Adam Nelson with his Olympic and world championship medals -- and the denim ribbon, emblem of the RARE project // photo courtesy Nelson family

Adam Nelson Champions Hope

Written by: Alan Abrahamson

Through the eyes of two families affected by a rare disease, Alan Abrahamson, a seasoned writer for 3 Wire Sports, brings to us an amazing story of hope for Sanfilippo Syndrome and Niemann Pick Type C.  In his writings, Alan delivers a realistic view of living with rare disease but also the self-less act of Adam Nelson, an Olympic medalist in shot-putting, on Adam’s efforts to champion donations for the RARE community.

All proceeds go to the Global Genes Project, an initiative developed by the Southern California-based RARE Project.

Adam’s goal was to raise $25,000. With little to no publicity, he had as of this week raised $4,888.

You can read this awe-inspiring story HERE (Adam Nelson Champions Hope)

Alan Abrahamson,  is a writer for:

3 Wire Sports
Not just what’s happening in and around the Olympic movement and international sports but what it all means.

Hope - It's in our Genes.

Rare disease is not so rare especially when you see the community come together like this. As we celebrate the the 5th Annual World Rare Disease Day 2012, we honor each of you in the Rare Disease community and all the sweet ‘Angels of Hope’ who have been lost to rare diseases.  Our efforts to spread your hope won’t stop today so please keep posting your Hope photos and stories on Facebook.  Share with your groups, foundations and friends.

Stay tuned for more as we continue forward in 2012. It’s Rare Disease “Every” Day for us!

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Hope. It’s in our Genes.™

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Do you have Hope in your Genes?

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We are so thrilled with the number of patient stories we have received for Rare Disease Day and have decided to implement this important key awareness initiative by promoting stories throughout the year.

Your individual patient stories have made quite an impact to the community at large.  The response has been overwhelmingly positive; from heartfelt comments on individual Facebook posts, to personal e-mails delivered to the R.A.R.E Project team, our goal to help educate and provide awareness to the rare community is making headway.

So that we can highlight and effectively support each individual disease – we will be focusing our headlines to reflect the individual patient disease that has been submitted as part of their story.  We feel honored that our rare community is willing to share their experiences, thoughts, and overall life with rare disease and we look forward to receiving your stories as we move forward!!

To access the form for submitting your story, you can visit our Facebook Page HERE.

Please be sure to include your picture of hope, and if you include your address – we will send you a Care About Rare™ car sticker!

Or, if you prefer, you may also email your story/photo to info@rareproject.org.

 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

Advocating for your children can and does make a difference!

On March 6, USA Today published an article spotlighting a brave family with twin girls suffering a rare and fatal genetic disease.  Niemann-Pick Type C disease, often called childhood Alzheimer’s disease, has brought the Hempel family through rigorous challenges and constant battles in an effort to keep their children alive.

Yet, an approval from the FDA brings encouragement and hope to the Niemann-Pick Type C  and rare disease communities.  Follow this link to read more:

USA Today – Addison and Cassidy

DANA POINT, Calif. – The 5th Annual World Rare Disease Day took place February 29, 2012 with a fanfare of activities worldwide! Sponsoring organizations like NORD and Eurordis engaged in more activities and awareness efforts, garnering increased attention and engagement than previous years.

Once again, Global Genes Project™ helped support and create numerous opportunities to raise awareness for this important day through its grassroots campaigns and programs.

1 MILLION FOR RARE™ CAMPAIGN!

Schools, Local Businesses, Disease Groups, Global Corporations were some of the hundreds of organizations participating in the 1 Million for Rare™ campaign supporting World Rare Disease Day 2012. “The goal of this campaign is to bring awareness of the 350 million affected by rare disease.  It’s a simple way for people to come together on one day to share their voice for this community that is often left unnoticed.”, said Nicole Boice, co-founder Global Genes Project. “Rare Diseases are complex, the science behind the research is complex, the symptoms and medications are hardly pronounceable, making it difficult for the world to support this community in need”.

The Global Genes Project™ plans on continuing to make it easy to get engaged, show support, and build new champions for the millions of children and their families affected by rare disease. Global Genes Project™ will accomplish this through continued programs and educational efforts. “It is hard to generate support for something people don’t understand, we need to help them understand, in their terms, creating simple ways for people and organizations to support this community of millions”, Boice stated.

The Hope Campaign

When one of our parent advocates re-posted a picture that she found with the slogan “Hope. It’s in My Genes!” the Global Genes team never imagined it would have the effect that it did.  More than 700 photos were posted to Facebook in less than a week!  A collage of the pictures was created and the fervent effort to spread rare disease awareness continues through the Hope Campaign.

