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The Diagnostic Odyssey

Publication date: 26 May 2021

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. 


Identifying a rare disease is much like detective work, where many clues are found and stitched together to find a culprit. Named diseases are established by recurrent observations of signs, symptoms and epidemiologic associations found in multiple people.  For rare diseases, where numbers are small, finding such associations is inherently difficult.  It is possible to be the first and only person to have a condition.  With nearly 8 billion people on earth, there may be a good chance that someone else is similarly affected, but unfortunately, many such persons could be beyond the reach of healthcare networks that can find them.


Another priority, therefore, is increasing the awareness of healthcare professionals of rare disorders. While education may help, it is unrealistic to expect that every physician will be able to fully understand and treat any rare disease that appears in his or her patients. Specialists within larger medical networks and research institutions are needed. Although even with all the available tools at hand, a diagnosis is not guaranteed. Sometimes, knowing what you don’t know may be the best you can do.


With the groundbreaking advent of genomic sequencing, many rare diseases can be traced to inherited mutations. Of the estimated more than 4,000 known diseases that follow a Medelian inheritance pattern, once they are characterized, they are theoretically preventable through carrier screening. But rare diseases do not always fit this pattern. Some are new spontaneous mutations that arise in an individual, others may be found in non-protein coding regions of DNA that control gene expression, and others may stem from non-heritable external causes such as infectious agents.


Undoubtedly, being able to name their disease is important for most rare disease patients. It provides a focus for research, therapies, social acceptance and even insurance coverage. With a name, the patient’s story becomes more believable and plausible as it fits a medically recognized condition. Rare diseases are estimated to have a $1 trillion dollar impact annually in the U.S.  Diagnosis determines how many of those funds are spent. It makes sense economically to try to tackle the issue through better coordination of care and improved access to specialized drugs and treatments. Yet, on a global level, particularly in low income countries, poverty limits treatment options, parents become the primary caregivers, and rare diseases are largely untreated. In this age of digital technology, expanding its reach to help find and treat the untreated is certainly a worthwhile goal, and one of the driving motivations behind websites such as RareShare.. 


What of the undiagnosed? They must be heard and helped. Government programs such as the NIH-sponsored Undiagnosed Disease Network in the U.S. (UDN) have a key role in getting patients diagnosed, as do non-profit organizations such as the Rare Genomics Institute (RG). Identifying a disease is the first step towards searching for and finding a cure. 


For most rare diseases, cures are difficult if not yet possible. The recent explosion of knowledge on genetic information and its association with rare conditions offers real hope that more effective therapies will eventually come. Progress is slow but steady, as the science behind each rare disorder is enormously complex. Yet, it is not an understatement to confidently predict that better days are ahead in treatment options for rare diseases. 


Make a Statement

For those with a named disease diagnosis, stand up and be counted. RareShare has nearly 1,000 recognized rare disease communities and can add more upon request. Within each community, members (who enroll free of charge) can connect with each other to exchange experiences and information on a specific rare disorder. Our volunteer staff is diligently working towards posting disease summary information for more and more of our communities. Those without a diagnosis can still join as at-large members and access our rare disease informational resources, such as this newsletter, podcasts, news links and disease summaries. Be a part of our effort to build awareness of rare diseases worldwide. 


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