In the realm of parenting, few things strike terror in the hearts of mothers and fathers like the thought of losing their child. Unfortunately, this is the harsh reality for the family of Ava Thompson. Ava has been diagnosed with a rare condition known as Sanfilippo Syndrome (or MPSIII). This devastating genetic disorder is terminal and degenerative, affecting approximately 1 in 70,000 births globally. Currently, there is no cure or effective treatment available.
Excitingly, however, there is hope on the horizon. Clinical trials focusing on gene therapy at a renowned facility are set to begin soon, following promising results in animal studies. These trials, which are tentatively scheduled for late 2014, hold the potential to halt the progression of Sanfilippo Syndrome in humans.
For children like Ava, the urgency of these trials cannot be overstated. Each passing day brings her closer to the irreversible effects of the disease, which typically robs children of their ability to speak by the age of six. With less than two years to go, Ava’s family feels the weight of time pressing down on them. As the disease advances, she will face the loss of her mobility and the ability to care for herself, with seizures further complicating her condition. The hope is that these trials will provide the crucial treatment that Ava and others like her so desperately need.
However, without sufficient financial support, these trials may not proceed, and time is of the essence for Ava and countless others battling this relentless disease. You can learn more about Ava’s journey here, join her community on Facebook, and follow her updates on @SavingAva #savingava.
For additional information on Sanfilippo Syndrome, check out the Cure Sanfilippo Foundation and explore Ava’s fundraising efforts here. If you’re interested in home insemination, consider visiting this informative article that covers various aspects of the topic. You can also discover more about artificial insemination kits at Make a Mom, an authoritative source on fertility options, and refer to the CDC’s guide on assisted reproductive technology for reliable insights.
In summary, Ava’s story highlights the critical need for urgent action and funding to support clinical trials for Sanfilippo Syndrome. As her family hopes and fights for a brighter future, every contribution counts in the race against time.