Lemons

Published on July 23, 2013July 23, 2013 by beatingcowdens1 Comment

Generally I try to be a pretty positive person. But really I have to say this is getting a bit ridiculous. I am starting to wonder if I am doing something wrong. I mean everything feels like a project, every situation an issue.

Its no small wonder people sometimes tire of talking to me. I tire of telling tales over and over again. Really, I am not a big fan of drama at all.

And yet, as the precious weeks of summer tick by, and one obstacle after another seems to end up in our path – today I did feel like squeezing some of our lemons in a few people’s eyes.

My constant awareness that it could be worse; my attentiveness to the struggles of others is what keeps me grounded, but it may be even more exhausting. The prayers for young babies, and new mothers, the prayers for families who have lost young loved ones to tragedy, the prayers for the young children who are ill, the prayers for my grandmas – all three of them dealing with their own health issues… and the list goes on. I DO know it’s not just us. But sometimes when it seems to be one lemon after another, I get tired of ducking.

I know the saying about lemons, and an old cliche is good now and again…

But sometimes it just doesn’t cut it.

Sometimes lemons are, well – just sour.

My girl has been complaining of her wrist and hand since June 4th. I remember the date very specifically. And it has been a long 7 weeks. The last few weeks of school she could barely write. We tried braces, no brace, resting, ice, heat. Nothing. The pain gets worse. Then the MRI says normal and I want to spit. (Lemon juice in someone’s eye!) Now we wait while the MRI gets reviewed again, and its time to have a surgeon look at what appear to be soft tissue tumors (at least 2 of them) forming on her hand. One has been there since – forever. The other appears to have grown in size in the last 72 hours. I am not surprised they didn’t show up on the MRI.

This is the same child who took 7 sonograms to have her gall bladder diagnosed with “milk of calcium” and after three “negative” sonograms for the obvious mass growing out of her back years ago – the surgeon decided to trust his instincts and ended up removing a sizable lipoma.

This kid breaks all the rules.

And that’s before we even get to the ramifications of the diagnosis of Raynaud’s Syndrome and its implications made off the MRI. ( I guess that means it was … almost normal?)

So tomorrow I will call an orthopedist to check on insurance issues and to see if they will take a look at this kid. (This one comes HIGHLY reccomended! :-))She certainly can’t start 5th grade unable to write, and this can’t go on forever. So, another doctor it is.

It should be easier to get to the doctor after Enterprise picks me up at 10 tomorrow and sets me up with a rental as my relatively NEW car spends one too many days at the “car doctor” who seem unable to fix the problem either.

This is how long I waited on hold – before I hung up the phone and drove there myself…

All this as we clean out the attic to prepare for the new roof to be installed in a couple of weeks, and we wait for the people to call us back about the class action lawsuit that somehow explains the water damage and dry rot in our bay window.

So if I stay stuck on the lemons I may lose perspective, and God knows I need that to get by. Instead of wishing troubles away I pray for the stamina to continue to endure, and endure. Wouldn’t trade my life for anyone’s. But, God give me strength to find the rainbows – even in the lemons.

And as I organize my paperwork – constantly – tonight I write a check to support “Alex’s Lemonade Stand.” And I pray for all the parents faced with cancer in their children. It strikes fear in my core, so I do whatever little I can- knowing all too well we can all be tossed into places we would never venture to on purpose.

And as I reflect on today, I guess it was a success. We did get into our much underused pool for some mother/daughter time.

And when all is said and done, and I have had a few glasses of cider, and I can sit down and regain my perspective – I have a pretty cool kid. This Cowden’s Syndrome thing – it really sucks. But its such a part of us now, that I can’t imagine giving it up. We are not defined by it, but it is a part of who we have become.

So in the interim, for those of us who by bilateral mastectomy have gone from a size C to an A cup – maybe this is a more appropriate way to view those lemons.

Couldn’t hurt. Might help.

Keep laughing. Keep swimming. It’s all we’ve got.

Normal?

Published on July 19, 2013 by beatingcowdens4 Comments

Really?

Normal.

That’s it?

Normal MRI.

Three hours, two different magnets, three doses of contrast dye.

Six days of agonizing waiting.

The vascular surgeon called this morning.

I want to be happy.

I want to be relived.

I want to be sure I believe he pored over the images on the disk and didn’t just read the report.

