When her daughter was just a toddler, Kasey Walsh knew something was
wrong. Searching the web, it looked like cerebral palsy, but when
further researched, the pieces didn’t fit. Trying to find answers, Walsh
went down a path few parents could imagine. Genetic testing revealed
her daughter had a rare form of hereditary spastic paraplegia, a
neurological condition that closely resembles cerebral palsy but follows
a different course. At the time, her daughter was among only a handful
of known cases worldwide.
For Walsh, the diagnosis was both
devastating and clarifying. It explained years of unanswered questions
and gave her a direction. But it also revealed a gap that many parents
face: too often, rare conditions go undiagnosed or misdiagnosed, and
children miss opportunities for existing treatments. “Some families stop
at the first label, and they never learn there could be a therapy on
the shelf that might help,” she says.
Walsh’s
journey into rare disease advocacy did not begin as a novice. Before
becoming a mother, she worked as a healthcare service coordinator,
moderating patient and caregiver support groups. That role gave her a
deep understanding of what families endure, allowing her to navigate
medical systems, search for answers, and balance hope with uncertainty.
Still,
nothing prepared her for the lived experience of caring for a child
with a rare disease. She found herself scouring online communities,
reading medical studies, and trading notes with other parents. In those
networks, she noticed something striking. “There were countless
conversations where parents were sharing test results or symptoms that
were not being studied,” Walsh explains. “They were dismissed as
anecdotes, but some of them pointed to real pathways that could lead to
additional therapeutic options.”
That
grassroots intelligence, she believes, has already changed outcomes.
Through personal efforts, she connected her nonprofit to researchers who
were able to identify various pathways impacted through biological
testing of patients, predicting existing FDA-approved drugs to test in
disease models, which showed signs of efficacy. Observational studies
are now being planned. “It all started with parents noticing what was
not being captured,” Walsh says.
Her advocacy also runs parallel
to her own health story. During the pandemic, Walsh developed chronic
fatigue and other puzzling symptoms that doctors could not explain.
“Every test came back normal, but I knew something was wrong,” she says.
Only after joining online patient groups did she learn about a
connective tissue disorder that matched her experience, which later led
to a diagnosis. The discovery confirmed what she already believed:
persistence and peer networks can be life-changing.
Today,
Walsh is building Winsights.life, a community-driven research platform
that aims to turn lived experiences into real-world evidence. Still in
development, the project envisions a HIPAA-protected space where
families own their health data, track their child’s progress, and
connect with others navigating similar conditions. By using artificial
intelligence to sift through conversations and structured surveys, the
platform could identify patterns invisible to clinicians working in
isolation.
But for Walsh, Winsights.life
is still in the future. What matters most to her now is the message she
wants every parent to hear: genetic testing can change the course of a
child’s life. Even when recommended, only a fraction of families pursue
it. “Sometimes free testing is available, but people don’t know it,” she
says. Without it, potential therapies may remain out of reach.
Her
advice is both practical and urgent. “Trust your instincts. Get second
and third opinions if you need to. You know your child better than
anyone else,” Walsh insists. She acknowledges the challenges. Rare
disease advocacy can be isolating and overwhelming, but she stresses
that parents have power. “The parent has the greatest motivation,” she
says. “Doctors care deeply, but they see many patients. Parents see
every detail, every day.”
Walsh has seen firsthand how persistence
can lead to progress. Her daughter’s diagnosis, once among the rarest
in the world, has since become the subject of new clinical research.
Families who once had no roadmap now see signs of hope.
For Walsh,
the journey remains deeply personal. Yet through her work and her
voice, she hopes to make it easier for the next families, parents, or
patients searching for answers. “If what I have learned can shorten that
path for someone else, then it’s worth it,” she says.Kasey Walsh on Advocacy, Genetic Testing, and Building a Platform to Transform Families’ Stories Into Change