“I am the Lorax, I speak for the trees.”

The call came to my cell phone on a Friday afternoon a few weeks ago.  It took me a few minutes to process that Sharon from the Teddy Atlas Foundation was telling me Meghan had been selected to receive the  Dr. Theodore A. Atlas Humanitarian Award.  The award is named for a local physician who epitomized the concept of what it meant to be a physician through more than a half century of people centered care on Staten Island.

Dr. Theodore A. Atlas Biography

I knew of Dr. Atlas, who did most of his work before my time, because I followed the work of the foundation, started by his son, Teddy Atlas Jr.  The Dr. Theodore A. Atlas Foundation is a name known to locals who are inspired by stories of people helping people.  I had watched this foundation through the years, grateful that people who genuinely want to help are not afraid to just do it.

Teddy Atlas Biography

I know I stumbled, and may have sounded like a bumbling fool as I asked her to repeat herself.  “Yes,” Meghan will accept gratefully, I replied without asking.  I was given the date and time for the dinner.

I’m not sure either of us really grasped the enormity of the honor until we looked up the event on line.

Teddy Dinner celebrity line-up

We had just struggled to get 100 people in a room for a fundraiser.  Here they were looking at close to a thousand – from big names to community favorites.

When she learned she’d need to give a brief acceptance speech, she took a deep breath, and then thought.  A whole lot.

We talked about humanitarian, as a word and as a concept.  The more we bounced it around, the more we both knew the concept suited her.  Meghan has always wanted to make a difference.  She has always done what she can to speak for those who can not speak for themselves.  She is not sure what her future career will be, but she is sure that she must know she is ‘helping.’

We talked about quotes.  I gave a few suggestions.  She came back to me with Dr. Seuss.  She nailed it.  As usual.

The Lorax speaks for the trees.  They can not speak for themselves, so the Lorax advocates for them.  It resonated with her.

Here is Meghan’s speech:

Good evening, I am extremely humbled and grateful to be standing before you tonight.
When I was 7 I never thought my life would turn out this way. I never thought I’d be accepting a prestigious humanitarian award. When I was 8 and my life was turned upside down by a diagnosis I didn’t understand, I was in shock. By the time I was nine, I realized that no one even knew what my disease was. Then I realized that if I didn’t do something, there was a chance no one else ever would.
Cowden’s Syndrome is a mutation on the PTEN Gene, a tumor suppressor gene. Because of this disorder I have extremely high cancer risks, and grow a lot of tumors. I am in the hospital being poked and prodded on a regular basis. I am constantly scanned and monitored. Every time I step into a doctor’s office I am holding my breath, praying that I will get even just two more months of peace, without a procedure. I am 15, and I have had 18 surgeries. This disease has tried to break me over, and over again. And, because of this, with each passing day I become more determined to overcome these challenges, win my daily battles, and lend a helping hand to others in need.
I am living the life of a rare disease patient. I am closely acquainted with the downfalls and struggles of my disease, and others. Because of this, I am fully cognizant that there is very little awareness about rare genetic disorders. Some of these disorders are fatal, and others can just make your daily life torturous.  
My disorder specifically is sometimes classified as an “invisible illness.’ No one sees my scars and my struggles because I don’t ‘look sick.’ I present as a healthy and intelligent teenager. When I was little I used to wish all my scars were able to be seen, and that they were all over my skin. I thought that maybe people would start understanding what patients like me go through a bit more if they saw some of the ramifications of these diseases.
Cowden’s Syndrome has not just impacted my body. There are undeniable, severe mental ramifications that have come with my struggles. I have a depressive disorder, an anxiety disorder, and PTSD secondary to medical trauma. In no way am I even close to normal. I have to fight ten times harder for what someone else can do physically. I struggle mentally to live a normal live and get past the anxieties that control my daily life.
I have been bullied since elementary school there are some days where I come home, curl up in a ball and cry. It’s really hard to make friends when you’re at the doctor so much, and it’s even harder to deal with teenage drama when you’ve had to act so much older then you are your whole life. Whether it’s been because I’m different and they don’t understand, or because I catch on to things quickly, I always find myself that kid with the target on my back for bullies.
People like to say to ‘not let your hardships define you.’ Personally, I think that’s idealistic and impossible. The events that you have gone through in your life have created who you are. Sometimes I wonder what life would be like if I did not have this rare disease. Then I shake myself out of it, and realize that I’m a pretty cool person who has the ability to change lives. And, that if I didn’t have Cowden’s Syndrome, I wouldn’t be growing into the person I am.
My mother and I host annual fundraisers called “Jeans for Rare Genes.” They started out with all of the profits being donated to the Global Genes Foundation, a 401C3 organization that raises money around the world for the purpose of providing support to patients with rare diseases. Then, the PTEN Foundation, an organization specifically devoted to patients with PTEN Hamartoma Tumor Syndrome (Cowden’s Syndrome) was born. Once this organization was created, we began fundraising for them. To this day, our annual fundraiser is one of the biggest donations that goes into this organization and I am proud to know that our work is making a difference.
There are less than 2,000 diagnosed Cowden’s Syndrome patients in the US. Sometimes it is hard to see the light at the end of a lonely tunnel.  The PTEN Foundation is close to putting up a patient powered registry that will start things moving in the right direction. We have a long way to go.  We need funding for research, and then we need medication and hopefully a cure. There is far too little awareness about Cowden’s syndrome and all rare diseases in general. They are very real, and very present in our society.
This honor will serve as a stepping stone for me. My awareness efforts are not nearly done. In fact, I view this as a new chapter in my life, where I will have the confidence and courage, needed to continue raising funds and awareness, and that I may hopefully be a part of changing the lives of other rare disease patients.  
In the words of the Lorax in the famous Dr. Seuss book, “Unless someone like you cares a whole awful lot, nothing is going to get better. It’s not.”
With the number of people who care in this room tonight, I look forward to a future of hope and promise. Thank you.

