In 2009, Sociology professor Maria Kefalas, Ph.D., and her husband welcomed their fourth child to the world. They named her Calliope Joy (Cal for short) to symbolize the overwhelming joy that filled their lives after her birth. As a baby, Cal had a vibrant personality and boundless energy, earning her the nickname “Happy Feet.” When she began showing signs of developmental delays, Maria’s instinct was “we’ll just fix this,” and she worked with Cal to improve her speech, sensory and social issues. It wasn’t until Cal fell down one day that Maria and her family knew something more challenging was presenting in their youngest daughter.
After an ENT specialist at Children’s Hospital of Philadelphia recommended a neurologist, Cal was admitted within 24 hours for an MRI. When the results came back, Maria looked up at the clock and thought, “this is the moment when my old life is going to end.” Leaving the hospital with only a single sheet of information, Maria’s old life was indeed in the past when Cal was diagnosed with metachromatic leukodystrophy or MLD.
Maria’s new life of research, fundraising, and taking initiative began in earnest two years after Cal’s diagnosis. She immersed herself in all that was happening with newborn screening and realized that there was so much more that more needed to be done. In 2013, Maria and her family began fundraising by selling cupcakes to support children with leukodystrophy. The family named their nonprofit The Calliope Joy Foundation and raised $450,000, which was used to help establish the nation’s first Leukodystrophy Center of Excellence at CHOP in 2015.
“You take the worst thing that could happen but the love for your child and the desire to do good can absolutely change the world,” Maria explains.
Maria Kefalas, 2018 Rare Impact Award HonoreeReflecting on when Cal was diagnosed, Maria is pleased to know that today, families don’t walk away with just a sheet of information on Leukodystrophy, but with packets of information, references to websites to visit, and ongoing support. Cal sparked a contagious effort to keep things moving forward in leukodystrophies.
Maria recalls the words of Cal’s neurologist and Medical Director of the CHOP Leukodystrophy Center, Dr. Amy Waldman. “Something has changed now and we don’t tell families anymore to go home and watch [their] babies die.”
Now, children with leukodystrophy who would have been terminal years ago, and not walking, are running around like kids.
NORD is honored to present Maria Kefalas with a 2018 Rare Impact Award.
Join us during NORD’s 35th Anniversary Celebration presenting the Rare Impact Awards on May 17!