I Know Why The Caged Bird Sings

Published on August 27, 2013August 27, 2013 by beatingcowdens1 Comment

I Know Why The Caged Bird Sings

The free bird leaps
on the back of the wind
and floats downstream
till the current ends
and dips his wings
in the orange sun rays
and dares to claim the sky.

But a bird that stalks
down his narrow cage
can seldom see through
his bars of rage
his wings are clipped and
his feet are tied
so he opens his throat to sing.

The caged bird sings
with fearful trill
of the things unknown
but longed for still
and his tune is heard
on the distant hill
for the caged bird
sings of freedom

The free bird thinks of another breeze
an the trade winds soft through the sighing trees
and the fat worms waiting on a dawn-bright lawn
and he names the sky his own.

But a caged bird stands on the grave of dreams
his shadow shouts on a nightmare scream
his wings are clipped and his feet are tied
so he opens his throat to sing

The caged bird sings
with a fearful trill
of things unknown
but longed for still
and his tune is heard
on the distant hill
for the caged bird
sings of freedom.

Maya Angelou

I am sure this is not what Maya Angelou had in mind. And really for the safety and sanity of my friends and family, I don’t sing – ever. Yet the phrase about the caged bird keeps running through my mind.

Being caged is an illusion in some respects. I have a beautiful house, and a lovely family. We have two cars that work sometimes, so we do have access to the outside world.

Yet sometimes life with Cowden’s Syndrome can make you feel caged. It takes away the freedom, the ability to go as you see fit. It robs you of the carelessness that should be an inherent part of a 10 year old’s day.

And even as some days I want to cry with frustration – my young caged bird continues to sing…

This is the summer of irony. All over the place and in our faces.

Not lost on us are the numbers of family and friends whose privacy I respect too much to mention, but whose lives are upended, and who are in their own right “caged birds.”

All summer we sat at doctors. One after another. Hours upon hours upon hours.

Now- we don’t have any appointments. But the broken wing- the wrapping on her hand and the stitches prevent us from getting too far.

The hand has to be elevated with a Carter Block, until the stitches come out Thursday. Then we can talk about resuming therapy. Today the calendar is empty. The sun is shining. And here we sit.

Not exactly alike - but you get the idea — Not exactly alike – but you get the idea

The pool is crystal blue under the bright sky. Taunting.

I can take her out but if we go too far, or do too much, the throbbing begins again. Maybe we will make a quick trip somewhere just to get out.

I have a million things to do. No shortage of work to keep me busy. But, I can’t seem to get anything done. Irony. You want and want for time to get things done, and then… it’s like I developed a full blown case of ADHD. I can’t keep up with my mind, and the list just grows.

If I take responsibility, some of this feeling comes from my general lack of spontaneity. I am a planner. Much to my detriment. I long to be the one who just gets in the car and goes. But even though I struggle with this and try to gain a glimmer of impulsive behavior, the reality of our lives seems to tether us close to home.

Allergy meals are tough to come by and can’t be taken for granted. Food and enzymes must be planned….The consequences are dire and painful. I won’t take the risk.

So, here we sit. God bless her, and her patience as she alternates reading, TV, and playing with the iPad.

I am working on laundry and the floors, and cutting some 100s charts out of laminate for school. Always moving, and accomplishing precious little.

I am breaking out into a cold sweat as I schedule our next round of appointments. What a feat. Distressing, disturbing, necessary waste of time. I have about 8 scheduled for us from December to February already. And a few others sprinkled in for good measure.

We see the doctor on Thursday. She should get some freedom then. Just in time to set up my classroom.

Maybe I will just open the cage long enough to sit on the deck, or take her for a walk around the block.

Have to remember the little things, because they really are the big things, right?

Staying focused…

When Pigs Fly

Published on August 24, 2013 by beatingcowdens2 Comments

At the very end of school I received this gift from a 4th grade student of mine. I think it is probably one of my favorite gifts in my 17 years teaching. Small and delicate, yet tough and determined. Not much for collecting things, but this was a keeper.