The speech ended with Teddy Atlas committing $5,000 to the PTEN Foundation on Meghan’s behalf.

It made me extra glad that Kristin, the PTEN Foundation President, who has become a dear friend, had made her way to New York from Alabama to celebrate with us.

Yesterday, November 15, 2018, NYC was almost totally crippled by an unexpected snow storm.  In all of my years here I have never ever seen anything like it.  I have seen worse storms, but NEVER the crippling state of things I saw yesterday.  I left work to get Meghan at school at 2:20.  On a busy day it takes me 22 minutes to arrive at her school for pick up.  At 4:10, after crawling for HOURS and getting so close,  I was being pushed up a hill out of a pile of snow.  I was in such a state, feeling frantic that I was literally not able to get to her.  And even though I knew she was safe, it was a helpless feeling I’m not looking to duplicate any time soon.

November 15, 2018

At 4:15 she sat in my car while we turned around to head back.  At 5:35 the 8 mile round trip was complete, but we weren’t out of trouble.  Three hours on the road and I never saw a plow or a salt truck.

My parents agreed to drive in their very capable pick up truck.  My husband made it safely off the bus from Manhattan.  It was far from the poised and put together departure I had hoped for, but we got there.

I’m not going to lie, there were a few moments there where I thought, “WHAT THE HECK?  Why does EVERYTHING have to be surrounded by drama?”

But I pulled myself together.  There are far bigger problems in the world.  We made it.  We were safe.  We were together.  Meghan’s dear friend greeted us there.  I looked around and soaked up the enormity of the honor my 15 year old was receiving.

I looked around the room full of energetic, generous spirits.

I looked in the booklet on the table and found this.  Despite a few minor errors, the idea that this was published here.  Now.  For everyone.  Well, it kind of blew me away.

I listened while Ciaran Sheehan sang, with chills down my spine.  Having played leading roles in two of Meghan’s favorite Broadway shows, “Les Miserables,” and “Phantom of the Opera,” he was the one she wanted to meet.  And she did.

My girl is not perfect.  She struggles.  We argue.  She sometimes acts like a teenage girl and I have to remind myself she is one.  She is intense.  She is focused.  She is determined.  She is deeply principled.

She is learning to find balance.  She is learning to laugh.  She is learning to pause.  To believe.  She is letting herself be successful.  She is working daily on becoming the best version of herself.  She is my hero.

