“This is a great day for the Connecticut rare disease community! The Connecticut RDAC coalition would like to thank Governor Lamont, Lt. Governor Susan Bysiewicz, the Connecticut General Assembly Public Health Committee, especially Committee Chair Representative Jonathan Steinberg and Ranking Member William Petit for all their support and hard work on this legislation,” said Lesley Bennett, National Organization for Rare Disorders (NORD) Connecticut Rare Action Network Volunteer Ambassador. “This RDAC will give patients, families, caregivers, health care providers, advocates, researchers, and other stakeholders an opportunity to make formal recommendations to state agencies and our legislature on ways to develop public policy and health care legislation that will improve the lives of those impacted by a rare disease in Connecticut.”

NORD established Project RDAC in 2020 to increase the number of RDACs across the country and help optimize existing RDACs. Including Connecticut, a total of 23 states have signed legislation into law creating a Rare Disease Advisory Council, with RDAC legislation being signed into law in nine states since the start of 2021 alone.

“Sincerest appreciation to the coalition of lawmakers, patients, caregivers, and other members of the rare disease community who worked together to establish a permanent Rare Disease Advisory Council here in Connecticut,” said Peter Saltonstall, NORD President and CEO. “NORD has its roots in this state – through our founder, Abbey Meyers, and our founding nearly four decades ago. It’s incredibly empowering that Connecticut will have a permanent RDAC to help give its residents a stronger voice in their government and provide further partnership opportunities.”

Any condition that affects fewer than 200,000 Americans is considered rare. There are more than 7,000 known rare diseases, affecting 25-30 million Americans across a broad spectrum of medical conditions.  People living with rare diseases face many challenges, including delays in obtaining an accurate diagnosis, finding a health care provider with expertise in their condition, and a lack of affordable access to therapies and medications used to treat rare diseases.

For more information on NORD’s Project RDAC, visit rarediseases.org/projectrdac. To learn more about NORD’s policy work, visit: bit.ly/Policy-Issues.

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About the National Organization for Rare Disorders (NORD)

The National Organization for Rare Disorders (NORD) is the leading independent advocacy organization representing all patients and families affected by rare diseases in the United States. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. Since then, the organization has led the way in voicing the needs of the rare disease community, driving supportive policies, furthering education, advancing medical research, and providing patient and family services for those who need them most. Together with over 300 disease-specific member organizations, more than 17,000 Rare Action Network advocates across all 50 states, and national and global partners, NORD delivers on its mission to improve the lives of those impacted by rare diseases. Visit rarediseases.org.

The post Connecticut Establishes a Permanent Rare Disease Advisory Council appeared first on NORD (National Organization for Rare Disorders).

Send a message to your representatives NOW telling them to support access to vital telehealth services. 

Recognizing how important access to telehealth services has been to millions of Americans during the COVID-19 pandemic, a bipartisan group of senators recently introduced a bill that would extend COVID-era expanded telehealth access for an additional two years after the COVID-19 public health emergency has ended, which is expected at some point during 2022. The bill, the Telehealth Extension and Evaluation Act, S. 3593, was introduced on February 7th by Senators Catherine Cortez Masto (D-NV) and Todd Young (R-IN).  

Expanded access to telehealth throughout the pandemic has been particularly beneficial to the estimated 25-30 million Americans living with rare diseases, reducing their risk of exposure to COVID-19 and helping them better manage their complex health conditions from the safety of home. For the past two years, in response to the clear call rare disease patients and families in our community surveys, NORD and advocates in our Rare Action Network (RAN) have worked together and in partnership with other patient groups to advocate to ensure telehealth is available to meet the needs of rare disease patients and their caregivers. 

NORD believes that effectively integrating telehealth into our health care system will lead to better outcomes for rare disease patients by reducing barriers care, shortening the time it takes to get an accurate diagnosis, and increasing access to providers with rare disease expertise. In support of these goals, we developed principles to help guide our telehealth policy efforts.  To date, many states and private insurance companies have already integrated aspects of telehealth into their plans and programs, yet there is more work to be done. If signed into law, the Telehealth Extension and Evaluation Act would prevent a sudden drop in coverage, particularly amongst Medicare beneficiaries, while we continue to advocate for legislation at the state and federal level.  

