Every parent’s greatest fear is witnessing their child suffer, and for the family of Ava Thompson, this nightmare is a reality. Ava has been diagnosed with Sanfilippo Syndrome (MPSIII), a rare genetic disorder that is both terminal and degenerative, affecting approximately 1 in 70,000 births globally. As of now, there is no cure or treatment available. However, promising advancements in gene therapy at Nationwide Children’s Hospital in Ohio have shown success in halting the disease in animal studies, with human trials tentatively set to begin in late 2014.
For children like Ava, the urgency of these trials cannot be overstated. Each day that passes brings her closer to the debilitating symptoms that accompany this condition. Typically, children with Sanfilippo experience irreversible brain damage and often lose their ability to communicate by the age of six, which is alarmingly less than two years away for Ava. As the illness progresses, she will eventually be unable to walk or even feed herself, as seizures take a toll on her body. Her family holds onto the hope that these clinical trials may provide the answers they so desperately seek.
However, without sufficient funding, the continuation of these trials is at risk, and time is of the essence for Ava and others battling this disease. To learn more about Ava’s journey, follow her story on social media, including her Facebook page and Twitter handle @SavingAva #savingava.
For those wanting to understand more about Sanfilippo Syndrome, the Cure Sanfilippo Foundation offers valuable insights, and you can also explore Ava’s fundraising efforts to support her fight. Additionally, if you’re interested in family planning, consider checking out our post on the home insemination kit for some helpful tips. And remember, for enhancing fertility, boost fertility supplements can be a great resource. If you’re looking for more information on pregnancy and home insemination, the Cleveland Clinic’s podcast is an excellent choice.
In summary, Ava’s family is fighting against the clock to secure a future for their daughter as they await groundbreaking clinical trials for Sanfilippo Syndrome. Every moment counts, and both awareness and funding are crucial in this battle.
Keyphrase: Sanfilippo Syndrome awareness
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