2016 RARE Patient Impact Grant Recipients

The RARE Patient Impact Grant program offers support groups and nonprofits that care for patients affected by rare diseases the opportunity to secure funding for projects that will make a tangible difference to patients and caregivers.

1p36 Deletion Support & Awareness
The 10th annual conference for this disease community will bring together parents and loved ones of those with ultra-rare 1p36 Deletion Syndrome to meet for the first time and gain access to medical professionals from around the world. Grant funding will ensure a successful first undertaking and allow the organization to convene preeminent expert medical professionals in the field in order to collaborate and exchange findings on the most current research, recommended care and advocacy strategies for this little understood community. Case studies generated as a result of this conference will advance 1p36 Deletion Syndrome understanding and set a foundation for catalyzing knowledge for this disease.For more information: www.1p36dsa.org
ADCY5.org Support and Research Organization
Grant funding will support development of an interactive and educational coloring book for elementary school children. This book is a first-of-its kind resource and will be a powerful tool for rare parents working with their child’s school and classroom educators.  This resource will also help other students understand what a rare disease is and how they can be a friend and supportive to their classmate with the disease. Peer support is essential for children living with a rare disease, and this resource will be made available to other rare disease communities as an educational tool for distribution amongst their networks.For more information: www.ADCY5.org
A Foundation Building Strength for Nemaline Myopathy
With grant funding, the foundation will host, Building Strength. Making Connections, an event that will be held in conjunction with the Nemaline Myopathy Family Conference. The grant will provide scholarships for families affected by Nemaline Myopathy, a rare, congenital muscle disease, based on need, to attend the Family Conference and provide for childcare while caregivers interact with clinicians and researchers to gain knowledge, including best practices for treatment, research and clinical trials. Grant support will allow additional Nemaline Myopathy families, who would not otherwise have access, the opportunity to attend this important conference, learn from the foundation’s medical director, and advance understanding of the disease that will contribute to the current research.For more information: www.buildingstrength.org
Alternating Hemiplegia of Childhood Foundation 
Grant funding will support the foundation’s biennial family meeting to provide Alternating Hemiplegia of Childhood (AHC) families a unique opportunity to learn techniques from leading experts on how to optimize day-to-day living with AHC, as well as the latest advancements in research.  The grant will fund families who cannot attend in-person by archiving the content and learnings to broaden the community’s ability to learn and participate through a virtual application. Case studies will reveal the effectiveness of this project that can serve as a model for other disease communities.For more information: www.ahckids.org
CADASIL Association
The Association will develop educational print materials for patients, caregivers and physicians to increase awareness of the cureCADASIL Family Registry though grant support. The materials will describe the registry and its goals in detail and specify who can join, why it is important, and how to participate. These materials will be distributed at four Registry Rallies – in-person events across the country designed to inform the community. The Rallies will not only increase the number of patients participating in the registry, but will also facilitate local meet-ups between CADASIL patients and caregivers to create and foster support networks.  The impact of this program will help speed research and potential therapy development for the CADASIL Community.For more information: www.curecadasil.org
Children’s Interstitial and Diffuse Lung Disease (chILD) Foundation 
Grant support will help fund Regional Education Days in an effort to fulfill the chILD Foundation’s 2016 objective to increase and strengthen community engagement.  These Education Days will provide families and physicians with the opportunity to exchange knowledge around new research and current treatment methods. Most importantly, families will be given the opportunity to form supportive relationships with other families in their region who are impacted by rare lung diseases. Fostering community and helping empower patients through education is critical to building successful partnerships with researchers, and in the development of future treatment, therapies and cures.For more information: www.child-foundation.com
Friedreich’s Ataxia Research Alliance (FARA)
FARA will expand its Ataxian Athlete Initiative (AAI), which funds the purchase of adaptive cycling equipment for people with Ataxia who want to stay active, despite their disease. More than three-quarters of past AAI recipients have used their equipment not only to enhance personal strength and improve overall quality of life, but also to start cycling initiatives that raise funds for research toward treatments and a cure for Ataxia.  This innovative program will impact and empower the FA community members in multiple ways, and is an example of an innovative program that can be modeled by other disease communities.For more information: http://curefa.org
Helping Hands for GAND, Inc. 
This grant will support a community of 26 to host its first GAND Family Gathering in the U.S. With just 17 diagnosed patients in America, the vast majority have never met another patient or family affected by the disease. Bringing people together for the first event requires tremendous hard work and commitment.  Those with GAND (GATAD2B-associated neurodevelopment disorder) face intellectual disability, hypotonia and limited speech. Although most patient cases are separated by great distances, this event will enable these families to finally come together to share resources, learn from researchers studying the disorder, advance disease understanding, and build a greater sense of community.  Families also will gain access to Cedars-Sinai Medical Center for labs and testing if they choose.  This data gathering project will be held in conjunction with the Family Gathering. This program will serve as a model for young, extremely small foundations or organizations that are looking to create a first-time event for their communities.For more information: www.gatad2b.org
Histiocytosis Association, Inc.