And Meghan, as one of the “trees,” I am happy to have a “Lorax” like you.

Because as Dr. Seuss said, “Unless someone like you cares a whole awful lot, nothing is going to get better.  It’s not.”

You are way more than

#beatingcowdens

You’re going places kid.  And I’m so grateful to be along for the ride.

It’s possible…

It is possible to have conflicting emotions and have them all be true.

It is possible to feel so tired you wonder how you will function, and simultaneously grateful for the very things that made you so tired.

It is possible to be full of angst about a schedule that just will not quit, and fully excited that your child is capable of outrunning you.  Finally.  I waited a long time to be more wiped out than she is!

It is possible to feel worried about this week’s pending orthopedic appointment and the news it may bring, while gratefully celebrating your child’s swimming medals from the week before.

It is possible to have anxiety about when the next surgical procedure will come, while gleefully extending the number of days it’s been since the last one to record setting lengths.

It is possible to have a deep unshakable sadness on certain days, months or even seasons, while still appreciating the best daughter and husband ever.

It is possible to feel like having and loving someone with a chronic illness leaves you in shackles, while every day being grateful for them and  time you have to hug each other.

It is possible to live with people who literally complete your soul, and still sometimes need time with other people.  Just because.

It is possible to feel lonely in a full house by the design of your own head and not the people in it.

It is possible to be a pit bull advocate for your child, while wishing you could be a happy yellow lab and get the same results.

It is possible to really want to spend time with friends, but to posture as if you’re too busy so as to protect yourself from inevitable schedule changes and conflicts without having to say “no” again and again.

It is possible to want to talk, but to realize you haven’t much to say that isn’t about topics too tough for casual conversation. (Note to self – try to watch more TV.)

It is possible to have such a deep understanding of the rare disease plaguing you and your child that you are sometimes terrified of the path you will need to travel.  It is possible to be terrified, while full of gratitude for the warning system and vigilance that will allow that path to be long – together.

It is possible to know the road in front of you is still arduous while looking back and simply saying, “Wow, we’ve come SO FAR!”

It is possible to fully understand the reality that life is uncertain for EVERYONE, while processing the gravity of a rare, cancer causing genetic disorder.

It is possible to love the ones your with, while still deeply missing so many of the ones that have gone before, some even decades before.

It is possible the mail order pharmacy uses a dart board to determine their policies each time you call.

It is possible the hospital actually does have BOTH insurance cards in the computer in the right order, and they are just messing with you.

It is possible that the china closet may just not get cleaned and washed for the holidays, and that for the first time you may just be ok with it.

It is possible that the entire holiday shopping list will be handled on line, because those are the hours that work for me.

It is possible that some days, weeks, and months leave you with more conflicted feelings than others.

It is possible because I live it.

And it doesn’t have to make sense to anyone else.

Today it’s really just about my own brain.

And those are my random thoughts…

#beatingcowdens

#thisisfortyfive

 

 

 

(Living) “In Prep for the Climb” – PTEN Awareness Day 10/23/18

I’m aware of Breast Cancer.  As a survivor now of 6 years and the daughter of a 21 year survivor, I am aware as I dry from my shower facing my mastectomy scars every morning, that breast cancer is reality.  As my Facebook feed and my memory are both too full of those we have lost and those who still face this disease, we are aware.  What I wonder, is how much help is the awareness?  It is a topic that could be debated forever, but I’ll change gears first.

Something else I am very aware of is the PTEN gene located on chromosome 10q23, and the perils its associated mutations can cause.  So when the PTEN Foundation let us know that 10/23 was designated PTEN Awareness Day, we were all in.

This blog has, for years been designated to the ups and downs of this mother- daughter duo dealing with Cowden’s Syndrome, the diagnosis we both received in late 2011 after a PTEN mutation was first diagnosed in Meghan, and weeks later in me.

The few years following were an absolute whirlwind of appointments, scans, screenings and surgeries.  We worked to keep our heads above water and just exist.  We considered keeping my job, and maintaining honors status in her school quite the accomplishment.

We were told things over and over, like “don’t let it define you…”

I’ve got some news for you.  You can only walk so far into the fire without retaining the scars.

