Helping  To Raise Awareness

MarbleRoad, a non-profit based in DC  wanted to make a creative impact to raising awareness to families in need.

Their mission: ….” to connect people who have complex illnesses with the resources they need to help them improve their lives.”  And with the help of RAREProject and others, MarbleRoad accomplished their task with their StoryBook initiative.

We all know children love to read.  In the old days, we used to call avid readers book worms.  The little ones who are unable to read, love to be read to by their grandparents, parents, siblings or anyone who will put them on their lap and share a story or two.   When a child is sick, reading a story not only helps to make the time pass by, but it can take their mind off their illness.  Fortunately, there is an abundance of stories to read.

But, what about books that speak to having disparities amongst the population at large?  What about books that talk about disabilities, hospital stays, and long-term physical ailments?  That’s what MarbleRoad realized;

“there weren’t enough children’s storybooks that focused on characters with illness or disability in a meaningful way, and with person-first language.”   

So during the time Genzyme, a leading biotechnology company founded in 1981, announced their Patient Advocacy Leadership (PAL) Awards, it seemed to MarbleRoad the perfect opportunity to pull The Rare Children’s Storybook Project together.  As such, an amazing team comprised of foundation executives, doctors, literacy experts and patient advocates came forward and signed up to be a part of the Advisory Committee to review the storybooks for the project.

Howard Liebers, Founder and CEO states, “The first year with a new program can always be a little scary — you never know how much interest and engagement you might get from the community you are trying to serve. The Rare Children’s Storybook Project has been a huge success though; a dozen families wrote storybooks, ten of those families created videos that have collected more than 17,000 views on YouTube, and several families have received financial assistance for health care related costs. MarbleRoad would like to continue the Project, and hopefully bring a few of the storybooks to publication.”

RAREproject’s Founder and CEO, Nicole Boice had the opportunity to participate as a judge for this initiative and stated, “It was amazing to see the variety of books that came in but also the enthusiasm and incredible quality that went in to each book.  The judging aspect was difficult due to the outstanding submissions – but I was super grateful to be involved in the process and bring these great stories to life.”

MarbleRoad’s idea resulted in twelve amazing storybooks, and ten YouTube videos (which collectively have received more than 17,000 views on YouTube).  On March 13, MarbleRoad cut checks for thousands of dollars in financial assistance, sending them to families who demonstrated need related to associated health care costs.  Some of the expressed needs included; support for everything from transplant costs, to accessibility modifications in the home, to other treatment costs.

AND THE WINNER IS….

BEST STORY

When the Lights Go Out - The Pletcher Family

***Their video “RDH12 Fund for Sight and Finley’s Fighters” has nearly 1,400 views on YouTube!

RUNNERS UP

Angel Baby Forever – The Benson Family

Sam & The Lost Wooby – The Greathouse Family

Still interested in the EveryLife Art Contest?

Today is the final day for submissions!

Submit your art by 5 pm PT

We accept art in the following forms:

• Painting
• Photography
• Mixed Media
• Collages
• Pottery
• Sculptures

PRIZES:  Two Grand Prizes will be awarded in each age group:

In the room were many Global Genes partner organizations, for others, this exciting initiative was something new.  The notion of bringing rare disease together under one unifying campaign was a subject supported by almost all participants in the meeting.    This is an exciting campaign, with tremendous potential to help raise awareness about rare disease, help educate the masses about genetics and rare disease, and what seemed most compelling to those in the room, was the opportunities surrounding the launch of the Global Genes Fund.

The ability to help bring new money into rare disease to support important ‘in their lifetime research’ for those affected was very appealing to those in the room.  Many pledged to get their organizations more engaged if they weren’t already.   All in all, daily this campaign brings new people and organizations together, it is a grassroots initiative that is truly collaborative, which is exciting to those involved!

We are continuing to reach out to patient organizations and rare disease advocates and are encouraging people to head to the  Global Genes Project and sign up to receive monthly updates and to be included in quarterly conference calls.  The goal will be to share how organizations are using Global Genes to help their organization garner awareness, educate or fundraise, and also present new cool programs and discuss World Rare Disease 2011 efforts.   www.globalgenesproject.org.  This is open to all individuals and organizations that Care About Rare!

