2017 RARE Patient Impact Grant Awardees
February 19, 2017
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 patient and caregivers’ lives.
To learn more about the RARE Impact Grant Program, click here.
2017 RARE Patient Impact Grant Awardees
AMEN Support: Empowering Patients through MEN Education
AMEN Support (American Multiple Endocrine Neoplasia Support) was developed as an initiative of The Hageman Foundation to help increase awareness about the disease and its treatment through educational seminars. Since 2007, our mission has been to provide education and support to patients, their families, and medical personnel dealing with Multiple Endocrine Neoplasia (MEN). We are the first patient advocacy support group developed in America to help increase awareness about the different types of MEN and its treatments.
This funding will provide program participants at our 2017 seminars (scheduled for February, September, and October) with key educational resources on this rare disease and its symptoms.
1) Comprehensive Guide on Neuroendocrine Tumors (NET): This manual will serve as a vital connector to the presentations on diagnosis and management given at the MEN Patient Education & Empowerment seminars by the nation’s leading neuroendocrine physicians.
2) AMEN Support Educational Print Materials: This information will be distributed to patients, caregivers, and physicians to help increase awareness of MEN.
Bohring-Opitz Syndrome Foundation, Inc.: 2017 BOS Meet Up
Bohring-Opitz Syndrome (BOS), an extremely rare genetic syndrome with fewer than 70 cases worldwide, was first named in 1999. The BOS Foundation was founded in 2015 by parents of children with BOS; it is a 501(c)3 nonprofit organization dedicated to improving the lives of people affected by BOS.
This funding will be used to implement the 2017 BOS Meet Up which supports the BOS Foundation’s goals of increasing community support through teaching and sharing knowledge. This event will be our 2nd annual meeting which is to be held the last weekend of July 2017 in the Tri-State (east coast US) area. In 2016, fourteen patients and their families attended the BOS Meet Up, and we anticipate over twenty patients and their families to attend in 2017. For many families living with this extremely rare syndrome this provides an opportunity to meet for the first time! This casual meet-up is intended to be a safe place for the exchange of information and ideas to provide the best care of children and adults with BOS. We hope the children and their families will make new friends and celebrate our shared journey.
CureDuchenne: Durable Medical Equipment Guide (aka DME Guide)
CureDuchenne’s mission is its name, to cure Duchenne muscular dystrophy. Since its founding in 2003, CureDuchenne has developed a multidimensional approach to finding and developing potential cures and treatments for Duchenne. CureDuchenne has helped advance nine research projects to human clinical trials.
The Durable Medical Equipment Guide (aka DME Guide) will be an educational resource for parents, caregivers and family members who have loved ones with Duchenne muscular dystrophy. This comprehensive resource will complement the already established CureDuchenne Cares Program, expanding upon its durable medical equipment session.
PKD Foundation: ARPKD Patient and Caregiver Handbook
PKD Foundation’s mission is to empower parents, families and caregivers of young children diagnosed with autosomal recessive polycystic kidney disease (ARPKD) to manage their child’s health. The PKD Foundation recognizes the need for better education about this potentially life-threatening disease requiring immediate medical attention upon diagnosis. This funding will cover a portion of the cost for an ARPKD patient and caregiver handbook. The handbook will be developed with assistance from experts in the field including specific members of the PKD Foundation’s Scientific Advisory Committee. It will be a valuable resource to parents whose child has been diagnosed with ARPKD in-utero or immediately after birth in addition to those who are caring for a child with ARPKD.
The PKD Foundation has been committed to discovering treatments and a cure for polycystic kidney disease (PKD). The PKD Foundation is the only organization in the U.S. solely dedicated to improving the lives of those affected by PKD. We do this through promoting research, education, advocacy, support and awareness on a national level, along with direct education and support services to more than 60 local communities across the country.
Alport Syndrome Foundation: Ask the Experts Webinar Series
The Alport Syndrome Foundation (ASF) is the leading independent non-profit organization in the US educating and giving a voice to the Alport Syndrome community. ASF’s mission is to improve the lives of those affected by Alport Syndrome through education, empowerment, advocacy, and research.