Meghan continues to battle her way through the pain of recovery. She rests and reads and watches TV to pass the time. She is tolerating the pain a bit better, although the reality there was a scalpel scraping scar tissue off the ligament and nerve in the center of her palm is not lost on her every few hours as the medication starts to wear off.

The day we came home I explained to her (again) about how Cowden’s Syndrome likes to “overgrow” things. We talked about “hyper-healing,” and her body’s desire to overproduce cells to try and solve a trauma. That is a crude explanation of our tumor growth. That same crude explanation can be used to explain why some Cowden’s patients have a prevalence of scar tissue. Every time there is a surgery, or an injury the body over works, and sometimes the result can be just as bad as the original problem.

Overcoming impossible odds. I like the way that sounds. The overcoming part, that is.

So, we talked about range of motion and the need to keep on moving those fingers so the scar tissue doesn’t form and stiffen things up. She knows she will need therapy. She is used to that. She did not like the thought that her range of motion could be affected permanently if she didn’t move.

With raw determination she wiggles her fingers. Several times an hour I watch her wince in pain. No one tells her to. She just knows she has to, and she doesn’t like the thought of the alternative.

See its all about the swimming. Her sport. Her niche. Her comfort zone. Nothing will keep her out of the water for long.

The pain exhausts her. She has circles under her eyes, not from doing much other than being in pain. But for those of you who live with chronic pain – you know that it wipes you out. So she sleeps. 13 hours when she can. Better for the healing I am sure.

When I was dusting this afternoon I came across my friend Penelope Pig, and I thought of how relevant she is.

I thought of all the times in my young life I uttered sarcastically the phrase, “When pigs fly!”

I thought of my arrogance and how little I knew about the important things on life – the things worth fighting for.

I realized in all its ridiculousness, it can actually be a poignant phrase.

I’m going to let this surgery stand in my way – WHEN PIGS FLY!

I’m going to stop swimming – WHEN PIGS FLY!

It fits for so many things in life.

So many other things on my mind. So many thoughts all garbled up inside.

Sometimes I feel like we are running on raw nerve, on sheer will and determination.

And guess what – we will give up….

WHEN PIGS FLY!

Future Doctor, Meghan

Published on August 20, 2013 by beatingcowdens10 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!

It Never Gets Easier

Published on August 20, 2013August 20, 2013 by beatingcowdens8 Comments

They say “practice makes perfect.”

I disagree.

No matter how many times we practice this scenario, for surgery, for biopsies, for tests- it is no easier now than it was the very first time.

And boy have we had practice!

This morning, as Daddy walked with her to the operating room,(our routine firmly in place – Daddy does the OR and Mommy does any overnight stays) I was still struck with the distinct feeling that I had been kicked in the stomach with a large pair of steel tipped boots.

This one should be ok. 9 days wrapped and dry. Stitches removed, and we should see progress.

As long as…

Well now we fidget and pray and keep busy. There will be time for the rest.

Manatees, cell phones, and hidden blessings

Published on August 8, 2013August 9, 2013 by beatingcowdens2 Comments

There was a moment yesterday when I thought seriously about dropping my cell phone into the tank with the Manatees and walking away. It had rung twice in the last 30 minutes. The first brought news that my husband (yes, the not PTEN affected one) needed to go back in for further testing of some skin issues. The second call was to put the car claim on hold. They won’t arbitrate until the field tech services the car. I do hope he brings his magic wand. This was supposed to be vacation. And a respite from the cares and worries I had left miles behind. My mother graciously agreed- again, to live at my house and care for my dogs, even though she is in dire need of a rest herself. As I felt my blood pressure escalate, I held on to my phone. I thought slowly and deeply. I turned the phone off and tossed it in my bag. We had waited too long for this… This morning I woke up early all by myself. I rode to the Magic Kingdom alone. I spdone some time readjusting my head. I rode Space Mountain alone. Haven’t been near that ride since 2000. But heck, if I can Beat Cowdens- I can do anything. So I did. And the day continued just fine as we prepared for the anxiously anticipated archery lesson. There were times when things really stunk over the last few weeks, we would talk about this archery lesson. And then, as it will often do in Florida in August- it rained. It was one of those bone soaking thunder and lightning storms that come out of nowhere at exactly the wrong time. And just like that archery was cancelled. Quite aware that I am supposed to be the grown up in such things- I did the mature thing. I cried. Tears if frustration for weather out of our control. For circumstances that couldn’t be changes, and for yet another disappointment for a child who has had way more than her fair share. But, as God so frequentdie does, He heard my desperation. Something that could seem so silly if you didn’t know the back story- yet another blow to our shaken cores. And then. The supervisor, and one if the instructors, pulled us into a back room and for 30 minutes gave Meghsn a 1:1 lesson of the basics of archery. She held the bow- just never shot it. And, maybe with that soft tissue tumor it was for the best. Grateful we headed back to meet my very dear childhood friend and her family for dinner. The conversation was light. Relaxed and fun. The kids were excellent, and we ended the night at the Main Street Electrical parade. Blessings abundant. Maybe we will appreciate them even more because we have to look extra to find them. Yet- they are always there. I decided to keep my cell phone. But now I turn it off for large parts of the day. I figure the manatees wouldn’t like Candy Crush anyway.

