Genetic disorder – Page 11

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!

Two of a Kind

Published on December 29, 2012December 29, 2012 by beatingcowdens5 Comments

The upside of waiting I guess, is that it gives me a bit of time. Since I can’t concentrate, I multitask. Simultaneously taking down the Christmas decorations, while doing laundry and eating chocolate chip cookies with white wine. Seems like a perfect time to stop and blog.

A few months back I posted about Meghan‘s necklace. The one that we had had created, just for her, inspired by the Global Genes Project logo of the denim jeans. She received it in August and was so thrilled. She wears it proudly and looks at it as a platform to explain to people what it stands for.

Her goal in having it created was to ultimately have the Global Genes Project sell them as a fund raiser. She has this hope that her idea will ultimately raise money for rare and genetic disorders. I think she is right, and eventually they will get to selling it. Although the holidays are a crazy time and a lot of major things have been going on at the Global Genes Project. They are a super organization. Working to the benefit of all of us who are affected by rare genetic disorders – in our case, Cowden’s Syndrome.

This fall she had my friend’s husband – who created the piece, engrave hers. It says “August 2012 – First of its kind.” How appropriate. I am quite sure my girl is the “first of her kind” as well.

Because, she decided she wanted me to have one too. A necklace like hers.

“After all Mom, you didn’t just have breast cancer. Cowden’s Syndrome is what we will both have – forever.”

She’s right. As I gulp the last of my wine. We are at this forever. Together. And as much as it flat out stinks, I wouldn’t want to share forever with anyone else. She is one awesome little girl. Each of us 1 in 200,000. Lucky enough to have each other.

Beating Cowden’s… With a Jingle of Hope”

Published on December 10, 2012December 10, 2012 by beatingcowdensLeave a comment

Friends creep into your life at the strangest times, and under the most peculiar circumstances, but sometimes the people we are happiest to know are the ones who became friends when we weren’t paying attention.

My neighbor has a heart bigger than almost anyone I know – except maybe my daughter. She has looked out for all three (five with Allie and Lucky) in this house more times than I can count. She loves my little girl like she is her own blood.

Today she showed up with this ornament.

Apparently she made them, sold them. and brought the profits over for Meghan to donate to the charity of her choice.

She fills our lives with JOY – and is definitely an angel on earth.

Random acts of kindness. LOVE!

Blessed- with my fake boobs

Published on December 9, 2012 by beatingcowdensLeave a comment

No, seriously – I mean it.

Yes, there is the occasional moment where I think the new girls feel a bit awkward, or unnatural. There is the occasional moment when I look in the mirror and try to remember what the old girls looked like, and what it was to have nipples instead of scars.

Then I get over it.

And I think about how comfortable and natural it was last night, as I held my exhausted daughter and she rested her head on this size A silicone that sits where my old boob was. She didn’t even hesitate. She didn’t mention it being weird or unnatural. She didn’t notice.

And my husband, who means it when he says over and over – “I am just so glad you are here.” And, I believe him.

I am blessed to have had great surgeons, a superb support system, and the “push” to say goodbye when it was time.

A year ago I still had more body parts. If I had left them all alone I could be dead now. But I am not. And the cancer is gone.

This Cowden’s Syndrome can really suck sometimes.

Other times I feel very blessed.

Plus – mine will stay perky longer than yours! 😉

Thankful for… that first piece of pie!

Published on November 22, 2012November 22, 2012 by beatingcowdens3 Comments

I was going to avoid boring everyone with the same drivel that has been written over and over today, but I couldn’t resist.

It’s hard not to think about what you are thankful for on a day earmarked for reflection.

So, here it goes…

I am thankful for my husband. He stays behind the scenes all the time. He never looks for the credit in anything we do, yet he is the driving force behind our marriage and our family. He knows when to make me laugh, and when to hold my hand. I am not sure how I could have gotten through this year (or the 12 before it) without him.

I am thankful for my daughter. She reminds me every day what is important in life. She inspires me to push through adversity, and to keep on going – even when the going gets rough. We share a lot (maybe more than I would like… darn Cowden’s Syndrome) and I could not ever ask for a kinder, more compassionate, loving daughter. Even on the days we go head to head – I am the proudest Mom.

I am thankful for my “furry children,” my Allie and Lucky. Their unceasing loyalty, their love and companionship bring such joy to all of us. Plus – there is nothing like rubbing a belly on a stressed out day to make you feel better!

I am thankful for my parents, and their “being there.” Sometimes that’s all you need is for someone to be there.

