Champions of Hope – Global Genes Project

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

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

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

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

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

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

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

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

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

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

2013 “Tribute To Champions of Hope” Gala

2013 RARE Tribute to Champions of  Hope Gala

 

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

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

RARE Facts and Statistics

Statistics and Figures on Prevalence of Rare and Genetic Diseases

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

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

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

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

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

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

I have always wanted to be a doctor!
I have always wanted to be a doctor!

You Can’t Have a Rainbow Without a Little Rain

rainbow rain

As a young child a can remember hearing stories of rainbows in Sunday School.

This week I needed lots of reminders that I am not alone.  God keeps His promises.

Yesterday we saw Endocrinology at MSKCC in NYC.  They spent an hour and ten minutes preforming a detailed sonogram of Meghan’s thyroid.  She was an angel – calm and patient.  I watched the whole thing, uncomfortable with how much I am able to see on an ultrasound now.  The things we learn through repetition.

It was obvious to me that the many nodules – well over 10 – are still there.  At least three are quite large.  I watched as they were measured, and my “numbers” brain frantically tried to recall the stats from December that had led us to January’s biopsy.

We spent an hour waiting on the ninth floor, the pediatric cancer unit.  And as I have said before, and I will say again, if you ever need to count your blessings, I mean truly count them, I strongly suggest you swing by there.

rainbow not thunderstorm

Meghan played on her iPad as I watched.  Chemo pumps beeping.  Children from 2 to 20, some seasoned veterans, some terrified newcomers, attached as the poison to kill the evil cells drips into their body.  Some sleeping, some resting, some running.  And their parents. Dark eyes.  Worry.  Terror.  Fake smiles.  Bitten up coffee cups.  “Count your many blessings count them one by one…”

“Mom, I am not scared of thyroid cancer.  I am only scared if they don’t catch it early enough.”  I knew what she meant. She went back to playing.

In the doctor’s office there was a moment for us to be relieved, kind of.  The nodules are slightly larger, but are growing slowly.  They are still in that same “precancerous” state, but we are not in imminent danger.  No biopsy right now.  We get at  least another 6 months out of the thyroid.

Then there were the other conversations.  The ones about hormone levels that won’t regulate on lab work.  The MRI that showed a pituitary “diminutive in size.”  The inconsistencies of these tests with her current development.  The statement from the endocrinologist that this lab test (having already been repeated 4 times,) “defies human physiology.”

Yeah, and…

So he drew the labs again.  This time at “his” lab.  And a thyroid panel, and a few other things.

He’ll call me Monday.  Then I will find out more about “human physiology.”

At swim practice last night I met a mom.  She has an only child too, just about Meghan’s age.  And she is BRCA positive. So, after a day of doctors, somehow we were placed in each other’s path last night.  And, I had conversations with a virtual stranger that I probably haven’t had with some of my closest friends.  There are no coincidences.  Of this I am sure.

And this morning – barely able to move from stress and fatigue, salivating for a day of “vacation,”  we dragged ourselves out of bed again.

rainbow snoopy

I packed the bags – always bringing lunch and a few snacks, and we headed out – a little later than I wanted.  As I crossed the bridge I had the sinking feeling that I didn’t have my wallet.  Back across the bridge.  Back home.  Back out.  An accident on the FDR assured me that I couldn’t use the $14 parking coupon I had printed.  Into the $42 lot we went. We made it into the office at 10:03.

The vascular surgeon is uptown.  He has been inside of Meghan’s knee 4 times, so he knows her well.  This time we had less overall pain to report.  But, of course he never felt the pain was connected to the AVM anyway.  So I recounted tales from her PT evaluator, and her swim instructor about how difficult it is for her to run without limping, or to push off to start a race from the block  I had his attention.  The legs have different girth.  The left is undoubtedly stronger then the right, having been spared the AVM.  Do you take her for PT he asked?  Um… constantly.

Fortunately we love Dr. Jill!

