For any parent, witnessing the decline of their child is an unimaginable horror. Unfortunately, this is the harsh reality faced by the family of Ava Reynolds. Ava suffers from Sanfilippo Syndrome (MPS III), a terminal and degenerative genetic disorder that affects about 1 in 70,000 births worldwide. Currently, there is no cure or effective treatment available. However, promising advancements in gene therapy at Nationwide Children’s Hospital in Ohio have shown success in halting the progression of Sanfilippo in animal studies. Human trials are tentatively scheduled to commence in late 2014.
For children like Ava, the timing of these clinical trials is of utmost importance. Each day that passes brings more irreversible damage due to this progressive disease, leading to severe symptoms that are all but inevitable. Many children with Sanfilippo experience irreversible brain damage and often lose their ability to speak by the age of six. For Ava, that deadline is swiftly approaching. As her condition deteriorates, she will gradually lose her mobility and eventually become unable to care for herself as seizures increasingly disrupt her body. Her family is desperate, clinging to the hope that these upcoming trials may provide the solution they need.
Unfortunately, without adequate funding, these crucial trials may face delays, placing Ava and others like her in jeopardy. To learn more about Ava’s journey, please visit her story’s Facebook page and connect with her on Twitter at @SavingAva #savingava. Additionally, more information on Sanfilippo Syndrome can be found at the Cure Sanfilippo Foundation, and you can explore Ava’s fundraising efforts here.
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In summary, Ava Reynolds is battling a rare and devastating illness, and her family’s hope lies in upcoming clinical trials that require significant funding. The urgency of this situation cannot be overstated, as each day brings Ava closer to the irreversible effects of Sanfilippo Syndrome. Support and awareness are critical in this fight for life.