Rareshare News Articles

In response to requests, RareShare has recently added new disease communities for GNB-5 Disorder (guanine nucleotide-binding protein), Glycogen Storage Disease Type 7 and Median Arcuate Ligament Syndrome (MALS).  Those with an interest in these disorders, as patients, family members, caregivers, physicians and researchers are encouraged to join the communities and start a discussion with others having a similar interest.  If there is a rare disorder for which we currently do not have a community, let us know and we can start one for you.  

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

Mucopolysaccharidosis (MPS) is a collection of rare genetic diseases characterized by a deficiency in an enzyme involved in the breakdown of certain long chain sugar molecules.  The accumulation of these molecules over time produces symptoms typically appearing in early childhood and progressing to organ failure and reduced life expectancy.  There are 7 known types of MPS.  MPS II or Hunter Syndrome affects about 1:162,000 babies.  May 15th is MPS Awareness Day.  Learn more about MPS by following the links below.

Tell your story in a RareShare podcast or newsletter article.

Rare Disease Day is observed on the last day of February every year.  It reminds us of the challenges faced by rare disease patients everyday worldwide and inspires us to redouble our efforts to make their lives better.

Mediaplanet UK/Ireland invites you to access a collection of stories about rare disease challenges, treatment and care as part of its Rare Disease Day campaign. The need for better therapeutics is critically important, as stated by Jayne Spink of the Genetic Alliance UK, "Less than 5% of the more than 6,000 rare diseases currently have an available medicine." To read more, follow the online link referenced below on or after March 1.

The Familial Chylomicronemia Syndrome (FCS) Foundation is asking those interested in rare diseases to support the HEART (Helping Experts Accelerate Rare Treatments) Act by petitioning their U.S. Congressional representatives. The bill is designed to ensure that rare disease experts and patients are involved in the drug review process for rare disease therapeutics.

Every rare disease patient or family has an unique story to tell about coping with challenges for a condition that few have heard about. Share yours in a Rare Genomics Institutes blog commemorating Rare Disease Day.

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.

This episode features RareShare itself, and discuss various topics ranging from its goals and how to utilize its networking and informational content. We hope to provide you with a brief, but comprehensive view of the website's features, the diverse and driven volunteers who make this work, and a glimpse of our future plans

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.

Join RAREwithCOVID - A contact registry for Rare Disease patients with COVID-19. 

RAREwithCOVID is open to ANY Rare Disease patient who has or had COVID-19. 

RareShare has recently become aware of a free genetic screening opportunity for neutropenia patients.

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.