True awareness of PTEN for us comes with comprehension of the gravity that you have to remain in a vigilant stance of preparation, awaiting attack from your own body at all times.  PTEN patients have ridiculous cancer risks pretty much all throughout, and the VIGILANCE required to stay ahead is utterly grueling.

We are faced with choices to keep the most high risk organs, or remove them prophylactic ally.  We are asked to play the odds.  With our bodies. All the time.

With Meghan the AVM (Arteriovenous Malformation) in her right knee, though quiet now, has caused damage she will deal with forever.  She is 15.  God willing she will walk on those legs another 80 years, each day aware of the pain, and of the symmetry removed from her body forever.

When you have to be vigilant, you have to plan.  There are trades.  You have to decide if you’ll miss school with friends and fall behind in classes or give up the breaks designed to recharge you.

There are no breaks.  February – months away has 3/5 of its break and 2 other days devoted to appointments.  Martin Luther King Jr. Day in January.  Yep – that one too.  Don’t worry, the brain MRI is scheduled for April break….

You have to pick and choose.  And the decisions are hard.  You want to give it all to everything, but HOURS of your world are wasted in bumper to bumper traffic, waiting for the hopeful news that you have another 6 months before you come back.  And if, in fact you don’t get that news the schedule is tossed and it’s game on for scans, analysis and biopsies.

The pain.  No one can really tell us yet from why, but it seems to exist throughout.  The fatigue.  Maybe the thyroid issues, maybe some immunological stuff.  Maybe some connection yet to be determined.  But it’s real.

It’s as real as the number of times we had to decline invitations before most people stopped asking.

We’re not blowing you off.  We’re holding it together – by a shoestring.

Chronic Illness is hard to live, and we get that it’s difficult to watch.  But, it’s real.  And short of a cure, it will never “run it’s course.”  It will not BE us, but it will be PART of us – FOREVER.

“You don’t look sick…”

“You don’t look anxious…”

No, as a matter of fact she looks strong and determined.  She’s been practicing for quite some time.

Sometimes I have to bite my tongue to keep from replying, “You don’t LOOK ignorant either – but at least you can fix that if you WANT to…”

Our rare disease journey has opened our eyes to not only PTEN disorders, but “Lhermitte-Duclos disease,” “Nail-Patella Syndrome,” “Lynch Syndrome,” “Spinal Muscular Atrophy,” “Muscular Dystrophy,” “Neimann- Pic Disease,” ” Neurofibromatosis,” “Acute Myeloid Leukemia” to name just the very tip of the iceberg.  I am more aware than every that everyone struggles.

I’m also a big fan of real pure awareness, for the sake of learning something about other humans I share the planet with.

One of the humans I share my home with has grown up in a totally different direction courtesy of this disease.  And while I am grateful for her diagnosis, as it surely saved my own life, I am sad that she has had to see so much, and manage so much already in her life.

So today, on 10/23, if you’re not living with it yourself, direct yourself to http://www.PTENFoundation.org, or the PTEN Facebook Page and learn an little more about PTEN.

My own girl is working every day to make herself better, physically, mentally and emotionally.  When I have down days, or I just don’t feel well, she reminds me to forgive myself.  “You have it too Mom.”  Indeed I do, and it’s quite a ride…

“Prep for the Climb” Disney’s Hollywood Studios

Together we prepare for the climb each day – and seek out that ‘One Perfect Moment’

For as much as this disease has taken, I am grateful that she is starting to take back control, and is finding her voice as an advocate for herself and others.  (And I love listening to her sing too…)

#Beatingcowdens

Bring It On the Musical – One Perfect Moment Lyrics
2012 Broadway
Bring It On the Musical – One Perfect Moment Lyrics
I’m not freaking out, I’m really okay
I’m totally chill or I will be someday
‘Cause I’m so near the top but there’s so many mountains to climb
There are plans to be planned, drills to be drilled
‘Cause this dream that I’ve dreamed is becoming fulfilled
And I plan to enjoy it but right now, I don’t have the timeFade in on Campbell, an average teenager almost grown
Close-up on average grades from the average life she’s known
Now zoom in the lens on the rest of her friends as she stay alone
Doing the work, getting it right

