sign that we – all three- are shot.
I mean, not a whole lot changed from yesterday, in that it took a full 10 minutes before Meghan’s pain subsided enough for her to walk. And she was sensitive to the touch, so it was even hard to rub her. But everything is a little better at 10 AM.
And there was the Isagenix shake – blessed by her GI doctor, back in the mix made with blueberry and coconut milk – that went down smoothly as she took the new regimen of pills. I finally have a doctor who understands quality nutrition, and who “gets” that you can be sensitive to one type of milk protein and not another.
And after the appointments, even though I got the frustrating news that the “it’s broken, it’s fixed, it’s broken, it’s fixed” 1996 Saturn has likely advanced to “deal with it – it’s done” status, it was still OK.
Because we got home, and then Felix made lunch. I stayed home with Meghan and her “better but not gone” stomach pain.
After that he took the working car to get the wood for the deck railing that has completely rotted out.
No one can really explain that – but we are kind of used to it.
The deck – pressure treated wood – was put together between 2000 and 2004. By all accounts it is falling apart. And its not from faulty construction. The base is solid. The center is stable. But the galvanized screws are literally wasting away – and the wood, especially the rails, is rotting. Maybe it’s too much sun. Maybe it’s a stain product we used early in its life. It really doesn’t matter. It’s done and has to go on the budget list for a full replacement in the near future. But for now we patch.
The bay window wins. Installed in November of 2000 – on my birthday to be exact- the lower left corner of the center window has rotted out completely. The entire window – hole in the house and all – needs to be replaced.
So while Felix was getting the wood, he priced the window Tonight we have to do some comparison work. Then the order has to go in.
But this afternoon I sat still. For a few hours. And I really, really, really liked it.
It’s easy to feel guilty. That there are things that need doing. There are people who could use our help. And there are people who need to be visited. And there are phone calls that need to be made. But, last week my Mom told me if I didn’t take some time for myself I might lose my mind. She’s right. Although I could say the same to her, and most people I know. It’s hard for any of us to just stop and sit still.
I haven’t written since Monday. The arrogance I encountered that day kept me stewing for most of the week. And… I don’t think I’m over it yet. But I wanted to pull my thoughts together and go at it with a clear head. But if I keep waiting for a clear head I may have to stop writing forever. Because the pain my child endures – regularly- is horrendous and worsening.
If the purpose of this blog is to create a chronology of our experience with Cowden’s Syndrome – then it all has to be shared. The good, the bad, and the arrogant.
A friend who endures more than her share of struggles with her children placed this on my wall this week. I can’t tell you how many times I laughed out loud.
Tuesday I called the surgeon’s office after school to inquire about the sonogram. He spoke to me – to tell me that there is absolutely nothing wrong with her neck.
Insert sigh of relief here, right?
So I said thank you, and requested a copy of the report. It was to be emailed to me within 10 minutes.
And while I was processing the conversation I had with the surgeon, I was contemplating what I would see on the report. You see, the local sonogram bothered the surgeon. So when we went to have it done I watched the screen like the hawk I am. I watched every measurement, every angle for 30 minutes. I SAW the exact dimensions from the local sonogram recorded. And yet the report was the most incomplete one I have ever seen. It simply said “normal” several times. It was contained on one sheet of paper, unlike the three I had become used to.
I wanted to be relieved so badly. I wanted to take a breath and say “whew!”
But I feel the lump in her neck. And she feels it.
What I needed was a doctor to say, “It’s there and it’s fine.” THAT would have been OK. THAT would have settled me down. But, to say it’s NOT there…. THAT leaves me with a whole other set of unsettled nerves.
And then the phone rang. Again. And it was the surgeon’s office. His secretary told me we needed to go back for a follow up. I was stunned. And perplexed.
Why a follow up? He just told me everything was fine!
The doctor just wants to see her one more time before the summer.
This from the same surgeon who three visits ago NEVER wanted to see us again.
So I set the appointment for June 16th. And I wondered really what I am supposed to think.
So I got the number for medical records and I got a CD of that exam placed on CD.
I’ll bring the CD with us for the endocrine consult at ANOTHER hospital on June 12th.
And this isn’t even the pressing problem right now. Or at least we don’t think so.
The next set of thyroid labs are going to be next week. We need to see if this new dose is making ANY difference in her thyroid hormone. If it is, well great. And if it isn’t… someone needs to start figuring out what’s going on.
There is pain. All the time. Terrible pain. Worse when she wakes up. And, when she tries to walk, up the stairs. Or down. Or if she tries to lift something. Or bend to pet the dogs. Or run. She made it through 18 minutes of swim practice on Weds. Then I had to help her get dressed.
The pain varies in intensity. But it doesn’t leave. And she is frustrated. And frightened.
Holding my head in her hands, looking me right in the eye, I received the admonishment a few days ago, “I am telling you I can not do this forever. I can handle this pain a bit longer, but you NEED to help me. I CAN NOT do this forever.”