In addition to photos, our Patient Stories of Hope and Inspiration were featured every day throughout the month of February.  Publication of submitted patient stories on our Global Genes Project Blog have been key to joining people together and furthering awareness.  With such a great response, over 200 stories are in the queue to be showcased every day throughout the year – with more coming in every day.

BLUE DENIM AWARENESS RIBBON’ MAKING AND DISTRIBUTION

Kids Helping Kids with Blue Denim Awareness

Over 40,000 blue denim awareness ribbons were made by volunteers and distributed around the globe in support of World Rare Disease Day – over double the amount for last year.

In addition to making this outreach possible through financial support, these organizations also recognized World Rare Disease Day by hosting events within their respective organizations, incorporating the blue denim theme;

Amylin

Alexion Pharmaceuticals

Sturge Weber

ViroPharma

Thornia Secondary School Rare Disease Club

Support Groups Like – 22q and Marfan Foundation

Sanford Children’s Health Center

GlaxoSmithKline

GlueDots™, make it possible for volunteers of all ages to help make ribbons

Ribbon making activities will continue year round and are being offered to all rare disease advocates and groups for events, activities, etc.

THANK YOU:

A Special Thanks to the current Global Genes Project Team:

• Chris Hempel – Addi and Cassie Fund
• Elizabeth Joshi – Joubert Syndrome Foundation
• Julia Jenkins – Kakkis Everylife Foundation, Rare Disease Legislative Advocates
• Two Hearts Rock – Kerry Hughes and Lori Butler
• Mimi Fehmers – Social Media Expert
• Priya Gupta – Intern at UCLA – Social Media
• Dean Suhr – RARE Project & MLD Foundation
• Jason Omenn – RARE Project
• Amy Grover – RARE Project
• Christie Draper – RARE Project
• Lisa James – RARE Project
• Jen Engleman – RARE Project
• Heather Earley – RARE Project & Russell-Silver Syndrome

Hayden has ASLD a Rare Metobolic Disorder

February 29 was not just another day for the family of a boy named Hayden with ASLD or Adenylosuccinate Lyase Deficiency.  HOPE traveled across the miles of the Mississippi Delta to as far north as Kentucky down south through Tennessee, Arkansas, Missouri and Louisiana.  It was an incredible show of support for Hayden and all those struggling with rare disease – that the act of a loving gesture by wearing a pair of jeans, sending a photo and message of care gives SO much courage, hope and awareness to the rare disease community.

Hayden’s mom states, “I was truly overwhelmed by the amount of pictures that were placed on my Facebook wall in honor of Hayden. Schools were wearing jeans. Teachers were wearing jeans. Business offices were wearing jeans. Babies that were Hayden’s age were wearing jeans.  Many people went over and beyond. Not only did they get to wear jeans, they were also told why they were wearing them. They were raising awareness for all of the rare diseases that are going unnoticed.”

Read Our ASLD Angel – and Heydon’s family journey on February 29, 2012 and discover for yourself, how World Rare Disease can make an impact for all those searching for HOPE.

RARE PROJECT AND THE GLOBAL GENES PROJECT

PROVIDING SUPPORT AND AWARENESS FOR RARE DISEASES

Over the past two years, the Global Genes Project efforts have been highly visible at the NIH for the annual World Rare Disease Day events.  In 2012, we presented Dr. Francis Collins and Dr. Steve Groft with a Rare Pictures of Hope™ photo book made by thousands of rare disease advocates.

In 2011, Nicole Boice, co-founder of R.A.R.E and Global Genes Project had the opportunity to present Dr. John Gallin (pictured right), the head of the NIH Clinical Center, with a denim Genes Ribbon™ and a ‘Treatable’ t-shirt.

On the heels of a very compelling talk by Dr. Francis Collins (pictured bottom right), Director of NIH, Nicole Boice and Audrey Gordon, executive director of the Progeria Research Foundation, presented Dr. Collins with a 3ft denim ribbon, the symbol of hope for the rare disease community.

Drs. Collins and Groft both wore  jeans to the NIH Rare Disease Day events and encouraged all attendees in 2013 to wear jeans in support of the campaign and the rare disease community as a whole!

Riley Cox

‘MEET RILEY!’

I have seen many things in the past four years since Riley’s diagnosis. Most of them have been while walking the road we are on. I have watched my daughter fight to overcome so much, beating the odds, SURVIVING, fighting back from setbacks and complications. She is my inspiration! Being on this journey has been a true test of faith. It’s not always easy to trust when you are afraid. You want so badly to have control of the situation and force the outcome you want.