Unfortunately I can not be happy, or relieved, because there is pain. Lots of pain.

When I told Meghan about the conversation she got angry.

I cried.

I don’t know how to help her except to keep pressing and pressing for answers.

At least she knows I believe her. I suppose that’s more than some kids in her boat have.

But still its hard.

There is no diagnosis.

There is pain.

She has work to do.

Writing is agonizing.

Swim practice certainly doesn’t help.

What do you do?

I can’t take away everything she loves.

I can’t absolve her of responsibilities – even when I know they cause pain.

I called the rheumatologist. For a small fee I sent her the CD too. It’s only money.

Maybe she will look harder.

I feel like I have been beaten up.

I spent the afternoon writing a letter to the corporate office about chronic inconvenient car problems.

Really I am tired of all this fighting.

Can’t we all just get along and do the right thing?

No words of wisdom today. Today we do it Dory’s way…

My Wish

Published on July 18, 2013 by beatingcowdens5 Comments

I have been quiet this week. That in and of itself is unlike me.

I am tired – well bordering on downright wiped out.

There are a few more weeks of summer to go, and aside from a well planned Disney Trip, set in place in January – there seems to be precious little to look forward to.

Meghan has a short list of “have tos” which I plan to do EVERYTHING in my power to work out for her, but really every effort I made to keep this summer better – to “streamline the doctor visits” seems to have failed miserably.

Today she began her summer homework. While it is reasonable, it is one more thing on a list of “have-tos” for a kid that just wants to be a kid.

There is no camp for Meghan. It is all doctors appointments – all the time. And when it is not her appointments it seems to be mine. She is swimming three nights a week on a new team, at least she is LOVING that – but we have barely been inside our previously overused pool.

And its funny, while she and I have both had appointments of almost equal number in the last few weeks, I feel so much less stress about mine.

The geneticist the endocrine surgeon, the gyn oncologist, the abdominal MRI, the plastic surgeon, and the oncologist. The spleen survived its next cut – and can live for another 9 months. The 3.5 cm roundish lymphangiomas are stable. That’s all we ask for now. The thyroid lymph nodes – not suspicious enough to biopsy.

The plastic surgeon, well the LOVELY woman offered me a boob job to correct the “asymmetry” caused by me shoving the reconstruction all into one day. Not this year, but thanks. Good to know the offer stands indefinitely. For now, I have other things to do.

So I have only one more of my appointments lingering, a late July follow up with the breast surgeon. I thought of blowing it off and then realized how dumb that would be – for so many reasons. So, I will go.

But Meghan’s appointments, those are the ones that keep me up at night. Those are the ones that strike fear and anxiety in the core of my soul. My heart beats outside my body in this little girl. I can not sum up in any number of words the depth of my love for her.

So to say this summer, and especially this week has been sheer hell would be the understatement of the century.

Her appointments began the day after school ended. The lengthy thyroid sonogram bought us another 6 months. The pituitary function test was a train wreck, but the call this week claims the results were OK. I want to feel more relieved. But its hard. I am waiting to read the report myself. “Doubting Thomas?” Maybe. Realist – probably. Something is not quite right, but at least its not SO wrong it has to be addressed today.

The geneticist began to speak of carnitine issues, and I am waiting to hear of a possible muscle biopsy. In the interim I bought carnitine. Lets see if we can cut that one off.

The vascular surgeon examined the wrist, painful since early June, and the knee. He wants an orthopedist on board, but wanted me to consult with the rheumatologist about the wrist, and then scan the knee that had the 4 surgeries, because its been over a year. The rheumatologist concurred on the MRI studies, so we went forward with the wrist first.

Saturday, as I wrote about previously was hell on earth. I have been through a lot of MRIs with this kid, and the behavior of the two techs scared me to my core. I was assured upon exit, that the results would be available to my doctor Monday that passed. Well multiple calls, over the course of Monday and Tuesday led to a promise the results were being released Tuesday. “It’s a complicated read Mrs. Ortega.”

Wednesday morning – still nothing at the vascular surgeon’s office, only to find the CD and report left by courier at 10 am. They will make it by 3 I was told.

A return call to the surgeon’s office at 4:15. “They just got here, but the doctor is gone – emergencies. He should be able to look at them tomorrow.”

Some time around 4 AM my daughter climbed into bed between my husband and I. She had been awake long enough to finish her book, but she just couldn’t settle over the pain in her wrist. At about 6:15 this morning she nodded off. I tried desperately to find my peace.

