What do you do when your infant girl is diagnosed with a fatal and incurable disease? How would you process the words “There’s nothing you can do but take her home and love her?” That’s exactly what Carrie Ostrea faced when her daughter Hannah was diagnosed with an ultra rare form of neuronopathic Gaucher’s disease in 2008. “That [statement] didn’t sit well with me,” she said, “so I became a mom a mission.”
I first heard Ostrea’s story at Stanford’s Medicine X | ED conference earlier this spring, where she was part of a panel on new voices on the medical team. In a series of interviews following the event I learned more about Hannah’s diagnosis and what transpired.
Over the next few months, Ostrea told me, she reached out to anyone and everyone who studied Gaucher’s to learn all she could about the disorder. One of the people she connected with was Ellen Sidransky, MD, a senior investigator at the National Institutes of Health whose work focuses on the genetics of the disease and who led a 2009 study showing a link between Gaucher’s and Parkinson’s disease. Sidransky confirmed Hannah’s diagnosis and stayed in close contact with the family as her disease progressed.
“I learned a great deal from Hannah,” Sidransky, who has said it’s the families of Gaucher’s parents who keep her motivated to do her research, recently told me. “I also learned a great deal from her parents and siblings regarding tenacity, determination and love.”
Shortly after Hannah’s diagnosis Ostrea also started a Facebook page to connect with other parents of children with the disease. There are no more than 300 children in the world with Gaucher’s at any one time, as most die before they are two, and creating an online community opened up a whole new world for Ostrea. “Social media gave us a home,” Ostrea told me. “When you have a medically complicated and medically fragile child at home you don’t have the luxury to go out and find resources.”
After Hannah died at the age of three, her mom founded The Little Miss Hannah Foundation to support other families of children with rare diseases. Her community of advocate parents grew even stronger and in 2012, as she was putting together a collage of photos featuring children who had died of Gaucher’s disease, she noticed a striking similarity. “These girls looked so much alike and I was trying to figure it out and realized they all had the same cute button nose,” she remembered. Ostrea immediately pointed out the similarity to Sidransky, who agreed.
Two years later, this physical characteristic of Gaucher’s was featured in a paper on the management of the disease that Sidransky co-authored. It’s now one of the differentials used to determine if genetic testing should take place.
Ostrea believes this story shows the power of online communities not just to connect families but to directly contribute to research and, potentially, clinical care. “By catalyzing a group of people that can’t meet in person to work together you can get stuff done,” she told me. (And Sidransky agrees, noting that parents “can greatly help medical professionals learn about the disease and how families cope.”)
Ostrea continues her work — both online and through her foundation — she said, as “our way of continuing to parent Hannah.”
Previously: On learning, the patient’s voice and the power of stories: Stanford’s Medicine X | ED begins, A look at how social media helps connect patients with rare diseases, Parents turn to data after son is diagnosed with ultra-rare disease and Parent details practical ways to get care and support for your child’s rare disease
Photo of Hannah courtesy of Carrie Ostrea