I get it Meg. I get it. I don’t really get your pain. But I get the urgency. I am all over it. Trust me.
But that kind of pressure will wipe you out.
The GI on Weds. was happy with her progress. The pathology showed cellular changes all through the GI tract. She told us of the spot in the stomach she chose not to biopsy because it bled as the scope passed over it. She gave us the “reflux” diet. She reviewed medication and supplements. She made sure I have an ENT appointment – for June 3rd. She things the upper esophageal damage is caused by a chronic post nasal drip. And maybe “fingers crossed,” that will be the throat clearing too. Because if not there is another diet – with more restrictions on the horizon. But we can’t race. We will see her in the beginning of July. We are clear on the directions. Especially the one that said, “no pain medicine by mouth.” The damage done by 4 years of NSAIDs will take months to reverse. If we are lucky. Her Cowden’s Syndrome cellular overgrowth reacted to the insult by thickening the esophagus at spots, inflaming the stomach and causing a real mess.
That doesn’t leave a whole lot of options.
So from 200mg a day of a strong NSAID to nothing…
I ordered some herbs. Some that have anti inflammatory properties. I have read and researched them and have sold them to her as the best thing since Celebrex. They will be here tomorrow. Let’s all pray I am right.
Some people think she exaggerates, because there are glimmers of smiles. There are times when she laughs. There are people who want her to feel better just because time has passed. Trust me no one wants this more than her parents.
I would not trade her – or a moment of the last almost 11 years, but this constant struggle is wearing on us all. We are isolated. Family and friends alike are often unaware of what to say, or do. We are afraid to eat anywhere other than home, afraid to be too far away in case her stomach hurts, afraid to be away from home for too long because the pain is often too much to bear. We are lucky, fortunate, blessed, to have each other. We are acutely aware of the struggles of so many, and we know we are far from alone when we say we are exhausted.
I needed today. I did random things like taking the 5 gigs of pictures and video off the iPhone. I uploaded them to shutterfly. I combined them with the family photos and I placed the first print order since August of 2012. We are up to August of 2013 now. You see I used to be all over this kind of thing. But life… it gets in the way.
And the nicest part about today was looking at the memories. The smiles. The happy times in those photos. You see today I needed to be reminded…
And that is what today was about.
Because next week there is Field Day, with prayers that there can be mobility by then. And next week there is blood work. And next week there is swim practice, and so many things that we want to go very, very well.
Today, I needed today.
Tomorrow I was scheduled to attend a professional development workshop entitled “The Productive Struggle.” I was kind of excited to go, as it sounded like quality PD right up my alley. “The Productive Struggle” is supposed to focus on helping students find their way through the rigorous problems and questions of the Common Core Learning Standards (CCLS.) And regardless of your opinion on standardized testing, when you break down the basic principles of these standards to their center, there is much value, and much to learn.
As a math teacher I like to focus on having students “Persevere to solve problems.”
This is in no way as easy as it sounds. Children are programmed to wait. They want the “right” answer. They fear trying and making mistakes, and learning, and trying again.
As a teacher it is my job to give them the skills they need to solve problems. I need to make sure their knowledge of math is broad. I need to tap off the skills their classroom teachers have taught. I need to set firm boundaries and standards for not giving up. Then I need to step back and let it happen.
Some days it is like a well rehearsed symphony. And other days it sounds a bit like an early childhood music class. But I try, and try again, and we make progress. Because giving up is not an option.
I have had some time to think, being cooped up here in the hospital this last week. And tonight it is easy to understand while I am glad to be by my daughter’s side, I am sad to miss any lesson in the “productive struggle.”
In many ways it is what is missing in our lives as patients with Rare Diseases.
Follow my logic, using my Meghan as an example.
So Thursday she woke up vomiting bile, and in tons of pain.
Terrible reflux, awful stomach cramps.
Fever, back pain.
And so it continued, and still continues. We have met many nice, well intention-ed doctors and residents. And we have met a few that should really use their intelligence to become researchers and stay far away from people.
But 5 days later my daughter still sits with stomach pain, difficulty eating, and some pretty significant GI issues.
We have had ultrasound, CT scan, and countless lab tests. Tomorrow she will have endoscopy at 2 PM.
Some of the medication changes have been beneficial. And we may see a slight decrease in the severity of her pain tonight.
But, what is the root of the problem?
She didn’t develop GI issues so severe they require a lengthy hospital stay without there being any connection to the rest of her body.
I have a 4 inch thick binder with medical history. It reads as a chronology of 11 surgeries, several hospitalizations, outpatient procedures and more. There is lab work, sonograms, MRI reports. I actively cataloged the whole thing by date. And I brought it. And I offered it to the doctors.
And then I took it home. No one even laughed at the cartoon on the cover. I’m not sure it was ever opened.