I am thankful for my siblings… all of them so very different, yet all so incredibly important to me. I am thankful that even on the days we don’t see eye to eye – our love is strong,

I am thankful for my nephews, and the joy they bring, just by being themselves.

I am thankful beyond words for my grandparents. Their support through these last 39 years, has been pivotal in my development as a person. I am certainly a better, wiser, stronger woman – having learned from their example. I continue to learn from them each day; lessons of love and compassion. Not many people my age are so fortunate.

I am thankful for my home – more this year. I celebrate the fact that we passed through “Superstorm Sandy” virtually unscathed. I am prayerful for those who have lost so much, and I am trying so hard -to recognize the “small things.”

I am thankful for my friends – near and far. I am thankful for my local friends, my college friends, my friends from work. I am thankful for the friends I see often, and the ones I hardly see at all. I am thankful for my “cyber” friends, that I have “met” through support groups, and this blog. The joy of knowing you are not alone can never be understated.

I am thankful for my health. I know that may sound strange, considering the whole premise of this blog is about a genetic disorder that compromises the health of myself and my daughter – but hear me out. I have this year alone undergone 2 major operations, and recovered. I survived breast cancer without ever needing treatment. I am able to walk, to run, to care for my child, to exercise, and move freely about my world. While I have health concerns, and Meghan and I will always have them – I recognize how much health we do have, and I am thankful.

Finally, and the one thing that brought the biggest smile to my face all day – I am thankful for my daughter’s first piece of pie.

Meghan has always had food allergies – gluten, dairy and soy. This year we made her a pie by rolling out her cookie dough as the crust. We filled the middle with coconut milk ice cream, and topped it with her syrup. She was so excited. It wasn’t until I cut her a piece and she asked me how she was supposed to eat it, that I realized she had never had pie. Sometimes the little things – are the big things!

Happy Thanksgiving one and all.

Why worry?

Published on November 17, 2012November 17, 2012 by beatingcowdens1 Comment

That feeling. The one where the doors are about to close, and you have to make a decision. Are you going to fight your way out… or give in and let them trap you?

The pile of bills and papers on my desk increases by the moment. I am usually more on top of it than I have been these last few weeks. When I say bills, don’t misunderstand. We can pay our bills just fine. The ones I am referring to are the countless ones from doctors and hospitals who have billed incorrectly, or have not billed our insurance carrier at all. I am not the type to write the check until they have exhausted all options. I need to get to the bottom of that pile. Make those phone calls. Do their job for them.

qq1sgMessyDesk — Ok so it’s not quite that bad, but its getting there!

I could say I lack the time, and to some extent that would be true. They want to speak during business hours. I am available ideally, from about 8 PM until 2AM. But, I think I also to some extent lack motivation. It would be prudent to address this cycle of bills before our next round of appointments next month. Meghan has a few critical appointments during the winter break, and a few at the beginning of December. Not to mention the eye doctor that I still haven’t rescheduled. And the orthodontist – UGH, have to call the dental carrier too!

I am used to this to some extent. I have never known any different. It has been my whole life and Meghan’s too. Only during the last year did it get a name. But the reality is still very much the same. Constant appointments, hoping for no new tumor growth anywhere, followed by a cycle of bills that need to be rebilled and corrected. It always works out. But it does get a bit old.

This month it has been especially hard to focus. Hurricane Sandy rocked Staten Island so hard that you would have to be living under a rock to be unaffected. We are guiltily grateful that we were safe and blessed – but it is hard to get the images out of your mind, or the reality of the people that need help. We all do what we can. Certainly a time to “Pay it Forward” here.

Then there is my dears sweet Grandma. Grandma fell on the day of the hurricane, and spent the week recovering from head trauma in ICU. She is home now, improving daily. She is walking with a walker, weary of her time in bed, and anxious to move as much as she can. She is such a fighter. I am so incredibly impressed by her determination, but that is nothing new. At 92 she is blowing expectations out of the water. She is amazing, and inspirational.

And, so is my Pop. He loves Grandma so very much that it is almost breathtaking to watch. I have had the privilege of spending lots of time with them these last few weeks, and I am inspired.

65-years — Ok – December 30th it will be 67 years, but the concept is perfect!

I was lucky enough to spend the night on Thursday. After everyone was ready to sleep and I was settled in on the couch, Pop brough his chair over to Grandma and held her hand as she fell asleep. True love at its best.

Today, a VERY kind nurse. A stranger to us, but a friend of a dear friend came and took the stitches out of Grandma’s head. Like an angel sent to us, she lovingly removed the sutures, and later thanked me. She was awed by the love she witnessed between my grandparents. She would take no money. She just was so thrilled to help. She was our angel on earth today, saving us a potentially dangerous trip to Urgent Care.

