By Angela Gartner • Photography by Elaine Eisner
Scott Gohn and Elaine Eisner started Livespecial.com in conjunction with National Council of Jewish Women/Cleveland (NCJW/CLE), a signature project serving Northeast Ohio, because they wanted to pull together resources since their daughter Alana was so unique.
Alana Gohn, 15, of Solon, was initially diagnosed with microcephaly as an infant, but there were still missing pieces of Alana’s development that didn’t match completely.
“Because we didn’t have that (complete) diagnosis, it was difficult to figure out the (right) support,” Alana’s parents say.
After years of searching to get answers, Gohn and Eisner were able to receive a diagnosis of HUWE1-related neurodevelopmental disorder after years of meetings and tests with a geneticist from the Cleveland Clinic.
According to HUWE1.org, the HUWE1 gene is located on the X chromosome, which impacts cells throughout the body. Research indicates it is associated with issues such as brain development, intellectual disability and other health issues.
Eisner says it’s comforting to have a diagnosis.
“It’s helpful and a little peace of mind,” Eisner says. “We’ve uncovered every stone and have come up with the ‘why.’ Now we know we haven’t missed some big thing that could have helped her differently.”
The diagnosis provides the answer, but it doesn’t necessarily change the daily care of their daughter Alana.
Gohn and Eisner say that it does provide data-sharing, therapeutic research for gene therapy and connections to a group of other families who have kids with HUWE1 genetic conditions.
“What has changed is that it gives us a community of individuals like Alana and families that we can bounce ideas off of and share information about what works for your kiddo,” Gohn says. “It gives us the ability to try [a support] because it might be working for someone else.
“We are still going to keep advocating for her, and help drive her to be the best Alana she is going to be,” Gohn adds.
“It helped us to know that you are not alone in the process and not alone in your journey,” Eisner says, encouraging those who are still struggling with their search to not give up.
“Science will catch up if your kid doesn’t fit into a (certain) box,” Eisner says.