The goal of the “Ask the Experts” Program is to make a tangible difference in Alport Syndrome patients and caregivers’ lives by empowering them with both a better understanding of Alport Syndrome and tools to better manage the condition physically and psychologically. Each of twelve one-hour monthly webinars will feature an expert who provides an overview of their topic followed by a question and answer period.
SBS Cure Project: Medical or Education Travel Grant
The SBS Cure Project is a 501(c)3 non-profit organization that is designed to find ways to improve the lives and available medical options for those with Short Bowel Syndrome and Intestinal Failure. The SBS Cure Project’s and our mission is to seek new treatments and cures for Short Bowel Syndrome and Intestinal Failure while promoting awareness and strengthening our community.
Because this condition is so rare, many consumers do not have access to a medical facility or personnel who are specialists in this form of care, which can cause many medical complications and problems. To counter these problems, SBS Cure Project is able to offer travel grants for a patient who, for example, needs a catheter or catheter replacement and does not have access to a specialty medical center in their area in which to have a safe, quality procedure. Because SBS Cure Project also believes that an educated consumer increases their chances of being a healthier consumer, we will be able to offer travel grants for a consumer and/or caregiver to attend an educational forum that will enhance their knowledge and help have as healthy a life as possible on TPN.
The Marfan Foundation: Conference Scholarship Program
The Marfan Foundation, founded in 1981, is the only national not-for-profit health organization that supports people with Marfan syndrome and related connective tissue disorders. The Marfan Foundation creates a brighter future for everyone living with these conditions. We pursue and fund the most innovative, life-saving, and life-changing research. We support individuals, family members, and medical professionals through our Help & Resource Center – staffed by a registered nurse and a licensed social worker – where they can receive the most up-to-date information about Marfan and related disorders. We continue to broaden our outreach efforts to inform the public and educate the patient and medical communities to increase early diagnosis, ensure life-saving treatments, and improve the quality of life of those with Marfan syndrome and related disorders. We will not rest until we’ve achieved victory – a world in which everyone with Marfan syndrome or a related disorder receives a proper diagnosis, gets the necessary treatment, and lives a long and full life..
The Foundation’s Annual Conference is a four-day event that brings together hundreds of patients, their families, and medical professionals to provide the latest medical information about Marfan syndrome and related disorders. While the Conference as a whole helps create connections and provides life-changing information and support, the most critical aspects of the Annual Conference are the patient health evaluations. These evaluations, which are free of charge, take place during the first two days of Conference and will include appointments to evaluate patients and the different body systems that can be affected including the heart, eyes, lungs, and skeletal system. For many patients, these evaluations may be the one time each year that they are receiving proper care and management, due to a lack of medical insurance or lack of knowledgeable doctors in their area. With the help of this grant, we will be able to offer more scholarships for patients to attend our conference and receive these important medical evaluations.
Platelet Disorder Support Association: ITP Community Network
Platelet Disorder Support Association (PDSA) is a patient advocacy non-profit organization and serves as a beacon of hope for tens of thousands of individuals and families in more than 130 countries through our educational and support services and programs for patients with Immune Thrombocytopenia.
With help from the Global Genes RARE Patient Impact Grant, we will be able to establish more teleconference support groups and enhance our parent teleconference using WebEx software. Purchasing WebEx for 2017 means more patients could participate on a call with ease, and PDSA could begin hosting informational webinars by ITP medical experts that are more accessible to our member population.
Cardio-Facio-Cutaneous International: A Day of Caring at the CFC International Family Conference
Cardio-Facio-Cutaneous (CFC) International is an advocacy organization for persons and families dealing with Cardio-Facio-Cutaneous Syndrome. Our mission is to improve the quality of life through family support, research, and education. We act as a clearinghouse of information on all aspects of CFC Syndrome.
For the first time, we have a special day dedicated to the caring of the families. The Global Genes RARE Patient Impact Grant will allow us to offer many new social events where parents, CFC individuals and siblings can get to know each other in a more relaxed atmosphere, bringing them a joyful day together.