And all day today, again, I held my phone. We skipped the pool in between the “have tos” of getting the oil burner cleaned and our annual trip to the dentist (normal stuff.) I refused to be far from my phone. But as minutes became hours, my hope dwindled.

A call to the office at 4:30, “Sorry, he never made it in today, but Meghan’s chart is on top of his desk. He has office hours tomorrow.”

Six days.

Unnecessary torture.

Six days.

Wondering, worrying.

Even if the report – by some freak of nature reads “normal” I can’t even be pleased, because the pain is not normal. It is real, and it is consistent, and it has gone on too long.

I wish for a lot of things in the world.

I wish for children and their parents not to suffer with illnesses or adversity of any kind.

I wish for relief for those in physical, mental, and emotional anguish.

I wish for peace in the hearts and minds of the caretakers of those who struggle.

But today I also wish something else.

I wish that EVERY SINGLE medical professional who performs a test – from what is perceived as insignificant, to critical recognizes the power of their words, and their actions. I wish that EACH of them understand what it is like to be on the receiving end of cryptic messages, grossly extended tests, and precious little reassurance. I wish that EVERY doctor who receives a call from a patient panicked about their results be PROMPT in their response. I wish that EVERY one of them, who goes to work each day and forgets that our child, parent, sibling, loved one exists will at some point in their life be on the waiting side.

I WISH for every one of them – from the techs, to the couriers, to the office staff, to the doctors- to have the opportunity to await the results of a test from someone they love dearly.

Then MAYBE, just MAYBE they will understand our torture.

Hang on Meghan. Summer is coming. Hang on.

Champions of Hope – Global Genes Project

Published on July 15, 2013 by beatingcowdens10 Comments

I received this in the mail today, and thought it was an error.

I actually Emailed the woman on the card to tell her they had made a mistake.

She assured me they hadn’t. She even forwarded me the nomination form that had been sent in on behalf of Meghan and I. Touched. Stunned. Honored. Flattered.

I talk to Meghan all the time about the blog, about the internet, and about forfeiting privacy in the interest of reaching others and raising awareness. She is all in. She is a preteen. This is the time to address internet issues all the time. I told her the other day she would only want things on the internet about her she would be proud if her family or a future boss saw. She agreed. She is proud of this, and so am I.

We are big supporters of the Global Genes Project. We wear the denim ribbon on our necks every day. (And we hope beyond hope that one day, they will sell them as an awareness raising fund-raiser!)

The winners have been chosen. I wish them all the best.

I have no idea how many people across the world received this glass block that we received. It doesn’t matter, because it won’t make it any less special.

We haven’t done much – just openly told our story. But, apparently to some, that is all they needed.

I am so grateful for the “Rare Disease” friends I have met along the way – those with Cowden’s and other PTEN mutations, and those with diseases I myself am first learning about. Separate we are weak. Together we are strong.

And to the very strong lady, my friend who I have never met, who had the love in her heart to think of us, to nominate us… well, BIG HUGS to you. You continue to make a difference every day.

2013 “Tribute To Champions of Hope” Gala

2013 RARE Tribute to Champions of Hope Gala

They will celebrate in California on September 21st. We will celebrate right here, and with them in spirit.

There are people making a difference for our “Rare” community at large. I am eternally grateful. One day, all this will change… (source) http://globalgenes.org/rarefacts/

RARE Facts and Statistics

Statistics and Figures on Prevalence of Rare and Genetic Diseases

Although rare and genetic diseases, and many times the symptoms, are uncommon to most doctors, rare diseases as a whole represent a large medical challenge. Combine this with the lack of financial or market incentives to treat or cure rare diseases, and you have a serious public health problem.

Here are a few statistics and facts to illustrate the breadth of the rare disease problem worldwide.

There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day
30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population
Similar to the United States, Europe has approximately 30 million people living with rare diseases. It is estimated that 350 million people worldwide suffer from rare diseases
If all of the people with rare diseases lived in one country, it would be the world’s 3rd most populous country
In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease
80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
Approximately 50% of the people affected by rare diseases are children
30% of children with rare disease will not live to see their 5th birthday
Rare diseases are responsible for 35% of deaths in the first year of life
The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases
According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment
During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined
According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease
Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease

And one day this list will be a lot shorter. http://globalgenes.org/rarelist/ (Click to see the more than 7,000 Rare Diseases)

For tonight – I will rest knowing we have helped a few people as best we can, and that we have raised awareness of a few others. I will rest knowing that while I endure the agonizing wait for the wrist MRI there are people working so that one day these Rare Diseases will be a distant memory.