‘Cause I know we’ll have to be practically perfect
So I’ll go above and beyond and pull through, this I can do
All that I’m asking is one perfect moment in time

I’m seventeen, there are so many things that I can’t control
If I start to freak, or feel weak, I focus on just one goal
Turn down the panic, attack this routine like it owns my soul
Turn up the music so loud that it swallows us whole
And then there we are, we burn like a star
We’re safe inside the world we know
Then suddenly I’m in prep for the climb and here I go
High in the air, there is a moment just before you start to fall
Live in that one moment

I know that if I can just stick the landing
Then I’ll know that somehow my life will be fine
And I’ll go through the rest of my life understanding
What it feels like to shine
The future’s full of mysteries
So please let this be mine
My one perfect moment in time

No Excuses. No Apologies.

Recently I asked that Meghan’s “Present Levels of Performance” on her IEP be updated.  She no longer receives many services, but I find great value in keeping this section current.

There is a great deal of misunderstanding involving Individualized Education Plans (or IEPs) and many people feel only children who struggle academically have an IEP.  This is just not true.

My daughter has had one in place since Kindergarten.  She has consistently maintained high honors, and as a matter of fact was Salutatorian of her 8th grade class, and is in an intensely challenging International Baccalaureate program at her high school.

IEPs by definition, are to “Individualize” the Education Program as needed.  Meghan’s needs are not academic, as much as they are residual connected to the Cowden’s Syndrome, the PTSD, and the medical trauma.  The resulting anxiety affects every area of life, and is far deeper than “teenage angst.”  We work extensively outside of school to address this in many ways, but sometimes we need the school to be on the same page.

Much like you give a medical history to a doctor when you see them for the first time, and you update as situations change, the IEP is to be fluid and updated as changes occur so all personnel will be aware of Meghan’s needs.

I make a habit on the first day of school of copying a few key pages of the document and giving it to her teachers.  Even though they have access, and technically it is their responsibility, I am also a teacher.  I get the pressures placed on us.  So, I make their lives easier by giving them what they need and an invitation to reach out to me with any questions.  Her teachers are historically receptive and appreciative.

This year I was reviewing that section on the document realizing how much was no longer accurate, and how it should be more detailed.

I sat with Meghan to write the summary below:

Meghan is a 15-year-old sophomore in the IB program at School.  Academically she is consistently above average in her classes, attaining high honors every marking period for the 2017-2018 school year.

She is a student athlete as well, participating on the School varsity swim team, as well as Trident Aquatics, a 12 month competitive swim program on the Island.

Meghan has several medical diagnoses.  The most far-reaching is “Cowden’s Syndrome” a mutation on the PTEN (tumor suppressor) Gene, causing benign and malignant tumors as well as vascular malformations.  Recently PTEN mutations have been correlated with low levels of (infection fighting) immunoglobulins, which Meghan also suffers with.

Because of the low immunoglobulin levels Meghan has frequent infections that often require antibiotics for resolution.  She suffers with gastrointestinal distress with each course, and needs to avoid gluten and soy.  She also has an allergy to dairy.

Meghan’s medical challenges are far-reaching.  She has had 18 surgeries, 8 of which have been on her right knee.  There was an arteriovenous malformation (AVM) in that knee.  While it has been controlled, the long-term effects will last forever.  Meghan has leg and foot discrepancies on her right side.  The blood was restricted from flowing to her right foot for so long, that it stopped growing 6 years ago.  The left foot is a full size larger than the right foot.  That right-sided weakness has been repeatedly treated in physical therapy, but still presents as a struggle with stairs, and long walks.  While she endures these activities, they can cause pain and excessive fatigue, and extra time may be necessary between classes located far apart.

Meghan had her thyroid removed in 2014 and the resulting need for synthetic medication has yet to be regulated.  Her current endocrinologist follows her 4 times a year, adjusting, tailoring, and trying to balance her levels.

Meghan had 2 D&C procedures during 7th grade.  Those procedures yielded precancerous tissue in her uterus and prompted the need for birth control pills to try to stop the cellular growth.  Those pills have also been difficult to regulate and balance.