Rare. Invisible. Real.

Published on August 5, 2013 by beatingcowdens4 Comments

Those are the words that come to mind every time someone asks me to describe Cowden’s Syndrome.

Most people, even most doctors, understandably, have never heard of it before.

With an occurrence of 1 in 200,000 that is not a surprise.

There is always hope... — There is always hope…

What is a surprise is on days like today, where the sun shines a bit brighter. The traffic is a little lighter. Daddy is home on vacation. And, we met a doctor who had heard of Cowden’s, understands it, and is compassionate, likable, and easy to talk to. Yep, imagine that? A POSITIVE experience!! 🙂

We saw an NYU affiliated hand surgeon today. I am sure God heard the chorus of prayers storming Heaven for an answer for this kid, and today He delivered.

We were early for our appointment and waited in an uncrowded waiting room, while a pleasant receptionist organized the paperwork.

We were taken promptly at our scheduled time. We met with a friendly, competent PA. She had the hands Xrayed. The doctor was in the room 10 minutes later and immediately had Meghan on his side when he started to talk about two of her favorite things – Disney and swimming.

He examined her hand. He easily recognized the soft tissue tumor that is typical in Cowden’s Syndrome. He told her stories of another young boy he treats with a rare disease who grows bone instead of tissue. He validated her. He was confident. He drew a picture, and explained why that tumor was causing pain.

With every word he spoke her smile grew. The hope went back into her eyes. She waited anxiously for him to tell her he was going to take it out.

She almost leaped up and cheered.

August 20th in the early morning hours. my then 10 year old will prepare for her 10th surgery.

That’s how you know a kid is at her wits end. When surgery is an exciting option.

He told her it wasn’t going to be better right away. He asked if the PT from the letter we showed him (you know – the PT who had it right ALL ALONG! 🙂 could rehab her hand. I told him I was quite sure she could, but I would ask. (Actually – I have no DOUBT she can do anything. Dr. Jill NEVER gives up on Meghan!)

He said the pain may be worse for a bit after he “messes around” in there, but that gradually she will feel the pain lift and the range of motion return. I wanted to hug him.

All it takes is someone who “Gets it.”

We all want to be validated. As adults we often struggle to have our concerns made valid by those we love. When you have a rare disease, where the symptoms are often invisible, you struggle to be taken seriously. People are quick to pass judgement.

She looks fine, why can’t she walk? She must be lazy.

She is complaining again? Attention seeking,

So when you are just trying to have your voice heard, at the same time that you are trying to find your voice -life can feel extra challenging.

Cowden’s Syndrome is a struggle. We are buoyed by the fact that we have each other. I have Meghan as my inspiration, and she has me as her advocate.

I will NEVER give up. She will continue to get the care she needs. She will continue to see doctors who validate her. She will continue to inform an under informed public with her “cards.”

She is my heart and soul, my sunshine. She deserves nothing less.

We can’t change the “Rare.” The “Invisible” or the “Real.” But we can open the eyes and hearts and minds of more and more people every day. Ours is one of so many other Rare Diseases. We are grateful. We are blessed. Even through our pain we have gratitude for our blessings. And we will move forward with our mission of awareness.

