#beatingcowdens Goes to College!

Published on August 25, 2021August 25, 2021 by beatingcowdens10 Comments

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

There is a whole lot of new.

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

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

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

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

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

I have learned from all of you.

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

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

We remain #beatingcowdens

Forever…

Published on July 20, 2018July 20, 2018 by beatingcowdensLeave a comment

When I married my husband I committed to forever. It was a good call.

When we decided to have a child, we understood she would be our baby forever. No regrets.

But some time in the fall of 2011 a doctor diagnosed both of us with a rare genetic disorder. This forever, well, this one we did NOT sign up for.

At first there was no time to process the concept of forever as it connected to Cowden’s Syndrome. There was too much to do.

Neither of us had an “easy” medical history, so putting a name on it had its pros and cons. But, we were handed lists of appointments to make and things that suddenly needed immediate attention. We were quickly schooled on tumor growth and cancer risks. We were told to remain vigilant, and that we would be “fine”.

There was no time to process as 2012 had a traumatic thyroid biopsy in January and an embolization for her Arteriovenous Malformation (AVM) in her knee in February. Then, there was my double mastectomy and my “surprise” cancer diagnosis in March, followed too closely by my hysterectomy in May. And soon after that hysterectomy, Meghan had breast, pelvic and kidney and bladder sonograms. There was also another MRI of the knee, and two thyroid ultrasounds that brought in 2013 with a surgical thyroid biopsy.

2012 was salvaged largely by a third grade teacher who I swear was an angel placed in our path. Because there was real life too. There was work, and school, and activities, and appointments that were quickly starting to overwhelm.

There was probably close to 2 years after the initial diagnosis before I even looked up. And, when I did I had a whole host of emotions.

Forever had taken quite a toll on my girl. Tough as nails. Driven. Strong. Focused. Always. But, apprehensive, concerned and full of worry she was way too young to have to shoulder.

Forever. I did my best to keep as much “normal” as I could. Early therapists cautioned not to let the disease “define” us. I kept the schedule delicately balanced between the necessary medical screenings and the “fun” activities. She needed to be “like everyone else”. So there was swim, later theater, some voice lessons, all interspersed with surgeries too many to recount again. Some traumatizing, some annoying, some isolating, and some worrisome. All time-consuming. Some required physical rehabilitation, and others emotional.

Forever. The highway became our bonding place. She could read and do some homework in the car. We scheduled appointments on holidays as often as we could. We scheduled appointments after school. It made for some long days- often traveling 2 hours each way, and waiting forever in the offices- but we did it to preserve school attendance, and to keep her at as many activities as we could.

Forever. She grew up. Not just physically, but mentally. She has broad shoulders, literally from hours of butterfly, and metaphorically from carrying way more than she should at her age. The knowledge that this is her forever is difficult for all of us. We make the best of it. We talk about how grateful we are to know what to look for. But, that gratitude, while sincere, can never replace the innocence of youth. Innocence lost. Forever.

Forever. The wait time at most appointments is close to forever. No one typically knows what to say to us. They look at what they need to. They offer some empathy, sometimes. Then, sometimes out loud, and sometimes in their heads, they show gratitude that they are not fully responsible for us. We wait hours and hours so often. We have learned patience. We have learned to quietly accept that if they “google” us before, it means they actually care. We are rare. We are 1 in 200,000. This diagnosis is forever.

This summer we have already gone to our 16th appointment between us. There are 4 more just next week.

Yet, this summer she performed with a wonderful, talented, warm and welcoming group of young people at Staten Island Children’s Theater Inc. in a production of “Legally Blonde Jr.” They like her. Some of them know what she does with the rest of her life, and others don’t, and it’s all okay there. They give me hope that some people, teenage people and adults as well, are just good people.

She has been at swim practice most mornings between 6:15 and 8:15. She has spent this week in small group lessons for swim from 8:30-3.

She has accomplished a good deal of her summer work for school. She had peppered in the appointments in the crevices hidden in the schedule.

Forever. The reality is not lost. But, I am so proud. So proud of how hard she works to stay in this world, while living in the world of chronic pain and rare disease. It is hard work. She does it pretty gracefully most days.

Forever. Perhaps I could use a lesson or two from her.

Somewhere in the midst of this medical whirlwind we live. Somewhere in the midst of working full-time, and managing surgeries and appointments, and life as it happens to all of us, I have lost track of myself.

