rare disease – Page 15 – beatingcowdens

Priceless!

Published on February 19, 2013February 19, 2013 by beatingcowdens4 Comments

Waking up before the rest of my family on a vacation day – 2 cups of caffeine.

Filling the car with gas- $50.

Traveling through the Brooklyn Battery Tunnel $13 roundtrip.

Parking for 4 hours – $25.

Two doctor Copays $20 each.

Trip across the Verazanno Bridge… about $6 with my EZpass.

But, the news from the dermatologist that I can stretch the visits a whole year, combined with the news from the breast surgeon that “everything looks great and I will see you in 6 months!”

ABSOLUTELY PRICELESS!

So we cross small hurdles gleefully.

We had 7 appointments carefully scheduled for this week to avoid time off from work/school. Three doctors apparently realized last week they have kids at home and cancelled. So this concise week of appointments will stretch a bit, but I have begun scheduling the 11 doctors and 4 scans I can remember that are due in June/July.

I will do everything in my power to consolidate them.

Cowden’s Syndrome WILL NOT run our lives.

We are actively preparing for RARE DISEASE DAY…. (FEBRUARY 28th – Get your denim ready!)

Until Friday when we see the vascular surgeon about that pesky AVM…

Crying is OKAY here

Published on February 13, 2013 by beatingcowdens2 Comments

I cried today. Yep. That was it. Couldn’t hold it in one second longer so I pulled the car into a lot. Thankfully I was alone. And I rolled up all the windows, locked the doors – and sobbed.

It only lasted about 10 minutes, but I caught a wicked headache, and a bit of stress release from that good old-fashioned hissy fit.

I generally make a habit of not allowing them. I am a look at the bright side of life kind of girl. I like to remind myself about others who have it worse, and try to put myself in other people’s shoes. It usually works.

Today the emotion got the better of me. And its OK.

Work was stressful.

Supporting my dear husband while he works his tail off three nights a week at school is well worth it, but stressful for all of us.

Homework. Constant. Ever changing. Tests that need to be studied for. Worry about things not yet complete. Yep, its only 4th grade. The teachers are lovely. The stress is really almost unreal.

Today we went to the Urgi center for X-rays of a foot and ankle that has been bothering Meghan since dance class Monday. She limped for 2 days before I thought – negligent mother should have a doctor take a look. Sprained. Takes time. (Besides the 2 hours out of the afternoon.)

In addition to Cowden’s Syndrome, Meghan has a few other neat things. One of her diagnoses is “Benign Hypermobile Joint Syndrome.” Great – if you can manage your flexibility. If you can’t it leads to all sorts of random injuries. We keep a really good PT around… just because.

But, if I am really really honest – I don’t think any of these things pushed me over into that screaming sobbing cry I so desperately needed. I think it was sadness. Sadness, mixed with raw fear.

Last night I sat with a friend and her 7th grade son at the wake for the little boy who died last week. I couldn’t for a minute imagine that any more sadness could fit in that one room. I had a lot of time to think while we sat. Maybe too much.

I looked first at his family. Mom and Dad poised, and carefully greeting each on the never-ending line. Big Brother and Little Sister, beautiful, supportive, composed. I told you. They could have been any of us. And I am sure they never in their worst nightmare imagined they would be standing there.

And I looked at the police officers, standing in honor. Each one with red eyes as they tried so hard to remain stoic. Undoubtedly they had kids of their own, or they knew the young man well – or both.

Children. Everywhere. Out of order for a wake. Except this time it was theirs. It was their friend. The kid they sat in class with. Young preteens – so many of them former students. Faces raw with emotion. A night they will never forget.

Tomorrow my friend and I, we will go to the funeral mass. We will represent our school. We will try to keep ourselves composed. But, her thoughts will wander to her boys, and mine to my little girl. I will think of the “close calls” we have endured, and the many the Cowden’s Syndrome has on the horizon for us. I shudder at the horror… at the potential.

And yet, if I let it consume me, what life will that be for my girl; my beautiful, generous, compassionate young lady?
If I let the tragedy overwhelm me with the reality that at any moment, any of us could be this family, I will lose track of what I have.

