Please respond TODAY to the RDLA’s Call To Action by contacting Senators Harkin D-IA) and Enzi (R-WY) asking them to add back in the language from HR 4132, the FAST Act.  We will re-post the RDLA’s Action Call if you wish to learn more about the details.

CALL TO ACTION – TODAY!

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!

Meet Reed!

In January of 2011, we learned that our then three and a half year old son Reed has Sanfilippo Syndrome Type A, a rare and fatal Neurodegenerative disease. The disease is very rare, affecting about 1 in 70,000 births. To put that in perspective, according to NOAH, you are seven times more likely to be struck be lightening over the course of an 80 year life than be born with the disease. Sanfilippo is an autosomal recessive disease, which means my wife and I are unwitting carriers. Reed’s genetic defect results in a missing or dysfunctional enzyme which results in accumulated material in the brain, resulting in progressive brain damage. Without treatment the prognosis is bleak. He will lose all his skills: the ability to talk, walk, eat, breath and likely die by age fifteen. That is the bad news. The good news is that there is hope for the future!

A phase I/II enzyme replacement study has been initiated overseas by Shire HGT. We have spent this year participating in a Natural History Study for Sanfilippo Syndrome, where researchers are studying the natural progression of the disease. The natural history study is being performed in preparation for multi-national pivotal study which we hope will begin in 2012! The road forward is not easy, enzyme replacement for Sanfilippo and many other central nervous system diseases is complicated by the blood-brain-barrier which protects the brain. Because of this barrier, drugs will have to be administered intrathecally – meaning through a port connected to a catheter that goes all the way to his spinal fluid. However, we know and understand the risks and are prepared to do whatever needs to be done.

Over this year I truly learned the lesson that happiness is not having what you want, but wanting what you have. Reed is now four and a half, we spend our evenings watching Dora and Goofy and that is just fine by me. In fact, even if treatment only halts the disease or offers minimal recovery, I would consider myself blessed to watch cartoons with him for the rest of my life. I would be lying if I said that things were rosy. Serious chronic illness in a child is stressful and results in a lot of sleepless nights for everyone. At the same time, I have met many amazing parents that have dealt with multiple affected children who have somehow kept it together through very tough times. They handle life with grace, humility and a sense of humor that leaves me in awe. The connections that I have made with these families, mostly through the National MPS Society and Facebook, have been so important. I am inspired by their strength and the hope that our best days are yet to come.

You can learn more about us or follow our blog at http://rallyforreed.com
Website for the National MPS Society: http://www.mpssociety.org

Roy Zeighami

‘Meet Connor!’

Connor is a typical 5 year old boy, except, he has a life threatening condition. He loves to play with cars, hang out with his friends, and pretend to be Spiderman. But sometimes the fun times take a back seat when he is home sick with a cold because of his low immune system or needs to rest because he is too fatigued.

We knew from 6 months old that his frequent respiratory infections were a sign of something more than the common cold, despite hitting all his previous milestones. After 2 years of blood work to understand his low immune system, muscle testing and physical therapy to understand his “wobbliness”, Connor was seen by a Neurologist at Shriners’ Hospital in Tampa, Fl who recognized his symptoms. DNA sequencing confirmed his assumption and Connor was diagnosed with AtaxiaTelangiectasia September of 2009.

Connor currently shows minor physical signs and often says his legs are “tired” and wants to be carried. He receives physical, occupational and speech therapies daily and is on daily anti-biotics because his immune system is weak which elevates his risk of developing leukemia or lymphoma 1000% higher than his friends. Routine quarterly blood work is drawn to monitor his immune system. Most children with A-T are in a wheel chair by 8-10 years and need assisted technology to keep up in school.

With no formal treatment, no cure and no support from large pharmaceutical companies as A-T is considered an orphan disease, the life expectancy of an A-T child is typically in the teens to early 20′s.

We cherish every day and live life to our fullest potential because we never know what tomorrow will bring.

Samantha Dzembo
Florida

Despite the rarity of Nager Syndrome, with the internet we were able to learn much more in the first few days of her life than what the hospital could provide from their outdated genetics books.  We have been able to reach out to other families whose children have Nager Syndrome and have even met a few in person.  We are blessed to have strong support from our family, but through the Nager and Miller Foundation we have also felt part of another “family” who understands the unique challenges and joys that we experience with a child like Peyton.  Through our blog www.peytonsparents.blogspot.com we have had many families reach out to us who have children that are newly diagnosed.  We even had a family contact us before their child was born, and seeing Peyton’s smiling face brought them hope in a time of great stress.

The Global Genes/RARE Project, is just one more “family” that we can feel a part of.  In December, I received a bracelet as part of the 7000 Bracelets for Hope project.  Although I have never met the jewelry designer, Eileen has made me feel such hope that there are others just like her in the world who will make Peyton’s path easier.

