Rareshare News Articles

RareShare's content development team has prepared a summary of terms and concepts used to explain the role of genetics in the development and treatment of rare diseases.

February 28th is Rare Disease Day.

Do you have classical homocystinuria? You could qualify for a new paid clinical study, from home.

New member sign-up and password reset on RareShare has been restored. Email address for support requests provided.

Complement 3 Glomerulopathy study recruitment continues.

The mental health impact of rare diseases is often overlooked.

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.