Parents Face Heartbreaking Challenges of Daughter’s Rare Disease

The parents of a young girl diagnosed with a rare genetic disorder are grappling with profound emotional challenges as they navigate her deteriorating health. Rosie Vukic, aged nearly four, suffers from Batten disease CLN2, a condition with a life expectancy of just 10 to 12 years without treatment. Her parents, Emma Vukic and Max Bridge, both 38, describe their experience as a phase of “prolonged grief.”

Rosie developed normally until she was two years old, when her speech began to regress. Max, a photographer and director, and Emma, a freelance producer, closely monitored their only child. However, on September 2, 2024, Rosie had her first seizure, marking the beginning of an arduous journey. Since that day, she has experienced over 3,000 seizures of varying intensity.

In January 2024, after being advised to pursue gene testing, Rosie’s diagnosis was confirmed on August 8, revealing she has Batten disease CLN2. This rare degenerative disorder affects only 30 to 50 children in the UK, according to the Great Ormond Street Hospital for Children (GOSH). The couple described their reaction to the diagnosis as devastating. Emma remarked, “Our hearts were completely ripped into pieces; it was the worst thing we could have possibly imagined.”

As Batten disease progresses, children lose the ability to walk, speak, see, and swallow, ultimately leading to paralysis and death. Max expressed the couple’s concerns, stating, “I want her to be here forever, I don’t want her to go – especially in the way that she’s going to go.”

Despite the grim prognosis, Rosie has begun receiving treatment aimed at slowing the disease’s progression. The treatment, which includes biweekly infusions, is not a cure but may extend the time she has to create memories with her family. However, there are concerns that funding issues may soon restrict access to this vital treatment for newly diagnosed children, as indicated by the National Institute for Health and Care Excellence.

Emma highlighted the toll the disease has taken on Rosie in just one year, noting that she can no longer walk independently and is experiencing significant speech loss. “We feel Rosie is already suffering from childhood dementia,” she stated. Max added, “Who knows how long she has now? It could be a couple of years, it could be quite a bit longer.”

To provide Rosie with the best possible quality of life, Emma and Max have launched a GoFundMe campaign, which has raised over £19,000. The funds will help cover special therapies, including music, water, and rebound therapy, as well as planned trips to create joyful memories, such as a visit to Disneyland Paris.

The couple emphasized the importance of making the most of their time together. “Life and work still have to continue, even if it seems so pointless now,” Max explained. “I want to spend every moment with Rosie and Emma, but that’s not possible.”

As they navigate this challenging journey, Rosie remains a source of joy and love. Emma describes her daughter as “very outgoing and inquisitive,” while Max calls her “the most beautiful little girl you’ll ever see.” The Vukics continue to advocate for awareness of Batten disease and seek to create lasting memories for their beloved daughter.

For those interested in supporting Rosie’s journey, more information can be found on the GoFundMe page and the Batten Disease Family Association’s website at bdfa-uk.org.uk.