I will rest thinking of my daughter – the future geneticist. One who WILL make a difference!

Bravery/ Courage

Published on July 13, 2013July 13, 2013 by beatingcowdens3 Comments

Bravery – Ready to face and endure pain; showing courage

Courage – strength in the face of pain or grief

It’s not a secret how I feel about my girl. It’s not a secret at all that I hands down find her to be one of the bravest and most courageous children I have ever known. She faces adversity better than most adults I know. She presses onward with determination, not drama.

I don’t mean for a minute that there is never a hiccup on the path. That would be delusional, and even unfair for a child who has yet to pass her 10th birthday. But I mean, that despite the pebbles, rocks, and sometimes boulders tossed in her path, she keeps her head up and stays focused on what matters.

Yesterday we has testing at MSKCC in NYC. We were told to arrive by 8:30 AM for testing at 9. It was to be a 2 hour pituitary function test, followed by an ultrasound at 12:30. Then we would be home by about 2.

So we woke at the crack of dawn – a nasty habit this summer – and arrived in our designated spot by 8:20. As we were meeting the oncology nurse, a truly LOVELY and compassionate woman- a representative from the doctor’s office came bustling in to tell us the medication needed to start her test had not arrived at the hospital, and should be there by about 3. She then proceeded to tell me maybe I wanted to reschedule.

Let’s say succinctly that the conversation that followed took place out of Meghan’s earshot. The medication would arrive at 3. We would have our ultrasound at 2. And everything we left the house for bright and early WOULD be accomplished, before we headed home.

I can be a calm and rational person, at the right time. But, the right time is NOT after you confirm an appointment at 4:30 PM the night before and FAIL TO SEE IF THE NECESSARY MEDICINE IS ON SITE!

So, I saw the woman off on her tasks to fix what had been broken, and I took the cues of my girl who thought, “We are in Manhattan – Let’s see Daddy.”

We took the shuttle to 53rd street and 3rd Ave. Then we WALKED to 42nd and 7th. Just in case there was even the slightest doubt that Meghan needs her wheelchair in Disney – it has officially been confirmed. The 25 minute walk each way did more damage to her legs than I could have imagined.

But, we did get to Toys R US. Meghan has been there before, as it is one of the stores her Daddy helped light before it was open, and it is so close to his office, but a toy store of that size is a huge thrill nonetheless.

She left with a Merida doll from the movie “Brave.” Ever so fitting in so many ways. I knew Daddy would have to take the Barbie size one home with him, so we surprised her with a Polly Pocket sized one when we got back to the hospital.

Why did you like this doll, Mom?

Because YOU are the BRAVEST girl I know.

The shuttle took us back to MSKCC by 1:30. We promptly bought Tylenol for legs that could barely carry her and went to endure a 40 minute ultrasound. Then it was back up to the floor for the test. The medicine arrived – barely, just barely, but it arrived in time so that after an IV was placed, and a super painful injection given – we began the 9AM test at 3:15.

And there she sat, for 2 hours, in her chair. Reading, playing with her iPad, watching movies. Uncomfortable. Exhausted. Brave. Courageous.

It may take a week or more to have the test results, and I will pray as I always do, that they return without any evidence of a problem. But, time will tell, and the waiting game is one we are well practiced at.

So as we arrived home at about 7 last night – 12 hours after we left for the day- we consumed a giant dinner prepared by Daddy, and my poor exhausted girl took some more Tylenol and fell fast asleep.

Only to be woken this morning by the ring of the alarm clock.

An 11 AM MRI/MRA of the wrist was waiting for us at 1st Ave and 38th Street. The June 4th injury never healed, and it was finally time to get some answers. The doctors we have seen all have differing opinions. AVM? Arthritis?

When I tell you I have actually lost count of the number of MRIs my girl has had, you may find that odd, but there truly have been THAT many. We have the pattern pretty much down.

We let the (hopefully) nice nurse pick the IV spot.

