Figuring out if your child has a rare disease is a concerning and challenging puzzle for parents.Two members of the Gillette team, pediatric neurologists Randal Richardson, MD, and Jamie Eskuri, MD, say finding answers and guiding families through a rare disease diagnosis and care plan is one of the most rewarding parts of their jobs.

The U.S. Food Drug Administration’s (FDA’s) recent approval of a new oral medication to help treat spinal muscular atrophy (SMA) is being hailed as a “game changer” by Gillette Children's neurologist, Randal Richardson, MD, MMS. “The main message I want to get out to people who have SMA and their families is—many of you now have options and the power to make a choice for yourself,” Richardson says.

All babies born in Minnesota are now being screened for spinal muscular atrophy (SMA) unless their parents opt out of the newborn screening, the Minnesota Department of Health recently announced. SMA is the leading genetic cause of early childhood death in the United States.

Anna Hendricksen held her breath and spent hours in suspended hope as pediatric neurologist Randal Richardson, MD, and his team assessed her daughter, Annika, to determine if she met the criteria to participate in the clinical trial for Spinraza ™, also called nusinersen, a drug to treat spinal muscular atrophy (SMA).

Gillette Children's is playing a key role in the clinical trials and research into the drug Spinraza, also called nusinersen.The drug is being celebrated as the first real hope for people who have spinal muscular atrophy (SMA).