For more information, please contact Nicole at 949.248.7273 or nicoleb@rareproject.org

This will be the first major hospitalization since I started chronicling his medical journey for the internets.  To me it’s a biggie, a jaw distraction.

My dilemma:

Do I blog our ENTIRE experience?

Do I upload potentially graphic pictures?

Do I owe my son his privacy or do I owe my readers a REAL glimpse into our lives?

I still haven’t decided.

As a mom, I struggle with questions How much information is too much information? and  Am I violating my son’s privacy?

But as a writer, I am constantly reminded that I don’t do it for myself, I write to help other families. When I think about how much sharing our story, be it through words or pictures, can help other parents and children I feel I am doing the right thing, for us.

Obviously it may not be the right thing for other families. But there is a strong urge to continue living our lives as transparently as possible. Only then will others truly realize what we go through — the good and the bad.

When all is said and done, I just need to find the fine line between his personal privacy and the call I hear to advocate for him and with him. Can I have one without the other? I think so. Surely I can find a way to advocate without plastering his surgical recovery pictures all over the internets.

How do you maintain your privacy when places like Facebook and Twitter are made to keep interested parties updated on your every move?

Photo: Aaron Kohr

This public hearing is intended to gain from health care providers, academia, industry, patients, and other interested persons their perspectives on various aspects of the development of medical products for the diagnosis, treatment, or management of rare diseases. The input from this public hearing will help inform the work of FDA’s committee for rare diseases

Jonathan Jacoby, CEO R.A.R.E Project will present case studies on therapeutic candidate generation, focusing on;

• Challenges of patient-driven R&D
• Challenges and successes with biomarker identification
• Experience with Orphan Drug Designations
• Individual investigator INDs and IND exemptions
• NIH clinical trials
• Barriers to recruitment and participation in CTs

Following the presentation, Jacoby will provide recommendations that include the importance of very small CTs as a pathway to regulatory approval. Jacoby will present this testimony from 11:40 – 12:00, June 29, 2010.

The meeting will be webcasted and any interested persons are encouraged to join:

• Dates: June 29-30, 2010
• Time: 9:00 AM to 5:00 PM ET
• Webcast addresses (will be active at the time of webcast):
  June 29 – collaboration.fda.gov
  June 30 – collaboration.fda.gov

Me & My Monster (2007)

Like all the other parents, I was excited, nervous and a bit scattered from the days of preparation and packing – reminding my son over and over what to do in a dozen different situations.  He’s 12 now; and definitely has the eye-rolling, shoulder shrugging thing down pat.  He finds his own ways to show his love – but clearly . . . open affection at the parking lot that night was not one of them.

I did sneak half a hug before he climbed the stairs to board his bus, and handed off his suitcase to the men loading the compartments below the seats.  Then clutching my Little Red Binder, I turned to the chaperone who was checking students off as they boarded. She smiled as she recognized me from our meeting earlier in the week when we’d gone over his medical condition.

First I handed her the Ziploc bag with his daily medication in it – explained when it would be time for the next dose, and then – referring to the binder – told her “everything else is in here”.  The Little Red Binder I still hadn’t let go of contained 13 years worth of documentation on my son’s rare genetic condition – Vascular Ehlers-Danlos Syndrome.

Inside that binder was every letter I’ve ever received from a doctor or lab – including the one with his original diagnosis.  There are copies of emails from doctors at Johns Hopkins and the NIH; and CD’s which hold images of his entire vascular system as well as the intricate soft tissue of his recently repaired right knee.

Watching from the crowd of parents as he darted back and forth on that bus – trying to save seats for his friends– it was very easy to forget that the Little Red Binder was even necessary.  Day to day he goes through life at warp-speed; only slowing down long enough to grab a snack, get involved in one of his gadgets, or torture his sister a little.

To see him with his friends, you’d never in a million years guess what lurks within the tiniest fibers of his tissues – or, rather, what doesn’t lurk.  Collagen.  It’s the “glue” that tissue relies on to stay in tact.  The disease he inherited from his father robs his body of this critical element needed to hold itself together.  But no matter how “normal” he looks, the same activities that may be just part of “normal boyhood” can lead to  tragedy for him.