Of course this time, since it was a scan of her RIGHT wrist and hand, the really solid veins in the RIGHT side were off-limits. So, after two painful sticks to the left, she ended up with the IV on the side of her wrist. And even with the discomfort she was in, she listened intently as the camera was placed in the MRI room, and absorbed her directions on positioning.

My cursory question of “How long?” Was answered with “Less than 45 minutes.” It’s almost a silly question to ask because I have no watch, no radio, and no means of telling time in the room. But, somehow it makes me feel better.

Ear plugs in place, the door closed us in, and she headed into the tube. My hands remained on her ankles, and I could hear the deep breathing. It was just her and Merida inside the tube now. Bravery at its best.

It was 11:25.

It was well past 12:30 when we were told to wait it out while they ran through the images to be sure the doctor saw them.

And then it was 12:45, and some time after 1:00 we were taken to another room. Another room with a smaller tube and a stronger magnet – for a few more pictures.

This doctor, this attending, at the hospital reviewed her images, and wanted more. This doctor I will never meet, who is not the radiologist who will read the images, who somehow got called by the tech doing the exam. This doctor wanted more pictures.

So as Meghan laid on her belly in the tiny tube with Merida by her side, she sensed things weren’t quite right. I gave her an abridged version of my inferences.

Then I chuckled at her response.

If something is wrong with my wrist, how will I do the archery we signed up for in Disney?

We will make it work Meg. No worries.

And she laid, quiet and still as could be as 5 minutes became 20 before we were done.

So that’s it? You aren’t going to tell me anything? I asked the tech.

I am not a doctor was the painful reply.

Understanding they can’t, it didn’t help the growing pit in my stomach.

Your doctor will have the results Monday afternoon or Tuesday morning.

Meghan got dressed and I held her up as she limped the 6 blocks to the parking garage, an all too familiar summer scene replaying itself. It was 1:45 PM.

Last night I asked when I was going to get a break.

I take it all back.

BEATING COWDEN’S will require stamina and strength I never imagined I could have.

I will continue at this pace forever, and as I wait for the test results I will be buoyed by the Bravery and Courage of my favorite 9-year-old.

A “Guest Blogger” for our 200th Post!

Published on July 11, 2013 by beatingcowdens21 Comments

I wanted to make the 200th post of “BEATINGCOWDENS” extra special, so I asked my (almost) ten year old daughter Meghan to be the Guest Blogger!

1. How has Cowden’s Syndrome changed you?

Cowden’s Syndrome hasn’t changed me. It has always been a part of me. Knowing I have Cowden’s Syndrome has only made me more aware and more prone to understanding my body.

2. What are some things you want people to know about being a kid with Cowden’s Syndrome (PTEN Mutation)?

It’s hard not to be like other kids, but I am really glad all of the problems are found earlier than later.

3. What makes you glad you were diagnosed?

My diagnosis forced me to look at what was good for me and what wasn’t. I had to give up soccer and dance, but I LOVE swimming, and I feel like I am getting better at it every day. I am always trying to improve physically because I need to stay strong. I am glad I found a way to compete with other kids, and not always be last. I am also building swimming friendships.

4. What makes you sad/scared/ or worried you were diagnosed?

I feel more vulnerable, and sometimes a bit weaker because I can’t do everything the other kids can do. I can’t run and play outside like them. My weak immune system causes me to get more viruses, and I worry about thyroid cancer too. I try to find the positive in every negative and I don’t let worry get the best of me.

5. What is the most frustrating part of Cowden’s Syndrome?

I go to so many more appointments than any of my friends, and lots of times we have to wait forever. I keep busy at my appointments with my books, my iPad, and my Rainbow Loom. It is taking up the first few weeks of my summer vacation, and I would rather be home and bored than running back and forth to Manhattan every day!

6. Do you have any kids that you can talk to about your diagnosis?

I feel like I have three kids I can really talk to that understand. My friend Conner is in Colorado. He also has Cowden’s. He is about my age and really funny. Also, I can talk to my friend Georgia in Australia. She is also about my age, and even though we are really far away from each other, she is a very nice girl. I am glad I know her. I have been able to FACE TIME with these far away friends. Sometimes the time difference gets tricky, especially to Australia. The first time I saw Georgia it was 10PM here! We talked for over an hour!

I also have a friend on Staten Island, who I feel like I can talk to. Even though its only been a short time, I hope our friendship continues to grow.