If I lose track, if I stop cherishing the blessings I have, I do not give any honor to the memory of this little boy.

Instead, I hug tighter. Try to strengthen the duration of my patience. Smell the flowers. Say I love you. Believe in angels. Remember what really matters.

I can not comfort this family. My words are useless. They have to find their way.

But, I am quite sure now why I cried, and why I had to cry, and why I continue to cry. I can weep and mourn, with them and for them.

I can hug my little girl, and then hug her again. I can make memories that matter.

Maybe if we all take some time to show some extra love. Maybe then we can find a way to keep his memory alive forever.

God, hold them in the palm of Your hand – tomorrow, and forevermore. Amen.

It was NOT the Cowden’s… this time!

Published on February 6, 2013February 6, 2013 by beatingcowdens1 Comment

Insert HUGE sigh of relief here.

We saw the retina specialist. He was a young guy. He took a medical history. He had never heard of Cowden’s Syndrome so he took 15 minutes to read and familiarize himself with it so we could have an intelligent conversation BEFORE the exam. (This is where all my fellow Cowden’s sufferers stop in amazement… yes – imagine that!)

He understood my concerns, especially the vascular ones since the eye doctor saw “something” on the picture of the eye.

Even with her having said, “It’s Probably Nothing, but…,” he still took almost 1 hour start to finish on the exam.

He looked in her eye. He photographed the eye. He tested her eye pressure, and her vision with and without glasses. He systematically eliminated cause for concern, until he was able to say – yes, her vision declined – but I don’t see any ominous reason why that happened.

There is NO evidence of vascular lesion. There is NOTHING to indicate that Cowden’s Syndrome played any part in this one. Instead, it’s a bit of “cat and mouse.” This time we are chasing a different set of genetics.

Unfortunately for Meghan, her father’s family doesn’t carry good eyesight. Seems she got the PTEN mutation from me, and the rotten eyesight from them. Share, Share.., I am not happy about the poor eyesight, but it is a lot more straightforward and less messy than anything Cowden’s related.

Genetics.

Rare diseases.

Over suffered, and under researched. All of them.

Spoke to a Mom, a volunteer at the Global Genes Project.

She was lovely.

She also has twin 9-year-old girls with a rare disease, whose chances of long-term survival are bleak.

The kind of conversation you end wow-ing the other person’s strength, and being thankful for drawing the rare disease card you did.

And this week I am being reminded that your kid doesn’t need a rare disease to end up in dire straights. Young children are snatched from their parents far too soon. In ways that just don’t make sense.

So we pray. A lot.

We can’t fix everything. As a matter of fact we can’t fix most things. So we hope. And we help. The best way we can.

We will make lots more ribbons. People need to know about these disorders. All of them. And once they know, they will help.

We contacted the paper in hoped they will run a story. Every day feels like a story unto itself.

This time it wasn’t the Cowden’s. Thank God.

But there will be a next time. The worry will never cease.

Hold your children tightly. To a large extent we are lucky. We seem to know the beast we are fighting.

Tell them you love them. All the time.

We are going to Disney again. Money well spent.

Don’t look too closely at the backyard, and the deck. Just come spend some time with us. It passes too fast.

And WAY too much of it is spent at doctors, without much reprieve.

Tomorrow we head back to the dentist about those gums…

Rare Disease Day

Published on January 31, 2013January 31, 2013 by beatingcowdens4 Comments

So tonight, as I turned the calendar to February, Meghan actually whooped with excitement.

When I asked her why, she told me that she was going to “Celebrate Rare Disease Day” this month.

I smiled in spite of myself. This kid can get excited about anything, and to imagine that 2 years ago we never even knew there was a “Rare Disease Day.”

This year she intends to celebrate with her usual charm and zest.

Our kitchen table is a ribbon making center. We are gluing denim ribbons at an alarming rate. She created a half sheet to attach to each ribbon, describing our connection.

Then, she bravely approached her school principal to get permission to distribute 950 ribbons to the staff and students at her school. She will ask them all to wear jeans on February 28th. And that day, she will not feel alone.