See the problem we have, Meghan and I, and so many others, transcends Cowden’s Syndrome.
The problem is that most practicing doctors have never encountered, experienced, or worked through the “Productive Struggle.” So when a tough case hits them – they only do what they would normally do. And when all those tests are fruitless, instead of thinking outside the box – they assume OUR box is broken.
Meghan and I went through the chronology of the last year together last night. We spoke about the AVM on her hand. We continued through the MRIs that exposed her to extreme amounts of gadolinium. We talked about the two rounds of heavy metal chelation, and how even though she excreted significant heavy metal, the rebound effect triggered crippling migraine headaches. We recalled the neurologist, and the instant diagnosis of migraine without much history, touting them as “very common.” We remembered another MRI to make sure the brain was clear. We talked about the medicine for the migraines and whether it really worked, and how it kept getting raised every time she had another headache. Raised, not changed. We talked about the tickle in her throat that started in November, and the neurologist’s flippant remark that it might “just be a tic.” We talked about the neurologist telling us to increase the Celebrex to stop her last migraine – which it did, but it was never his drug to change to begin with and he never consulted the prescribing doctor. We talked about the thyroid nodule, and the subsequent biopsy and thyroidectomy. We talked about the surgery and the hospitalization that followed with GI issues in February. We spoke about the throat clearing “tic?” that we had hoped would resolve after the thyroidectomy. Then we spoke about thyroid hormones, and what having a body in a hypothyroid state for months can do. We spoke about the ENT and his determination that there was inflammation in the nose. We discussed his nasal spray and admonition to double the reflux medicine.
And then, after ten minutes of talking out the medical highlights of the last 10 months we realized NO ONE had asked about any of that.
It was like she is here being treated for a totally separate problem as a kid who “happens to have” Cowden’s Syndrome.
So they order their tests. One at a time. And they watch and wait. And we go for ultrasound and CT scan. And we change-up some medications.
But no one asks what the effects will be of her stopping Celebrex. No one asks why her body required such a dose, even as I start to see the initial effects of the NSAIDs being totally our of her system.
They come in and tap her belly. It still hurts in the same spots. But that’s not what they want. They did what they know. Now they want it to be better.
I have to be here with Meghan tomorrow, but there are a few of them that could stand to attend the PD on the “Productive Struggle.”
Goodness, work for it people. It’s not always easy.
But she’s young. And she’s bright. And she’s frightened. And she’s worth it.
So here we sit. Again. For the second time post thyroidectomy, we are in the hospital. The girl doesn’t feel well. She just doesn’t. End of story. But, not too many people seem ready to listen until she’s in a full on physical crisis. Even then sometimes the numbers are frighteningly low. Yesterday she knew. She NEVER tells me to stay home from work. She KNEW. And my pediatrician heard it in my voice. She was admitted soon after he saw her. He wanted it to be the flu. In some ways I did too. A little Tamiflu and some rest. Buts she’s negative for flu. No real surprise. Too simple a diagnosis for my girl. Since her surgery in February, her TSH (Thyroid Stimulating Hormone) which is supposed to rest somewhere between 4. and 4.0 has been lingering well over 10, despite numerous medication adjustments. The TSH is supposed to be down regulated when the synthetic thyroid hormone takes the place of the T4 and T3. Enough thyroid hormone and the TSH decreases. Not enough and it increases causing hypo (under active) thyroid symptoms which can range from bone crushing fatigue, to generally feeling unwell and a whole host of issues in between. He medication has been adjusted upward with no effect – several times. I know it takes time. I barely remember my own battle with thyroid hormones over 20 years ago. The veterans of this surgery tell me 6 months, a year… I get it. I do. But then there is the reality of watching your kid feel crappy every day. The reality of watching her FIGHT with all her might to do the normal things others take so easily for granted. And then I get impatient. To complicate things it may not just be the thyroid hormones keeping us hopping. That “lymph node” turned “salivary gland” is now back to a lymph node in the neck. We are awaiting the ultrasound that I feel should have been done with her appointment last Monday. And there is a fever. She never gets fever. Not really. And yesterday it was 102. Today around 100. No answer why. Not even the White Blood Cell Count gave a clear indicator. And the reflux. Painful. Like fire. Lack of desire to eat much of anything leads to weakness. And the throat clearing. Reflux? or lymph node? or something totally different? So we temporarily stopped the celebrex to try to solve the GI issues. The medical equivalent of robbing Peter to pay Paul. The joint pain – managed for now – is rearing its head. And why does a 10-year-old, with no gall bladder and a week of the worst reflux of her life – with no dietary changes – begin vomiting bile? Maybe just maybe we will meet up with a decent GI. Girls can hope. So I sit. We sit. Waiting for answers to questions. Waiting for answers to more questions than we will ever get. But we are hopeful. Anxious. At least right this minute the worst part of being here is passing the time with the stupid IV.