| | Message from the President Welcome to our first online newsletter! We are excited to share this new format with you and hope you find it informative and easy to navigate. If not, let us know; your feedback will help us improve. We are moving the newsletter from print to online for several reasons: It will be easier to link to data, we’ll save expensive printing costs and we’ll be able to publish faster. As many of you know, it’s a challenging financial time for nonprofits with the pandemic, and we want to make sure every dollar continues to be spent wisely. To that end, we intend to invest more heavily in family support. After the enormous positive response to our first virtual webinar in April on “Living with NBIA during the COVID-19 Pandemic,” we realized there was an unmet need for families to connect and learn together while social distancing. We will be offering more virtual programs, such as webinars on topics important to our families and social meetings where families can share and support each other. Our international family conference will be held virtually next spring. We will soon be sending a survey to our NBIA families to guide us on the programs you want to see us offer. Together we will weather this storm. I look forward to brighter days ahead. |
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|  | Steve and Kristi Florio from Boalsburg, Pa., rode their bikes at Penn State University as part of the virtual MDBR. Their daughter Lia has BPAN and enjoyed riding along with her father. |
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| Team NBIA Disorders reaches $30,000 goal for MDBR Team NBIA did it again! For the fourth consecutive year, the NBIA Disorders Association successfully met the goal set by the Million Dollar Bike Ride and will have $30,000 matched, dollar for dollar, by the University of Pennsylvania’s Orphan Disease Center. The team’s efforts will result in a $60,000 grant for BPAN research to be awarded later this year. BPAN, which stands for Beta-propeller protein-associated neurodegeneration, has emerged as the most common NBIA disorder. The Million Dollar Bike Ride has been a big source of support for BPAN research, a priority of the NBIA Disorders Association, bringing in $130,000 in matching money alone from UPenn over the past three years. With this match, the BPAN grants will exceed $320,000. READ MORE |
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| | NBIA Disorders Association awards $45,000 for FAHN research in March The NBIA Disorders Association has awarded a $45,000 research grant to a team of German scientists studying stem cells in patients with the NBIA disorder known as FAHN. Led by Dr. Andreas Hermann, along with Drs. Moritz Frech and Jiankai Luo of the University Medical Center Rostock, the team will create a model of FAHN, or Fatty Acid Hydroxylase-associated Neurodegeneration, in the lab, along with stem cells to better understand how the disease works. With that understanding, the researchers can advance to testing potential therapies to see whether they can reverse FAHN’s effects. READ MORE |
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 | Drs. Jiankai Luo, Moritz Frech and Andreas Hermann from the University Medical Center Rostock in Germany, receive $45,000 grant to study FAHN. |
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| | Board of Trustees welcomes 2 members filling the shoes of 2 departing trustees The NBIA Disorders Association recently added two trustees, while saying goodbye to two others, Katie Kadamus of Worcester, Massachusetts and Pamela Craft of Cranberry Township, Pennsylvania. In February 2020, Stephanie Zhadkevich of Phoenixville, Pennsylvania, came on board, and in March, Dr. James Bourgeois of Georgetown, Texas joined. The two bring expertise in medicine, clinical research, leadership and more to the 11-member board. Zhadkevich is the associate director of financial planning and analysis at Novocure, a global oncology company in Phoenixville. She was introduced to the association through friend and current board member, Kimberly Burke, and says she was immediately fascinated by the organization’s work. Her educational background is in the medical sciences, and she has a longstanding interest in learning about new therapies to treat neurological disorders. READ MORE |
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| | 2019 Million Dollar Bike Ride supporting BPAN stem cell project Thanks to money raised in last year’s Million Dollar Bike Ride, the NBIA Disorders Association is supporting a stem cell research project in Australia that will examine BPAN’s effects on the brain and drugs that could help treat the disorder. Dr. Paul Lockhart of Murdoch Children’s Research Institute (MCRI) in Melbourne is leading the project and received a grant in February for $60,561 from the bike ride’s sponsoring organization, the University of Pennsylvania. Of that total, the NBIA community raised $30,561 and won the maximum match of $30,000 from the school’s Orphan Disease Center to study Beta-propeller Protein-Associated Neurodegeneration (BPAN). READ MORE |
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| | Living with NBIA during a pandemic By Vanessa Van Oost Rare diseases, such as NBIA, always present unique challenges for families. During this COVID-19 pandemic, those challenges are amplified, leaving some families feeling anxious and worried for their loved ones. To help families cope during this unprecedented time, the NBIA Disorders Association hosted a webinar April 14 featuring a panel of leading NBIA experts and a speech therapist to provide guidance and answer questions. Panelists based at the Oregon Health & Science University were medical geneticist Dr. Susan Hayflick, neurologist Dr. Penelope Hogarth and genetics counselor Allison Gregory. Rounding out the panel was Katie Flores, a speech pathologist at Open Door Pediatric Therapy in Houston. READ MORE |