Another positive aspect of the Telehealth Extension and Evaluation Act is its requirement for robust data collection and analysis to help inform which policies currently in place should be made permanent. This includes an analysis of geographic data on the patients utilizing telehealth services and the location of their corresponding providers – something that is especially important to patients with rare diseases. Prior to the pandemic, a NORD survey found that nearly 40% of rare disease patients traveled more than 60 miles for their medical care. Getting better data on how telehealth is improving access to necessary care, even when it is across state lines, is particularly important for our policy efforts around ensuring patient access to health care providers practicing in a different state.  

The Telehealth Extension and Evaluation Act will help protect access to telehealth services and give policy makers the information they need to appropriately integrate telehealth into our health care system. Congress has the opportunity to make this Act law right now, by including it as part of the legislative package to fund the federal government. Contact your legislators NOW and encourage them to include the Telehealth Extension and Evaluation Act in the omnibus appropriations package.

Read more about telehealth.

The post New Senate Bill Would Extend Access to Telehealth After the COVID-19 Public Health Emergency Ends appeared first on NORD (National Organization for Rare Disorders).

Rare Disease Day is important to me because it is a celebration of my stripes as a rare disease patient and advocate. I am proud to have been through the battles I have faced with having a rare disease. I am also proud that I can hopefully one day help my patients with the battles they may face. 

One of the challenges I have continuously faced as a rare disease patient, especially this year, is that I rarely ever have a say regarding my medication therapy. I receive a therapy called immunoglobulin, which is sourced from plasma from healthy donors. Immunoglobulin is the only therapy those with PI can get that will keep us healthy and alive. Many others with a rare disease and I rarely get the choice of another therapy, which brings many adversities. First, the price of immunoglobulin is incredibly expensive and puts a lot of stress on my parents and myself. I worry about the day I will have to provide insurance for myself and the potential challenges that may come with receiving my medication.  

Second, those who rely on plasma-based therapies worry about access to their medications and possible shortages. Due to COVID-19, there has been a decrease in plasma donors. This is worrisome for patients that rely on plasma therapies to keep them healthy and alive, as it can take up to 1,000 donations to treat a patient with a rare disease.  

Finally, there is little support from health care professionals regarding the mental aspects of having a rare disease. This year, I was faced with having to receive my immunoglobulin therapy subcutaneously versus intravenously. This was incredibly hard for me because I loved receiving intravenous treatments and had been doing them this way since I was four years old. This change became necessary when my portacath had to be removed. My doctor felt that there was no other option, as my veins were not strong enough to be on life-long intravenous therapy and I had a high risk of developing a blood clot. The subcutaneous infusions have been incredibly painful, time-consuming and do not provide me with the same energy that intravenous infusions did. When I sought out help from my physicians, I received no support. It was a problem that was brushed off by the idea that maybe one day it would get better, and that I shouldn’t complain because the treatment works well for others that receive it. 

Health equity represents the social, economic and environmental conditions that affect a person’s health. Those with rare diseases are significantly impacted by heath equity in several ways such as diagnosis, access to treatment and appropriate patient care. Rare disease patients must fight for the proper diagnosis because most doctors refuse to look for the zebra. Patients with rare diseases worry about having access to expensive medications. Many patients may have to travel exceptionally long distances to find a health care provider that specializes in their disease type. Health care providers can discourage rare disease patients and provide little support or willingness to help, leaving patients feeling as if their battle with their disease is either insignificant or defines them. With increased advocacy and awareness, I hope that these struggles lessen. 

I am my school’s pharmacy pediatrics club president (Pharm.peDs). I was motivated to be Pharm.peDs president because it recognizes both the rare and pediatric communities. This is due to the strong link between pediatric and rare disease patients, as 50% of those affected by rare diseases are children. For Rare Disease Day 2021, the club is participating in many events to bring awareness to rare diseases with the help of NORD’s Rare Action Network Arizona volunteer state ambassador, Dr. Melinda Burnworth. I am excited to use my experience as a pediatric patient with a rare disease to bring awareness to both the school and rare community of zebras of the medical world, as well as the battles that they face. 