Forever. I have one speed. I operate in constant motion, or I am asleep. There is rarely any middle. The yellow legal pad is to the right of my computer, capturing every thought. The iPhone calendar alerts me to the plans of the day. My house, although not as clean as I’d like it, is in constantly good order. It is a control issue. I will own it. There is so much flashing by in the blink of an eye, I can be sure to get the dog fur off the floor once a day, and know that it actually got done.

Forever. I’ve lost touch with most of my friends. Life is busy, theirs and ours. There are only so many times you can tell the same story to people. Our story could be recorded. It just repeats itself. Doctor, testing, surgery, follow-up, rehabilitation, next body part, routine appointment, maintenance, worry about a potential problem, 6 months to watch it… I used to have other things to talk about. Now I would be one of those people I used to laugh at on night-time TV. I am so out of touch with the world. My experiences are significant, but without variety. They are heavy and too much for most people to hear. There are no answers.

Forever. The summer will pass. We will force in a vacation and we will hold those days to be without doctors, and without summer assignments. Then, we will do our best to put our feet in sand once. Just to listen to the water. We will try to get a few people to swim in our pool, so the activities of opening and closing it are not totally futile.

Forever. Life is busy. Too busy. And that’s not just a Cowden’s Syndrome thing. I heard of three deaths this week. All three tragic. One at age 19, one at 31, and another a bit older. Tragedy. They had plans. They did not think their forever was going to end this week.

Forever. My conscious mind doesn’t need but a split second to list dozens of real and significant blessings. There are countless things in my life that bring me to my knees in gratitude. But, the inner conflict is strong. With the knowledge of the wonder and beauty in my life, I should be able to take this diagnosis, this “Forever” that is Cowden’s Syndrome, and put it in its place.

Forever. The struggle is real.

Forever. Stopping to find the moment, and to embrace the joy right now is not as easy as it sounds. I can talk the talk better than anyone. The raw truth is that I can not always walk the walk.

Our Cowden’s sisters and brothers span the globe. Estimates are about 1,800 of us are in the United States. I do not know the world numbers. I know some of the people though. One in Australia just underwent 2 MORE brain surgeries a few weeks ago. Another, a teen who is with her Mom in Cleveland right now is waiting for news that is surely churning mom’s heart.

Forever. It’s such an arbitrary concept sometimes. I became a wife with the intent of forever in my heart. I became a mother with that same intention. But Cowden’s Syndrome threw forever at us. It’s got the same dictionary definition, but not the same feel.

Someone asked me recently why I can’t just take time off, or block my appointments so we have “breaks”. The truth is, I try. Doctors want what they want in terms of follow-up, and being vigilant means I need to comply. Most visits run us a minimum of 4 hours round trip. Many can not be “stacked”. I have a full-time job. I have a high school honor student. We need to be at work and school. I suspect those who ask are just trying to help. But, it makes me feel like maybe if I just tried harder…

Forever.

It took me 7 weeks to write this post. My attention span is not what it used to be. I have a whole lot of reasons to keep making this work. Forever. I am blessed. I am grateful. I am tired. I am human.

This blog was started in hopes that people stumbling upon it would read the story of a real family, fighting the same thing they are. With that comes real, raw, and honest emotion.

Forever is beautiful when you connect it to things you signed up for.

Forever is not so easy when it connects to a rare disease that wants to grow things throughout your body.

Forever. It is promised to none of us, that forever will last longer than today. It is our decision what we do with the gift of the time we have.

I am a work in progress. I am a wife. I am a mother. I am a survivor. I am worth the hard work.

Today I will start by opening all the blinds. Time to look at the sunshine. Time to look at the blue sky and the flowers. Time to breathe. In and out.

One step at a time.

We will remain

#beatingcowdens

Forever.

N.O.S.E. an Acronym that Makes Sense!

Published on June 9, 2016June 9, 2016 by beatingcowdens2 Comments

So many things in life make no sense at all. I don’t need to fill in those blanks for you. No doubt you have a bunch of your own things in mind.

The illogical is part of our existence here. What we do with it is what defines us.

Meghan’s right foot stopped growing a few years ago. I didn’t notice for a little while. She was already wearing a size 9 in the 5th grade.

She had had 5 surgeries to embolize an AVM (arteriovenous malformation) in her right knee. At some point they theorize that by slowing the blood flow to the AVM, the blood flow to her lower leg and foot also slowed, stunting its growth.

Now, on the surface that may not sound like a big deal, and I guess for a while it wasn’t. Most people have feet that are slightly different sizes, many a half-size off. Most people are still able to fit them into one pair of shoes.