We took her out of soccer and dance and put her in swimming.  There isn’t much else we can do.

Oh, and could you look at her wrist?  The one she hurt at the school carnival almost 4 weeks ago.  She was victorious at her quest to climb the rock wall.  Stubborn, competitive child.  But has paid the price since.

For a few days I told her to suck it up.  I admit it.  But it kept going.  Knowing Meghan as I do, she will keep me abreast of every pain – but the SECOND it stops, its like it never happened.  This one wasn’t quitting.  Dr. Jill helped us.  We tried a brace. Then another one.  Then no brace.  No better.

So as I watched the doctor manipulate her wrist I couldn’t help but remember my frustration the day after the carnival, when all of her friends walked around unscathed, and she suffered terribly with pain all over.  I remember thinking how cruel it was that she had to make a conscious decision to suffer in agony the next day – if she wanted to keep up with her friends.

He examined it for what seemed like forever.  Then he asked me who my orthopedist was.  I laughed out loud.  The one subspecialty we have NOT found – is pediatric orthopedics.  So he asked if she had a rheumatologist.  I said we were headed there July 9th.  He said try to move it up, and call him after I saw her.  She needs and MRI of that wrist.

“I don’t think it’s vascular…”  And after that we will get one of the knee – just to be safe.

There went two more days off the summer calendar.

40 blocks away was the geneticist.  He is the one we credit with saving my life.  And I credit the angels with placing him in our path two years ago.

We spoke at length.  He has more questions.  More research.  He has a theory.  He will call me.  He will send me the articles.  The conversation lasted an hour.  He is brilliant.

She hugged him and told him she wants to be a geneticist.  We have a friend for life.

The people training on the  new teacher evaluation system in NYC frequently declare “This is going to create more questions than answers.”  I don’t know why I find the system to be perplexing.  I should be used to it by now.

It rained tonight.  Thundershowers.  They have been happening a lot lately.  Maybe I need a lot of reminding.  The rainbows are there.  The promise remains.  Nothing happens by accident.  God’s timing is perfect.

6/28/13
6/28/13

Christmas Letter 2012, and some unexpected happenings

Disney – August 2012

This is the letter I send in my Christmas cards… shared for my “on line” friends.

“So do not worry about tomorrow, for tomorrow will bring worries of its own.” Matthew 6:34

December 2012,

Dear Friends,

It is hard to imagine another year has passed, and here we are again – eagerly anticipating Christmas and the birth of the baby Jesus.  This year the Christmas season is peppered with even more emotion, as we watch our friends and neighbors rebuild from the effects of “Super storm Sandy.”  Those of us whose homes were unaffected live in a state of uneasy gratitude, as we do what we can to “Pay it Forward,” to those who have lost so much.

Life in the Ortega house continues to be one of adventure.  We are blessed.  Meghan excels in school, and loves to swim and dance.  Medication allows her to move her body without pain.  We are grateful each day for each other, as it is that bond that allows us to weather the storms of life.  And there have been some this year!  Some time in early spring, Felix joked that I should start on my Christmas letter.  He wasn’t kidding.

We began the year, Meghan and I, addressing all the preliminary appointments connected to our new diagnosis of “Cowden’s Syndrome.”

We needed to be set up with oncologists, endocrinologists, the geneticist, and for me, a beast surgeon, an endocrine surgeon, and a GYN oncologist.  We can’t use the same doctors, because she needs pediatrics, and in most cases we can not even use the same facilities because our insurance carriers differ.  We have been scanned repeatedly – each MRI separate.  Sonograms of every body part you can imagine.  All of this to learn that this testing will take place in 6 month cycles pretty much indefinitely.

There is so much overlap as to how everything came together this year that it is even hard to summarize.  I feel like sparsely a week went by without an appointment – many of them in NYC.  I laugh now at the days I swore I would NEVER drive in the city.  I don’t use the word “NEVER” much anymore.