The post Ashlee’s Story in Honor of Rare Disease Day appeared first on NORD (National Organization for Rare Disorders).

• Quotes from Peter L. Saltonstall
• Information on the Show Your Stripes campaign and the Light Up for Rare initiative
• Listing and links to many of the 2021 Rare Action Network Rare Disease Day virtual events
• The upcoming Behind the Mystery Rare Disease Day special, featuring NORD’s Lisa Sarfaty, on Lifetime’s award-winning morning show The Balancing Act

The article can be read in its entirety here.

#NORDintheNews

The post NORD Featured in BioNews Service Article on Rare Disease Day Happenings appeared first on NORD (National Organization for Rare Disorders).

Launched by EURORDIS-Rare Diseases Europe in 2008, Rare Disease Day is the patient-led international awareness campaign that brings people together in solidarity with the 300 million patients impacted by rare diseases worldwide. In 2009, Rare Disease Day became a global event when NORD became the official sponsor of the celebration in the United States. 

This year, NORD is asking individuals, organizations and companies in the US to help highlight rare disease issues and the need for continued progress in research and drug development. Taking action and “showing your stripes” to spread awareness can be done in a variety of ways, including by:  

•  Joining the Show Your Stripes movement and wearing stripes on Rare Disease Day, taking a photograph and posting it with a message of support on social media, using the hashtags #ShowYourStripes and #RareDiseaseDay. Discover more ways to Show Your Stripes here (http://bit.ly/RDD21-Get-Involved). 
•  Advocating for more than 25 million Americans impacted by rare diseases through  participating in a NORD Rare Action Network (RAN) virtual Rare Disease Day event, in which key state policies affecting rare patients and families will be discussed. Register to take part in a RAN virtual Rare Disease Day event here (http://bit.ly/RDD21-Events). 
• Pledging to help our rare community light up as many buildings and landmarks as possible in Rare Disease Day colors (blue, green, pink and purple) on or around February 28. This concept originated in 2019 when the Empire State Building in New York City was striped in Rare Disease Day colors thanks to the work of RocketPharma, a member of NORD’s Corporate Council. Find out more about NORD’s Light up for Rare (https://bit.ly/Light-Up-For-Rare) campaign and how you can participate. 
•  Watching Behind the Mystery: Rare and Genetic, the recurring rare disease series on the award-winning morning show The Balancing Act, airing on Lifetime Television. Premiering February 24 at 7:30am ET then streaming online at TheBalancingAct.com/Rare, the Rare Disease Day Special will feature NORD’s Lisa Sarfaty presenting facts on rare disease and how to get involved with the awareness day, and three patients sharing their inspiring stories: William Yank, a three-time leukemia survivor with his own podcast, clothing line and over 90,000 followers on TikTok; Kelly Barendt, a blogger and YouTuber with over 300,000 TikTok followers, relating her journey with Friedreich’s ataxia; and Travis Flores, a cystic fibrosis survivor and recipient of a very rare third double-lung transplant, sharing what he has learned from living with his condition.  

 “Rare Disease Day is an opportunity to enlighten the public about issues affecting rare disease patients such as overcoming health inequities – including the lack of understanding around rare conditions and challenges patients must face to even get an accurate diagnosis,” said Peter L. Saltonstall, President and CEO of NORD. “NORD’s mission is to ensure that all rare diseases have an accessible treatment or cure. Only then will our community have the equity it deserves.”  

For more information on #ShowYourStripes, to download materials including a social media toolkit, media outreach templates, infographics and printable stickers, and to stay abreast of Rare Disease Day virtual events in the United States, be sure to visit rarediseaseday.us. 
 

The post How Will You Show Your Stripes in 30 Days? Join NORD in Spreading Awareness for Rare Disease Day®, February 28 appeared first on NORD (National Organization for Rare Disorders).