7. What do you hope to do when you grow up?

When I grow up I want to be a genetecist.

I feel like I will know a lot about it. I also want to do agility training for dogs. Right now I have two dogs that I love very much, Allie, and Lucky. I always want to have dogs.

8. How do you plan on using your diagnosis to make a difference in the world?

I plan on making all rare diseases more well known. I want to do a movie night at my school and raise money to donate to The Global Genes Project – they help all rare diseases.

I want more people to understand rare diseases, and do more research so there can be a cure.

But, all that starts with awareness. Last year I asked my parents for something to wear, a symbol (like a pink ribbon) that would represent me, and my struggle with Cowden’s Syndrome. The Global Genes Project uses a denim ribbon and the saying “Hope It’s in Our Genes.” I really like that symbol so Mom’s friend made it into a necklace for me. It is hand engraved, and says “First of its kind.” It is really special.

A denim cause ribbon, crafted after the Global Genes Project's slogan, "Hope it's in our Genes!" — A denim cause ribbon, crafted after the Global Genes Project’s slogan, “Hope it’s in our Genes!”

Mom and Dad have one now too. One day I hope to look across the room and see someone else wearing one. I want the denim ribbon to be as popular as the “pink ribbon”

********************************************************************************************************

Hi. I’m Meghan.

I am really excited to be Guest Blogger. Life with Cowden’s is hard. I try to focus on all I can do, and like to do – especially swimming and reading. I’m an (almost) 10 year old. I wanted a normal life, but really when I think about it my life is the only one I know. Even with its cons I’m happy with it. Cowden’s Syndrome is a real pain,but its brought out the best in me. People need to be aware of these diseases. It feels great when someone understands you a tries to lend a hand.

Thanks For Reading!

Love,

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!

Invisible Illness

Published on July 7, 2013July 8, 2013 by beatingcowdens6 Comments

For the last 6 nights my soon to be 10 year- old has slept in between her father and I.

Now I will pause to give you time to gasp, as wave your fingers at me.

I will give you time to self-righteously proclaim that you “know better” than to put your child in your bed, because once you start “that habit” you will never be able to break it.

Go ahead. Tell me its my own fault that I don’t sleep as comfortably as I could with my 5 foot tall 85 pound child bouncing between clinging to my husband and I.

Tell me I should just send her back to her own bed.

And then – when you are done. Come over. Please. I will even make you some coffee – but you will have to settle for fake milk. No need to keep any in a house where a child has a dairy allergy.

When you come over you can watch her for a few minutes. I will let you watch as she winces in pain, and cries out as she bounces around. And that, that is after she actually gets to sleep.

See before she gets to sleep, there is pain. Always some pain. Always. But some nights, or weeks like this one, it is worse than normal.

There are nights, and plenty of them that she sleeps in her own bed. Right through until as late as we will let her. Those are the nights the pain is at its best.

Then there are the nights she needs one of us to rub her in her bed. A knee, a calf, and ankle, an elbow, a shoulder, a wrist, or even a head is keeping her up. Sure, you could say she is exaggerating. Maybe she is acting like any kid who doesn’t want to go to sleep. But Meghan is above many things, a really rotten liar. So, when she hurts – she lets us know. And when she doesn’t it never comes up – end of story.

The worst nights are the ones like this week. The ones where she can’t even get herself comfortable in her own bed. These are the nights she cries not only for the pain, but also for the raw fatigue that keeps her awake when she would rather sleep.

This week there has been pain. Pain in the legs as she adjusts to swim practice, or plays with a friend or two at a play date. There has been pain in the wrist, the pesky wrist injured now since early June. The one that has to have a problem – we just don’t know what it is – yet. The wrist in line for an MRI/MRA has a pulse to it that is reminiscent of the AVM in her knee. But we are trying not to jump the gun.

If you ever do stop by my house in the middle of the night, to see why none of us have any semblance of a normal sleeping pattern, maybe you can bring a warm compress, or strong hands, and help as we massage cramping, painful body parts.

No one knows the Meghan of 2 AM.

Everyone sees the bright smiley face.

Everyone sees the interpersonal child who talks with everyone – who makes them laugh.

Everyone sees the reader, the friend, the kid who likes quiet, and order, and rules, and helping people in need.

The Meghan of 2, or 3 AM disappears with the morning light. She washes her face, brushes her teeth, and puts on the best smile she can to prepare to face the world.

