The Johnson family’s journey with Sanfilippo Syndrome, often referred to as Childhood Alzheimer’s, has been a challenging one, but their determination remains unshaken. After their daughter, Lily, became the first child globally to undergo gene therapy for this rare condition, the Johnsons have redirected their efforts towards aiding other children like Lily in accessing this groundbreaking treatment. “There are countless kids out there who need help, and we can’t let them slip through the cracks,” said Lily’s father, Mark Johnson, in a recent interview.
Two years ago, the family from North Carolina witnessed their 4-year-old daughter’s cognitive decline. Upon discovering a clinical trial for Sanfilippo Syndrome at a renowned children’s hospital, they launched a fundraising campaign. Their community rallied around them, raising approximately $250,000, which was a great start but still fell short. Then, filmmaker Alex Green stepped in, creating a heartfelt video that went viral, ultimately bringing in $2 million for Lily’s gene therapy trial.
After successfully raising funds for Lily and two other children to participate in the trial, the Johnson family made a significant sacrifice, entering a strict isolation period that lasted 726 days. “We had to shield Lily from a specific virus that could disqualify her from the trial. It was a grueling experience, but we knew it was necessary,” Mark explained. The only visitors allowed in their home were Lily’s therapists, who donned full protective gear. Mark was able to work from home, while his wife, Sara, left her job, and their son, Ethan, transitioned to online schooling. They meticulously sanitized everything that entered their home, relying on family and friends for essential errands. “When we thought about the criteria that could exclude Lily from her only shot at life, we knew we had to make the decision,” Mark shared. “Never did we imagine it would stretch on for 726 days.”
Fast forward to this May, and Lily became the very first child to receive the innovative gene therapy for Sanfilippo Syndrome. “We’re starting to see a spark in her eyes and a renewed connection with us. It felt like we’d lost that forever. She’s been much more engaged in play, even recently bringing us a toy to enjoy together, which is a huge deal,” Mark enthusiastically shared. Although the disease had robbed Lily of many skills, including her ability to speak, the gene therapy has sparked hope. “It’s clear she wants to learn and is making an effort. She’s there, and she’s doing it all with a smile!”
With renewed vigor, the Johnsons have committed to fundraising efforts to support other children battling Sanfilippo Syndrome. Mark believes that this gene therapy could benefit many more young lives. “We are incredibly optimistic,” he stated. “Early signs suggest the gene therapy is having a positive impact.” Thanks to Alex Green’s continued support, they’ve produced a new video aimed at raising awareness and funds for additional clinical trials. “This is just the beginning, a pathway for every child out there, contingent on the results,” Mark explained. “Shouldn’t every child have a shot at life?”
Their mission now is to raise awareness and funds to assist families nationwide who have children with Sanfilippo Syndrome. “Lily’s legacy is about helping her friends gain the same opportunity that she did,” her father shared. “Miracles can occur for these little ones, but action must be taken now.”
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In summary, the Johnson family has transformed their fight against Sanfilippo Syndrome into a mission to support other children facing similar challenges, ensuring that no child is left behind in the quest for life-changing treatments.