The Association will host three regional meetings where Histio families and patients will learn from each other’s experiences, share stories, celebrate triumphs and connect to resources and research. The grant will fund the effective implementation of this event including meeting materials, logistical support and travel stipends for patients and families. The goal is to generate case studies from this new program that can be replicated in regions throughout the country.For more information: www.histio.org
The grant will fund the creation of a first-of-its-kind ebook to provide education for parents and families, with a particular focus on arming parents and caregivers of just diagnosed infants with what they need to manage, understand and conduct their first and subsequent physician appointments. Families in the community will share best practices in this ebook, designed in accordance with Adult Learner Theory, on topics including childcare and school experiences. As an electronic resource, those learnings can continue to be updated and shared with new families. The project is designed to impact a large audience of families affected by Sickle Cell regardless of language proficiency and education level and will serve as a model for other disease communities e-learning resources.For more information: www.Hopeforscd.org
International FOXG1 Foundation
The foundation will expand their FOXG1 Equipment Lending Library which provides adaptive equipment to families with a child or children diagnosed with FOXG1 Syndrome. Since the majority of children diagnosed with FOXG1 cannot walk and rely on others for day-to-day activities, for adaptive equipment is a necessity.  The grant funding will give FOXG1 families access to essential equipment that would otherwise have been cost prohibitive.For more information: www.foxg1.com
International WAGR Syndrome Association
Grant support will allow families affected by this ultra-rare condition (225 affected in the U.S.) to attend the Association’s annual, international family get-together, called WAGR Weekend. Children and their families who have attended this conference in past years have shared, “We were magically joined by our amazing children. I was not an outsider looking in.” Most families have never met anyone affected by WAGR Syndrome prior to attending a family meeting. Funding support will bring families from all over the U.S. together for education from leading physicians and group activities for mothers led by medical, behavioral and psychiatric specialists they would otherwise not be able to access.For more information: www.wagr.org
LHON Project 
Grant support will create the Leber’s Hereditary Optic Neuropathy (LHON) Genealogy Project, designed to help families with a LHON genetic mutation identify and educate extended maternal relatives about this condition and the important goals of this project. A genetic genealogist and a genetic counselor will work with LHON families to find and educate maternal relatives, empowering them to de-mystify a potential diagnosis.  Case studies will be presented at conferences to increase the understanding of this process and to inspire other families to utilize similar resources to identify and educate extended maternal family members.For more information: www.LHON.org
Moebius Syndrome Foundation
The Foundation will use grant support to educate the community about and offer Oral Placement Therapy at the Moebius Syndrome Foundation Conference. Oral Placement Therapy will improve speech clarity and feeding safety (swallowing) for those living with Moebius Syndrome. Grant funding will allow two therapists to provide 45 minute evaluations at no cost to the attendees. During the evaluation, they will learn about muscle-based activities that can be used by both therapists and parents to improve verbal communications and feeding safety. Findings will be shared with the community to advance understanding of the disease and outcomes from Oral Placement Therapy for the community.For more information: www.moebiussyndrome.org
National PKU News
Grant support will expand the online diet-management tool, HowMuchPhe.org, to assist families of children with Phenylketonuria (PKU) to better manage their children’s diets and overall health. PKU patients have to rigorously restrict and record their protein intake. When families are first learning about the PKU diet, and when children are beginning to manage their own diets, tools to efficiently record and review their intake are critical. A core user group will assist with designing and testing these features, which will make a significant impact in the daily life of those managing the PKU diet via HowMuchPhe.org.For more information: www.howmuchphe.org
NGLY1 Foundation
This grant will support 40 families who have children living with CDG, a group of 50 ultra-rare genetic disorders related to glycosylation, allowing them to attend the Congenital Disorders of Glycosylation (CDGs) Family Conference. This program is a collaboration with CDG CARE and Sanford Burnham Prebys Medical Discovery Institute and will give these families access to 16 expert clinical, investigational, therapeutic and community experts from across the country. Families will be able to take part in a “Doctor Is In” session in which they speak with research and medical specialists about their specific needs. Within this ultra-small community of 150 diagnosed, families will connect and share strategies for overcoming isolation and significant barriers to medical information. The program will serve as a model for collaborating with foundations and medical institutions.For more information: www.ngly1.org
Pachyonychia Congenita Project
Grant support will implement A Peer Coaches Project and train up to 12 individuals to provide support to Pachyonychia Congenita (PC) patients and family members. Those who suffer with PC have the burden of chronic pain as well as the challenge of isolation that is associated with ultra-rare disorders. The Peer Coaches will be highly motivated and enthusiastic individuals, with a good understanding of PC, a positive attitude in managing their disorder on a daily basis, and the ability to listen to and connect with others.  Case studies generated will help other disease communities implement similar training support programs that benefit their communities.For more information: www.pachyonychia.org
Usher Syndrome Coalition
This funded project will create a scholarship program enable patient advocates to attend the 8th Annual Usher Syndrome Family Conference. Usher syndrome is a rare, genetic, progressive disorder and is the most common cause of combined deafness and blindness. By structuring a conference that offers interpreters, assisted listening devices, braille materials and live captioning, it will offer patients access to vital information they would otherwise struggle to receive, including greater understanding of current research advancements. The conference creates an atmosphere that fosters connection with others affected by Usher syndrome and that opportunity to engage directly with researchers. The project will offer a case study on effectively engaging a patient community with significant physical and medical challenges.For more information: www.usher-syndrome.org