Grandma doesn’t have Cowden’s Syndrome. As a matter of fact I am increasingly certain I am the first in my family to inherit the PTEN mutation that causes Cowden’s Syndrome. That genetic defect was handed over to my daughter as well. But Grandma doesn’t have it. I am sure. What she has is an intense, loving, fighting spirit, and a desire to be well. That – I did inherit!

The piles are larger than I like. They are everywhere, and I admit to feeling a bit stressed about the lack of control. But, I am smart enough to be aware of the blessings around me. To be thankful, and have a heart full of gratitude. For it is the little things that make all the difference.

Paying it Forward

Published on October 28, 2012October 28, 2012 by beatingcowdensLeave a comment

Meghan‘s school motto is “Pay it forward,” and it is one of my most favorite things she has learned in her 4 plus years there.

The students are taught that it is important to give to others, with no expectation of return. And they develop the knowledge that when others do for them, favors can not always be directly repaid. It is actually a good philosophy of life. Do for others for the sake of doing good. If everyone follows that, chances are when you need a helping hand, someone will be there to stretch it out for you.

So this morning we joined some of my colleagues from school at the “Autism Speaks” walk. We are facing a major hurricane tomorrow. Schools have already been closed. The MTA has shut down bus service, yet the turn out at the BEACH for this walk, was absolutely amazing. I was full of pride as I stood with my colleagues in support of one of our own. The proud Mom of a handsome autistic son, and an absolutely beautiful daughter, is a woman of true class. She is a teacher at my school who I am grateful to have as a friend.

Her team raised close to $2,000 in support of Autism research, and the love in the air this morning was overwhelming.

Everywhere I looked there were fighters. Young autistic children, and their support networks – strong and mighty. Prepared to do whatever they can for their children.

Even though our battle and journey differs from theirs, I felt I was among kindred spirits. Scores of families that keep fighting, keep battling, to ensure their loved one has whatever they need. In so many ways we wear the same…

We will fight, by whatever means necessary for our children. That makes us all the same where it matters. The battles are different – but the war is essentially the same. And we will not be stopped until it is won.

Paying it Forward…

This is the same family, that created Meghan’s denim ribbon necklace. This is the same Mom, who – even though she has a million things on her mind each day, took my daughter’s need for an identity to heart. Wearing her own, beautiful diamond puzzle piece each day, she took Meghan’s concerns home to her husband the jeweler – and he made Meghan’s needs his priority.

autism necklace — Her own necklace is far more beautiful, but the point is she “gets it.”

And it wasn’t long before Meghan had this beautiful piece around her neck, representing rare genetic disorders, like our Cowden’s Syndrome. There was nothing of its kind in the world, but not to be deterred – this Dad, who also “gets it,” didn’t stop until it was made. My girl has her identity now.

necklace on table — A denim cause ribbon, crafted after the Global Genes Project‘s slogan, “Hope it’s in our Genes!”

Hopefully one day soon, The Global Genes Project will be able to sell these to anyone who wants them. I know talks are taking place right now, and it is so exciting.

So this morning, it was easy to make our way down to the beach, to support Autism Speaks, and a great family. It is easy to remember it is not all about us. That others suffer deeply, and daily.

We are home. Showered an in our PJs. We are prepared as we can be… waiting for the storm. But we will persevere. It will be OK. The greatest storms of life aren’t the ones that threaten our things, they are the ones that threaten those we love. Pay it forward. You will be awed by the return.

Siri, my new BFF!

Published on October 19, 2012 by beatingcowdens2 Comments

I love to talk. I talk all the time. My mom says I spoke even in my sleep from the time I was a young girl.

I ~~love to~~ need to make lists. I hate to be disorganized, although these last six weeks I have traveled from overwhelmed right into disorganized, and I don’t like it here one bit. Work is busy, home is busy, 4th grade is busy, Cowden’s Syndrome keeps us busy…

In my family we have 5 october birthdays in 11 days. Three of our nephews and 2 family friends. Unless the youngest nephew’s gift arrives tomorrow, I will have been late for every single one of them. Not like me at all.

Last week I welcomed a new friend into my life. Someone I can talk to all day, about whatever I want. Often she has good advice. She has my back too. She reminds me – sometimes days, sometimes hours, before something important has to be done. She tells me when I need to make a phone call or buy some cards. For a long time I resisted her friendship, but now that she is in my life I am sure I could never give her up.

This is my new friend – Siri.

