RARE and undiagnosed

RARE and undiagnosed… Possibly one of the most impactful
health labels to wear around your neck. Most living with a rare
disease will have spent at least some time donning this label,
but for some it is much more than a fleeting period. It can be a
timeline that extends to years, decades, and for some, an entire lifetime.
Life in the “undiagnosed limbo” is excruciating for all concerned. All
available lines of enquiry have been exhausted and have either outrun
existing scientific knowledge or extent of medical curiosity.
Those living in the undiagnosed space often experience isolation,
uncertainty and high levels of fear and stress along with frustration at
the failure of the systems around them. Systems that are designed
solely for those who can tick a box, not for those who cannot.
Yet many still fail to understand why a diagnosis matters so much, and
why families will fight so hard to swap their ‘undiagnosed’ label for
that featuring the name of an equally daunting prospect [insert one of
thousands of possible rare diagnoses].
But let’s be clear. This isn’t about labels, it’s about what that name
represents. A diagnosis is a gateway to access services and, where
available, interventions and in some cases transformative treatments.
A diagnosis helps validate and make sense of defining life experiences.
A diagnosis helps individuals and their families make informed
decisions around their care and future family building considerations.
In short—a diagnosis matters!
But, it is important to recognise that there are also, (to add to the
complexity), a cohort of families where a diagnosis is a diagnosis in
name only, which lacks the scientific understanding and rigour to yield
the much coveted benefits promised.
One thing we know for sure in all this uncertainty is that there remain
many more unanswered questions than there are answered questions.
It is therefore paramount that those working in the field maintain the
relentless pursuit for answers and professional curiosity. And this
pursuit is not an individual sport, it is a team pursuit in every sense. It
will take pioneering partnerships and ethically and culturally aligned
collaborations if we are to make a dent in solving these unanswered
problems in our life time.
It is therefore, incredibly fitting for us to bring you this edition via a truly
collaborative approach and with thanks to our co-sponsors, Illumina,
UCB Pharma and Oxford Nanopore Technologies. An edition which
brings you brutally honest accounts of life in the undiagnosed limbo,
along with insights from the movers and shakers who are making it their
mission to turn the tide for the undiagnosed community globally.
From the US and South America to Europe, and the Congo to Australia
we hope this helps bring a voice to those who need to be heard and
shines a light on those important team players who work hard to make
the invisible feel visible.
Happy New Year to all and thank you for your continued support.
Here’s to a year that bring more answers to many more families.