In February, Meghan endured her 4th surgery for the arteriovenous malformation (AVM) in her knee.  The recovery this time included crutches, and the realization that there was blood leaking behind her kneecap.  We were sent to Boston Children’s Hospital where she had a consultation in April with “the doctor who will do the next surgery.”  Again, not if, but when.  So we wait.  She will be scanned again in February to determine the status of the very stubborn AVM.  Cowden’s Syndrome complicates any vascular anomalies.

In March I underwent a “prophylactic” bilateral mastectomy.  After consultation with several doctors, it was determined that the 85% risk of breast cancer that Cowden’s carries with it, coupled with my personal and family history, made the surgery a necessary next step.  Both the surgeon and the plastic surgeon were on site as I opted for immediate reconstruction.  The surgery turned out not to be so prophylactic, as my pathology showed I already had cancer in the left breast.  The best thing that came out of the surgery was having my mom hanging out in my house for a week – just chatting and giving me a much needed hand. Thankful to God, and for my surgeon, and my husband, for pushing me to get it done – we caught it in plenty of time, and no treatment was needed.

Continuing with all the initial appointments and scans, a suspicious polyp was found in my uterus a few weeks later.  A trip to the GYN oncologist led to a conversation that left me with little other option than a complete hysterectomy.  So, about 10 weeks after my breast surgery, I headed back to NYU for a complete hysterectomy.

A month later we took Meghan for her thyroid scan to Sloan Kettering.  We were told that one of her many thyroid nodules was close to a centimeter and starting to dominate the area.  So, our initial “return in a year,” changed to – “we will rescan her in 6 months.” December 27th we go.

Subsequent scans of my interior, (I keep telling them to leave well enough alone – but they believe in taking the used car to the mechanic,) have revealed 4 hamartomas on my spleen, and a small cyst on my kidney.  Those are benign, and common in Cowden’s Syndrome, but need to be watched because the potential for other complications exists.  I will also be rescanned the last week in December – but after losing so many organs this year, I warned them that I am rather attached to my spleen!

In the midst of our medical “stuff,” life continued around us.  In June our hearts were broken by the loss of Ken’s dad, or GGPa, as he was known to Meghan.  A man of such compassion, and love – a gentleman, and a GENTLE man – will be truly missed.  Our hearts will never be quite the same.

Meghan and GGpa

Just to keep things interesting, as “Super storm Sandy” raged around us in October, Grandma Edith, Mom’s mom took a fall down the basement steps.  No one is quite sure exactly what happened, but it is evident that the angels held her that day.  She suffered a serious head wound, and severe bruising, but broke nothing!  She spent days in ICU, and returned home the end of that week.  With the help of a high quality staff of physical and occupational therapists, as well as the never-ending love and care she receives from Pop and my Mom, she is getting physically stronger every day.  I admire my grandparents.  As they approach their 67th wedding anniversary, they stand together as examples of marriage as God intended it.  They are role models to us all.

Love my Grandparents!

Their marriage reminds me that God gave me a great gift when he sent me Felix.  I can say that we share such love through God’s grace – that I can not imagine my life without him.  He is my soul mate – and my sanity!

I guess I leave you with – to be continued.  No words of wisdom this year.  We are trying our best to take it one day at a time.  The tree is up.  We have our hearts and our heads focused on what matters.  We certainly have had plenty of lessons!

We would love to hear all the things that are new in your home!

Warm Christmas Blessings,

Lori, Felix, Meghan, Allie & Lucky Ortega

“Sometimes your blessings come through raindrops, sometimes your healing comes through tears….Sometimes trials of this life; the rain the snow the darkest nights, are your mercies in disguise.” –Laura Story

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

See, and just when I thought it was safe…

The cards were in the mail Sunday night.  I was getting it together.

Monday I was leaving work, ready to make one stop at a friend’d house before getting Meghan.

I stopped at the stop sign.  I looked to my left down the one way street I have traveled so many times before.

I was clear… and I drove.