But the left foot kept growing. Right now it’s stalled at a 10. We can’t be sure it it’s done.

The ramifications of this began to have far-reaching effects. The different foot size adjusted her entire stride. The smaller foot is weaker, and naturally over pronates. There began to be back and shoulder pain…

There was one more knee surgery last May – to clean out some residual blood and quarterize a few spots in the knee-joint. That proved to make the knee even a little weaker.

There came a point where each foot needed its own pair of shoes.

Keeping her in a pair too big would compromise the weaker AVM leg. Putting her in a pair that was too small was just impractical. So we began to buy shoes in a 9 AND a 10.

Now we consider ourselves fortunate to be able to buy two pairs of shoes at a clip. We have only one child, and I find good shoes to be a wise financial investment. Buying the two pairs is never what bothered me.

My trouble came with what to do with the other shoe.

I threw some away, but that didn’t feel right.

People, not thinking it through, directed me to odd shoe websites. But, the odds of me finding a perfect match were slim to none. It didn’t make sense for us.

So, the shoes began to stack up in the basement.

Some internet searching brought me to National Odd Shoe Exchange (N.O.S.E,) And a million bells and whistles went off. Here was a real, 501c3 charity that accepts “in kind,” or actual SINGLE SHOE donations. They pair them with actual people. They work with amputees. They work with real people, registered in their database, and they send them shoes! History of NOSE

And, since they are a registered 501c3, our donation, as well as any postage, are fully tax- deductible. An added, unexpected bonus.

So, today I mailed a box to Arizona.

In it were three “pairs” of shoes. 10s for the right, 9s for the left, just the opposite of my girl.

And somebody, somewhere, or maybe even several “somebodies” will benefit from Meghan’s adversity.

It seems almost ironic that as I write tonight we are nursing a left shoulder that “froze” today, more than likely the result of the
“off sides” stride.

It locked up in the pool. During the last practice before the big meet this weekend. She has trained so hard. She fights every obstacle head on.

Feisty. Tenacious. And in pain.

Tomorrow there will be more ice. More stretching. More anti- inflammatories.

There is no pause for this young lady. Life keeps careening from one obstacle to another. Yet, she walks straight and tall and with her head high through it all. Counting her blessings. Growing up too fast.

So many things make no sense at all.

But for us, tonight, the knowledge that in a few days time 3 “pairs” of brand new shoes will be available to someone…

Well for us, that is a bittersweet way to find some sense in this big mess.

#BEATINGCOWDENS

#ONESTEPATATIME

Gratitude

Published on November 26, 2014November 27, 2014 by beatingcowdens4 Comments

Gratitude.

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”

https://beatingcowdens.com/2014/11/17/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.

This is about 50ccs of water - roughly the same amount of blood that filled her knee joint. — This is about 50ccs of water – roughly the same amount of blood that filled her knee joint.

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!

Future Doctor, Meghan

Published on August 20, 2013 by beatingcowdens9 Comments

If they would just listen to Meghan.

I mean really listen, and stop dismissing her.

Since before she could talk we have been working to help this kid become more aware of her body. She can troubleshoot what works for her. She can tell me what foods and medicines help her or hurt her. Every day she becomes more keenly in tune with herself. Its necessary. That is how we keep her healthy.

My heart always gets heavy for my friends whose children, despite everyone’s best efforts can not articulate their needs, pains, desires, or emotions. Those are the situations where doctors might miss something- even if they are trying. Those poor children might suffer needlessly if no one can determine the source of their discomfort.

But not Meghan. If you will listen. She will tell you. If you pay attention. You will understand.

If she hurts- the whole world might know. If she doesn’t hurt anymore, even 5 minutes later, its like it never happened.

That’s it. Plain and simple.

So when she hurt her hand June 4th, I kept waiting for it to get better.

I played tough for a few days, but it still hurt.

Then we tried ice, heat, brace, no brace, different brace – but the pain persisted.

Dr. Jill, our Physical Therapist kept saying, “I think it’s vascular.”

Meghan kept saying, “It pulses like my AVM.”

And on we went – to the vascular surgeon, for the MRI/MRA, to the orthopedist, to the local hand surgeon. Each one finding a reason to dismiss her, and this pain that persisted.

Pain doesn’t persist. Not like this. Not with her.

And, when you have Cowden’s Syndrome, any pain that persists more than 10 days consistently really should be evaluated. You never know where those tumors may grow.