I try not to dwell on it, and most days the reality of it is so far in the back of my mind I have to remind myself  some things are too risky for him.  But – risks aside – I wanted him to go on this trip – I wanted him to have this experience.  And for months we’ve been focused on is how much fun it would be.

However, that Monday night, standing in the warm, muggy air, reality was impossible to ignore as I looked at the chaperone waiting to take the binder from me.  I was surprised by how much I didn’t want to let go of it.  And when I finally did the old, familiar Cold ran through me; taking up residence somewhere between my heart and my stomach.

Denial is a funny thing  I suppose.  Looking back on it now, as long as I was the one holding the binder, I was still in control.  But letting go of it . . . putting that control in someone else’s hands . . . meant it was real.  No matter what he looks like on the outside – this is all real.   The whole experience drove home another reality for me:  I don’t have much time left as “the one” who makes the decisions.

He saw me lingering in the parking lot and gave me one of those “Geez mom, you’re embarrassing me” looks and as I turned to leave, it was clear to me that he really is going to grow up and I really won’t be able to monitor and watch over him like I do now.

A very dear friend of mine who passed away earlier this year from the same disease offered me his advice several years ago on what he felt was the best way to approach raising my son with this unpredictable disease.  Being an active guy himself who’d just come through some major health crises, he told me the hardest thing I’ve ever had to hear on this subject:

“Debbie, you’re going to have to learn that this is HIS disease – not yours. It’s his body and he will have to learn his own limits.  All you can do is offer him guidelines, but in the end – it’s up to him to limit himself.”

I still bristle at the advice – not as much as I used to though.  But, like everything else Glenn ever told me on this subject, it’s turning out to be completely right.

I’m trying, Glenn – I really am trying.

To read more about my story or Vascular Ehlers-Danlos Syndrome, you can visit my blog called “Coming Unglued” at: www.ddvaughan.wordpress.com

It’s strange what being the parent of a child with a rare, life-threatening or debilitating genetic disorder can do to a person.  There’s even a movie about it – “Extraordinary Measures”, with Harrison Ford and that other guy from the “George of the Jungle” movie my kids still like to watch.  It’s about a dad who quits his job to partner with a scientist and push the science to develop a life-saving treatment for the disease.  Oh yeah – it’s based on a true story. 

Its’ also the kind of story that people like me look at and think “Wow! That’s just like what we go through with EDS.”  Haven’t actually seen it yet, but that is actually what I think.  That is actually what I hope for someday. 

Long before the movie was made, families like this have been doing extraordinary things in their quests to find treatments and cures for their children; whether to save their lives or at least improve the quality of what life they have left.  And long after the movie is forgotten, the newly inducted members of this ever-growing group of parents will continue to lie awake at night wondering which medical journal, which doctor, which article has the missing key to their child’s disease.  They will feel driven to do it; they will feel compelled to do it, and they will feel heart breaking guilt when they do not succeed. 

One thing you find yourself doing, especially now that the internet has exploded with untold treasures of medical research just waiting to be mined, is sifting through long, wordy and usually incomprehensible research articles that may contain even the tiniest connection to your child’s disease.  Every once in a while, if you’re very lucky, you may even see a story of someone with the disease on T.V., or a doctor testing a new treatment which holds promising possibilities. 

That’s when your mind starts to whirl, flying through every scrap of information you’ve ever memorized, looking for the elusive missing pieces.  That’s when you get a little more desperate than usual (you’re always desperate), which is what happened to me a few weeks ago. 

Last December, I saw a story on 60 Minutes about breakthroughs in a field called “Regenerative Medicine” in which doctors use different methods to trick the body into growing or repairing missing or damaged tissue.  My heart pounded in my throat as I watched – was I really hearing and seeing what I thought I was?  Could this be true?  I imagined all sorts of implications for my child and the millions like him around the world.  I knew my very basic knowledge of cell formation was too limited to know if this could be for us or not.  So I did what any other parent of a child with a rare genetic disease would do: I hopped on the internet. 

