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No one listened. Then a Dante Labs Whole Genome Report Gave a Single Mother's Two Children a Name for Their Disease and Access to the Specialists They Needed

#dante--For years, Susan watched her two children collapse without warning. Episodes of sudden, full-body muscle weakness that came and went — sometimes lasting minutes, sometimes hours. Between epi...

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NEW YORK: #dante--For years, Susan watched her two children collapse without warning. Episodes of sudden, full-body muscle weakness that came and went - sometimes lasting minutes, sometimes hours. Between episodes, they looked like any other healthy kids. And that was the problem.

Susan, a single mother in a small town in New Zealand, took her children to doctor after doctor. Blood panels came back normal. She was told the symptoms were stress-related. No referrals. No follow-up. No answers.

She was raising two children with a condition no one could name - and carrying the weight of that question alone.

"I watched my children go from running and playing to being unable to stand," Susan said. "Every time I brought them in, the tests said they were fine. I started to feel like the system had decided I was the problem, not their symptoms."

After her own research, Susan ordered Dante Labs Whole Genome Sequencing for both children. The reports identified pathogenic variants associated with periodic paralysis - an ultra-rare inherited condition affecting approximately 1 in 100,000 people. Standard panels test just a few genes. Whole genome sequencing reads the full DNA.

The variants had been there since birth. Undetected.

When Susan brought the reports to her children's medical team, everything changed. Neurologists accepted the findings. Geneticists followed. Her children now have access to the specialists they needed - clinicians working to confirm the findings, identify triggers, and build a management plan.

"For years, no one listened," Susan said. "Now the best specialists are paying attention. Now my kids have a name for what is happening to them - and a medical team that believes it."

"Behind every genome is a person living inside questions that traditional technologies have not yet answered," said Andrea Riposati, co-founder and CEO of Dante Labs. "The genome provides an unbiased view of every person’s code. We built this company for families like hers."

Susan's name has been anonymized to protect her family's privacy.

About Dante Labs

We are a leading provider of AI-powered genomics solutions, dedicated to accelerating discovery and improving patient outcomes through advanced computational biology tools.

Fonte: Business Wire

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