But the MRI, the three hour MRI with 4,000 images was negative. (Although I still have my doubts.)

And, Meghan calmly told the vascular surgeon she thought it was an AVM. He said no.

As the pain mounted over the weeks that followed, and we bounced through other routine follow ups that seemed to swallow up our summer, Meghan took solace in Dr. Jill.

You can’t put anything over on Dr. Jill, but she knows kids, and she knows Meghan.

“Look at this,” she said to me. “It has its own blood supply. That’s why it stops hurting when she puts pressure on that mass. She is cutting off the blood supply.”

Meghan would smile, knowing she was understood – at least by someone.

“Vascular pain goes up the arm, orthopedic pain doesn’t,” she would almost mutter to herself.

And I knew if they were BOTH sure, then I was sure they were right.

I emailed her oncologist, and her genetecist. I sent them pictures. “Biopsy those,” I was told in no uncertain terms.

So Dr. Jill wrote a detailed professional letter to a local orthopedist. I am still not sure he understood all the words.

Then there was the local hand surgeon, who read the letter, and just spent the visit looking perplexed and bothered. The MRI report was negative, his Xray was negative, and there was this bump below her middle finger. He sent us away – apologizing for not helping, but convinced there was no need for surgery.

That was the day Meghan coined the phrase “Donkey Butts!” And I couldn’t blame her.

I went right home from that visit and sent a desperate EMail to the oncologist again. This time I asked for a referral.

She is a woman of few words. Her reply was a link, and the words “Go here.”

So, I called and made an appointment. They took our out of network benefits. We got in the day before vacation.

He looked at Meghan. He talked to her. He sent her for more Xrays. They were negative. Then he looked at her hand again. He told her that he knows all about kids and how well they know their bodies. He told us he treats a few boys who grow bone instead of soft tissue tumors. He told her that the boys ALWAYS know where the problems are. She brightened.

Then he drew a very logical picture of the hand, and traced out the main ligament and tendon. He showed the connection from the soft tissue tumor to the painful wrist spot. He let her feel it, and he told her she made sense. She smiled a huge smile.

Finally a doctor who DIDN'T remind me of this one! — Finally a doctor who DIDN’T remind me of this one!

The he said to us that even though the Xray is negative, sometimes surgeons have to use their heads. Clearly the tumor on her hand was causing trouble. Clearly it had to come out. Exactly what that would mean once he got in there would have to remain to be seen. Relaxed and encouraged that someone was using their head, we scheduled the procedure and left for Disney.

Disney had its ups and downs, and one of the struggles was the frequent hand and wrist pain. Meghan is in pain so often, she can differentiate between the chronic pain, like her hips and knees, and the pain that she can’t stand, like her wrist and hand. Chronic pain is absolutely exhausting.

Today was the surgery.

We went to a LOVELY outpatient facility on 42nd Street. The place was clean, the reception was smooth and effortless.

The nurses were darling, every one of them.

The anesthesiologist instilled comfort, and the surgeon, Dr. R was warm and calming.

The procedure lasted longer than I expected – almost an hour and a half.

I wasn’t surprised to hear the words that have become normal. “It wasn’t exactly what I imagined, but I am pretty sure I got it all.”

A soft tissue tumor, with roots, AND an AVM (arteriovenous malformation) with its very own blood supply!

So many thoughts went through my mind – including, “SHE KNEW IT ALL ALONG!,” and “THANK GOD FOR DR. JILL!”

I was grateful for Dr. R, his patience, his trust in Meghan, and his ability to get it done. I was also instantly tossed into a new level of worry. See, all along they have been insisting the AVM in the knee was an isolated incident. I shouldn’t worry about more cropping up. Well one just cropped up. Game changer.

I was thinking about the rock wall she climbed June 4th, and even after all this turmoil, I am still glad she did it. Although we now almost undoubtedly know that the AVM was under the surface all along, and the bruising her hands took caused her body to “hyper heal,” and likely led to more blood being pushed towards the AVM. The soft tissue tumor erupted some time later.

While the exact sequence of events doesn’t matter, a few things do.

Meghan and Dr. Jill are really intuitive.

AVMs can take place in multiple spots.

Dr. R had to scrape the scar tissue off the ligament, and tendon and nerve in the hand.

Meghan will need quite a bit of therapy (after 9 days of keeping the hand wrapped) to get her mobility back.

I absolutely can not wait to get the pathology report and share it with a few doctors who blew off my girl.

