Rareshare News Articles

RareShare is back online.

Researchers are currently studying an investigational IgAN oral drug aimed at slowing the progression of kidney disease symptoms. Volunteers are needed — learn more today via
Antidote.

Complement 3 Glomerulonephritis (C3G) study is looking for volunteers.

Prenatal or neonatal diagnosis of many genetic rare diseases is becoming possible. Should it be done?

Serving the Amish and Mennonite communities in Central Pennsylvania, the Clinic for Special Children provides counseling and healthcare for rare disorders affecting the local population. In doing so, it has become a recognized leader in the treatment and scientific understanding of conditions such as Maple Syrup Urine Disease. Listen to an in-depth, fascinating story of the clinic, its goals, accomplishments and challenges as told by current staff members. You'll almost certainly agree that it is truly a special place!

Artificial intelligence (AI) will inevitably revolutionize the diagnosis and treatment of rare diseases.  Taken as a whole, the number of rare diseases, their diverse characteristics and complex causes comprise an ever expanding data set that will require computational help to decipher.  An estimated 40% of rare disorders are misdiagnosed at the outset, leading to incorrect management and treatment delays.

As rare conditions are frequently first noticed in young children, the consequences of misdiagnosis and delayed treatment can profoundly impact disease severity over a lifetime.

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.