Thank you!

Tracy Smith
Utah

(RARE Project – Dana Point, CA) Rare Disease affects 350 million people worldwide, consisting of 7,000+ identified diseases and disorders.  Currently less than 5% of all rare diseases have any type of therapy or treatment, and much of the early stage research is frequently seed-funded by parent advocates, advocacy organizations and non-profit groups. There is an important new trend in rare disease research where a group of rare disease advocates (sometimes representing different rare diseases), collaborate, and pool their resources to fund promising early research.

Led by the Team Sanfilippo Foundation, a group of worldwide charities has announced a $145,000 AUD grant to Dr Kim Hemsley and Professor John Hopwood in Adelaide, Australia to study the fundamental disease processes involved in the pathology of MPS III Sanfilippo Syndrome.

“The ability to treat symptomatic, older patients is crucial not only for patients currently living with neurodegenerative disorders like Sanfilippo Syndrome  but also for  future patients that will inevitably go undiagnosed until they show symptoms.  Given the rarity of lysosomal storage diseases, global collaboration is required to obtain critical mass in our collective battle. ”

-Kathleen Buckley, President of the Team Sanfilippo Foundation

“Collaboration is critical and necessary for the rare disease community on all fronts.  From helping build awareness to funding research, the more we unite the more impact can be made.  Those forward thinking organizations that understand this will move the needle much more quickly for their specific causes.  The Sanfillippo community is making strides on important research that will ultimately help find treatments and cures much more quickly.  They are a model for others.

-Nicole Boice, Founder of the R.A.R.E project

Sanfilippo Syndrome is a rare and progressive neurodegenerative disease affecting 1 in 70,000 births¹.  It is caused by a genetic defect resulting in a dysfunction of one of four crucial enzymes.  The absence of any of these missing enzymes results in an accumulation of heparan sulfate.  The disease primarily affects the brain and central nervous system.  Children develop normally for the first couple years of life and then suffer progressive loss of skills including the ability to talk, walk, eat and even eventually breathe.  Affected children typically die as teenagers.

There is hope that the current treatments in human clinical trials, enzyme replacement and gene therapy, will halt the progression of the disease but are not expected to fully recover lost cognitive ability.  While a missing enzyme and resultant build-up of waste materials are implicated as the root cause of the disease, incomplete knowledge exists as to the precise damage mechanisms at play in the pathology of the disease.  Understanding these processes is important to improve the life of patients whose treatment has begun after they show symptoms.  As newborns are not screened for the disease, most patients are not identified until symptoms present.

This effort will use the latest science to study the real-time progression of the disease in a mouse model, enabling an understanding of what goes wrong and why.  The ultimate goal is that this new understanding will lead to more effective treatments and a better understanding of what, if any, of the damage might be reversed.

While this study will focus on Sanfilippo Syndrome, the findings of the study will benefit those suffering from similar disorders with similar pathways (e.g. Hunter Syndrome, Hurler Syndrome, Tay-Sachs, and others)

For more information regarding ongoing clinical trials in Sanfilippo Syndrome, see:

Sanfilippo Syndrome Type A

http://clinicaltrials.gov/ct2/show/NCT01155778?term=sanfilippo+syndrome&rank=3

http://clinicaltrials.gov/ct2/show/NCT01047306?term=sanfilippo+syndrome&rank=4

http://clinicaltrials.gov/ct2/show/NCT01474343?term=sanfilippo+syndrome&rank=6

Sanfilippo Syndrome Type B

http://clinicaltrials.gov/ct2/show/NCT01509768?term=sanfilippo+syndrome&rank=1

Inquiries regarding this effort may be made to teamsanfilippo@gmail.com.

Funding for the project is provided by

• Team Sanfilippo (USA) www.teamsanfilippo.org
• Stop Sanfilippo (Spain) www.stopsanfilippo.org
• Little Maciek & Great Wizards (Poland) maciek.lepszypoznan.pl/
• The Sanfilippo Foundation for Children (USA) www.sf4k.org

This press release was generated in collaboration with and sponsored by the R.A.R.E Project, a 501c3 non-profit organization whose mission is to increase awareness, build a connected community and catalyze funding for early research, all in an effort to make life better for those living with rare disease.  For more information www.rareproject.org

¹ Sanfilippo Syndrome Retrieved January 19^th, 2012 from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002190

Kids Helping Kids Volunteers - Kyle and Jackson Watkins, with Lynn Watkins and Lisa Hubbard of Sempra Energy Supporting Global Genes Project

Sempra Energy Foundation and Southern California rare disease advocates work to raise awareness and volunteer for the Global Genes Project, a RARE Project initiative. Family and friends gathered together to help make denim ribbons in support of the Global Genes Project’s efforts to support those children and families affected by rare disease. ”It has been an honor to participate as a volunteer for this important effort. Awareness is needed for rare disease so that more therapies and treatments can be brought to these families that are suffering with life threatening and chronic illness.” said Sempra Energy employee Lisa Hubbard.
For more information on how you can help and become part of this movement to support rare disease families worldwide, join us at www.globalgenes.org

A special collaboration among the RARE Project, Grand Rounds, and The Afternoon Nap Society will use social media to connect patients and healthcare providers while raising awareness of World Rare Disease Day (coming up on February 29).