She is getting to know some of the other rare diseases, listed here.

http://www.rarediseases.org/rare-disease-information/rare-diseases

She knows ours is pretty rare, but the list is alarming. Almost 7,000 diseases fit the criteria for “Rare Disease.”

http://curiosity.discovery.com/question/criteria-to-determine-rare-disease

So tonight, after we left the dentist, with the encouraging news that she doesn’t think we need an oral surgeon. We were in a pretty good mood. Meghan and I looked in the mirror at the “cobblestone gums” (a hallmark of our Cowden’s Syndrome) that we share. Mouth issues are just another battle to be fought in the war.

Rare Disease Day gives her a focus.

The pain has been horrendous this week. The legs, the knee, the groin, the arms. Probably the weather – everyone says. Little solace to my 9 year old. The Celebrex seems to be quitting. Supplemented each morning by a dose of tylenol, she gets through the day.

But she lights up again when the talk returns to “Rare Disease Day.” She has hopes that maybe her young friend in Australia, or in Ohio – both with Cowden’s, might be able to Skype into her school.

She and I have matching shirts from with the Global Genes logo.

She wants to give these ribbons to anyone who will take them. She wants the world to know, and to understand. Even if it is only for a day.

She wants her pain, her doctor’s appointments, her worry, her biopsies, her surgeries… to matter.

She knows they do. To the people who love her. She knows there is a virtual army following her in prayer every step of the way. She knows they are praying for the “retinologist” visit, and for her eyesight, as well as for her health.

She knows that some of them she knows, and some she will never meet. She appreciates every single one.

And this is the month. She will have “her” day. She will include everyone. She will not feel like 1 in 200,000. She will not be lonely.

She hurt tonight. We rubbed her legs, and kissed her before bed. We have no idea if it will ever be alright So we don’t lie anymore. We do what we can, when we can.

I will contact the local papers, and see if I can get someone to pick up a story on a little girl who wants to change the world.

I will eagerly await a phone call from the Global Genes Project.

You will hear a lot about this during the month. Bear with us. We are not passive people. We work through doing!

My Little Ambassador

Published on January 17, 2013January 17, 2013 by beatingcowdens15 Comments

Meghan is really into raising awareness of Cowden’s Syndrome and other Rare and Genetic Diseases. She is extremely excited about “World Rare Disease Day” on February 28th.

We are in the process of making MANY denim ribbons that look like this. She plans to ask her principal tomorrow if she can give one to every staff member and student in the school. She wants to do this purely to raise awareness. Her ideas for fundraisers are developing separately.

She has also researched statistics on Rare Diseases, and came up with this sheet to attach to the ribbons.

February 28^th is World Rare Disease Day

My name is Meghan… and I have a Rare Disease called Cowden’s Syndrome. It is a genetic disease that affects only about 1 in 200,000 people. (That is only about 1,500 in the whole USA!) One of my genes called PTEN is broken. It causes tumors and vascular growths in my body. I have lots of surgeries. My Mom has Cowden’s too. We are luckier than a lot of other people with rare diseases.

I learned some information about other rare and genetic diseases;

1. There are about 7,000 types of rare diseases.

2. Some of the rare diseases affect less than 100 people.

3. 50% of all rare diseases affect children, and are responsible for 35% of the deaths in the first year of life.

4. 1 in 10 Americans are living with a rare disease.

5 About 350 million people in the world are affected by rare diseases.

6. If all the people with rare diseases lived in one country, it would have the 3^rd biggest population in the world.

7. 80% of rare diseases are genetic. They can present at any time in a person’s life. My mom was much older than me when she was diagnosed. I was diagnosed first!

8. There are no cures for any rare disease, and only 5% of them have any treatment.

9. Over 50% of all rare diseases have no foundations, support groups, or anyone looking for a cure.

10. Cowden’s Syndrome isn’t fun, but when it comes to rare diseases, we are some of the lucky ones.

We support, and get our information from www.globalgenes.org. Their slogan is “Hope it’s in our Genes.”

That “play on words” is why we wear denim, and denim ribbons today.

