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!

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

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

Christopher age 4 Prior to Diagnosis

Raising Awareness

for MPS II

When he was 6 years old, Christopher Dutcher was diagnosed with Mucopolysaccharidosis II (MPS II), commonly referred to as Hunter Syndrome .  Remarkably, at the age of 28, Christopher has a dual MBA in Marketing.  This is remarkable because many of those affected with Hunter Syndrome can have a significant degree of mental and central nervous system impairments .  Fortunately, not everyone is affected by Hunter Syndrome in the exact same way.  Recently, the Global Genes Project (GGP) team had the opportunity to speak with Christopher about his life and goals living with Hunter Syndrome.

How are you Feeling?

“I’m stable.  I have what is considered a mild case.  Approximately 2/3 of individuals with Hunters are severe and have delayed development until about age 7.  As they get older, their central nervous system and mental development actually reverses and eventually they will pass away during their teen years.  My CNS (Central Nervous System) is not affected and my brain isn’t affected.”

Does Hunter Syndrome inhibit you in any way?

“I couldn’t read until the 4th grade.  I had special ed for 40 min a day until the 7th grade, but my reading ability did catch up.  I have only about 30% lung capacity.  I get short of breath very quickly.  But, I try to get to the gym 5 times a week.  I usually only make it 3 or 4 times.”

Wow.  What type of exercise do you do?

“I’m very active.  Usually I do strength exercises along with 20 min intervals on the treadmill.”

You were diagnosed at age 6.  What made your body’s reaction to Hunter Syndrome less severe than others?

“I had 7 operations before the age of 18.  And at age 17, I was actually the first test person to be given the drug Eleprase.  This drug halts the progression and provides an enzyme the body is missing.  Eleven years ago, there were 12 patients in the trial, and since the study two people have died.  Both of them were my friends.”

Chris and his Brother Cody each have Hunter Syndrome

Do you have any siblings?

“Yes.  My brother Cody also has Hunter Syndrome.  We both had a Wish for the Make-a-Wish Foundation.  Cody wanted a trip on a Disney Cruise.  My wish was to play hockey with the Mighty Ducks.”

What have you been doing over the last year? 

“I have received my project management certificate and Six Sigma Green Belt.  I have met with Congressman Howard Coble regarding my support of the ULTRA Act.”

“Due to the rarity of MPS disorders, I attempted to start a charity to raise awareness and realized it was a bit more intensive than I had imagined.  So, I recently had an opportunity to speak to children at their school discussing anti-bullying.”

Have you been bullied in the past?

“My friends defended me a lot.   I actually became friends with a guy who started making fun of me with “short jokes”.  His name is Kenny and we are friends now.”

What did you speak about at the school?

“I discussed anti-bullying, and just because you have something wrong with you doesn’t mean you can’t function like others.  I showed pictures of famous individuals that have psychological or cognitive disorders.  While I spoke about anti-bullying, I also raised awareness about MPS II.”

You made a video called “Courage to Make a Difference”.  Why did you use index cards instead of verbalizing your thoughts.

“I was inspired by Ben Breedlove, the 18 year old teenager who lost his life from complications with his genetic disorder , hypertrophic cardiomyopathy.  Ben had created a similar video.  And, I thought for five minutes and realized that speaking can be boring.  People who are listening will probably not finish watching, but reading would make a greater impact because people are curious and want to finish the story.”

Christopher – what are your ultimate goals? 

“My goals are to help people appreciate others, raise awareness about Hunter Syndrome and rare disease .  I would like to make an impact about openness and acceptance.  Let’s attack bullying before it happens let’s be proactive instead of reactive.”

The Global Genes Project and Rare Project

Raising Awareness about Hunter Syndrome (MPS II)

On February 7, 2012,  WWL-TV, the CBS affiliate in New Orleans, reported on Christian Billingsley, a 17-year old boy diagnosed with atypical hemolytic uremic syndrome (aHUS) at 3 months of age.

(click on title/link above to see WWL-TV video)

Doug Mouton / Northshore Bureau Chief

February 7, 2012

ABITA SPRINGS, La. — A medical breakthrough is making a normal life possible for a Northshore teenage with a rare disease. Seventeen-year-old Christian Billingsley has Atypical Hemolytic-Uremic Syndrome, which is usually referred to as aHUS. For now, Christian’s young life is dominated by kidney dialysis. An in-home dialysis unit sits permanently in his bedroom. Christian is hooked to the unit six days a week, for three to four hours at a sitting. “It’s painful getting on, and sometimes, because of the way fluid comes off your body I can get cramps while I’m on it,” Christian Billingsley said. “That can be painful too.” For a high school sophomore, daily dialysis makes having a normal social life virtually impossible. Often, Christian gets home from school, starts homework, gets on the dialysis machine, and by the time he’s finished with dialysis, it’s time for bed. As inconvenient as it is, that dialysis machine is literally keeping him alive.