As a rare disease patient and healthcare blogger, I saw a unique opportunity to facilitate this collaboration, which will bring RARE Project’s rare disease blog hop together with Grand Rounds, an online collection of each week’s best in healthcare blogging. As a participant in the RARE Project’s Jan. 30 blog hop and as host of the week’s edition of Grand Rounds, The Afternoon Nap Society will serve as crossroads for readers. Those readers following RARE Project blog hop posts will be linked to Grand Rounds’ featured posts, and those readers who follow Grand Rounds will be linked to the RARE Project blog hop as one of the weekly edition features. “Grand Rounds has always sought to highlight the best of the healthcare blogging community, and the RARE Project’s mission is certainly worthy of recognition and acclaim,” said Nick Genes, MD, PhD, who is Grand Rounds’ founder and a resident in the Emergency Medicine program at Mount Sinai Hospital in New York City. “This collaboration represents a rare opportunity to align goals. We’re thrilled to be working together.”

This collaboration has the potential to bring together bloggers from around the globe to raise awareness of World Rare Disease Day, held on Feb. 29, and facilitate the exchange of information and ideas among healthcare professionals, patients, advocates, caregivers, and journalists. It is yet another testament to the fact that social media has emerged as the new frontier in medicine. Its rapid, interactive format and global reach provides healthcare professionals and patients with the ability to exchange information and ideas with an audience that is larger, more diverse, and more widely geographically distributed than traditional face-to-face interaction ever would allow.

It is my hope that this collaboration among The Afternoon Nap Society, the RARE Project, and Grand Rounds will help others use social media to breakdown geographic borders, make connections with one another, and learn more about the rare disease community. Whereas patients with more common diseases such as cancer or diabetes stand a very good chance of knowing someone who has been affected, a rare disease patient — particularly one who lives outside a highly-populated metropolitan area — may be the only patient with his or her diagnosis at a doctor’s practice. I know I am. Social media helps reduce the isolation rare disease patients may experience. I was fortunate that shortly after my diagnosis with intimal fibromuscular dysplasia, I connected with another fibromuscular dysplasia patient on the Mayo Clinic’s discussion forums. That connection resulted in additional connections around the world, and now I have a online community of patients and healthcare providers that I consider to be family as much as friends. As a group, we are making rare feel so much less alone.

For more information about RARE Project, visit rareproject.org, or to sign up to participate in the RARE Project’s blog hop, email bloggers@rareproject.org by Jan. 23. Discover more about Grand Rounds at  getbetterhealth.com/grand-rounds. To connect with The Afternoon Nap Society and learn more about how to submit a post for the special collaboration edition of Grand Rounds, visit afternoonnapper.com. Please also follow @RAREproject, @grandrounds, and @afternoonnapper on Twitter, and find us all on Facebook too.

–
Happy napping!

@AfternoonNapper

afternoonnapper.com
facebook.com/AfternoonNapSociety
cafepress.com/TheAfternoonNapSociety

Wear That You Care - February 2012 supporting rare disease families!

Rare Disease Day at NIH (RDD@NIH)

On February 29, 2012, the National Institutes of Health (NIH) will celebrate the fifth annual Rare Disease Day with a day-long celebration and recognition of the various rare diseases research activities supported by the NIH Office of Rare Diseases Research, the NIH Clinical Center, other NIH Institutes and Centers; the Food and Drug Administration’s Office of Orphan Product Development; the National Organization for Rare Disorders; and the Genetic Alliance.

Rare Disease Day at NIH (RDD@NIH) will be held in the Clinical Center’s Masur Auditorium (Building 10) from 8:30 a.m. to 5:00 p.m. Attendance is free and open to the public.

In addition to the various scheduled talks, we expect to have posters and exhibits from many groups relevant to the rare diseases research community. In association with the Global Genes Project, we again encourage all attendees to wear their favorite pair of jeans.  While attendance is free, we would like to know how many people are planning to attend to prepare accordingly. If you would like to display a poster or exhibit, please include that information on your registration form.  You can contact Dr. David J. Eckstein at eckstein@od.nih.gov for more information. The NIH Office of Rare Diseases Research encourages all attendees to also plan on attending the Food and Drug Administration’s Rare Disease Day activities on March 1, 2012.