Rareshare News Articles

May 2021 Newsletter

• The Diagnostic Odyssey
• Ethan and Me Podcast
• RareShare Disease Summaries

What disease do you have?  For many rare disease patients, that is not a simple question.  For some, it could take many years to get an answer.  For others, there never will be a clear diagnosis as they go through multiple referrals, inconclusive tests and sometimes erroneous classifications.  As cited in the UK Rare Diseases Framework, getting patients diagnosed faster may be the key to better outcomes.  Time is of the essence, as 50-70% of rare diseases affect children, and 30% of them may die before their fifth birthday.  With an estimated 350 million people worldwide impacted by a rare disease, the problem is large, but mostly invisible.  Rare diseases are under-treated because frequently medical providers don’t recognize what they are. 

Listen to RareShare's latest podcast with Geraldine Renton, book author and Irish mother of a Hunter Syndrome child. In this episode, Geraldine tells of her family's journey navigating the challenges of a rare disease that led to the writing of her book Ethan and Me

Most rare diseases are “pre-existing” conditions. Depending upon where you live and your financial circumstances, this may disqualify you from health insurance benefits and continuous medical treatment. At face value, this is an absurdity. Many diseases, not just rare ones, manifest themselves over years. This includes cancer, heart disease, diabetes, high blood pressure, allergies to name a few. Initiating treatment of such diseases at their most acute symptomatic phase is often too late and ignores the fact that preventative measures could have been taken.

The University of Illinois at Chicago has produced a brief resource guide on Understanding the Pros and Cons of Genetic Testing.

What is it like to be a parent of a rare disease child? Your role is not limited to being a full-time parent.

Advocacy groups for NGLY-1 deficiency, USP7, MEPAN and GRIN founded by highly motivated parents.

21 rare disease grants awarded to researchers.

We had the pleasure of speaking with Ian Stedman—a lawyer, a father of two, and a rare disease patient and advocate from Toronto. He has Muckle Wells Syndrome, which is a variant of Cryopyrin-Associated Periodic Syndrome, or CAPS. Ian speaks to his experience with the diagnoses, treatment, and general navigation of the health care system as a patient.

Von-Hippel Lindau Syndrome Patients or Caregivers Wanted for Paid Project

RareShare has been contacted by a market research group offering a paid opportunity for Von Hippel-Lindau patients and caregivers in Germany, France or the UK to share their experiences through an online digital journal or a web-cam based interview. 

• Unrare Challenges
• COVID-19 Impact on Rare Disease Patients
• RareWear Program
• RareShare User Survey
• CBC Podcast Series

Rare disease patients often face minority group challenges.

Thirteen year-old Bryson has a rare neurodevelopmental disease. Genetic scientists believe they know what's causing it—and think it could be reversed.  Join Bryson's dad—host Keith McArthur—on his search for answers in an 8-part podcast series: Unlocking Bryson's Brain.  Hear a very personal in-depth account of a rare disease family's ordeal in facing the unknown, obtaining a diagnosis and finding hope.  Episodes 1 and 2 were posted on April 14th.

No one expects to get a rare disease diagnosis in their mid 20s at the start of a budding career, then get fired for spending too much time away getting treatment, but that’s exactly what happened to Candace Lerman in 2014. Now, almost 6 years later, inspired by her own quest for effective treatment, Candace has retrained as a lawyer and is fighting for new treatment approvals on Capitol Hill. Candace joins us to chat about her experience as a rare disease patient, how she went from losing her job, to succeeding at law school, and about the work she is doing to assist nonprofits in the rare disease space. Candace is also going to share some advice for rare disease patients who want to have a career, and give some tips about keeping your health data safe when taking part in clinical research. www.rareshare.org

Listen to RareShare’s latest podcast featuring rare disease advocate and patient, Candace Lerman, as she describes how she overcame challenges and doubts to help others. 

One of the diseases featured on the Netflix Diagnosis program was KCNMA1-linked channelopathy, an illness characterized by sporadic seizures and limpness. 

• Diagnosis by Crowdsourcing?
• KCNMA1-Linked Channelopathy Featured in Diagnosis
• DISORDER Comes to San Francisco
• Reach Out and Connect
• RareWear Survey Assesses Monitoring Needs
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• Serving the Undiagnosed
• Obtaining a Rare Diagnosis
• Rare Genomics Institute Partners with Genomenon on AI-Based Diagnostic Technology

Stanford UDN diagnoses two brothers with MEPAN Syndrome.