On May 19, on one of the rare disease community’s biggest nights, we will honor the patients, leaders and innovators who are moving the community forward at NORD’s annual Portraits of Courage Gala in Washington, D.C. More than 500 guests are expected to attend. Register here.
The 2015 honorees include:
Abbey S. Meyers Leadership Award
The International Pemphigus & Pemphigoid Foundation
Industry Innovation Award
BioMarin Pharmaceutical Inc. – Vimizim (Mucopolysaccharidosis Type IVA, also known as Morquio A Syndrome)
BOEHRINGER-INGELHEIM Corporation USA – Ofev (Idiopathic Pulmonary Fibrosis)
Genzyme Corporation – Cerdelga (Gaucher Disease Type I)
Lundbeck – Northera (Neurogenic Orthostatic Hypotension)
Novartis Pharmaceuticals – Zykadia (Anaplastic Lymphoma Kinase-Positive Metastatic Non-Small Cell Lung Cancer)
Vanda Pharmaceuticals Inc. – Hetlioz (Non-24-Hour Sleep-Wake Disorder)
Lifetime Achievement Award
Francis S. Collins, M.D., Ph.D. – Director, National Institutes of Health
National Health Leadership Award
The Honorable Lamar Alexander (TN), U.S. Senate
The Honorable Robert Casey, Jr. (PA) U.S. Senate
Portraits of Courage Honorees
Devin Alvarez (Sprengel’s Deformity)
Emily Argersinger (Sturge-Weber Syndrome)
Laura Crandall (Sudden Unexplained Death in Childhood)
Anthony Ferrandino (Batten Disease)
Bailey Gribben (Neurofibromatosis)
Sophia Hanson (Lymphedema Praecox)
Savannah Hollis (Cavernous Angioma)
Glenn and Cara O’Neill (Sanfilippo Syndrome Type A)
Yusuf Patel (Methyl Melonic Acidemia)
Lori Sames (Giant Axonal Neuropathy)
Rare Disease Public Awareness Award
Cindy Abbott (Wegener’s Granulomatosis)
Margaret A. Hamburg, M.D. – Former Commissioner, Food and Drug Administration
In addition to a cocktail reception, silent auction and seated dinner, the 2015 Portraits of Courage Gala will feature a post-event champagne and dessert celebration and musical performance by singer-songwriter Sonia Lee.
This is NORD’s biggest fundraising event of the year and all proceeds support our mission of providing education, advocacy, patient support and research for the 30 million Americans with rare diseases.
To learn more, register for tickets, or for sponsorship opportunities, please visit http://www.rarediseases.org/news-events/gala-2015. See you there!
A few members of the community have brought a social media conversation to our attention that inaccurately describes NORD’s involvement in state-based Rare Disease Advisory Councils. Because the issues of state advocacy and collaboration are so important, we would like to set the facts straight.
Rare Diseases United Foundation (RDUF) did approach NORD to support legislation to be introduced in several states establishing these councils, similar to the legislation referenced in Connecticut. We reviewed the legislation with the support of our members, at which time it was determined that without certain revisions we could not in good faith promote the legislation.
After receiving phone calls and emails from our members on this issue, we contacted RDUF in February expressing interest to support this effort and to communicate our concerns over a few of the common provisions that appeared in all of the state bills. The changes we proposed would prioritize increased patient and organizational membership on the councils, and coordination with other state and federal efforts. Those changes were declined by RDUF.
NORD was then approached by a representative at our Connecticut State House Event for support and input on H.R. 6580, which the representative had drafted and modeled after the Massachusetts and Rhode Island state bills without our consultation. We, along with several advocates, reviewed the bill and met with the representative to propose changes, which included:
1. Remove NORD from the Council and to instead include up to 3 representatives from patient-based organizations operating within the state
2. Improve representation on the Council:
a) Increase physician participation to 10 representatives, and include the following specialties: gastroenterologist, psychologist, pediatrics, metabolic specialists, and genetics
b) Increase both rare disease survivor and caregiver participation to 2 representatives, one of which would include a pediatric caregiver
c) Include a representative from the State Newborn Screening Program
d) Include a representative from the State Department of Education
The proposed changes did not include a request for government funding, but rather stated that the Advisory Council should be allowed “to apply for and accept any grant of money from the federal government, private foundations, or other sources which may be available for its operation and State programs related to rare diseases.”
We do not support naming any specific organization(s) in these bills because we believe that is inappropriate for any legislation intended to benefit the entire rare disease community. The Council should be as inclusive as possible. As well, representation is best suited for those living in and managing the day-to-day care of rare disease patients in the given state.
We are happy to share our proposed changes with any interested advocates. Additionally, since the bill is still in committee, the representative’s office has indicated that the public still has the opportunity to submit other changes that would improve the legislation. (Please Note: the current version of the bill available online does not reflect changes proposed by NORD and other rare disease advocates. The changes are currently being reviewed by the Public Health Committee and Connecticut Department of Health.)
Our team is made up of dedicated and compassionate patients, parents and advocates. We are in the fight against rare diseases alongside you fighting for all 30 million Americans – including the ones we love and have lost.
Crowdfunding is a way of raising money to fund a specific project or fulfil a specific goal in a relatively short amount of time. It involves asking a large number of people for a small contribution to the project. The method is not just about getting money- it is about developing support from a crowd of people who believe in your cause.
We believe this method of fundraising is especially important, as rare diseases are often unknown, and little understood by the wider public. More crucial than raising funds, is raising awareness. Crowdfunding offers you an opportunity to do both at once through the online crowdfunding platform you choose, social media, and the personal networks brought to you by your crowd.
What is Black Bone Disease?
Black Bone Disease was the first genetic disease ever identified over 100 years ago, and yet it still has no licenced treatment. It is incredibly rare, with fewer than 100 patients in the UK, and around 1000 cases diagnosed worldwide.
Thanks to the genetic defect, an enzyme usually present in the body cannot be produced. This causes the build-up of a harmful acid in the body, which attacks bones and other tissue, turning them black and brittle. This results in severe joint damage and a risk of heart disease.
The AKU Society is a charity working to support patients with the disease. As a patient group we work closely with patients to provide them with support, and information. Our goal is to improve the level of care experienced by patients, and to drive research to find an effective treatment.
In 2013 we launched our first clinical trial, raising over $100,000 to support the launch of an international clinical trial. This trial is now underway, and is testing a promising drug called nitisinone. If given at the correct age, this drug has the potential to prevent all of the debilitating effects of Black Bone Disease.
However, we still have something we need to find out. What is the best age to give this drug? Given too early in life and the drug could potentially cause side effects harmful in growing children. Given too late and the debilitating damage caused by Black Bone Disease will already have set in. To find the optimum age to treat patients, we need to undertake some new research.
Our researchers will study the progression of Black Bone Disease by comparing patients from a range of different age groups. They will test how patients walk using gait analysis, and will also collect blood, urine and cartilage samples.
To support the research, we are launching a crowdfunding campaign to raise money and awareness. read more >
The final 2015 State House Event took place yesterday. Now that all of the numbers are in, take a look at (and share!) this year’s highlight reel & recap:Together, we planned and hosted 32 State House Events in capitol buildings across the U.S., up from last year’s 12 State House Events
With all of our efforts, Rare Disease Day continues to grow! Thank you to everyone who planned and attended events, joined the social media campaign, changed their profile photos, shared infographics, and got involved. As the official U.S. sponsor of Rare Disease Day, NORD thanks everyone who came together to support this truly community and group effort. Together, we are strong!
Keep the Momentum Going read more >
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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