3/4 of the way through the intersection…

I really did love my Hyundai

I didn’t see the SUV until it was in my rear driver side door.  I spun like an unwanted ride on the teacups and ended up on the grass and curb facing the wrong way.

His car ended up a block away.  There had been no braking.  No horn.  The impact shut his car down.

As I managed my way out of the passenger seat I was clearly stunned – full of so many thoughts.

The trip in the ambulance with an “angel” from Meghan’s school who happened to live in the neighborhood was surreal.

I have laughed and cried a lot over the last 24 hours.  I am grateful that I am walking and moving.  I am tolerating the muscle spasms and bruising.

As I spoke to the claims adjuster today and they explained that the claim would be backlogged due to the hurricane… I understood.  What I didn’t understand is how the guy speeding through the school zone is right, and I am wrong… but I may never understand that.

The thought that gave me peace tonight… in a year that has been so tumultuous, was that maybe – since it was dismissal time so close to my school… maybe I had to take the hit so someone’s kid didn’t have to.  Maybe… just maybe.

So I think of my little love.. and I am so happy she is safe.  And maybe that thought is where I will draw my peace.

“Sometimes your blessings come through raindrops…”

Now, if you’ll excuse me – I need to head out for a sonogram of my spleen… seems they need to make sure those hamartomas weren’t impacted by the crash….

Anyone else looking forward to 2013?

I Am Blessed

This cartoon is on the front of Meghan’s 4 inch medical binder. We have sometimes decided whether or not to keep a doctor by their reaction to this TRUTH!

It is late.  I should be asleep.  Morning comes fast and it is already after midnight.  I just can’t seem to find a way to unwind. 

I just had a long chat with a ‘new” friend.  That helped a lot.  But still here I am, trying to get these racing thoughts out of my head before I rest.  

I saw a new oncologist today.  The geneticist insisted I have one to follow me and one for Meghan.  Except I was having a hard time finding one who didn’t think Cowden’s Syndrome was contagious.  (Ok, perhaps I exaggerate, but they weren’t anxious to see me.) 

So the geneticist sent out an Email on Tuesday to some of his friends.  By Friday he had a name for me, (which means the genetecist is a KEEPER!) of a doctor IN network, and I met her today. 

She is lovely.  Of course, by already having the double mastectomy and the hysterectomy, I have made her job much easier.  Now she gets to push me to the fun stuff.  Next up- colonoscopy, and kidney MRI.  So tomorrow I will call to get the GI appointment, while they work out the authorization for the MRI. 

And all the while I will mourn a bit for the summer that wasn’t meant to be.  This was more, a necessary doctor “catch up period.”  I think by the end of August we will have at least 25 appointments done between us.  And those are just the ones scheduled right now. 

So, just when I start to get whiny and cranky about wanting some alone time to shop, or some fun time to swim, I remember.  Were it not for the work of the angel on my shoulder, that pushed my “prohylactic blilateral mastectomy” in March, I would have likely been spending this summer prepping for cancer treatment. 

So, we still get our trip to Disney, and there is always NEXT summer… 

I spent the last hour preparing for Meghan’s oncologist visit on Friday.  We haven’t seen this doctor for months.  There have been a few things going on.  So, I faxed her 32 pages of what we have been up to.  She wanted to review it before the appointment. 

I posted the cartoon because I had her binder out while I was preparing the fax.  I laugh every time I read it because even after all these years it is still true.  Even with our diagnosis of the PTEN mutation, and Cowden’s Syndrome, even with the precancerous thyroid nodules in Meghan, and her early puberty, she still has pain.  Every day.  And not one of these doctors that we take her to can tell us why. 

I thank GOD every day for her stamina, and her spirit and her spunk.  She is my love, my reality check, my perspective, my reason for being.  I feel displaced right now, from my church, my comfort zone – but not from God.  Even in the midst of all the chaos and uncertainty, I have a husband and a daughter that are beyond compare.  God has us in the palm of His hand.  We are blessed.  And it WILL be OK!