In addition, because maybe there was a chance I couldn’t get any more proud, she received a book assignment from school. She had to write a story where the main characters were two dogs named “Casey and Bella.” She decided to write about what meant something to her.

I have no idea who will win, but you know who gets my vote.

Everywhere she goes, she seems to take an opportunity to tell someone about Cowden’s Syndrome. She says people need to know. She uses our necklaces to start all sorts of conversations.

She dreams that one day they will be as common as the “pink ribbon,” or the “puzzle piece.”

I think she is just the girl to make it happen.

Someone in one of my online groups asked if we knew anyone famous with Cowden’s Syndrome.

Does… I know someone trying to make Cowden’s Syndrome famous count?

I love my little girl!

Reflections

Published on December 16, 2012 by beatingcowdens3 Comments

I can remember as if it were yesterday, walking the halls of the elementary school where I am a teacher, in the hours after I had heard of the horrors of 9/11. I attended the same school as a child. I knew that the lives of the young second graders I now taught would never be as happy and carefree as mine; some 20 years prior to that day when everything changed. It was an eerie feeling. One that I knew would be realized gradually. It was a moment I have reflected on countless times through the years.

Friday was a busy day. I never stopped for lunch, and it was 6th period before a colleague mentioned the shooting in Newton, Connecticut. At that point the details were still extremely sketchy, and while I was troubled, I was not nearly as disturbed as I would come to be over the next few hours.

As the details of what had transpired at Sandy Hook Elementary school began to unfold this weekend, I was, like any other compassionate human, horrified and appalled.

I send my child, my heart and soul, to a school a few minutes from where I work. The staff is dedicated, and caring. Honestly, I never gave her safety a second thought. But, after visualizing the entrance to her school – so close to the cafeteria, often full of children. Well, my mind when left unattended can do some awful things.

And then there is my own school. The school I attended as I child. The school I have taught at for 16 years. The children who are the siblings of others I have taught. The families I have known for years. I think about these children often. I talk about them at home as if they are part of my family. I live each day with the knowledge that I am entrusted to educate, and keep safe, someone’s “heart and soul.” This is not a responsibility taken lightly.

I know the exuberance of a room full of 6 and 7 year olds. I know the electricity in the air in the weeks before Christmas. I know the love in a teacher’s heart when she hides her students in closets, or tells them she loves them.

What I do not know, what I can not imagine or comprehend, is the heart of a man who walks into a school building and kills – 20 children and 6 adults. I can not know. Nor do I want to.

It is not my place to judge him. It is not my place to publicly state his wrongdoing. I have a strong faith, and I leave the sorting out of all that to God.

I know with confidence that those who died, as young innocent children, or their protectors, were welcomed warmly though Heaven‘s gates. They are not the ones I worry about anymore.

As a parent of an ill child, especially one that suffers with a ruthless rare disease like Cowden’s Syndrome, I do not know a day of peace. I worry from sun up to sun down about tumors, and growths, and headaches, and hot flashes, and lingering maladies that don’t suit a 9 year old. I am always at the ready because I don’t know what we will be fighting next. But I can tell you this- there is no part of me that would trade places for a second with these families.

I have the blessing, if you will, of knowing something about our enemy. We have the ability to be proactive. We can battle. We can prepare. We get tired, but we can win.

Evil ripped these lives from their families. There is nothing they could have done better. or differently There is nothing they could have fixed or prevented. They went to school. They went to work. And they died.

So, what can you take from this whole nightmare?

I will take from it that I need to do more of what I do every day. I need to hug my daughter and my husband. I need to tell them I love them every time it crosses my mind. I need to serve ice cream for dinner sometimes, because its fun and silly. I need to look less at the clock and more at them.

I need to prepare for the holidays with a different mindset. I need to organize, but not to a fault. If the cookies don’t get baked – I need to buy them. If the cabinet’s don’t get cleaned, I need to serve extra wine so no one notices. If I can’t cook it, I will order it. And come Christmas Day we will sit as a family. We will count our blessings, and remember our lost loved ones. We will understand that we are all different – and we are all the same.