And, most importantly – NEVER DOUBT MEGHAN!

Moving at our OWN pace

Published on July 10, 2013 by beatingcowdensLeave a comment

Two weeks ago today we left for the last day of school. Seems like an eternity, although not a restful one.

Today was the first day I woke up with nowhere to be, and nothing to do. Our first mandatory stop is swim practice at 5:30 PM. So I sit, nursing a cup of green tea, and trying to convince myself, on my health quest, that it is just as good as the caffeinated hot cocoa I have been drinking for years.

This morning I woke when my body told me it was time – somewhere around 8:15. What a blessing to open your eyes because you are ready.

I tended to the garden. I watered my tomatoes, peppers, eggplant, cucumbers, and I even picked a ripe zucchini. I watered the flowers on my deck and I marveled at the calm beauty of the neighborhood at 8:15 on a Wednesday morning.

Not my plant - but you get the idea! — Not my plant – but you get the idea!

Now, to all you teacher critics out there- I recognize ten weeks of unscheduled time is a gift. I understand its not “the norm,” and I AM grateful. But to all you who are realists, I try not to be much of a complainer, but this schedule we are keeping is far from a walk in the park.

Even as I reflect just on yesterday, and then the last week, I can easily find myself overwhelmed.

The rhuematologist confirmed that the Celebrex is necessary. On the up side she said, at least the liver seems to be handling it well. Yep, on the up side I need to worry about my almost 10 year-old’s liver? So we have about a 50/50 split, and that’s just the doctors we like – touting the pros and cons of Celebrex. Take her off. Leave her on.

I love them all, but ultimately the pain decides for us. This child is accustomed to pain so deep that the 20 laps of butterfly she swam Monday – when I expected her to be barely able to lift her arms Tuesday – caused her to need only “an extra stretch.” But the pain in her wrist right now – that can knock her to her knees. Celebrex it is.

So I read articles from the oncologist last week about “angiogenesis” http://childrenshospital.org/newsroom/Site1339/mainpageS1339P356.html

I try to absorb medical jargon about why the Celebrex helps the pain – but doesn’t cure it. And why it may even help prevent the Arteriovenous Malformations (AVM) from flourishing.

I read an article she gave me on “prophylactic thyroidectomy” and its benefits in Cowden’s Syndrome patients.

I read about “Long Chain Fatty Acid deficiency” and heard about the possible need for a muscle biopsy to assess carnitine levels.

I am an educated woman, but I sometimes wonder why I seem to spend more time in medical journals than educational ones. Did I miss my calling somewhere along the line? Probably not, but “necessity is the mother of invention.”

And yesterday as she was examined by the rheumatologist there came the confirmation that the right wrist is “thicker” than the left. A month and 3 days after what we thought was the “injury” to the wrist, it isn’t better. Not really at all. So she said, definitely get an MRI.

We are on it. 11AM Saturday. We already cancelled the birthday party we were going to.

She wants a copy of the report – ASAP. She expects they will find something. I went to make my six month appointment, and she told me to hold off until after the test results.

I look at the piles on my desk. Better since the shredding is over. I glance at the order confirmation for my new driver’s license, and can’t help but wonder where the old one ended up. I look at a beautiful collage Meghan sent to the printer last night as I was working – just to make me smile. I look at the books for the “Teacher Effectiveness Training” I will be attending tomorrow, and the flyer with the itinerary for the Disney trip. Its right alongside the Costco list, and the original copy of the Myriad genetics report that I don’t have BRCA 1 or2. Obviously I still have a little more work to do down here.

Monday I went for my MRI. The one that checks my spleen. Next Tuesday I have the appointment to find out if I can keep it. Already covered the endocrine surgeon, the gyn oncologist, the I just need the breast surgeon and the plastic surgeon, and my oncologist to have their visits. It’s easy to forget that I am even part of this Cowden’s Syndrome mess.

My focus is on the beautiful one with the curly hair, who gives the best hugs in the world. It will be a long week – again. So for today, I will try to slow it down. The sun is shining. It’s July. And we don’t have to go to work OR the doctor today!

Meghan Speaks Out!

Published on February 25, 2013 by beatingcowdens8 Comments

Maybe tonight I would have to call Meghan the “Guest Blogger.”

What you read below is her speech. She was asked to prepare something to read for her school for “Rare Disease Day” on Thursday. She is an excellent public speaker, and fights only a few “butterflies” before she speaks. She always makes me so proud. I wish I could be there!