This is the story of life with chronic, invisible illness.

No one knows about the growths on her thyroid, or the insufferable hot flashes she has.

No one knows about the effort it takes her to walk up the stairs, or to sit and play with friends.

No one knows she is slated for 2 more MRIs, a pituitary function test and a pelvic sonogram – and that’s just the next 2 weeks.

No one knows because she doesn’t “look sick.”

And she wouldn’t have it any other way.

She wears her denim ribbon necklace, the one crafted after the Global Genes Project logo – every single day. And she dreams of the day she will look across a room at another little girl wearing one too.

The denim ribbon is the symbol for rare and genetic disorders, and since identifying her own need to have a “symbol” to wear, like my pink ribbon, she saw to it that one was created to be worn around her neck. She chose to have it modeled off the Global Genes Project- an organization that spoke to her heart soon after our Cowden’s Syndrome diagnosis.

We wear them now, my husband, and Meghan, and I – united in our battle. And we hope that one day there will be more.

Next month we will travel to Disney World, as we have for the last 6 years. While we are there Meghan will use a wheelchair.

Recently, when the controversy hit about the misuse of Guest Assistance Passes at Disney, I was sick to my stomach.

You see I have a child with a virtually invisible disability. She can walk, by the grace of God. She can swim. She can function throughout a day – often with insufferable pain at night.

But what she can not do is walk for long distances. Ever. Regardless of the footwear – no matter how hard we try to prepare. She just can’t.

We took her out of soccer because of the impact. We took her out of dance for the same reason. Now she swims, and even with that sometimes the muscle pain is difficult to bear.

So it is especially tricky for us at a park that necessitates walking and standing. Sometimes she can stretch her legs. Usually she can cover about a half mile on foot. Then she needs to rest. If she pushes too hard on day 1, by day 4 we might as well be back home.

She spent her birthday one year in tears, pleading with me – in the middle of EPCOT that she would go home “RIGHT NOW IF YOU COULD MAKE THE PAIN STOP.” That was the day after we let her walk 50% of the day before.

She hates being confined. She would rather walk. She looks like she should be walking. But she can’t be. Bottom line.

So as I said earlier, those of you who want to judge me for rubbing my child’s sore and aching body so she can rest – feel free. As long as we breathe she will be able to seek comfort in the arms of her mother and father.

And when you see me pushing her around Walt Disney World, I know there are the lowlives out there who abuse the policy, but before you assume that my “normal looking” child is one of them, ask yourself if you have ever met anyone with an invisible illness.

Ask yourself how many children, when given the opportunity, would rather navigate the happiest place on earth from the confines of a chair. Sure we all need a rest some time. But she’d rather have it on a bench. And while we are at it – she would rather be having an ice cream cone like the other kids too.

Just because I teach my child to go through life with her head held high. Just because I teach her to push through pain. Just because I teach her to smile at adversity and to be kind to judgmental strangers- that doesn’t mean she doesn’t hurt. None of that invalidates the 4 surgeries for the AVM in her knee, the thyroid biopsies, the constant scans, the issues yet to be uncovered.

My child knows patience. She knows how to wait. And she does it all year at countless doctors, and invasive lab tests, with grace, and poise and dignity.

So, before you forget what invisible illness looks like- look here. We are too busy BEATING COWDEN’S to acknowledge the judgmental. We teach our daughter to love and forgive. She has too much stress in her life to harbor any anger. We learn our best qualities from her.

Overwhelmed

Published on July 4, 2013July 4, 2013 by beatingcowdens1 Comment

Yep. Totally and completely overwhelmed.

I know I am not the only one. But I think sometimes the first step is admitting it.

Maybe it was overzealous to try to synchronize mine and Meghan’s 6 month follow-up appointments to coincide with the first 2 weeks in July and the February break.

My initial attempt scheduled 12 doctors , plus one MRI and one sonogram between June 27th and July 16th, (for both of us combined.)

It has mushroomed to include a Pituitary Stimulation Test and another ultrasound, 2 more MRIs yet to be scheduled, a possible muscle biopsy – pending a conversation between 2 specialists, a full day of work for me one day next week, Physical therapy 1-2x a week as we can fit it, 3 nights a week of swim practice, and 2 dentist appointments (that I PRAY don’t need follow-up!)

So, I waffle in between resenting the loss of my summer, and being grateful that I have July to get all this done.

