Meet the Partners: Terri Ellsworth

 

Terri Ellsworth is a seasoned and proactive advocate/activist from Pittsburgh, Pennsylvania and is devoted to raising awareness for Duchenne muscular dystrophy and all rare disease.

 She has one child, her son Billy, 21 years old, with Duchenne, the most lethal genetic childhood disease. Terri and Billy were frontline advocates for approval for the first drug ever to receive FDA approval for muscular dystrophy. Billy was one of 12 boys in the United States and the only boy in Pennsylvania to trial his treatment for 5 1/2 years before receiving FDA approval in September 2016. Billy is still fully ambulatory, independent, and self-sufficient thanks to his weekly infusion treatment of Eteplirsen, now Exondys51. They both testified to the FDA on behalf of Billy's drug treatment. He has been a trailblazer for medical science and innovation and continues to defy his disease.

Terri was a committee member, Biomarkers 2, for the first ever FDA Duchenne Draft Guidance in 2014. She also served as a Community Advisory Board Member for this same guidance. She has reviewed extensive IRB consents and has participated as a community member for observation at local IRB committee meetings.

She is an RDLA Rare Disease Legislative Advocate and advocates on Capitol Hill for legislation for rare disease patients. Terri also serves as mentor and support for newly diagnosed families both domestically and abroad. She has a respected and credible name and voice in the rare disease community and is often requested to speak to various audiences which have included University of Pittsburgh's Medical School, graduate students in the Genetic Counselors Program,  and MDA events to name a few. Terri and Billy were also requested to speak and present an Innovation Award at NORD's gala event in Washington, DC to the CEO of Sarepta Therapeutics. They were also invited to Perth, Western Australia in 2017 and 2019, where Billy's drug treatment was developed. While there, they met and spoke with dignitaries, scientists, and academia.

Terri also serves as a Citizen Scientist for OneFlorida Clinical Research Consortium at  University of Florida and is also a RUGD Ambassador (Rare and Undiagnosed Genetic Disease) for Illumina Biotech. She is also a PALS Ambassador (Patient Airlift Services).

In addition to Terri's full time advocacy work and volunteering endeavors, she is a very seasoned Interior Designer specializing in kitchens and baths and has studied at University of Pittsburgh.

Terri also does consulting work for biotech/pharmaceutical companies.   You can download her CV by clicking here.

Rare Disease Day

Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families.^{[1][2][3][4][5][6]} The European Organisation for Rare Diseases established the day in 2008 to raise awareness for unknown or overlooked illnesses. According to that organization, treatment for many rare diseases is insufficient, as are the social networks to support individuals with rare diseases and their families;^[7] furthermore, while there were already numerous days dedicated to sufferers of individual diseases (such as AIDS, cancer, etc.), there had previously not been a day for representing sufferers of rare diseases.^[4] In 2009 Rare Disease Day went global as the National Organization for Rare Disorders mobilized 200 rare disease patient advocacy organizations in the United States while organizations in China, Australia, Taiwan, and Latin America also lead efforts in their respective countries to coordinate activities and promote the day.^[3]

The first Rare Disease Day was coordinated by the European Organisation for Rare Diseases (EURORDIS) and held on February 29, 2008 in numerous European nations and in Canada through the Canadian Organization for Rare Disorders.^{[1][4][8][9][10]} The date was chosen because February 29 is a "rare day,"^[11] and 2008 was the 25th anniversary of the passing of the Orphan Drug Act in the United States.^[7]

Individuals observing Rare Disease Day took part in walks and press conferences to raise public awareness of rare diseases, organized fundraisers, and wrote en masse to government representatives;^[9] health-related non-profit organizations across numerous countries also held events, gatherings, and campaigns.^[12] The day also included an open session of the European

 Parliament specifically dedicated to discussing policy issues relating to rare diseases.^[8] The days leading up to Rare Disease Day included other policy-related events in numerous locations, such as a reception in the British Parliament where policymakers met with individuals with rare diseases to discuss issues such as "equal access and availability of prevention, diagnosis, treatment and rehabilitation."^[13]

In 2009, Rare Disease Day was observed for the first time in Panama, Colombia, Argentina, Australia, Serbia,^[14] Russia,^[15] the People's Republic of China, and the United States.^[16] In the United States, the National Organization for Rare Disorders signed on to coordinate Rare Disease Day and collaborated with The Discovery Channel and the show Mystery Diagnosis,^[17] as well about 180 other partners,^[17][18] to organize activities across the country for the observance of Rare Disease Day.^{[2][10][16][19][20]} Several United States state governments issued proclamations regarding Rare Disease Day.^[21] In Europe, over 600 patient advocacy and support organizations, again coordinated by EURORDIS, also planned events.^[16][22]

In 2010, 46 countries participated.^[23] Latvia, Lithuania, Slovenia, Georgia, and three African countries joined the event for the first time. In 2011, 46 countries participated in the event.^[24] By 2012, thousands of patient advocacy organizations had gotten involved, including more than 600 partners working with NORD in the US to promote Rare Disease Day.^[25]

By 2014, 84 countries were participating, with over four hundred events worldwide. Nine new countries participated in 2014; Cuba, Ecuador, Egypt, Guinea, Jordan, Kazakhstan, Kenya, Oman, and Paraguay.^[26] In 2018, Cape Verde, Ghana, Syria, Togo, and Trinidad and Tobago participated for the first time, with 80 nations participating in that year's events.^[27]

Source:  Rare Disease Day - Wikipedia

Meet the Partners: Dawn Ireland

 

Dawn Ireland is the President and Founder of CDH International US and leads NGOs for the organization in Canada, the United Kingdom, Singapore, the Netherlands, Hong Kong, and Switzerland.