Meghan has been hospitalized countless times in addition to her surgeries.  She has also undergone over 30 MRIs and close to 10CT scans, each requiring IV.  She spends countless hours being poked and prodded at doctors, monitoring her cancer risks.  She is acutely aware of her mortality at an age when most teens are barely aware of their social interests.

In the spring of 2017 Meghan was diagnosed with Post Traumatic Stress Disorder, secondary to extensive medical trauma.  She was also diagnosed with major depressive disorder.

In the fall of 2017 Meghan began to develop panic attacks.  Subsequently, she has also been treated for panic and generalized anxiety disorder.

She sees a social worker weekly and has guidance on her IEP in school.  She sees a psychiatrist monthly who manages the medication, which currently consists of and antidepressant and another script for panic attacks.

The panic attacks were well controlled for a time, but flare up in acute anxiety.  This summer saw several severe episodes.  We are working together to help her through all of this.

Meghan is waiting for a service dog, which should arrive in the next 4-6 months, to address the PTSD.  In the mean time, we are teaching strategies to deal with necessary stress, and tools to eliminate unnecessary stress.

I presented this document to the team to update the IEP.  I was a little startled when I was met first with a challenge on the diagnoses.  No problem I told them.  I would send the doctor’s notes.

I love her school, I do.  But, I was in fact also told “She doesn’t LOOK sick”  and “She doesn’t LOOK stressed.”  While I had to breathe a few times before responding, I came up with “You’re welcome…”

We’ve worked quite hard on all of that.  My girl has goals.  Life goals.

Last week Meghan was approached to remove the section regarding the D&Cs from the document above.  She declined.  She was pushed, and told the information was “far too personal.”

Forever practical, Meghan reminded them the document was about her, and should include factual information.

Again pressed, she reminded the staff she helped write the document they were holding.  She wanted and NEEDED her teachers to understand the validity behind her anxiety and PTSD symptoms.

The final time they told her the information was too personal she reminded them that she had done nothing wrong, and had nothing to be embarrassed about.  Meghan is a factual child.  She likes actual truth being reported.  She knows better than to be embarrassed about truth.  She knows ugly truth is a real part of life with Cowden’s Syndrome.  She also knows that secrets give power to things that don’t deserve it.

These things happened to her.

She did not ask for them.

She did not cause them.

She will not hide them.

She will not apologize for them.

She will not let them define her.

But the things that happen to us do change us.  HOW they change us is the only thing we can work to control.

I will continue to work the Mom end to get this updated.

I am beyond proud of her growing confidence, and her desire to educate.

I am proud of her desire to be a scholar and an athlete in spite of all the adversity.

I am proud of her respect for the clock as she grows as a swimmer, and her desire to be the same as everyone else, by beating the same clock.

My girl is, and shall remain

#beatingcowdens

And that is why we continue to work on the journey towards treatments and a cure.

Please consider joining us or making a contribution.  You can reach us at jfrg.pten@gmail.com

Tragedy Surrounded by Love

My cousin Kim stood, graveside, holding 2 flowers over the 7 month baby bump under her black dress.  Two roses.  One was red and the other was pink.  One was for her, and the other for baby Mackenzie.  It was time to lay to rest her husband, and the father Mackenzie will only know through the stories and photos a strong community will share with her forever.

Exactly a week earlier we gathered together in joyful celebration to shower Kim and Nando with love for Baby Mackenzie, due in November.  Little pink clothes, laughter, anticipation and love for a baby they waited so long to have.

The next day he was gone.  That fast.

He was one of five children, and part of a large family.

My family, Kim’s family is large as well.  Our fathers were brothers, in a family of 9 children, and although mine passed away in 2013, the love shared by all runs deep.  We are close to 30 first cousins thick.  The second cousins are starting to increase in number.

I sat in the funeral home in stunned silence most of the time.  But, the room was crowded, the lines were long, and the hugs and tears were all genuine.

I didn’t know Nando as well as many others.  As a matter of fact, I wish I had known him better.  Clearly, judging by community response and turnout, he carried the same heart as my cousin Kim in his larger than life body.

