Champions of HOPE

It’s no secret that we have been followers of “The Global Genes Project” since our diagnosis in 2011.  Meghan fell in love immediately with the denim ribbon, and their slogan, “HOPE it’s in our Genes!”  That play on words stuck with her, and the ribbon gave her a good deal of connection at a time when we weren’t sure if we’d ever connect with another soul with “Cowden’s Syndrome.”  The connection with the RARE Community at large carried us through those earliest days.

hope-its-in-our-genes-300x88

The end of 2011 and well, 2012, and… well, you get the idea… held some tumultuous times for our family.

Adjusting to the diagnosis was not easy.  Finding balance within the labels, and the risks, and the screenings, and the surgeries, and the appointments was (and sometimes still is) a struggle.  In the months when the diagnosis was at its newest, Meghan’s thyroid was called into question several times.  We discovered nodules we never knew were there and learned the early risks of thyroid cancer were real, and ever-present.

She soon underwent the most horrendous of what would be 4 thyroid biopsies over the next 2 years.  Scarred physically and emotionally, we began to wonder about this beast we were up against.

In February of 2012 Meghan had her 4th knee surgery for an AVM (arteriovenous malformation) in her right knee.  Now convinced it’s stubborness could be credited to Cowden’s Syndrome, the fight to control it’s growth took on a whole new meaning, and we were referred for consultation to Boston Children’s Hospital.

While we balanced the screenings for Meghan, I was sent to my own set of initial screenings.  Being 38 and newly diagnosed, I was in the battle full on, and I had had no idea.  All the imminent cancer risks associated with Cowden’s Syndrome – except for the thyroid which often comes earlier – seem to peak right around 40.  No stranger to doctors, I was trying to figure out how the diagnosis helped explain the roadmap that was my own medical history.

In March of 2012, I underwent what was to be a “prophylactic bilateral mastectomy,” to battle the 85% breast cancer risk I had with the PTEN mutation that caused Cowden’s Syndrome, and my own medical history which had already seen 7 increasingly suspicious breast biopsies.  Seven days later, while having my drains removed, my husband and daughter sat in the room as the doctor announce it was a “good thing we moved when we did.”  My left breast, the one that had never seen a scalpel, had 1 centimeter of DCIS, close to the nipple and clear of the chest wall.  I had breast cancer.  They found it by accident.  My aggressive, intelligent surgeon, who I met because of my diagnosis, and really BECAUSE of my daughter had saved my life.  I needed no treatment.

faith_hope_breast_cancer_puzzle

I left the room that day holding the two people I love more than anything.  Unaware of the plans clearly in place for us, I was so filled with gratitude, and so in awe of the reality that if I had never had Meghan, I would have likely never known.  And the surgeon’s words, “If we had waited till July like you had wanted, you would have been in a fight for your life,” still ring in my ears.  Sometimes you have to stop the “what ifs?” and just say “thank you.”

Ten weeks later I was back in the hospital for a complete hysterectomy.  A suspicious uterine polyp, enlarged ovaries, and Cowden’s Syndrome combined again for too great of a risk, and the recommendation was for surgery and quickly.

happy hysterecomy

The shock on my body, the trauma to my family at this point was intense.

I had begun to scour the internet looking for places to go.  I found http://www.PTENworld.com and its dynamic young moderator, a Cowden’s patient for many years.  I found Facebook, and a beautiful support network there.  I found a yahoo group, and a mom there who has consistently gone above and beyond for me, simply out of goodness. Finally, there were real people I could talk to.

One day that Spring I received a Pandora necklace with a pink ribbons on it.  After years of advocating for my mother, a bilateral breast cancer survivor, holding the pink ribbons that belonged to me felt strange.  Yet, so did the new boobs, smaller, but perkier than the old ones, and all the clothes I was learning no longer would fit quite right.  So, I took comfort in that necklace and I wore it a lot.

pink ribbon pandora

And one day my very obsevant girl, who was 8 at the time, a few months shy of 9, asked me “What stands for me?  The gold ribbon is for childhood cancer, the pink ribbon is for breast cancer, the puzzle piece is for autism.  What about me?  What about people like me who are dealing with this (Rare disease) every day?  I NEED something mom.  Not to have a thing, but for my identity.”

Stunned, as usual.  I realized I had begun to heal myself, to seek comfort for myself, but I was leaving her behind.

So I happened to be retelling the story at lunch.  And my teacher friend, whose husband is a jeweler, and who has a son with autism, really “got it” on so many levels.  She told me she’d talk to her husband and see what was around.  So I gave her a denim ribbon sticker from the Global Genes Project, and they were on a hunt.  Which turned up nothing.  There seemed to be no piece of jewelry worldwide to symbolize those with Rare Genetic Disorders.  And, with there being over 7,000 RARE dieseases, accounting for almost 10% of the population, to us this was silly.

So my friend’s husband offered to make one.  For Meghan.  Because if she wanted a piece for her “identity” she should have one.  So he did.  It took months.  And it was perfect.  Absolutely perfect.  And he was so generous in the donation of his time, all to light up my girl’s world.

 

August 2012
August 2012

 

Typical Meghan, no less that 5 minutes after she put it on, she started with, “Wouldn’t it be great Mom, if these were available all over the world, and then we could see them when we went places, and we would know the people who have, or love people with RARE diseases?’  And the conversation continued to include asking me to reach out to The Global Genes Project to try and make it a reality.

Well two years have gone by.  Felix and I each wear one too.  Only 3 ever made.  Until recently.

There have been lots of EMails exchanged.  Lots of conversations.  Lots of people.  Ultimately they did decide to have the necklace made, and while the decision thrilled me, I would be lying if I said that I wasn’t disappointed that they couldn’t use our friend, the jeweler.  But, business decisions are what they are, and this one was not in my control.  And, despite that disappointment, Meghan’s dream, her vision, is becoming reality.  We received 2 samples this week, and a “THANK YOU” from the team at Global Genes!  The necklaces will be on sale through http://www.globalgenes.org in the fall!

denim ribbon necklace 1

denim ribbon necklace 2

Two years have gone by.

I have developed deeper, closer “long distance” relationships with some “kindred spirits” in the Cowden’s Community – globally!

My girl has some of her own friends with Cowden’s now, spread across the world.  She will be 11 soon, and is quite the young lady.  She understands life on levels deeper than she should.  Most impressively she understands that despite our struggles, there are many in the world who struggle in heart, mind, body, and soul.  She knows that “Everyone has SOMETHING!”

This past year she organized an assembly at our school.  She worked with Student Council to arrange an evening fund raiser.  She partnered with a friend in her own class who has a RARE Disease.  We sold T-Shirts.  We received intense support from faculty, and parents and students.  Every child got a denim ribbon to wear for RARE Disease Day.  We sent thousands of dollars to The Global Genes Project.

She has already begun to plan for next year, and wants a much bigger fund raiser.  “At a place Mom.”  We can really get the word out and raise money.  For The Global Genes Project http://globalgenes.org/, and for the newly founded PTEN Hamartoma Tumor Syndrome Foundation http://www.ptenfoundation.org/, another organization close to our hearts.

She has a mind that never stops.  She has the heart and voice of an advocate.  And this year, she was nominated for the TEEN Advocacy Award at The Global Genes Project.  (If you scroll down, the teens are close to the bottom.)

http://globalgenes.org/2014-rare-champions-of-hope-nominees/

Meghan 2014 Nominee
Meghan 2014 Nominee

Champions of HOPE indeed.  So proud of her.  So proud to see her name with all the others who have decided to “Do Something.”

 

“HOPE it’s in our Genes!”

We are BEATINGCOWDENS!

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!