For about three days I scoured websites, located all major research institutions in the U.S. exploring this field, AND – talk about hitting the jackpot – I found the emails of several of the doctors featured in the story!!  (It’s not that hard, really).  So, again, I did what any self-respecting-parent-of-a-child-with-a-rare-genetic-disease would do – I sent out about ten emails to prominent doctors at prestigious institutions – I was making cold-calls (or whatever it’s called for emails). 

I came to my senses a couple of weeks later when I had received no replies and remembered that there are M-I-L-L-I-O-N-S of families going though the same thing as me, and surely no less than two-thirds had probably done equally as desperate things.  More than likely, the servers at those hospitals had crashed from the influx of emails from parents like me.  Oh well, at least I’d taken a shot at it, right? 

But then . . . out of nowhere – I got an email response from a vascular surgeon who works with the Institute for Regenerative Medicine in Pittsburgh.  HOLY COW!  I skimmed it faster than my mind could read – looking for key words, like “possibility” and “hope” or “promising potential“, but found none. 

The email essentially said that as of right now there are no applications for the treatment in Ehlers Danlos patients, and they simply didn’t know about the future.  And then he told me how to take care of a child with vascular Ehlers-Danlos syndrome; at least he was covering his bases.  So – I moved on and pretty much forgot all about the other emails. 

But today, when I opened my inbox, there was an email I thought was from another EDS patient I’d been told was going to contact me.  I opened it quickly, started skimming, and soon realized that – OH! MY! GOD! It was a reply to the email I’d sent to THE doctor on whom the majority of the 60 Minutes story was focused. 

Heart racing, adrenaline pumping, I backed up and started re-reading; actually reading this time.  O.k. - it was from his associate – he was helping respond to emails – they were very backed up after the show – just like I thought – blah, blah, blah – and then, the meat of it.  Which I’ve copied for you here:

“Re your specific inquiry…

1.      None of Dr. Badylak’s research has specifically addressed your area of interest

2.      While ECM shows substantial promise to repair damaged tissue, I do not envision that it would be effective in reversing the root cause of your son’s affliction 

3.       ECM and tissue engineering in general, offer promise to treat tissue defects, but the use of such procedures would require surgical interventions.”

 The rest was “thank you for your interest”….. “blah, blah, blah”…..“etcetera, etcetera”…balloon popping….bubble bursting…..eyes getting teary….heart breaking all over again. 

Where the hell is my coffee?

I gotta’ go to work now.

Damn.

In February of 2008, I just happened to catch an interview on TV.  It was Charlie Rose interviewing Sir Richard Branson.  The focus of the interview was not so much his successes but what he plans to do from here on.  Branson introduced me to the concept of “social entrepreneurship” which is very intriguing to me.   I asked myself, “what entrepreneurial skills do I have that I can use to help others?”  One answer was website design and development.  I had recently heard about some fantastic kids doing wonderful things in their communities.  Also at that time my daughter MaryMargaret had asked me to build her a website…

“Kids are Heroes” was spawned by these three inspirations.  This is a website dedicated to teaching kids about giving at an early age.  We do this by showcasing amazing children up to the age of 18 who have done their part to change the world.  The concept is that parents lead their children to the site and the kids form their own ideas on how they can get involved.  Once they see what other kids are doing and how easy it is, they also become inspired to help.  Case in point: one of our neighbors (his name is John and he is 8 years old) who saw the site told his mom that he wanted to do something too.  He is a real animal lover but he inherently knew that lots of people are already helping animals.  There aren’t many kids helping families with premature babies (John was premature himself).  So that is his cause – he started an aluminum can drive to buy gift bags for families at hospitals who have “preemies”.  He solicited Boyd’s Bears for clothing and stuffed animals and asked people to knit little hats.   He enlisted women in nursing homes to knit him quilts. After personally delivering 36 gift baskets to the Shady Grove Hospital, this 8-year-old boy turned to his mom and said, “Mom, that was the most important thing I’ve ever done.”  This is exactly what the website is designed to do.  This boy’s life has changed as has the lives of his family.

MaryMargaret (who is now 11 years old) and I are cofounders of the site.  She is involved in the content, design – she even drew the logo herself.  This will be a great teaching tool for her – it will ultimately be her legacy. She has also been featured on the site three times and soon a fourth for her Music for Life project.

