Editor’s Choice: Families Looking For Rare Disease Answers

Happy Wednesday!

While it’s felt like January was going to last forever, we’re almost through the first month of 2019. As we gear up for February, we want to reflect on some of our favorite stories of the week. First, we have the journey of a family that helped discover a genetic mutation causing their child’s condition. Next, we have updates on MPS and Hemophagocytic Lymphohistiocytosis treatments, followed by research on acute flaccid myelitis.

Sit back and enjoy this week’s Editor’s Choice.


Families Aid Discovery of a Sensory-Processing Disorder in Broken Gene in Children with Autism Traits

Monica’s son had some autism characteristics, a high pain tolerance, and sensory-processing issues. Through collaboration with researchers, this family finally has answers.


Researchers Hope to Repurpose Bladder Drug for Mucopolysaccharidosis

While testing is still in its early stages, researchers are hopeful that drug repurposing may offer people with MPS a fast-tracked treatment.


First Treatment for Hemophagocytic Lymphohistiocytosis is Approved by the FDA

The approval of this drug was the first advancement for HLH patients in 25 years!


New Study Identifies Possible Cause of Polio-Like Disease, Acute Flaccid Myelitis

Scientists are one step closer to understanding the polio-like disease that started spreading in the US.

Do you have a rare disease experience of your own? Share with us here.

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