The Challenges of Treating Rare Diseases

In an article published by SciTech Europa, Professor Susanne Gerit Kircher with the Medical University of Vienna discusses some of the difficulties experienced by professionals on the front lines of rare disease care.

For the purposes of her presentation, Professor Kircher uses mucopolysaccharide storage diseases (MPS) as an example.

A Brief Primer on Mucopolysaccharide Storage Diseases

Mucopolysaccharides (AKA glycosaminoglycans, AKA GAGs) are long molecules of sugar found throughout the body, but especially in mucous and synovial fluid. Mucopolysaccharide storage disease, and others like it, are caused by a missing enzyme that normally helps break down GAGs.

Due to this missing enzyme, GAGs build up throughout the body. Physical and mental declines are associated with this buildup, which can also affect organ function.

The Complexity of Our Bodies

Even at the most basic level, our bodies are extraordinarily complex machines. In every cell in our bodies, mitochondria, lysosomes, nuclei, and more, play unique and essential roles that are highly specialized.

Each of these critically-important organelles also represent, unfortunately, an opportunity for a genetic slip-up. Any moving part that isn’t properly oiled and greased can cause the whole machine to collapse – and a malfunctioning organelle is no exception.

Each gene linked to cell development is a potential concern – and there have been some 20,000 genes identified in humans so far.

Rare Diseases Are Rare!

Simply put, rare diseases are often so rare that medical professionals have a difficult time accurately diagnosing them. A disease is considered “rare” when it affects fewer than some 1 out of every 2,000 people, although definitions vary from country to country.

We currently know of some 7,000 rare diseases, 90% of which are genetic. It’s implausible to expect a physician to be familiar with all of these diseases, especially when they may only encounter one rare disease case over the course of their entire careers. As a result, however, many patients with rare diseases have their condition misdiagnosed – or undiagnosed altogether.

It takes the average rare disease patient a decade to receive an accurate diagnosis. Almost half of them, 40%, never receive a correct diagnosis.

What Can We Do To Change Things?

Our ability to identify dangerous genetic quirks grows stronger every day, as does our ability to process increasingly complex medical data. This helps us identify more and more genetic diseases that are often extremely rare.

In addition to increased scientific understanding of rare diseases, however, we also require an increased social understanding. Only by raising the awareness of these diseases can we expect doctors to consider them as possibilities when diagnosing a patient.

In the past, rare, or “orphan” diseases were hardly talked about, if they ever were. The increased awareness of rare diseases has only recently come about after being championed by a slew of patient advocacy groups. Thanks in part to the internet, these organizations play an increasingly large role in influencing the decisions made by both researchers and healthcare systems. Without patients’ organizations, it is unlikely that orphan drugs would ever have transitioned out of obscurity into the multi-billion dollar industry they now are.

Through a combined force of scientific advancement, increased physician awareness, and patient advocacy groups, it is possible to overcome the difficulties associated with rare disease treatment.


At Patient Worthy, we try to raise awareness about rare diseases. How do rare diseases affect your life? How do you communicate your experience with others? Share your thoughts with us!

Share this post

We believe rare disease patients are people, not a diagnosis. Through education, awareness and some humor, we help patients, caregivers and support persons by providing relevant and often inspirational news and stories.
Our goals are to share stories, cultivate strong community, provide the latest medical findings, connect people and pioneer production of patient worthy information. Help us attain these goals by telling us a little bit about yourself!

© Copyright Patient Worthy

Close Menu