I can’t make a bit of sense out of any of it.  So I have to lean on my faith, and do whatever I can to offer support.  Sometimes tragedy just is…

Kim is strong, almost stoic.  She is a mother already, carefully shielding my newest little cousin from the anguish in her heart.  This beautiful baby will bring joy to so many.

We do not know the hour…

Tomorrow is not promised on this earth…

When we talk about #beatingcowdens, we talk about vigilance.  We talk about a warning system.  We already know what we are up against.  So often I can’t help but wonder how many people would give anything to have had warning.

It’s all perspective.  Sometimes I have to pause here and tell a story that is not about us.  That is not about Cowden’s Syndrome.

There is a generosity of spirit that lives in so many.  I witnessed it last week in a community outpouring of love.

My Uncle put it into words about his son-in-law.

Although I am not surprised.

I have received that generosity of spirit from Kim and Nando, and the family so many times.

Pay it forward.  The idea that you do good things with no expectation of repayment.  That’s how they live.  This week we got to witness a little bit of the good that comes from living life for others.

More than one person my cousin works with, sat with me at the funeral parlor to ask about Meghan and I.  I didn’t know them.  They knew of our story through Kim.

Currently our fundraiser for the PTEN Foundation is scheduled for 10/28.  I contacted my Aunt, and asked if we should cancel.  I needed to know if it was too close.  I would never ever want to be disrespectful.

The response?

Don’t cancel.  Kim plans to be there.

I guess that’s just what family does for each other.  And there is always plenty of room at our table.

Pull up a chair.  We’re in it for the long haul- together.

 

Jeans for Rare Genes 4

As we plan our next fundraiser, we are doing things a little differently.

We are shipping orders for  T-shirts within the US.

The shirt looks like this:

If interested- shirts are $20 plus shipping.

Shipping is $7 for 1 and $13 for 2 (Priority Mail)

Please include shipping costs in your payment, and send a check payable to the PTEN Foundation to: PO Box 140163 Staten Island, NY 10314

Right now I am only shipping in the US.

If you are attending the event- you may pre-order your shirt by letting me know the size you need, and committing to pay with your ticket.  Those attending the event, the T-shirts will be $15.

Looking forward to supporting the PTEN Foundation http://www.ptenfoundation.org

#beatingcowdens

Double Edged Sword

I remember as a young girl, and even a teenager, having the phone pretty much attached to my ear all the time.  I remember being so excited when we got a cord long enough for me to bring the phone into my room.  I remember calling people, and being so frustrated at busy signals.  I don’t remember much of what I talked about for all those hours, but I liked it.

When I went to college, I went with an electronic typewriter with a 4 line display.  It was state of the art.  In my dorm there were computers in the common area and people were just beginning to really Email.  There were no cell phones.  We knocked on each other’s doors and spread word through friends when we were getting together.

It’s now been 23 years since I graduated from college.  I’m coming to understand the generations before me.  Perhaps some of the discontent with things changing was a foreboding sense of where it was leading.

I don’t go far without a cell phone in hand.  I “google” like it is my full-time job.  I’d rather text than call, and I am guilty of putting only the “perfect” images on my social media accounts.  I “keep in touch” through photos of friends children.  Some of these children are teenagers now.  Many of them I have never even met.

I wish “Happy Birthday” on Facebook after it reminds me, and rarely send a card.  I delude myself into feeling “in touch” when really we’ve lost all track of each other.

I’m watching a generation grow that thinks its acceptable to post all kinds of photos of themselves, inevitably trying to look older than they are, in a forum where nothing is truly private at all.

I’m not saying we had it all correct by any means.  I was guilty as the next of trying to impress “popular” kids, or to fit in.  There were mean kids.  There were those who isolated.  We passed notes.  But, we didn’t post our comings and goings for the world to see.  I was blissfully unaware of who went where, unless I was there.  If we took photos it was the real deal.  There were no filters.

The internet, and the social media craze that has followed is the proverbial “double-edged sword”.

Living with, and having a child with, a rare genetic disorder means I have to do most of our research here.  Most doctors lack the time, the knowledge, or the desire, to entertain my instincts.  I may not be a doctor, but I am an expert on Meghan.  I have been able to learn through trusted medical journals and intelligent internet connections, more than I would have ever been able to learn 25 or 30 years ago.