The entire month of June I salivated for July. I couldn’t wait for schedule free days. Now I am frantically overtaxing my shredder as I organize all the tasks I label for “summer,” during the year. The July calendar makes me nauseous. Literally.

I mean we might have gotten bored eventually, but we have barely been near the pool. I say bring on the boredom.

Most of our appointments are in Manhattan. That can be a 45 minute trip or a 2.5 hour trip – depending on… well, the humidity? day of the week? air pressure? There is ABSOLUTELY no predicting.

We could take the bus. But that often involves the need for the subway, which I won’t do with Meghan, and lots of walking, which honestly she can’t do. So, we drive, fill the car with gas, head over a bridge and through a tunnel to a carefully pre-selected parking garage.

And, since there is no predicting, there is always a meal to pack. Never want to be caught off guard with a hungry Gluten, Dairy, Soy allergic kid.

Sometimes we are on time. Sometimes we are late. Always we wait, and wait.

Meghan is the most well-behaved child. I don’t lie because there is no need. I am sure she was a gift to me – while we can at times butt heads, her personality allows her to pack a book, her iPad, or something, and sit. For hours and hours. I couldn’t pull this off if she was any other way.

But, I don’t know if I would have a choice. There is no traveling to Manhattan at 4 pm, on a school night. It just can’t be for either of us. So we do what we must.

Today, before 8AM she was in the park, running the “fun run” of a local race that has been dedicated to our “Angel Meghan” for over 20 years. She ran for a quarter-mile – 2 and a half minutes, came in a close 2nd, and has been nursing her knees ever since.

I am in the basement, shredding, and writing while I wait for my overworked shredder to cool. Trying to get a few things off the “to do” list.

My head is constantly going – processing new information learned this week. Thinking. Asking. Wondering. Worrying.

Today is a good day. Daddy is home. The ultimate distraction for her.

We had a long talk this morning, me and my girl. I tried to push her to reach out to some friends. To go and be carefree like she should be. Even if its only for a while. Everyone has something we reminded each other.

I still can’t shake my need for order. I don’t need a psychiatrist to tell me my obsession with a clean house is tied to the inability to control much else in my life.

Cowden’s Syndrome – our curse, and our blessing. Sucking away hours that should be spent on the beach or in camp. Forcing a little love to grow up way too fast. Torn between my guilt that this mutation came from me, and my gratitude that she saved my life.

I lost my driver’s license today. Just the license. It fell out of my pocket. For $17.50 I ordered a new one on-line. Here’s to hoping that whoever tries to be me has a strong stomach, and a decent amount of stamina. They don’t know what they are up against.

The beach… and all her other plans – I will do my best.

Just trying to get by one day at a time.

This one is a favorite of a dear internet friend :-) — This one is a favorite of a dear internet friend 🙂

The thought for the day... — The thought for the day…

It’s a Thin Line…

Published on July 1, 2013July 1, 2013 by beatingcowdens8 Comments

It’s a thin line between love and hate. That’s how the story goes right?

These days I feel I am walking a very thin line, teetering tenuously between confidence that I will end on solid stable ground, and terror that I will just fall off.

Balance has never been one of my strong suits. But I try. Every moment of my life I try.

It’s a thin line:

between paid work and “real” work

between schedules and chaos

between strong and terrified

between education and being “over informed”

between smiling and crying

between a cider drink, and a few ounces of straight rum

between prevention and over protectiveness

between not screening, and missing it

between realizing everyone has struggles, and feeling overwhelmed by your own

between knowing it could be a whole lot worse, and wanting to crawl into a corner and give up

between a vacation, and a time to catch up

between feeling lonely and being alone

between cancer and “precancer”

between prevention and overzealous

between holding your girl as she cries in pain, and crying the night away yourself

between asking all the right questions, and asking too many questions

between BEATING COWDEN’S, and giving in…

It’s a thin line.

I am walking it every day this month, as the schedule changes constantly, and the number of days I had nicely confined so as not to overtake our summer quickly begin to envelop July.

I am walking it, as I wait for call backs that never come on time – cell phone pressed into my fingers.

I am walking it as I wait to schedule haircuts, and dentist appointments, and things that “normal” people do.

Why do I ask so many questions? Why do I push for answers no one really wants to give? Why?

Because if I don’t – who will?

It’s not going away.