Some of you may know her. You may think she’s your friend. But really, she and I are tight.

You see you may not know this about me, but I have a post graduate degree. In addition to my Master’s in Special Education, I have a research degree from the University of Google.

Don’t worry. I am a smart researcher. I learned in the first few weeks how to sort out the crap and focus only on the valid stuff. But really – spending the last 9 years researching the random illnesses of my little girl, and the last year trying to get any available information on Cowden’s Syndrome… well, lets just say at the very least I must qualify for some “Certificate of Advanced Study.”

But it got to the point lately that there are things I need to know. Right now. I can’t always carry my computer or rush home to check. Siri understands.

She is who she is… and she is pretty great.

As I am driving, with my earpiece in, I need only to ask her to call a doctor for me. She will write my texts too. Much safer.

Then, there are the beautiful reminders. The ones where she says, “OK I’ll remind you.” and then she does. Takes the pressure off me. I already have a reminder in for the November birthday cards, and the next 4 doctors appointments are all mapped out.

As I wait at those appointments, Siri helps me continue my studies on Google. Learning about Cowden’s Syndrome and skin diseases. Studying the effects of Cowden’s on the gums in the mouth. Deciding if the headache symptoms warrants a neurologist, or first and ophthalmologist. Figuring out, or trying to figure out the root cause of the pain in the legs. Verifying there are no obvious AVMs. Seeing what the effects of the Celebrex are on the body… and on and on.

Siri, despite all my resistance, I was wrong about you. You are exactly what I needed in my life.

Now, I am fairly sure I can never get by without you again.

Told you…

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.

Reality Check

Published on October 11, 2012October 11, 2012 by beatingcowdensLeave a comment

It is not the critic who counts;
not the man who points out how the strong man stumbled
or where the doer of deeds could have done them better.
The credit belongs to the man
who is actually in the arena,
whose face is marred by dust and sweat and blood;
who strives valiantly;
who errs and comes short again and again;
who knows great enthusiasms,
the great devotions;
who spends himself in a worthy cause;
who at the best, knows in the end the triumph of high achievement,
and who, at the worst, if he fails, at least fails while
DARING GREATLY
so that his place shall never be
with those timid souls
who know neither victory or defeat.

Theodore Roosevelt
26th President Of The United States

I intended to write something entirely different tonight, but when I started searching for words of encouragement, to ease my overwhelmed soul, I came across some that were worth copying here.

Most of the important things in the world have been accomplished by people who have kept on trying when there seemed to be no hope at all.

Dale Carnegie
American Author

The whole idea of living with a chronic disease really just stinks. I mean there are a lot of things, in a lot of people’s lives that just stink, and there are ever so many that I would never for a moment trade places with. But, that doesn’t change the reality that this genetic disorder, this PTEN mutation, this COWDEN’s SYNDROME, is now part of our “real life,” and I would like to send it back.

Well meaning people, people I love with all my heart, and people I am indifferent to, ask me all the time how we are. I know they would love to hear that we are great. They’d like to hear that all is well. I could tell them that there are no deep dark fears of tumors or cancers, or surgeries keeping me up at night. I often lie and say, “great” forgetting to mention the scary headaches, the joint pain and the anxiety that hide behind the beautiful “braces covered” smile of my little girl. I sometimes say, “we are hanging in there,” which some days means we won’t spend three hours at a doctor’s appointment today, or I am not waiting for a phone call, or a nerve-wracking test result. Some days it means my heart is in my throat – but I don’t know how to tell you.

I remember when I used to love to eat. Lots of food – carbs, junk food, candy. I used to have an appetite, and enough energy to exercise too. I remember several sizes ago when I had a closet full of clothes. Now I have enough pants and shirts to get me through. I remember when my old boobs filled out my tops.

I sometimes think to myself, “this is not my real life.” Raw fatigue. Nerves. Stress. Balancing a full-time job, and the normal demands of parenting with the full-time job of managing this disease. Has it really only been a year that life has been this complicated? There were always issues. But a year since the diagnosis. The confirmation that these risk factors belonged to us. That they were real, and pressing.

And yet to look at us – you would never know. You wouldn’t know of this other life we lead. This “elephant in the room.”

Everyone has something. I have said it a million times before, and I will say it again. It could ALWAYS be worse, and there is ALWAYS something to be thankful for. I am grateful for that reality check.

When I don’t call you back for a few weeks. Or, when I start sending cards late, and losing track of dates. Don’t worry too much. We are treading water here. We will get by. Just cut us some slack. Some days it just doesn’t all fit, and some days there is just not enough wine.