Meghan has had medical problems since day 1, and I have had the privilege of advocating for her since then.  I have “met” parents through online support groups, and have soaked up their advice like a dry sponge.  Parents go out of their way to help other parents, and it is a community like no other.  Without the internet I would have been traveling this journey largely alone.

There were multiple diagnoses before the PTEN Hamartoma Tumor Syndrome (Cowden’s Syndrome) diagnosis in 2011.  And, truth be told, I suspect there are still a few more coming our way.  During each step of the journey I have been able to connect with medical professionals and parents in ways that leave me forever grateful.

I am skilled at dealing with the insurance companies, the mail order pharmacy, and the collection agencies.  I am on-line so often, printing medical explanations of benefits, or fighting for treatment courses that I know are necessary.

I have become well versed in the laws surrounding Individualized Education Plans, (IEPs) and have secured necessary accommodations for an honor student battling PTSD largely from the fallout of a rare genetic disorder.

We fund raise for the PTEN Foundation, in hopes of one day soon allowing a patient powered registry that can lead us to treatment, and maybe even a cure.

All of this is possible through social media and the internet.

These are the same forums that allow people to think they are “in touch” without ever hearing each other speak.  These are the same forums that allow teens and adults alike to think it is ok to be insufferable or mean because they don’t have to look the other person in the eye while they do it.  It is these same forums that claim to bring us all together, that are causing what I fear is irreparable social damage.  A generation of children who aspire to impossible ideals and feel they are not good enough, are growing up.  They have the world at their fingertips.  Will they have the skills to access it through human interaction?

I don’t know what it is like to live anyone else’s life.  Maybe there are similarities, or maybe my views are odd.  I blog to give an honest account of life in this house, with these challenges, because I too have found comfort in knowing I am not alone.  At least theoretically.

I am always busy.  Sometimes I don’t choose it, and sometimes I choose it without realizing it.  I am so used to being in motion, not having a full agenda is confusing.  It is also very very rare.  My only speeds are “go” and “off”.

Chronic illness can easily run your life.  When every ounce of strength must be used to create the illusion of normalcy, there is not much time to be “normal”.  When you can not predict the health crises that exist daily, or the new ones that crop up at a moment’s notice, it is hard to make plans to do much.

We are a family of 3.  My child is an only child.  She has all the benefits, and all the downfalls of that status.  We have extended family.  I have friends.  Long time friends.  Old friends.   I know I could rely on them if it became time to wave the white flag.  But they are busy too.  And our time will come in a few short years when our children are off on their own.

My child does not have a built-in network.  My child has PTSD, and incredible anxiety.  She can sometimes have an abrasive personality.  But, she has more integrity and compassion in her than just about any other human I know.  You can’t pick any of that up off her Instagram. Or her SnapChat.  To really know her you’d have to talk to her.  The old-fashioned way.

That very network that has allowed me to learn so much, to do so much, and to help so much, has also caused harm.  For both of us.

For me, it represents the easy way out.  Aside from a few support groups, I know people will tire quickly of hearing the same story over and over. So, it is easy to click “like,” post a few comments, and have at least a visual in my head of what’s going on.  But, it also leaves me with feelings of inadequacy.  Why can’t I get us to the beach?  Why can’t I plan day trips with actual humans without fear of having to cancel?

For her, it is a constant reminder of a “normal” life that she doesn’t have.  Whether it’s pain, medical appointments, food allergies, or anxiety, there is an isolation inherent in this world of chronic illness.

She speaks of the “Sword of Damocles” with regularity.  The history channel gives this explanation History Channel- Sword of Damocles (Go ahead, and click the link. It’s a worthwhile read.)  This analogy explains a life hard to comprehend, and impossible to describe.

The internet probably saved us.  Social media brought me to some of the smartest parents, living variations of our life.

Social media altered the scope of human relations with consequences we will see for generations.

The irony of it all perhaps is that this message reaches you through the double-edged sword of the internet.

I’m interested in hearing your comments.

We remain

#beatingcowdens

With all it’s “side effects”

One day at a time…