Only hours old, Lucy Lynn Greenblott started having frequent seizures that would cause her to stop breathing.
The episodes worsened over the next several days and weeks, becoming longer and more dramatic. Hospitalizations were routine and prompted doctors at Dartmouth-Hitchcock Medical Center in Lebanon to perform dozens of tests in an effort to make a diagnosis.
At eight weeks old, doctors finally delivered the news to Lucy’s family: She was born with a rare genetic disease called KCNT1 Epilepsy. The diagnosis means Lucy will suffer up to dozens of seizures a day for the rest of her life and will not cognitively develop beyond infancy, said her parents Seth and Susan Greenblott, residents of Hopkinton.
“We were told that there is no cure and that in the best-case scenario her symptoms can only be managed,” the Greenblotts wrote in a recent social media post. “Unwilling to accept this outcome, we set about to forge a better future for our daughter and the other children dealing with this disease.”
Nearly one year after their daughter’s birth and diagnosis, the Greenblotts are holding their first community fundraiser on Sunday to benefit a foundation they started for Lucy and other children living with this debilitating disease. All of the proceeds from “Lucy’s 1st Birthday Fundraiser” will support the KCNT1 Epilepsy Foundation, which has partnered with Boston Children’s Hospital to develop a new class of patient-specific drugs intended to block the effects of the genetic mutation that causes the disease. The family hopes with proper funding that treatments will be available for three children, including Lucy, before the end of 2019.
The same drug won’t work for every patient because the mutations of the KCNT1 gene vary from child to child, Seth Greenblott said in a Monitor interview. With so few children worldwide diagnosed with KCNT1 Epilepsy, large pharmaceutical companies can’t justify the risks, and therefore more traditional funding mechanisms are not available, he said. The cost per child for the drug – which is injected through a spinal tap – is not yet known but estimates range in the hundreds of thousands of dollars when in-patient hospital care is factored in.
“At the time of her diagnosis, Lucy may have been the youngest in the country as she was diagnosed within just weeks of her birth. We were told there were maybe six people in the country with this disease,” Seth said. “When we got the diagnosis there was very little information available, and we realized how inaccurate much of that information was.”
The Greenblotts are looking to change that through the work of their foundation, which is continuing to connect with researchers from around the country to engage and educate the community about KCNT1 Epilepsy and the need for funding.
Seth said Lucy, who was born at Concord Birth Center, has overall been more healthy and stable than other children with the diagnosis. Lucy averages roughly 15 to 30 seizures a day, whereas some children with KCNT1 Epilepsy experience hundreds of seizures in a 24-hour period.
Although his family has faced unimaginable challenges in the past year, Seth said he has the best partner in his wife, incredibly supportive parents and in-laws, and lives in a community that has already given so much, including home-cooked meals.
“We’ve been very lucky in the most unlucky of situations,” he said.
“Lucy’s 1st Birthday Fundraiser” is scheduled for Sunday at the Greenblott’s home at 442 Briar Hill Road in Hopkinton. The event begins at 6:30 p.m. with burgers and hotdogs included in the $25 cost of admission for adults, while children are free. Popcorn and candy will also be available for sale. Disney’s “Moana” will begin at 7:30 p.m. and attendees are encouraged to bring a blanket or lawn chair as the film will be shown outdoors.
Those interested in attending the event are asked to RSVP by emailing Seth at seth@kcnt1epilepsy.org or through the fundraiser’s Facebook page.