She is also a founding member of the Surgical Anomalies Research Alliance (SARA), the Worldwide Rare Advocacy Partnership (WRAP), Rare Advocacy Movement (RAM), the Alliance of Congenital Diaphragmatic Hernia Organizations (ACDHO), a public speaker, and active in the rare disease world as a patient advocate and patient registry expert.

Dawn founded the world's largest charity for Congenital Diaphragmatic Hernia in 1995 as a grassroots organization and led it to be the most successful NPO of its kind. Through her leadership, CDH International has helped over 7000 families in 84 countries, found a voice on Capitol Hill, raised awareness on national media, created relationships with hospitals and celebrities, pushed for more funding through NIH, created and funded support services and information for families, bought together with the global CDH community, published medical data and raised over $2 million. Currently, she is a member of many pediatric surgery associations and is working with the World Health Organization to help create global standards of care for structural birth defects.

She has also laid the foundation for and/or assisted with creating 11 other CDH charities and 4 charity alliances. In addition, she is on committees at NICHD, the Global Initiative for Children's Surgery, and the G4 Alliance.

She is a member of Global Genes, NORD, EURORDIS, the G4 Alliance, the UN Civil Society Team, Rare Diseases International, Genetic Alliance UK, CORD, ELSO, WOFAPS, and many other associations for rare diseases and pediatric surgery. She has a keen interest in ensuring that all children in LMICs receive surgical care.

A Point of Light Presidential Award Winner, Dawn has been repeatedly nominated for many awards for her dedication and hard work in the fight against Congenital Diaphragmatic Hernia.

Dawn is honored to mentor many other cause charities, and she was the first charity leader to set up a 3-prong cause agenda of research, awareness, and support 25 years ago.

In addition to her non-profit work, Dawn is also a paid industry Consultant on Patient Advocacy specializing in navigating the patient landscape and building collaborations between stakeholders. She is also a paid Inspirational Speaker sharing her experiences overcoming tragedies and obstacles to build the world's largest and leading charity for Congenital Diaphragmatic Hernia.

On the personal side, Dawn was the patient advocate for her son, Shane, born with Congenital Diaphragmatic Hernia. He survived for 6 and a half years, during which she gave medical care and advocated for better medical care for her very disabled child. For over 2 years, Shane was on a ventilator and oxygen. He had a feeding tube/button and was blind and deaf for most of his life. He never spoke.

She continues to work to save other children like Shane.

Meet the Partners: Caryl Harris

Caryl Harris co-founded Avery's Hope with her husband, Eric. Named for their beautiful, and beautifully rare, grandson. Avery's Hope's mission is to "pay it forward" to other families whose children have rare gastrointestinal diseases. The organization’s mission is to assist rare, ultra-rare, and undiagnosed pediatric GI patient families with out-of-pocket and insurance denied expenses.

Caryl is a founding member of WRAP (Worldwide Rare Advocacy Partnership) collaborating with other rare disease advocates around the world on issues facing the rare disease community.

Caryl is a former member of RAM - Rare Advocacy Movement. RAM is a rare disease community leadership network founded on the premise of developing mutually beneficial collaborations between rare disease community leaders, influencers, experts and other rare disease stakeholders.

Caryl, as well as Avery’s Hope, is a member of the National Organization for Rare Disorders and is a representative for Avery’s Hope with the EveryLife Foundation for Rare Diseases, and Global Gene’s Rare Patient Alliance. She also serves as a Patient Ambassador for Illumina, Inc., a leader in whole genome sequencing technology.

Caryl has not yet retired from her “day job” and is a Bicycle Specialist for goHunterdon - Promoting Sustainable Transportation in Hunterdon County, NJ, Caryl is an avid cyclist, an artist, a wife, a mom to three amazing young men, a grandma, and "Ya Ya"; to an amazing young man living with Microvillus Inclusion Disease.

Publications and Presentations:

What It’s Like to Watch Your Grandchild with a Rare Disease

Avery’s Diagnostic Journey: Two presentation given to Illumina employees, 2020 and 2021

Financial Resources for Rare Pediatric GI Patient Families: A presentation to the GI Social Work Department at Children’s Hospital of Philadelphia 2021

Advocacy Panel at the 2019 Medical Affairs Conference, Philadelphia