For parents, there is no greater horror than witnessing the decline of their child’s health. This is the heartbreaking reality for Mia Thompson and her family. Mia suffers from Sanfilippo Syndrome (MPS III), a rare and progressive genetic disorder that impacts about 1 in every 70,000 births worldwide. Sadly, there is currently no known cure or effective treatment available. However, encouraging developments in gene therapy at Nationwide Children’s Hospital in Ohio show promise. These trials have successfully halted Sanfilippo in animal models and are set to begin human trials, tentatively slated for late 2014.
The urgency of these trials cannot be overstated for children like Mia. Each day that passes is another day of the disease advancing toward irreversible and debilitating symptoms. Most children diagnosed with Sanfilippo experience severe brain damage and typically lose their ability to communicate by the age of six. For Mia, this means she has less than two years before she may face these devastating consequences. As the condition progresses, she will likely lose the ability to walk and eventually require assistance for basic tasks, including feeding herself, as seizures take a toll on her body. Her family holds onto the hope that these clinical trials will provide the crucial treatment they desperately seek.
Unfortunately, without sufficient funding, these trials may not proceed, and time is running out for Mia and others battling this relentless disease. To learn more about Mia’s journey, visit her story’s Facebook page and follow her on Twitter at @SavingMia #savingmia. You can also explore Sanfilippo Disease in more detail at the Cure Sanfilippo Foundation and connect with Mia’s fundraisers here. Moreover, if you’re interested in similar topics, you might find our post on the couples’ fertility journey for intracervical insemination insightful, as it discusses at-home options and provides useful information. For those looking for excellent resources on pregnancy and home insemination, check out this link.
In summary, the ongoing battle against Sanfilippo Syndrome represents a race against time for families like Mia’s. With the potential of upcoming clinical trials, there is a glimmer of hope that could change the course of this cruel disease.
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