Knowledge is power
Executive Director Marianne Clancy says she didn’t choose hereditary hemorrhagic telangiectasia (HHT), it chose her. A patient herself, and motivated by the sudden loss of her sister and mother to HHT, she joined the Board of Directors in the Foundation’s early stages. Since becoming Executive Director, she has personally counseled thousands of patients and families who have lost loved ones and children from a lack of a diagnosis or improper medical treatment. This work inspires her every day.
HHT is a not so rare genetic disorder that leads to abnormal blood vessel formation most commonly in the nose, lungs, liver, brain, spine, gastrointestinal tract, and on the skin. Symptoms, most commonly nosebleeds, typically appear around age 10 and progressively worsen with age. Diagnosis is often delayed for decades, and HHT is often misdiagnosed as various life-threatening conditions such as asthma, heart failure, stroke, and/or colon cancer. There are no FDA-approved HHT treatments.
Patient involvement is critical to advance treatments and improve the quality of life for those with HHT. For Cure HHT, collaborating with researchers and physicians has been instrumental in reaching key milestones, including the development of diagnostic and treatment guidelines that are now the standard for HHT care. Cure HHT seeks to connect patient, scientist, and physician communities while fostering global collaborations that translate research into safe, effective treatments.
Research Progress & Capacity Building Updates
Cure HHT launched the Cure HHT International Research Network, a collaborative group of patients, clinicians, and scientists to incorporate the patient voice in prioritizing research important to the patient’s quality of life. Through the focused work of a dedicated coordinator, these networks are creating opportunities for facilitation.
Cure HHT currently is planning an in-person patient- led international convening in March 202 . The convening is an opportunity to finalize a consensus for a five-year Strategic Research Roadmap for project investment. Patient outcomes will be prioritized starting with the development of a patient registry, HHT Connect, which will be launched early 2022. Cure HHT has expanded outreach by connecting physicians to communities in underserved areas to coordinate care for cases that have gone unstudied and unreported.
Since joining the Rare As One Network, Cure HHT has leveraged the expertise of consultants to inform structural changes to organization operations, standardization of financial reporting, educational outreach and translation of patient education, fundraising to stabilize operations, and utilization of tools such as project management software resulting in more efficient and focused projects.
“Collaborating with researchers and physicians has been instrumental in reaching key milestones.”