The battles we face in our house are real. The journey is not always easy, but every day that we are together is a blessing. And there is no promise of tomorrow together on this earth.

Monday will be here in a few hours. I will send my little girl on the bus to school, with an extra lump in my throat. I will head the short distance to my school where I will look at everything with an eye towards awareness. I will look at my students and remember the lumps in their parents throats. I will look at my colleagues and respect that we all have the same goals in mind.

And when my phone rings, and I get the news about my spleen – bad or good. I will take a deep breath and keep on swimming. No matter how tough things can get, it could always be worse.

May God, and all the angels above surround the families and friends of all the victims. And may they all rest in peace.

It’s not all about us

Published on October 15, 2012October 15, 2012 by beatingcowdens3 Comments

And this is how the day started. With thoughts of Friday. Never a good way to start the week. I am not one to try to wish my life away, but is it so wrong if I prefer days with my family over anything else in the world?

But, we got it together and got out of the house on time.

Waiting for Meghan to get on the bus, a car doing about 65 speeds down our street. As I refrain from the words I want to yell, I quickly say a prayer to myself – that his stupidity and selfishness doesn’t bring harm to anyone else. I am always appalled – and I don’t care how late you are – by the callous disregard for human life it takes to speed past a school bus. UGH!

Pretty much that sums up how the day continued. There is a sense of urgency in everyone it seems – except about what really matters.

Now I don’t claim to have it all together all the time. And I don’t claim to be free of frustration. Nor do I deny that the ,”Why Me?” bug does bite us all here sometimes.

But, I am still amazed by people who are so narrow-minded that they can’t see the world from someone else’s point of view. I am still deeply troubled by people who won’t take a minute to try to put themself in someone else’s shoes. And I am horrified by those so self – absorbed that they speed past school buses, and generally have little regard for human life.

Maybe that’s it. Maybe I feel like too many people don’t realize how precious life is.

I don’t mean it as a morbid thought – but it really is true. I look at my grandparents, still married – 67 years later at 92 and 93, and they always kiss each other goodbye when they go out. I would hope they will be with us forever, but reality is what reality is, and they take a moment to express their love – often. So many people could learn life lessons from my grandparents. They are role models to be emulated in so many ways.

_DSC0072 — Ist Holy Communion 2011, with GiGi and Pop

It shouldn’t take a rare disease. Cowden’s Syndrome or any other are not prerequisites for compassion. You shouldn’t need to have cancer, or multiple surgeries, or scary benign tumors, or to live in fear of any of the above, before you realize the value of life.

We are in a waiting period here. No major new doctor news. The headaches Meghan was suffering with have subsided, but I still need to get a neurology consult together for her. The joint pain is returning, slowly, one spot at a time. It is manageable still, but the requests for supplemental pain medicine are starting to take place at least 3 times a week. Hoping that the 100mg of Celebrex will be enough to keep her comfortable, maybe until they find the reason for her pain. We go to the eye doctor in 2 weeks. The cardiologist is the beginning of December. He will hopefully tell us that the one too many prescriptions required to keep my little love functional are not harming her heart. Then – on the 27th of December – its on to the endocrinologist to check those thyroid nodules. That same week we will sneak in an MRI of my spleen (which, I am still KEEPING btw..) But, for now we are in a holding pattern and it is a good place to be.

Of course, being in a holding pattern gives my girl time to think. While we wait word on the necklace from the Global Genes Project,

she is already planning our next fund-raising adventure. I am currently on the hunt for denim ribbon so she can outfiit her school in denim ribbons for “Rare Disease Day,” February 28th. And, with a few whispers in her ear from a special third grade teacher, she has begun to ask if we can “pull off a 5k run” for the Global Genes Project.

So, I put a few feelers out. We will keep you posted.

I will be practicing looking at the world through the bright eyes of my child. She sees a lull in doctors as an opportunity to spend time helping others. There has to be a bunch of lessons there.

Take a minute to breathe. Time passes so quickly. Hug a loved one. Look at the world through someone else’s eyes.

I have always known these things on some level – but Cowden’s Syndrome has brought them to the forefront of who I am.