One of the greatest things about the site is the diversity of ways kids are helping and the variety of their causes.  From holding read-a-thons to lemonade stands to giving up birthday gifts to having their hair removed are just some of the ways kids are helping.  Aiding kids with cancer, senior citizens, blind horses, preemie babies, rescue organizations, orphans in India and Afghanistan, homeless people – all walks of life are being assisted.  Meeting these children has indeed been a humbling experience for me.  We have one boy Ryan who drilled his first well in Uganda when he was 7.  Ryan is 18 now and his foundation has drilled over 500 wells in 16 countries helping over 600,000 people.  Another boy, Dylan, has over 20,000 young volunteers helping him end poverty by the year 2015 – an idea draw up by the United Nations called the “Millenium Development Goals.”  He is a 14-year-old boy who speaks to large audiences all over the world.  Then we have 5-year-old Mia who heard about the web site from her mom and said, “Mom, we can help Mr. Doug!”  “Mr. Doug” is a neighbor down the street who is handicapped and can no longer keep up his yard.  Each week they plant flowers, rake leaves, or find another way to help.  We paint all these stories with the same brush because whatever a child does along these lines is a great learning experience. We were also excited to discover that this activity builds self-confidence and sharpens leadership skills.

Since our inception we have grown to feature over 100 heroes from all over the United States and Canada.  We have been featured on Sir Richard Branson’s web site and through his “PitchTV” concept have had our video shown on Virgin Atlantic planes in the month of June 2009.  Our local mall holds a yearly Kids Are Heroes Day.  We just recently partnered with ex-NFL star Levar Fisher who is currently touring the country speaking about us to kids of all ages.  Our involvement in social media has indeed opened a lot of new doors for us. It is our vision to make Kids Are Heroes a globally recognized organization in ten years.

One of the reasons we are successful is because we do not tell kids what they have to do. By reading the different stories on our site they find their own passion. Since they are now doing something they believe in they stick with it.

To get involved we recommend parents to sit down with their children and read the stories. Check out the “Become a Hero” section for other ideas.  Once the hero has settled on a plan, execute it.  As soon as the project is completed a parent can nominate a child on our site directly.  This is not about the recognition. Most of the kids on our site could care less about the accolades. It is about raising awareness for the cause and getting other kids to join in.

Gabe O’Neill

Recruiting Kids Are Heroes Ambassadors right now!

Kids are Heroes, link HERE.

I had dared to take my 3 boys to the grocery store once again….that’s the definition of insanity!  Remember the old story of walking down the same street and falling in the same hole over and over again as being the definition of insanity?  Walking in a grocery store over and over again with my 3 boys is insanity!  So against my better judgment, yet with a need for food; I decided to take all 3 boys in.  I gave the boys stern warnings about not running off, not hanging off the cart, and not touching things.  I dared to presume we would have a successful visit because I buckled David (aka/Evel Knievel) into the cart.  I knew I was safe as long as he was in maximum security “lock down”.  Off we proceeded into the wild green grocery yonder.  I stopped to talk to the Pharmacist for literally 30 seconds and turned back around to discover David was out of the cart and running down the aisle!!!  I burned holes in him with my laser red eyes as I yelled out his name!  I felt like the Terminator!  “Get back over here David!”  He marched back with head hung low, sad that his whole plan to rule the candy aisle had been foiled!!  Poor kid, but happy me because I averted a crisis!!  Thank Goodness!  We arrived back home safely and everyone was in one piece; I however, was once again wearing a sweaty, pitted-out shirt from the stress of the usual grocery store torture!  Ugh!!  I had each boy take a grocery bag inside the house, and as they marched with their bags like little soldiers, I noticed something unfamiliar through one of the bags.   I started to feel hot and prickly as I wondered if we inadvertently stole something.  I peered around my corner to see if the Grocery Security Police had followed me home.  We quickly got inside the house and I opened the bag.  I was stunned when I saw the unfamiliar stow away!  It wasn’t toys, it wasn’t candy….wait for it….it was STRESS B COMPLEX VITAMINS!!!!!!  This is a TRUE STORY!!!  STRESS B COMPLEX VITAMINS!!!!!  I quickly snatched my receipt out of my purse to see that yes, I had actually bought them too and didn’t even realize it!!!   I have always felt that the stress of the grocery store is like an out-of-body experience…now I have proof!!  In the few seconds that David slipped out of the cart, he had “5-fingered” the bottle of vitamins and slam dunked them in the basket with skill that would make Michael Jordan proud!  I can only imagine the look he must of given the checker (though I’m thinking now, she must of thought to herself when she saw the vitamins ,”so that’s how she manages these 3 crazy animals!”) a look of,”Pleeeassse don’t ask if these are ours…my MOM NEEDS THESE…RUN THEM THROUGH NO QUESTIONS ASKED!”  So out of all things my child could have slipped in the cart.… STRESS VITAMINS FOR MOMMY!  If you don’t think that’s some divine message from the Universe, you are not alive!