I don’t know anything about “Cowden’s Syndrome…”

Published on July 30, 2013July 30, 2013 by beatingcowdens7 Comments

After last night’s late night strep diagnosis, there was no way I could send her to Bible School this morning.

But, I had an appointment with the breast surgeon – a routine follow-up that I knew would take 5 minutes.

(That is why I had scheduled it July 16th when I was ALREADY IN the city- but last-minute doctor vacations are just one of the many inconveniences of life these days.)

I knew it would take 5 minutes – after I drove through an hour and a half of traffic, parked the car, walked a half mile, and waited to be called.

Truth be told it was lest than 5 minutes. A three-minute groping of my silicone implants and surrounding lymph nodes. The proclamation was made that everything looks “great” and I should return in 6 months. I actually was probably dressed and on my way before 5 minutes were up.

But, I HAD to go. It would have been too easy to cancel. It would have been too easy to blow it off. And what if? What if that one renegade cell… Nope, I HAD to go.

And, Meghan had to come with me. She trekked like a trooper to the main hospital to get another copy of the CD of the MRI of her hand for the orthopedist appointment at 2:30. Then, we traveled on the journey to the Clinical Cancer Center. I had to push her in the push chair today. The strep was knocking the wind out of her this morning and the hips and knees were bothering her.

It was also bothering her that people were staring at her. So it was a great opportunity to give her LOTS of really LOUD pep talks. I hope a few people overheard. Some people are really dumb. Others mean well – but for goodness sakes, don’t just stare at the child. Say “hello,” “good morning,” ANYTHING… UGH! But anyway…

And after the 5 minute appointment there was another hour in travel time back home.

Just in time to let the dogs out and run to pick up some chicken breast cold cuts for her to eat before physical therapy.

As she inhaled the chips and chicken I spoke with the therapist. I am always just so impressed by how smart she is, and how much she actually cares about Meghan. She took the time to READ about Cowden’s and to try to understand WHY and HOW the small fatty masses on her palm are affecting her. If only there were more…

Right after therapy it was off to the orthopedist looking for a few answers about the hand and the wrist.

That’s where things unraveled.

Ok. I understand it’s a rare disease. I do.

I get that with an occurrence rate of 1 in 200,000 you may not have touched on it in medical school.

But, you insisted on the paperwork completed online a full 10 days before the appointment. You could have read it, or had someone flag it.

And, I made the appointment with the doctor who had been prepped already.

Bait and switch?

The orthopedist today was amazingly young. I guess the big 4-0 is approaching fast, because I could scarcely believe he was out of medical school. Everyone seems to be looking younger and younger.

No need to remind me of what that implies. I get it.

We have seen LOTS and LOTS and LOTS of doctors. MOST would rather make something up than admit they didn’t know something, which is a problem in and of itself. Not this guy.

He examined her hand. Validated the pain. Looked at the MRI report. Declared there to be “nothing orthopedic” about her problem. And then he said,

“I don’t know ANYTHING about Cowden’s Syndrome, so you’ll have to tell me what it is and what it does.”

I almost asked him to repeat himself, but that would have just been to buy me time for my response. So, as I was gathering my bags and looking to exit as fast as I possibly could, I gave him a brief lesson on Cowden’s Syndrome.

This doctor was far younger than me.

This is the technology generation.

Step out of the room and hit google.com

The first link is this one http://ghr.nlm.nih.gov/condition/cowden-syndrome

What is Cowden syndrome?

Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person’s late twenties.

Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability.

The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions.

Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.

Read more about Bannayan-Riley-Ruvalcaba syndrome.

How common is Cowden syndrome?

Although the exact prevalence of Cowden syndrome is unknown, researchers estimate that it affects about 1 in 200,000 people.

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

Was that so hard? Meet me half way people.

It’s still hard for me to believe that cost me a co-pay.

Let’s see if the hand surgeon on Thursday can offer us something better.

Or maybe the rheumatologist will actually call me back.

Taking bets?

Every day is a great adventure!

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.

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.