The Family Journey

Christian is now the oldest of Gene and Aida Billingsley’s three children, but before 14-year-old Gabrielle and 8-year-old Brandon were born, Christian was already suffering effects from his disease. The family journey began when little Christian was only three months old, with a huge bout of projectile vomiting. “And he broke out in little bruises all over his body called petechiae,” Gene Billingsley said, “it literally looks like a rash over the whole body.” By the next day, the Billingsleys had a diagnosis, and their fight against aHUS had begun. The disease causes clotting problems and often attacks the kidneys. And the Billingsleys quickley learned of the recurring nature of aHUS. “We’d be in the hospital two weeks, we’d come out, we’d be home a week,” Gene Billingsley said. “It’d come back.” Eight months after the initial diagnosis, Christian’s kidneys went into failure, and he was put on dialysis for the first time.

When Christian was two, Gene Billingsley donated one of his kidneys to his son, with the hope that the new kidney would cure Christian’s problems. Gene Billingsley said, they also had realistic expectations, and knew that even if the kidney didn’t help in the long term, it would benefit Christian’s development short term. And it did, Gene and Aida said. Their goal with their young son was simple: keep him alive and do anything they can to keep him as healthy as possible, until medical science caught up with their son’s disease. The replacement kidney lasted just six months before failing. “So we were completely out of the option of another transplant,” Aida Billingsley said. “He was on dialysis indefinitely.” Christian was surviving, but on a medical rollercoaster. “We would do ok for a year or so,” Aida Billingsley continued, “then we would have some complication, something big happened, and we’d be in the hospital for months at a time.”
The lowest point came not long after Katrina, in late 2005, when Christian was near death in a Memphis hospital. “He was massively infected,” Gene Billingsley said. “All his organs were shutting down.” “The sicker he got, the less he wanted to fight. He was very discouraged, I guess,” Aida Billingsley recalled. “It just got to the point where he wasn’t interested in doing what he needed to do.” Christian survived that near death episode, and it wasn’t the only one. “Five times where the doctors have said, it’s touch and go right now,” Gene Billingsley added.

The Breakthrough

Then in September 2011, the Billingsleys got the medical breakthrough for which they had been waiting. The FDA approved a drug called Soliris, and medical science had caught up. “We did it,” Gene Billingsley said. “This drug takes away all the issues that come up with HUS.” Since getting on the drug, Christian said he feels, “Amazingly different.” He’s healthier now than at any point in his live, and the Billingsleys expect soon, possibly within the next month or two, that Christian will be able to get back on the kidney transplant list. “It would be a miracle in Christian’s life, absolutely,” Aida Billingsley said. The possibility of getting off daily dialysis means Christian can now consider college choices all over the country. “I can go anywhere,” Christian Billingsley said. “It’s like the whole country, like I had a couple little dots on it, and now it’s all lit up.”

For the first time in his life, he said, he feels almost normal. “It’s amazing,” Christian Billingsley said. “I never doubted we’d be in this spot,” Gene Billingsley said. “I just had it put on my heart, in the first couple months that he’s going to be all right.”

Thank you WWL-TV for allowing us to re-print your article!

GLOBAL GENES PROJECT AND RARE PROJECT

RAISING AWARENESS FOR Atypical Hemolytic-Uremic Syndrome (aHUS)

Sydney_Epilepsia Partialis Continua, EPC

‘MEET SYDNEY!’

Life couldn’t have been more perfect.  My husband and I had great jobs, we bought a house in the country and we had 2 healthy twins, a boy and a girl.  Life was good.  We moved to our house when the kids were 2 years old. A year later, life as we knew it would never be the same.  Shortly after the kids turned 3, our daughter, Sydney started having seizures which turned into a constant twitch that started in her face and quickly spread over her entire body.

At a follow-up visit with her neurologist, the twitching was diagnosed as EPC, Epilepsia Partialis Continua. He suggested starting four medications to try and control it and Sydney was admitted that day.  After a week of numerous medications that did not work, her doctor wanted to try a 48-hour drug induced coma to let her brain “reset” and hope the EPC would stop. During that week of trying medications, Sydney came down with the flu from other patients on the floor that had severe cases of it.  The coma lasted 6 days instead of 2 days since the medication for the coma was overshot.  Little did we know, the flu attacked her lungs shortly after being intubated for the coma.  Having the flu while being intubated, resulted in Sydney being put on life support for 16 days.  Life seemed to be spinning out of control and we came very close to losing her twice during those 16 days.  All of the odds were against her and she beat them, the proving doctors were wrong.  She also developed a life threatening DVT blood clot from a central line during this time as well.