I can still remember every detail of that day. I will be forever haunted by the image of Riley laying in a hospital bed with tubes and machines all around her. I remember the look on the doctors face when he had to tell us that he didn’t think that she would make it through the night and the shock on his face when she did. To this day, I still can’t look him in the eye. I remember the kind words from a chaplin who was sent in our room to ‘prepare’ us for our daughters death. I remember the fear and confusion. I remember being told that if a blood transfusion didn’t begin to work on Riley that there was no hope for survival. I remember the anger. I remember the rocking chair in Riley’s ICU room where I spent many hours watching her sleep and begging God to let me take her place. I remember the empty feeling.

Have I questioned God’s purpose? Yes. Have I been angry with God? Yes. But even at the darkest of times when I have felt alone, God has been there. I may not have felt it at the time, but looking back, I know that it was God who got us through the tough times and still gets us through those times today. I went through a period of complete bitterness. I felt that as a Mom, I had let my daughter down. I couldn’t fix the ‘boo boo’ with a kiss or protect her from fear or pain. I had no control of the situation. I questioned God as to why he would allow a child, MY child to go through so much pain and sickness. Instead of praying, I argued. I wouldn’t go around other Mom’s who had ‘healthy’ children. I grew more bitter when other people would boast and brag on how blessed they were. I distanced myself and wrapped myself around the negative, never looking for the ‘good’ in Riley’s situation. To me, nothing good could come out of a situation where my daughter was having to fight for her life. It just didn’t seem fair!

But, you know what? Good DID come from Riley’s situation. We have been taught life lessons that can’t be found in text books or taught in a classroom. I have learned to be grateful, truly grateful for the little things. Not a day with her is taken for granted! I get overly emotional on the first day of a new school year because not only is Riley growing up, she’s beginning a new chapter in her life. One that I’ve feared we wouldn’t get to see. I cry each time Riley reaches a new milestone, rather it be losing her first baby tooth, learning her first cheer or getting a new ‘big girl’ haircut. So when I randomly have emotional breakdowns, bare with me  I don’t take birthdays very lightly because I know that every year is a gift. God’s gift. God had every right to tell us ‘no’ when we prayed for him not to take Riley. Instead, he has entrusted us to raise her and allowed us to witness HIM through the life of our child. For me, there is no greater honor! Am I overly protective? You better believe it! Do I worry alot? Of course (I’m a Mom) and because we know that just because she may look okay on the outside, doesn’t mean that everything is okay on the inside. We are never guaranteed that tomorrow we won’t be back to where we were four years ago and honestly, it scares me. This disease is rare and we know that she can relapse at any time, but I also know that God knows what’s in store for Riley long before we do.

You can ask Riley about angels and she’ll tell you she sees them. I get chill bumps when she describes how beautiful they are in great detail. You can ask Riley where she was when Mom and Dad were at her bedside those first few critical nights in the hospital and she’ll tell you she was being rocked by Jesus in a rocking chair. I wasn’t allowed to hold her, but she was being held. Some may call her (and me) crazy. I believe her with all of my heart. I believe that she has witnessed and seen things that only others can imagine. I know that even though her body isn’t healed completely from disease, that God has helped heal me as a christian, a wife, a mother and so many more can say the same. My daughter has taught me more then I could ever have taught her about life. I believe she has been given insight and wisdom far beyond what some can comprehend. I believe God has a plan for my Riley!

Tiffany Cox

Samantha Walker - Cystinuria

‘MEET SAMANTHA!’

I was diagnosed with Cystinuria in November 2010. I had problems from August 2008, but was not believed until I had an actual blockage that September. I was stented, but due to being scared and doctors cancelling appointments on me the stent was left in for over a year. I had no more problems until January 2010 when I was admitted with serious pains in my left side where the stent was left.

I was told that stones had grown all over the stent so they had to go in via my back and remove the stent. All went well with the operation, but I suffered very bad pains constantly and spent a lot of time in and out of hospital. Finally, I was able to get the stones tested.

Then in November 2010, I was told that it was Cystinuria or as he called it “Cystine Stones Disease.” I was told to keep active, drink a lot of water and take pain medications. I have only been in the hospital twice for stones this year, as opposed to the countless amounts of time last year and no surgery was needed both times.

It has been a real journey, but now my doctors are “in the know” due to an information pack I made for them.  My last hospital trip was a 24 hour one. They knew me and my condition, so I was processed quicker and given extra pain medications to help me cope. I passed stone and went home.

Although at times it is hard to deal with as no-one else in my family has this, I have found a couple of greatly supportive Facebook groups that have helped me more than I think they realize. I continue to go from strength to strength with everyone’s support.

Samantha Walker
Norfolk, UK