The text of the speech was written by her. I typed it, and then she went back in and changed it again. I added the pictures… just for here – because I like to!

She will review the speech with her principal tomorrow, but I don’t expect many changes.

When did my baby grow up?

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Some of you, who know me, know me as Meghan Ortega. Or, maybe you know me as Meghan from 4^th grade, or Meghan from Mrs. Worsdale’s and Mrs. LaMonaca’s class.

You might, if you know me a little better, know me as Meghan who loves to read, and swim. You might know me as Meghan who loves dogs.

Maybe you know that I have 2 dogs that I love, and a mom who is a teacher and a dad who is an electrician.

Lucky, Meghan and Allie - My three girls — Lucky, Meghan and Allie – My three girls

But, until today, very few of you knew that I am Meghan Ortega and I suffer with a Rare Disease called Cowden’s Syndrome.

Until September of 2011 I didn’t know I had this Rare Disease. What I did know was that something was wrong and my body was far from that of a “normal” kid.

For as long as I can remember, every week of my life has included AT LEAST one doctor’s appointment, and lots of times even more.

You’ve all been to the doctor and you know it’s not fun. It involves waiting and waiting…and even more waiting. It also involves poking and prodding. For me, it often means being sent to more and more and more doctors…

My mom says when I was a baby I wasn’t really comfortable, and I cried all the time. I almost never slept, and wouldn’t drink my bottle.

When we talk about it now, we think my body knew I couldn’t handle dairy products, and dairy is in milk.

Mom also tells me that I started seeing lots of doctors when I was just a few weeks old. Soon there were doctors to check almost every part of my body.

I have had 9 surgeries. I remember having my gall bladder out before I turned 4. I also had a lipoma (a soft tissue tumor that people with Cowden’s Syndrome get.)

I had knee surgery 4 times for an AVM in my right knee. An AVM is a vascular malformation. It is also common in Cowden’s Syndrome. It feels very strange because it pulses like your heart beat. Every time I had that surgery the doctor thought I wouldn’t need another one. But they have already done 4, and they are not sure if the AVM will ever go away, so I will probably need more.

Because I am in pain so much, I get physical therapy in and out of school. My outside physical therapist, Dr. Jill told Mom that she should take me to see a geneticist. I didn’t really understand what that was, but we went because that is just what I do.

Dr.Pappas at NYU was really nice. He examined me and he talked to me and mom. When he was done he drew some blood. He said he was pretty sure of what I had, but we had to wait for the test results.

In September of 2011, just as I was starting 3^rd grade, we went back to his office and he told us that I have Cowden’s Syndrome. It means that my PTEN gene is broken. Your body is made up of all sorts of genes, but these are G-E-N-E-S, not J-E-A-N-S like the ones you wear. PTEN is the gene that keeps your body from growing tumors. Because mine is broken I get more growths, like the AVM, the lipoma, and the nodules on my thyroid that I have to have checked every 6 months.

As soon as I was diagnosed, the doctor talked to my mom and said she probably had Cowden’s too. He took her blood and a few weeks later she tested positive.

Because of the Cowden’s my mom had lots of tests done, and it explained a lot of things about the 17 surgeries she has had. On March 5^th it will be a year since she had surgery for breast cancer. She is just fine. She says that knowing she had Cowden’s helped her find it early. She says to everyone that my diagnosis saved her life.

When I am here at school I smile a lot. I don’t like to dwell on anything bad. We spend enough time with doctors so I try to enjoy my time with kids.

You would probably never know by looking at me, that I am in pain a lot. I take medicine every day that helps my joints hurt less than they used to, but still most days I have pain. It is hard for me to climb up the stairs, and play at recess, but I do it.

We first heard about “World Rare Disease Day” last year, but at the time we were a little too stunned to do anything about it.

This year I told my mom I wanted to do something to make people more aware of Cowden’s Syndrome and all rare diseases. I was not ready yet to do a fund raiser – I just wanted to get the word out that Rare Diseases like ours exist. There are over 7,000 of them!

I shared my idea with Mrs. Manfredi and she said I could give out the ribbons and information you received today. I was really excited.

“Hope it’s in our genes” is the motto of the Global Genes Project. They try to raise awareness and find cures for all rare diseases.

Today I think it’s important for you to know you can’t ever really judge someone by how they look on the outside. You never know what’s going on inside of them.

Be kind.

Be aware.

Rare Diseases are everywhere.

Thank you

** By Meghan – Age 9!