Dobbs Ferry mother raises awareness about ultra-rare genetic condition
The DEAF1 gene plays a vital role in early brain development.
More Stories
Jacalyn Lee, of Dobbs Ferry, founded "The Dand Alliance," a nonprofit aimed at raising awareness and funds for DEAF-1 Associated Neurodevelopmental Disorder, otherwise known as DAND.
Jacalyn Lee lives with her husband Rio and three daughters in Dobbs Ferry.
Her youngest, Isla, is a 5-year-old ball of energy.
Isla loves toys, snowboarding, swimming and hanging out with her two older sisters, Sienna and Lana.
Though at only a year old, her parents Jacalyn and Rio, started noticing something was different with Isla.
"We ultimately got her into a research study, and she was diagnosed as autistic when she was two years old...and about a year later, we did genetic testing, and it turns out, she actually has this extremely rare genetic condition called DEAF-1 Associated Neurodevelopmental Disorder. The acronym is DAND," said her mother, Jacalyn.
The DEAF1 gene plays a vital role in early brain development.
When mutated, it can lead to a wide range of neurological and developmental challenges.
Common traits with DAND include autism, impacted speech, seizures, movement disorders, anxiety and more.
According to the United States Food and Drug Administration, DAND affects less than one in 50,000 people.
This qualifies the condition an ultra-rare.
"We decided that something needed to be done. There was some research on DAND, but not a lot and so to really raise awareness and understanding, and hopefully find a cure, we decided, us five moms, to found a nonprofit which we did earlier this year," said Jacalyn.
Through social media, Jacalyn was able to connect with 4 other full-time working moms around the country who all have children with DAND.
"There's so little known that research is critically needed to better support these children," she said.
Since its conception, the nonprofit has raised $65,000.
Its immediate goal is $300,000 to unlock critical research and has an overall goal of $4M to help launch DAND research forward.
This would fund the "building of cell lines, mapping the biology, and help to test early treatment options."
According to The DAND Alliance, "diagnosis are rising dramatically—up to over 62% a year—and [DAND is] closely linked to autism."
"I would say have hope if you have a child with a rare genetic condition. You know, it's definitely been a journey. There is definitely grieving...but there's also a lot of hope," said Lee.
To learn more about DEAF-1 Associated Neurodevelopmental Disorder and The DAND Alliance, please visit their website here.