Fibrous Dysplasia Foundation: Expanding Access to the FDF Patient & Family Conference via Livestream
The Fibrous Dysplasia Foundation serves people with fibrous dysplasia and McCune-Albright syndrome (FD/MAS), as well as other related rare bone diseases like cherubism, by supporting scientific research, developing support networks, linking patients and doctors, and developing resources for patients, clinicians and researchers.
The RARE Patient Impact Grant will fund equipment that will help take advantage of Facebook to offer the option of free digital attendance to their October 2017 Patient and Family Conference. Digital attendance will include access to stable, live video of all conference sessions. Like in-person attendees, digital attendees will be able to attend conference presentations, and submit questions to presenters to be answered during question and answer periods. During meal breaks and small group discussion sessions at the conference, digital attendees can jump into virtual breakrooms (webcam and call-in enabled online chatrooms) with other digital attendees so that they too can discuss what they have learned, what is on their minds, or their ideas and hopes for the future.
Cure Sanfilippo Foundation: Development of Global Clinical Guidelines for Sanfilippo Syndrome
Cure Sanfilippo Foundation is a 501(c)3 non-profit, founded in 2013. Our mission is to advocate for and fund research directed towards a cure or treatment options for children with Sanfilippo Syndrome (MPS III).
Best practice guidelines for clinical management are critical for both patients and health care professionals in the management of rare diseases where scarcity of expertise is a well-known and far too common cause of late or incorrect diagnosis and care. Such guidelines allow physicians and other health care professionals to make recommendations based on best available evidence, improve consistency of diagnosis and clinical management across treatment centers, and enable affected families to make informed decisions regarding treatment. With the funding from the Global Genes RARE Patient Impact Grant, we will be able to investigate and develop global clinical guidelines for Sanfilippo Syndrome.
Global Foundation for Peroxisomal Disorders: Zellweger Spectrum Disorder Focus Group Project
The mission of the Global Foundation for Peroxisomal Disorders (GFPD) is to fund and promote peroxisome disorder research and to assist families and professionals through educational programs and support services related to Zellweger Spectrum Disorder (ZSD).
The Zellweger Spectrum Disorder Focus Group Project is a pilot study that will form the foundation for research studies addressing the unmet medical, health, and nutritional needs of children with ZSD. Using a qualitative approach, the study will focus on identifying unmet needs in the health management of ZSD, as well as the different factors that may influence a caregiver’s overall sense of self-efficacy in managing their child’s healthcare needs. By exploring and understanding the perceived concerns, barriers, and facilitators from a caregiver’s unique perspective, the study will generate knowledge that will further and enhance understanding of this complex, under-researched area, and form the basis for better health and nutritional management of children diagnosed with ZSD.
Angioma Alliance: New Mexico CCM Patient Engagement Project
Founded in 2002, Angioma Alliance is the only organization in the United States representing those with cerebral cavernous angioma, also known as cavernoma cavernous malformation (CCM). The mission of Angioma Alliance is to inform, support, and empower individuals affected by cavernous angioma and drive research for better treatments and a cure.
The mission of the New Mexico Engagement Project is to foster a mutually supportive community in the under-served Hispanic population at risk for CCM, thereby reducing stigma and fear, and increasing the likelihood for medical and research engagement. With the funding from the Global Genes RARE Patient Impact Grant, we will be able to find affected families by researching the CHM family tree in order to outreach and move forward.
The Brain Recovery Project: Frog Hand
The Brain Recovery Project works with families impacted by hemispherectomy surgery – a drastic procedure where half the cerebral cortex is removed in a final attempt to stop catastrophic epilepsy. Our mission is simple – we help families navigate hemispherectomy surgery and its impact throughout the lifespan by serving as the preeminent source for research-based information, support and programs.
Frog Hand is a 3-D printed glove that would allow its user to voluntarily open the affected hand upon extension of the elbow. Once the project is completed, parents will be able to measure their child’s arm, download the design, the bill of materials and assembly instructions from our website to build the Frog Hand themselves.
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