Sydney was severely deconditioned from being in a hospital bed for such a long time.  She went through 3 weeks of intense inpatient rehab before coming home 87 days later from what was supposed to be just a follow-up visit.  She gained back everything she had lost, from learning to eat to walking. Once Sydney was home, a few months later she started regressing. Turns out her seizure medication was an extremely high dose and turned her into a vegetable for the next year.  She lost everything she just gained back in rehab.  Our fight was not only to figure out the seizures but also dealing with the numerous complications.

Even during the darkest days where we almost lost Sydney to every little set-back, we never lost hope.  It is really all we had. Sydney has stumped the doctors from several institutions.  After numerous tests that have come back normal, they have no idea what is wrong with her or how to treat it.  We felt so alone fighting this battle since all these doctors have never seen anything like it until recently.   We found another little girl with the same symptoms through an article on CNN and the NY Times about the Undiagnosed Disease Program at the National Institute of Health.  We are no longer alone.   Now we are sharing hope across the miles from the East Coast to the West Coast that they can figure out what is happening to our little girls.  As soon as we found this family, we knew more children had to be out there fighting the same battle.  That is when Syd’s Kids formed to try and spread awareness and never lose sight of hope.  A movie has been made and is currently on YouTube.  The movie has reached people around the world.  We are hoping that if we find enough children with the same symptoms it will point to a clue as to what is causing this and hopefully a successful treatment.

Hope is a powerful thing.  Each day is a challenge and all you can do is to never lose sight of hope.  We don’t know what monster has taken over our girls.  We don’t know how much time we have since there is no diagnosis.  We don’t know what we are going to face from day to day.  All we do know is that another family knows what it is like to live in our shoes.  That in itself strengthens our hope and gives us strength to keep on fighting for our daughters, that some day they will figure this mystery out.

Carrie Marko
Pennsylvania

GLOBAL GENES PROJECT AND RARE PROJECT

RAISING AWARENESS FOR Epilepsia Partialis Continua (EPC)

Madison Sonja Van Leeuwe lost her battle against Carbamoyl Phosphate Synthetase in May 2010

Madison Sonja Van Leeuwe was born on Christmas Day 2009 after a normal labor and delivery.  After an uneventful hospital stay, Madison was discharged home two days later.  Only a matter of hours after she was home, Madison began having difficulties breathing and started turning blue. She was rushed through a Minnesota blizzard to the nearest emergency room, which was located about 8 miles away.  That was where Madison began having seizures, was intubated, and flown by helicopter to a larger hospital in Sioux Falls, South Dakota.

Madison had many tests done for what was thought to be some type of infection. By the following afternoon, Madison was transferred across town to a different hospital to be evaluated further by a neurologist.  The next hospital did multiple tests including an ammonia level, which revealed an extremely high level.  The doctors there got in touch with the genetics doctors at St. Mary’s Hospital (Mayo Clinic) in Rochester, Minnesota.  After only a couple of hours of being in that hospital, we were informed that the doctors were suspicious that Madison was suffering from some type of metabolic disorder and that we would need to be transferred to Rochester.

Madison spent the next nine to ten weeks in the NICU at St. Mary’s Hospital, while the doctors tried to stabilize and learn more about Madison’s mysterious diagnosis, which was later confirmed to be CPS (Carbamoyl Phosphate Synthetase).  After many up’s and down’s Madison was finally discharged home near the beginning of March 2010.  Madison was hospitalized multiple times with recurrent ammonia spikes.  She required dialysis on more than one occasion, as well as multiple surgeries for access lines.  Although Madison fought with all she had, it became too much for her body to bear.  The overwhelming ammonia levels had slowly decreased Madison’s brain size and functionality.  Madison’s neurological status was not good.  She no longer carried that sparkle in her eyes, and she looked generally uncomfortable.  We knew she had had enough; we had to let her go.  The only known cure for CPS at this time was a liver transplant.  We had been waiting up until that point, until Madison grew bigger and showed us how her neurological status was developing, before she could be placed on the transplant list.  However, the ammonia levels became uncontrollable, and we placed her on comfort care.  She spent her final days in the PICU at St. Mary’s; it was like her second home.  She passed away on Ascension Thursday, May 13, 2010.

She is not alone in Heaven, as she is in the company of her sister, Sheridyn, whom we said goodbye to on June 24, 2011.  Through prenatal testing, we learned that Sheridyn would have been affected by the same debilitating disorder; we could not bear to put her through that.  Madison has inspired me to share her story with the world, as her story, “A Balloon in the Snowstorm” is the process of being published and is expected out this spring.  My hope and goal is that from what I have learned from my experience with my daughters and in dealing with CPS, that I can raise awareness of CPS in hopes of giving future babies, who are born with CPS, a chance at early diagnosis and a real chance at life.  More information on CPS and other urea cycle disorders can be found at www.nucdf.org.

Thank you for taking time to read my story.

Sincerely,
Sonja Van Leeuwe

GLOBAL GENES PROJECT AND RARE PROJECT

RAISING AWARENESS FOR Carbamoyl Phosphate Synthetase (CPS)