Megan's Rare Disease Day Story
In 2014, Megan was one of the first 11 individuals identified with a genetic defect on the PURA gene and “PURA Syndrome was born.” Mary states, “we were so relieved to finally have an answer and a name for Megan’s condition and we were able to connect with other families through social media almost immediately.”
“We were so relieved to finally have an answer and a name for Megan’s condition and we were able to connect with other families through social media almost immediately.” - Mary Overfield
Megan is now 23 years old. She is non-verbal and non-ambulatory and gets all of her nutrition and medications via g-tube. However, she is a “truly happy young lady and has a sweet spirit. She loves to watch and interact with her pup, Tanner, and she enjoys music, van rides, and Zoom calls with her peers.” Megan has an older sister, Emily who is Megan's voice and biggest supporter.
Megan, unfortunately, has also been diagnosed with Lennox-Gastaut Syndrome (LGS) which is a severe form of epilepsy. Affected individuals experience several different types of seizures and it is often very difficult to treat. Her physicians believe that PURA Syndrome is the root cause of Megan’s LGS. Megan sees an excellent team of neurologists at the University of Rochester Medical Center and has been enrolled in several clinical trials for new, emerging epilepsy treatments over the years. In October of 2019, Megan had a vagus nerve stimulator (VNS) placed and Mary states, “it has had a remarkable impact on reducing Megan’s seizures.” In addition to neurology, Megan sees a number of specialists at the University of Rochester Complex Care Center, including gastroenterology, pulmonology, dental, and primary care.
“Raising awareness for PURA, LGS, and other rare diseases is so important in the advancement of genetic research. A genetic discovery in one realm can have a potential impact on several other genetic anomalies." - Mary Overfield
The Overfields chose to share their story for Rare Disease Day 2021 because “raising awareness for PURA, LGS, and other rare diseases is so important in the advancement of genetic research. A genetic discovery in one realm can have a potential impact on several other genetic anomalies. And rare doesn’t necessarily mean there are not many of us out here – genetic testing is still new and is in very limited use in adults. There are likely many adults who have PURA or other genetic anomalies that have just never had genetic testing done, so they are unaware of their diagnosis.”
“Megan is such a strong little fighter and we are so very proud of her and all she has overcome, despite many challenges and ongoing medical frailty.”
The PURA Syndrome Foundation wishes to thank the Overfield family for their participation in this Rare Disease Day piece.