So my point is that I have tried to explain our situation to people over the years and they sometimes “glaze over” in confusion and disbelief, especially when I try to explain Derek’s rare syndrome!  So you just have to be patient and soon enough, you’ll get back to regular relationships and communication with other typical parents again.  After a while, you learn not to take things so seriously and sometimes you can actually muster up some humor about the whole situation.  But until you do, you might as well just talk to yourself and let the Universe answer back!  Me and the Universe have a pretty good relationship now!  I think we understand each other….I don’t ask the impossible anymore (ie: “Why me?”) and the Universe tries to entertain me!

By Kelly Seymour

Welcome to the first official “Blog for Rare.” We’re bringing people from across the world together this week in celebration of World Rare Disease Day 2010 (February 28).

This SNiPs post is a mix of web links to specific blog posts and to bloggers who have a connection to rare disease (a blog roll of sorts). The links are in no particular order (and if I’ve left anyone out, please let me know so I can add you to the mix). Please spread the word – on the web, Facebook, and Twitter (#blog4rare, #raredisease), etc.

See Bogey Grow

Forever Ella

Ring 14

Josslyn’s CB Page

Matteo FB Page

FEDER and link here.

Infertility Mom

Daily Mush

Love, Hope & Kindness

My Reason to Run

Autism Speaks

Christopher’s CB Page

Elizabeth’s Page

Face to Face

Guthy Jackson Foundation

Hopeful Parents

Fight ALD

Brave Hero

Lizzy’s Page

Fat Disorders

Hug Your Kids Today

Small Portion of Life’s Journey

Seeking Continual Change

Little Miss Hannah

Day in the Life of Luca

Madison’s Foundation

Matilda Matters

Odes of Survival

Being Bertrand

Running for Kelly

McMahon Trust

Dr. Val’s Blog (Better Health)

Dr. Rob’s Blog

Rare Disease Support

FEDER YouTube

NPC Australia

Special Needs Support

My Snugly

Marcy’s Chronicles

Downey’s Blog

Moments in the Undiagnosed World

Rare Disease Blogs (Eurordis & NORD)

Claire Bidwell Smith at Mamapedia

Julia & Maya Clark

Johan’s Blog

Sneak Peek

Always Home and Uncool

Bridget’s Post on Rare

NIH GARD

NIH Gene Reviews

Suite 101 on Jeans

Southern Belle’s CB Page

RSS/SGA Support

Charming BB

You’re invited (Facebook event, here):

By Silvia Jané:

On the 28th of February is the World Day of Rare Diseases. I propose to make a picture of the moon and hang it (there will be a full moon) in solidarity with all people with rare diseases that share the same moon that the other inhabitants of the earth. Don’t forget the name of the place from you have took the pic!

Up Next:

Happy Birthday Genome! (And here.)

Happy Birthday Blue Jeans!

Research Day

A huge thanks to all of our participants and to Lauren L. for the dog drawing (I love it).

If you have any thoughts good or bad about this blog campaign – or ideas for a next time, please post a comment here or email me at hellocatcal AT gmail DOT com. Or let any of the Children’s Rare Disease Network/Global Genes Project folks know.

Until next time,

Catherine Calhoun

Volunteer/Parent