Mom Opens Up About the ‘Surreal’ Discovery of Her Daughter’s Rare Diagnosis. Now She’s Turning Her ‘Grief Into Action’ (Exclusive)

**Mother Channels Grief into Action After Daughter’s Rare Diagnosis**

A mother from New York, Jacalyn Lee, has transformed grief and challenges into action following the alarming diagnosis of her youngest daughter, Isla. Lee, a mother of three, described the moment she learned about Isla’s rare genetic condition – DEAF1-associated neurodevelopmental disorder (DAND) – as “surreal.”

Isla, now five years old, showed signs of developmental differences from a young age. Observing her daughter’s lack of eye contact, delayed language skills, and unusual facial expressions prompted Lee to trust her maternal instincts. Having raised two other daughters, Lana and Sienna, Lee was attuned to typical development milestones, which made her concerns more pronounced.

Determined to advocate for Isla, Lee initiated speech therapy when she was just 15 months old and sought a comprehensive evaluation from her paediatrician. This tenacity ultimately led to a diagnosis of autism. However, the journey did not end there. Roughly a year later, Isla was diagnosed with the extremely rare genetic condition DAND.

“I felt in my heart that something was different,” Lee stated, recalling how her concerns were often dismissed by others, including healthcare professionals. Nevertheless, she advocated vigorously for her daughter and, alongside her husband, Rio Escueta, ensured that Isla received the right medical and educational support.

With DAND comes a daunting set of challenges. Isla struggles with being non-verbal, relying on an augmentative and alternative communication (AAC) device, sign language, and assisted methods to convey her thoughts. Alongside this, she also experiences severe ADHD, is at high risk for seizures, faces sleep difficulties, and copes with a movement disorder and anxiety.

In an effort to channel her grief positively, Lee established a nonprofit organisation in February, the DAND Alliance, with the help of other mothers navigating similar challenges. “I wanted to create something that could contribute to raising awareness and funding research for DAND,” Lee explained. After connecting with fellow mothers through Facebook groups, they formed a tight-knit community, sharing experiences and progress regarding their children’s conditions.

The DAND Alliance aims to promote scientific research focused on better understanding the DEAF-1 gene and ultimately finding therapies or cures. Their first significant fundraising campaign gathered nearly £70,000, showcasing a collective commitment to making substantial progress in this area.

Supporting Lee and Isla are her two older daughters, who have been exceptionally understanding and empathetic. Sienna, the eldest at ten, even sells handmade bracelets in a local store, donating half of the proceeds to the DAND Alliance.

“For parents embarking on a similar journey, I encourage you to hold onto hope, trust your instincts, and be proactive advocates for your children,” Lee advised. “You know your child best, and your partnership with healthcare professionals is vital.” She emphasized the importance of awareness and funding in advancing scientific research and therapy development.

Despite the challenges brought on by Isla’s diagnosis, Lee described her daughter as a “happy little girl,” filled with love and joy. “She might face certain limitations, but she is also capable of remarkable things,” Lee enthused, encouraging others to appreciate the potential within every child, regardless of their diagnosis.

As Jacalyn Lee continues to nurture her daughter while advocating for the wider DAND community, she remains a beacon of hope and resilience, reminding us all of the importance of courage and compassion in the face of adversity.