rare disease Archives - Inspire Corporate

Beating back chronic myelogenous leukemia
Patient communities, Clinical trial awareness recruitment, Patient insights

Beating back chronic myelogenous leukemia

Beating back chronic myelogenous leukemia By Kathleen Hoffman, PhD, MSPH A patient feels fine, but a routine complete blood count (CBC) test reveals an unusually high white blood cell count. High white blood cell counts may result from many conditions, but if it’s accompanied by other signs such as high or low platelet counts and anemia, further tests may reveal that the patient has Chronic Myelogenous Leukemia, or CML. CML is a blood cancer that starts in the bone marrow and results in an overgrowth of damaged white blood cells. Most people’s diagnosis begins after a routine [...]

Dec 2021By Kathleen Hoffman, PhD, MSPH|1 Comment

“Still alive and kicking” – The importance of sickle cell disease clinical trial awareness
Patient communities, Clinical trial awareness recruitment, Patient insights

“Still alive and kicking” – The importance of sickle cell disease clinical trial awareness

"Still alive and kicking" - The importance of sickle cell disease clinical trial awareness By Kathleen Hoffman, PhD, MSPH Sickle cell disease (SCD) is a rare disease: an inherited and incurable blood disorder that causes red blood cells to be misshapen and rigid, affecting their ability to provide oxygen to tissues. Their shape and rigidity cause random blood vessel inflammation and blockages anywhere in the body, with associated organ damage. Six million people suffer from SCD worldwide and many more carry the trait that causes it.1 It prevails in people whose genetics include a connection with sub-Saharan [...]

Nov 2021By Kathleen Hoffman, PhD, MSPH|1 Comment

Familial Amyloidosis: “So Rare You’ll Never See Anyone With It”
Patient communities, Patient insights, Patient stories, Patient-centered healthcare

Familial Amyloidosis: “So Rare You’ll Never See Anyone With It”

Familial Amyloidosis: "So Rare You’ll Never See Anyone With It" By Kathleen Hoffman, PhD, MSPH Until recently, the only treatments for a rare disease called familial amyloidosis were symptom management or a liver transplant. Not only is the disease inherited, genetic, and rare, its incidence varies widely by region: The NIH says it occurs in about 1 in 583 people in some parts of Portugal, compared to about 1 in 100,000 people in the US. Inspire members say that the path to diagnosis and treatment is long and convoluted: I was diagnosed with familial TTR Amyloidosis about [...]

Apr 2021By Kathleen Hoffman, PhD, MSPH|0 Comments

A Surprise Diagnosis: Chronic Kidney Disease
Patient communities, Patient insights, Patient stories, Patient-centered healthcare

A Surprise Diagnosis: Chronic Kidney Disease

A Surprise Diagnosis: Chronic Kidney Disease By Kathleen Hoffman, PhD, MSPH March is National Kidney Month, when communities across the country work to raise awareness about kidney disease. Not too worried? You might want to check: The CDC estimates that 15% of adults are estimated to have Chronic Kidney Disease (CKD). That’s 37 million people in the US alone. Even worse: Most (9 in 10) adults with CKD do not know they have it. You can be unaware even if you’re in serious danger of kidney failure. One in 2 people with very low kidney function who [...]

Mar 2021By Kathleen Hoffman, PhD, MSPH|1 Comment

Trying To Find More Answers About Tuberous Sclerosis Complex
Patient communities, Patient insights, Patient stories, Patient-centered healthcare

Trying To Find More Answers About Tuberous Sclerosis Complex

Trying To Find More Answers About Tuberous Sclerosis Complex By Kathleen Hoffman, PhD, MSPH Tuberous Sclerosis Complex (TSC) is a “rare” genetic disease: According to the Tuberous Sclerosis Alliance, Inspire’s community partner, “At least two children born each day will have tuberous sclerosis complex.”1 Classifying a disease that affects a million people worldwide as “rare” doesn’t comfort patients with TSC. Created by mutations in one or two genes, TSC1 and TSC2, its manifestations vary widely depending on the nature of the mutation, which is why it is called “tuberous sclerosis complex.” It’s a complex genetic disorder. It [...]

