ROCKINGHAM — An extremely rare genetic variant has connected families miles apart in a common goal.
What’s more ironically rare is that the only two children known to have it are both girls — named Avery.
The older of the two is Avery Davis, the 9-year-old daughter of Corey and Gene Davis of Rockingham.
According to her mother, Avery is not able to walk, talk, sit up or even roll over.
“After numerous rounds of testing, Avery was never able to be diagnosed. Avery was referred to the Undiagnosed Network through Harvard University,” she said. “The program had six sites across the United States that a participant could attend — one of those sites being Duke University.”
After “a mound of paperwork,” Davis said their daughter was accepted.
“We spent five days at Duke in November of 2018 undergoing specific tests designed just for Avery in hopes of receiving a diagnosis,” she said.
Last month, the family received a “promising” email.
“The testing had found a genetic variant (change in DNA),” she said. “Variants in this specific gene are not currently known to cause health problems. However, the UDN identified another child with the same genetic variant as Avery with a similar medical history.”
As fate would have it, that other child’s name is also Avery.
The Davis family connected with the Eppes family in Boston.
“The family had so much information to share with us,” Davis said. “This has been the most overwhelming month (in a good way) than ever.”
Named for the younger of the two, but now incorporating both girls, The Avery Project is a privately funded research initiative through the (Dr. Florian) Eichler Lab at Mass General Hospital in Boston, Massachusetts, “focused on generating critical insights into an ultra rare genetic variant impacting both Averys (currently the only known humans with this variant) to support greater understanding of its correlation to potential disease, accelerate…Eichler’s path to grant application, and hopefully identify treatments for our girls and potentially many others in the years to come.”
Eichler is a neurologist at MGH.
“Starting The Avery Project was not something we ever planned to undertake, yet we realized the importance of research as a driver of change, and the role that sharing our story could have on others in similar situations,” reads a blog post at theaveryproject.com. “Our hope is that the research initiated through The Avery Project will result in the re-designation of the genetic variant and identify appropriate treatment, both of which will help scores of families avoid the vague results of a Variant of Uncertain Significance, and move forward with the clarity, confidence, and community that results from having a diagnosis.”
The Davises now have a telehealth appointment with Eichler and “have high hopes of visiting Boston soon for a face-to-face appointment.”
“For years we felt as if all of our options had been exhausted but now we have so much hope for Avery,” Davis said.
Later this month, Aug. 29, The Avery Project will be raising money through a virtual 5K — in celebration of Avery Eppe’s third birthday — with all the proceeds going towards research.
To donate, visit: https://mailchi.mp/b9aecf1c7630/join-us-for-the-avery-project-virtual-5k
Participants are encouraged to tag The Avery Project.
“I would really like to see our community come together for this special child,” Davis said.
