Every parent dreads the thought of witnessing their child suffer, but for the family of Lila Johnson, this is a heartbreaking reality. Lila is battling a rare genetic disorder known as Sanfilippo Syndrome (MPSIII), which affects roughly 1 in 70,000 births globally. This terminal and degenerative condition currently has no cure or effective treatment available. However, hope shines through the ongoing clinical trials for gene therapy at Nationwide Children’s Hospital in Ohio, which have shown promising results in animal testing. Human trials are tentatively set to begin in late 2014.
For children like Lila, the urgency of these trials cannot be overstated. Each day that passes brings her closer to the irreversible effects of this disease. Most children affected by Sanfilippo experience significant brain damage and lose their ability to communicate by the age of six—an alarming reality for Lila as this milestone approaches. As the disease progresses, she will ultimately lose her ability to walk and, eventually, to care for herself as debilitating seizures take their toll. Her family holds onto the hope that these trials will provide the breakthrough they desperately need.
However, without sufficient funding, these critical trials may not continue, and time is slipping away for Lila and others facing this urgent challenge. To learn more about Lila’s journey, visit her Facebook page or connect with her on Twitter at @SavingLila #savinglila. Additionally, you can find more information about Sanfilippo Syndrome at the Cure Sanfilippo Foundation, and discover ways to support Lila’s fundraising efforts here. For those interested in related topics, check out this informative piece on home insemination, where you can find more resources here.
In summary, Lila’s fight against Sanfilippo Syndrome underscores the urgent need for research and funding to combat rare diseases. The hope for a cure lies in the hands of researchers and the community that supports them.