Feb 2021By Kathleen Hoffman, PhD, MSPH|0 Comments

Portraits of resilience: How patients and caregivers cope through the COVID pandemic
Patient stories, Patient communities, Patient insights

Portraits of resilience: How patients and caregivers cope through the COVID pandemic

Portraits of Resilience: How Patients and Caregivers Cope through the COVID Pandemic By Richard Tsai The word “storytelling” invokes a pleasant image of listeners around a campfire, listeners from any era and any culture. It could, however, just as accurately evoke an image of brain chemistry that creates direct experience and even changes behavior: I originally discussed this concept in an earlier post, “Why Storytelling Builds Brands.”1 Research shows that people remember stories better than mere facts and that the brain can store more information and retrieve it more easily when it is in story form.2 Storytelling [...]

Feb 2021By Richard Tsai|0 Comments

Eosinophils: Friend or Foe? Eosinophilic Disorders
Patient communities, Clinical trials, Patient insights

Eosinophils: Friend or Foe? Eosinophilic Disorders

Eosinophils: Friend or Foe? Eosinophilic Disorders By Kathleen Hoffman, PhD, MSPH Eosinophils are amazing, power-packed cells of the innate immune system. Loaded with granules of cytokines, chemokines, RNAses, cationic proteins, growth factors and more, these leukocytes were thought to be the body’s primary tool to destroy parasites. Now, however, eosinophils are being understood as regulators of inflammation and tissue regeneration. They are also involved in maintaining the defensive structure of the epithelium, residing in mucosal tissue that interfaces with the environment. Additionally, they act as antigen presenting cells (APCs), communicating between the innate and adaptive immune systems. [...]

Feb 2021By Kathleen Hoffman, PhD, MSPH|0 Comments

What’s one of the top ten mysterious diseases? Sarcoidosis
Patient communities, Patient insights

What’s one of the top ten mysterious diseases? Sarcoidosis

What’s one of the top ten mysterious diseases? Sarcoidosis By Kathleen Hoffman, PhD, MSPH Rare disease sufferers may be few in number for a particular condition, but they are an army of survivors when they’re together. Sarcoidosis is one of the 3000 rare diseases represented in Inspire’s community. With 600,000 Inspire members affected by rare conditions, the over 95,000 making up the Sarcoidosis audience on Inspire or “sarkies,” as they call themselves, are in good company. Dr. Michael Iannuzzi, the Edward C. Reifenstein Professor and Chair at the State University of New York-Upstate Medical University, calls sarcoidosis [...]

Jan 2021By Kathleen Hoffman, PhD, MSPH|2 Comments

How Has COVID-19 Impacted Patients with Rare Conditions?
Patient insights, Patient communities

How Has COVID-19 Impacted Patients with Rare Conditions?

How Has COVID-19 Impacted Patients with Rare Conditions? By Judy Chandler Over 600,000 Inspire members are affected by rare conditions. As a vital partner to 40 rare disease non-profit advocacy organizations, Inspire’s rare disease patient and caregiver members represent over 3,000 rare conditions. Serving as a common point across these diverse conditions, Inspire was uniquely positioned to learn how rare disease communities were being affected by COVID-19. First, we noticed a surge of COVID-19 posts across all of Inspire through the month of March. Inspire’s research team began by reviewing some of these member communications to identify [...]

Oct 2020By Judy Chandler|0 Comments

Patients Are The Best Resource For Defining Study Endpoints
Patient insights, Patient communities

Patients Are The Best Resource For Defining Study Endpoints

Patients Are The Best Resource For Defining Study Endpoints By Robert Gardner In September, the World Orphan Drug Congress USA Fall Webinar series opened with a program called: “Understanding the Novel Challenges in Rare Disease Development: Perspectives From Experts.” They took an audience poll, asking attendees to identify their “biggest challenge in rare disease studies” from five choices, including competition for patients; lack of understanding of disease progression; development of appropriate endpoints; lack of data; and global regulatory pathways. Almost half the respondents -- 46% -- chose “development of appropriate endpoints” as the biggest challenge in rare [...]

Oct 2020By Robert Gardner|0 Comments