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Dear RARE Bear Army,

Each of you have contributed to our extraordinary growth and success this year!

In holding true to our mission to accelerate finding cures for kids with rare disease, we have built the foundation on which we can scale in the new year to touch the lives of even more rare kids, empower more patient families and provide research tools and knowledge that can open doors to finding therapies that can be used in the more immediate future. It is only because of your dedication to this vision did we achieve the following milestones (there were so many - here are just a few of the great things that happened this year because of you!):

•  We have brought awareness and support to 70 rare disease patient communities through our RARE Bear Program with gifting bears to kids across 25 countries. As we have all experienced, the RARE Bear Program helps families at so many levels - bringing joy to the kids, support to the families and education to the community for early diagnosis. In addition, the RARE Bears help us accelerate finding therapies as the building of cohesive patient community is the first step to research programs that can have clinical impact.

•  We have built a grassroots community, the RARE Bear Army that represents 12 countries and over 1000 people making RARE Bears to build community, awareness and early diagnosis that includes an international genetic counseling network to identify kids around the world.  Our program is recognized and supported by Simplicity/Wilton, BERNINA, Spoonflower, The Quilt Show, Goldman Sachs, Zubatkin, Fabrix/Mountain Mist, and many more.  We also have girl scouts, schools, service groups supporting our efforts with hands on help in San Diego.

•  Check out our new RARE Bear Program video! 

•  We had Celebrity Quilters make a stand with us for kids with rare disease and held our first online auction fundraiser and event at our first Houston Quilt Festival (and survived!).  We are so thankful for the donation of time and skill to our cause by each of the 22 Celebrities.

•  We launched the applied advocacy program through CIRM Bridges - California State University San Marcos/Thermo Fisher funded a program to provide training to new stem cell researchers about the obstacles that rare patient families face with the aim that they not only learn about the challenges of rare disease research and application of stem cell research, but also learn to approach their research with the same urgency of parents with rare disease.  We are excited to see the 5 stem cell proposals representing 4 rare diseases (ADCY5, SYNGAP, NBIA, atypical Battens) presented in the new year.  (see photo of Families and students at ThermoFisher training site)

•  We launched the landmark first rare disease patient stem cell program with ADCY5 patient community lowering the barrier of access to tools for researchers working in this field.  (press attached for those who have not seen it!) (see photo of the Grossmans and I visiting ADCY stem cells at CDI/Buck Institute)

This next year’s efforts will be life changing for the patient families as we continue our existing programs and build out our cloud-based knowledge pooling capabilities.  There is some hard work ahead but I know that together we can continue to push the envelope and empower rare patient families with the tools they need.  There are no other individuals than the Mothers and Fathers of kids with rare or undiagnosed disease that will fight with urgency against the time passing by as they watch their child’s disease progress.  It is these parents and patient family communities that we at RARE Science are making a stand as they will be the ones uniting the individual rare/undiagnosed communities to take action.  By empowering rare/undiagnosed patient families with cloud community building tools that include health data storage, reporting/tracking and sharing, we can overcome geographic barriers to obtaining health data leading to biological understanding of rare diseases that can lead to identification of therapies.

We know that further expansion of our data platform to include the capability of permission controlled patient family communities will be instrumental in building the RARE Science framework of offerings and also empowering our families to “own their own data” (medical record storage), self-report and share information across the community.  The self-reporting tool, we feel, is one of the most important aspects of the functionality of the patient community platform not only for the patient families to keep track of the health of their child but pooling this information across the individuals within a community will be fundamental in creating a baseline of understanding of a particular rare disease.  Identifying what is similar or dissimilar across the affected individuals may enable us to elucidate the genetics and other biology that may be directly related to the observable traits.  It is envisioned that the self-reporting tool will allow families to capture information/data in real time at home or through a mobile App.  This information could be used to report back to clinical appointments but most importantly, shared across the patient community and with other stakeholders such as clinicians and researchers, this information could be used to identify new trends revealing new biology that could lead to new therapeutic solutions for these kids.  We envision RARE Science as an entity that fosters and facilitates collaboration and data sharing, providing this neutral community space to bring together all stakeholders, patient families, researchers and clinicians aligning incentives and strategies to accelerate discovery to clinical impact. We have begun, the initial concept and design utilizing the platform, as we have been a grateful beneficiary of volunteers that share an equal passion for this much needed capability to come to life.

Our success in helping more families and more kids next year will be through your continued dedication and commitment to the RARE Science Mission! I am grateful for each of you - your endless volunteered time to RARE Science when I know there are many other things on which you could spend your time.   Instead I feel that we have come together because we all believe in the difference we can have - united, together I know we will be able to do great things for rare disease patient families in the New Year!

Happiness does not come from doing easy work but from the afterglow of satisfaction that comes after the achievement of a difficult task that demanded our best (Theodore Isaac Rubin)

Thank you for all you do!  Sending my warmest wishes to you, your family and friends this special Holiday Season.

All our best,

The RARE Science and RARE Bear Army Team