Genzyme Rare Community

We continue to promote Fabry awareness, even though the “official” Fabry awareness month of April has passed.  As part of that, we wanted to highlight a new and moving video about Fabry disease.

Facing challenges in life can be daunting, but to feel that you are not alone can be a comfort. Over the past year, we have been working together with members of the community to create a film called Facing Fabry Together (www.facingfabrytogether.com). Families from France, Germany, Brazil, and Canada opened their hearts and their homes in this film in order to help others living with Fabry disease.

Through the stories told by patients, families, and caregivers, this film highlights common experiences shared by those with Fabry disease. Asked about her involvement in this project, Adriana Slongo said, "I was very happy to participate in this video. The experience of sharing the story of my family with others was extremely rewarding. I hope to help families living with the same problem. Being a patient with a rare disease does not prevent human beings having hope of a better life and future."

May 15th marks the 7th Annual MPS Awareness Day! We are pleased to be joining the global MPS community in promoting MPS awareness with the ultimate goal of improving the lives of patients living with the disease. Genzyme is proud to participate in this effort and to support the entire MPS patient community. We encourage you to visit www.impsn.org/page/imps_day for more information or to send an e-card through the International MPS Network website.

LSD and rare disease patient organizations are eligible to receive up to $15,000 for new and creative ideas to support the LSD community. Don’t forget to submit your proposal by June 7th at www.genzymeadvocacyawards.com!

At Genzyme, we believe that when employees are able to hear directly from a patient about living with a genetic disease that as a company, and as individuals, we become more compassionate and committed. And as a result, we are able to do even more for our patients.

Recently, I was asked to invite a family to speak about their experience living with a genetic disease to a large group of senior Genzyme employees at a global strategy meeting. I have invited numerous amazing, articulate patients to speak at Genzyme over the years, but I had never been asked to invite an entire family.

For obvious reasons, the insights offered by families are very different from those of individuals. We know that family dynamics are complex, layered by the years with emotion and bearing witness to one another’s life experiences. Listening to a family tell of their very personal, shared journey connects us to ourselves, in our own roles as fathers, mothers, brother and sisters. Because we all know what it means to be part of a family, it becomes an emotional experience even for the listener. 

I knew of one family in particular that I thought would be interested in sharing their story about what Pompe disease has meant to them. Graciously accepting our invitation, all four of them mother, father and two children – traveled to Massachusetts. Hearing this family articulate and share their very personal story was transformative for many people in the room. Without even trying, they opened their world to us–a crowd of 150 people–and allowed us the privilege of a glimpse into their lives.

Calling all patient advocates! DIA, the nonprofit association that provides knowledge resources across the full spectrum of medical product development, offers a Patient Advocate Fellowship Program as part of their Annual Meeting. The DIA Patient Advocate Fellowship Program is designed to:

• Develop, strengthen, and support patient collaborations with policy makers, health professionals, industry representatives, and academia
• Increase the knowledge and understanding of patient groups about key issues central to patient-centered healthcare, biomedical research, and drug development
• Develop the capacity of patient groups to advocate for change
• Improve alliances between patient groups and other health care stakeholders
• Stimulate cooperation, promote dialogue, and share best practices 

DIA offers scholarships to patient advocates on a competitive basis, enabling advocates to attend the DIA Annual Meeting. Though this year's application period is closed, we encourage you to keep an eye on their website!  It is a great resource for learning and networking. Details can be found at the link: http://tinyurl.com/DIAFELLOW

We are deeply saddened by the events that took place at the Boston Marathon. We are grateful and relieved that all of our Genzyme runners, including the Running for Rare Diseases team, volunteers, patient partners and their families have all been accounted for and are safe. Thank you to our friends and partners around the world who have reached out to express their concern for our employees. The Boston Marathon has long been an event that represents courage, community, and selflessness and never was this more true than yesterday as we witnessed the bravery of so many who came to the aid of the victims. Our hearts go out to those who have been impacted by this tragedy.

In honor of Fabry Awareness Month, Kathleen Coolidge highlights a unique initiative by the Fabry Support & Information Group (FSIG) in Missouri. A big "thank you" goes to Jack Johnson, FSIG's Executive Director, for sharing this with our Rare Community readers!

Though Jack’s group is based in Missouri, he travels around the country to help raise awareness about Fabry disease. I’ve known Jack for several years, and one particular approach he takes towards educating physicians has always struck me as creative and dedicated. I thought readers of this blog might find this interesting, so I asked Jack to share his experience with us. Jack can be reached at: www.fabry.org.

Raising disease awareness and educating physicians about how to recognize affected individuals in the rare disease space is a never-ending task. As just one of an enormous constellation of rare conditions, raising awareness for a disease where there may be no visible signs of illness can be particularly challenging.

That’s what led me to launch FSIG’s “Eyes on Fabry” program to educate and spread awareness among optometrists. With Fabry leaving few outward signs on those afflicted, it is crucial to highlight findings that can lead to a correct diagnosis—and in Fabry disease, a regular eye exam can often be the trigger that leads to that diagnosis.

From November 28-30, 2013 in Heidelberg, Germany the Selbsthilfegruppe Glykogenose Deutschland e. V. (SHG–German GSD Patient Support Group) will be hosting for the first time an International Conference for Glycogen Storage Diseases. This conference will bring together the different types of Glycogen Storage Diseases and is open to researchers, patient organizations, industry, and physicians. World experts will discuss the state of research and therapies for the muscle and liver types in parallel sessions. The exchange of experiences will be stimulated by plenary sessions, addressing the challenges of rare diseases, developing therapies for rare diseases, and the benefits of building communities. Ultimately, the goals of the conference are to help promote scientific progress and better understanding amongst the GSDs, facilitate the formation of networks and building of a community between scientists, patients, and physicians, and industry who all have a shared goal of helping to improve the lives of those affected by Glycogen Storage Disorders. 

Already, participants from over 17 countries around the globe are slated to attend, from Brazil to Australia to South Africa. Thomas Schaller, the host of the meeting, has been a longstanding member of the International Pompe Association as well as the SHG. I asked him why he decided to put together this international forum. "Since my son’s diagnosis of Pompe disease almost 20 years ago, I've been lucky to be part of a growing worldwide GSD community of researchers, industry, and patients. I see tremendous benefit in joining forces and galvanizing stakeholders across regional borders, research interests, and disciplines. Organizing this conference is my tribute to the global team working towards one common goal: improving the lives of GSD patients," says Mr. Schaller. Please visit the conference website for more information and registration details. 
 

We are excited to launch our Third Annual Patient Advocacy Leadership Award (PAL Awards) program for LSD and rare disease patient organizations worldwide. In the first two years alone, twenty organizations from countries like Bulgaria, Canada, Chile, Hong Kong, Poland, and Thailand were selected by an External Review Committee to receive a PAL grant for their important programs. We are delighted that Genzyme’s support through the PAL program has provided the seed funding for many successful programs that benefit the LSD community.  

Check out the PAL Awards website at www.genzymeadvocacyawards.com to review past projects, get some new ideas and submit a proposal. Deadline for proposals is June 7th and awards will be announced by September 30th, 2013.