RARE Neuromuscular
The field of rare neuromuscular disorders is one of extremes.
For many a rare neuromuscular diagnosis is nothing short of
devastating—families watch these cruel group of disorders rob their
loved ones of quality of life, and individuals directly affected must adjust to
the, at times, catastrophic impact of living with a disease that is typically
progressive by nature.
By contrast, for some their is hope. Significant progress in the realm of rare
advocacy and the expansion of therapy pipelines, means that for some
families, today’s diagnosis may not mirror that of previous generations. The
pace of progress is such that even siblings can experience very different
outcomes as treatment options improve and come to market.
But while progress should be celebrated, and we are proud to do so within
this edition, it is important to acknowledge that for the vast majority of this
community this progress remains frustratingly slow with any form of therapy or
intervention out of reach. The unmet needs are great and there is a tangible
lack of a holistic care approach to take account of the complex and nuanced
needs of those living with progressively degenerative disorders. The cycles
of grief that track the arc of disease progression are felt differently by all, as
individuals and their support systems adapt to changing needs while striving
to retain maximum independence and dignity at every stage.
In this edition we are proud to bring you insights from across the varied
neuromuscular community, along with the latest in scientific and medical
breakthroughs. From basic science and de-stigmatising incontinence, to
thought leadership on how to improve informed decision making, we address
the important issues raised by today’s collective community.
As I introduce this edition, it is also important to acknowledge the
unprecedented backdrop that the scientific community is operating within
which has seen a period of great uncertainty over the last two years. To that
end, I am pleased to invite our sponsor Sarepta Therapeutics to say a few
words to a community they are passionate advocates for:
“At the heart of our mission lies a deep commitment to improving
the lives of patients with neuromuscular rare diseases. These
conditions, while individually uncommon, collectively impact
thousands of individuals and families who often face long
diagnostic journeys, limited treatment options, and a need for
greater awareness and support. Our dedication to this community
is not only a matter of compassion—it’s a driving force behind
scientific progress. By focusing on some of the most complex and
challenging rare conditions, we push the boundaries of what’s
possible in medicine, paving the way for breakthroughs that often
ripple far beyond rare disease. This issue is devoted to the stories
behind the science—of resilience, partnership, and the real impact
of our shared work. These voices remind us why we do what we do,
and why we must keep going.
Dr. Louise Rodino-Klapak, president of research and development
and technology operations, and Wendy Erler, senior vice president
of patient affairs, Sarepta
My hope is that this edition serves to inform and engage our global audience
on the topic of rare neuromuscular disorders, and that it leaves those families
directly affected feeling seen and heard—giving a voice to their diverse
experiences, through both the highs and the lows of life with NMDs.
Nicola Miller
editor-in-chief
editor@rarerevolutionmagazine.com
