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Rare Diseases February 2019

Digital health and rare diseases: a changing landscape

Doctors may only encounter a few cases or presentations of rare conditions throughout their career; but through clinical discussion with peers around the world, and across medical subspecialties, medical knowledge-sharing is possible on an unprecedented level.

How rare is rare?

A rare disease is defined by the European Union as one affecting less than 5 in 10,000 people, although the majority of rare diseases are even rarer: affecting as few as 1 in 100,000. The challenge arises from the vast array of 6,000+ rare diseases, from Cushing’s syndrome to Chikuyunga; when considered together its estimated that 1 in 17 people will experience a rare disease in their lifetime. In the UK alone, this means more than 3 million people. Globally, a staggering 400 million people are affected.

For many years rare diseases were ignored, and medications to treat them termed ‘orphan’ drugs with no ‘parent’ organisation or company able to justify the investment required. In recent years, campaigns like “Rare Disease Day” (held annually every February), alongside other efforts by the European Organisation for Rare Diseases (EURODIS) help increase awareness and understanding around rare diseases. Internationally, government and pan-national strategies have been developed to address this global health burden.

Awareness is a good first step but is not enough to tackle rare diseases; advances in medical research and pharmacotherapy are required too. What is promising is that developments in areas like immunotherapy, initially applied to large-scale health challenges such as oncology and HIV, are now being used to understand and develop treatments for rare diseases.

Digital health and rare diseases

It’s clear that tackling the rare disease issue goes beyond just awareness days and requires innovative solutions. One of these comes in the form of clinical discussion app MedShr: a GMC and HIPAA compliant network of 800,000 doctors discussing patient cases, sharing their daily practice and connecting with peers from over 190 countries.

Digital health solutions like MedShr enable doctors around the world to educate and learn from peers through real patient cases. This leads to invaluable clinical discussion around building an index of suspicion, forming diagnoses and exploring treatment options for patients suffering from various rare diseases.

Doctors may only encounter a few cases or presentations of rare conditions throughout their career, but through clinical discussion with peers around the world, across medical subspecialties, medical knowledge sharing is possible on an entirely unprecedented level.

An example of powerful educational work in rare disorders is MedShr’s Paediatric Osteomalacia and XLH Discussion Group: linking doctors across related subspecialties to understand the diagnosis and novel treatment options available to patients with X-Linked Hypophosphataemic rickets. XLH is so rare, it affects just 1 in 20,000 children. Where the usual treatment plans for rickets don’t show improvement, it’s crucial that doctors are aware of novel treatment options for their patients. This group is home to valuable discussions around the diagnosis of XLH and exploring novel treatment options such as the monoclonal antibody burosumab, which can represent a step-change in prognosis for children with XLH.

If you’re a doctor or healthcare professional with an interest in rare diseases, download the MedShr app from the App Store, or Google Play, or alternatively sign up on the website. MedShr is free to use, and all members are verified to protect patient confidentiality, and uphold the integrity of clinical discussions.

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