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| | NBIA families share their stories of separation, lost rituals during pandemic By Vanessa Van Oost Although the COVID-19 pandemic has raised many medical concerns for NBIA families, its impact is far-reaching, affecting their financial, social and emotional well-being. Some families can’t visit NBIA-affected loved ones who live in care facilities because of infection risks. Many NBIA individuals miss school and other daily routines that bring structure and quality to their lives, including physical therapy sessions. On top of those issues, some parents have had their professional lives upended. Jaymes Wichert, a 30-year-old with MPAN in Hudson, Ohio, couldn’t celebrate his birthday with his loved ones. His family had planned a large celebration for April 28 to mark his milestone 30th birthday, but it had to be canceled because of the care facility’s no-visitation policy during the pandemic. READ MORE |
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| | Goal met thanks to our generous donors The annual day of donating to various organizations and giving back to one’s community, GivingTuesday, generally occurs in November. But an extra day was added on May 5, #GivingTuesdayNow, in response to the COVID-19 pandemic, which created an unprecedented level of need for health organizations, small businesses and nonprofits. Our NBIA community is no exception. When the virus struck early this spring, planned fundraising events across the country came to a sudden halt. Family fundraising is a lifeline for NBIA Disorders Association, and when it became nonexistent, we knew #GivingTuesdayNow would help. Despite their own hardships, friends and family of those affected by NBIA Disorders came together and helped us exceed our fundraising goal of $10,000! In all, we received $10,200. During this extended time of uncertainty, we know there is one thing we can count on — our NBIA community. With heartfelt gratitude, we thank all of you for your generosity. |
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| Fundraisers since November bring in more than $44,000 By Cynthia Craig The pandemic presents a challenging time for nonprofit fundraising, with fun runs, golf tournaments and other popular events gone. But NBIA families and friends have embraced the challenge, with many supporting us in a variety of ways. The efforts of our families since November 2019 — before and after social distancing and lockdowns took effect — have raised $44,885 for the NBIA Disorders Association. Here’s a closer look at how they did it: READ MORE |
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| Gone from our sight, but never from our memories Gone from our touch, but never our hearts... January 2020 - April 2020 Radhika Goel July 11, 2000 – January 3, 2020 Liam Longo March 4, 2003 – January 11, 2020 Emily Spencer February 5, 1986 – February 9, 2020 Charles Ejiegbu October 21, 2009 – February 12, 2020 Jason Michael Townsend July 7, 1981 – April 29, 2020 |
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 | Do you shop at Amazon? If so, support NBIA Disorders Association with Amazon Smile, now available in the Amazon Mobile App! The NBIA Disorders Association will receive a donation with every purchase. Instructions for iPhone and Android phones can be found here. Shop and Give at the same time! |
| NBIA Disorders Association is grateful to its supporters for their generosity. We extend our deepest thanks to our donors who have contributed from November 2019 - May 2020. See our donors here! |
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| | SCIENTIFIC & MEDICAL ADVISORY BOARD Director – Susan Hayflick, M.D. Oregon Health & Science University - Portland, Oregon Penny Hogarth, M.D. Oregon Health & Science University - Portland, Oregon Suzanne Jackowski, Ph.D. St. Jude Children’s Research Hospital - Memphis, Tennessee Paul T Kotzbauer, M.D. Ph.D. Washington University School of Medicine - St. Louis, Missouri Arnold Strauss, M.D. Cincinnati Children’s Hospital Medical Center - Cincinnati, Ohio L. Amy Sun, M.D., Ph.D., MBA, FACP Luye Pharma - Princeton, New Jersey |
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Officers/Board of Trustees President - Patricia V. Wood - El Cajon, California Vice President – Mary Ann Roser - Austin, Texas Secretary – Mary Tapke - Cincinnati, Ohio Treasurer – Rick Tifone - Gibsonia, Pennsylvania Matthew Ritzman, Chair - Oakland, California Veronica Bonfiglio - Fremont, California Dr. James Bourgeois - Georgetown, Texas Erin Davis - Cincinnati, Ohio Amber Denton - Houston, Texas Sarah Doerr - Minneapolis, Minnesota Meg Tally Dyer - Chandler, Arizona Susan Laupola - Cincinnati, Ohio Stephanie Zhadkevich - Phoenixville, Pennsylvania |
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| Disclaimer The views expressed in the NBIA Disorders Association newsletter do not necessarily represent the views of the Board of Trustees or the Scientific & Medical Advisory Board. Check with your doctors before trying anything new. |
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Our Mission In our drive to find a cure for NBIA, we provide support to families, educate the public and accelerate research with collaborators from around the world. |
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| NBIA Disorders Association
2082 Monaco Ct. | El Cajon, California 92019
619-588-2315 | info@NBIAdisorders.org |
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