It’s a parent’s worst fear—watching their child suffer from a life-threatening illness. This is the reality facing the family of Ava Thompson. Ava suffers from a rare genetic disorder known as Sanfilippo Syndrome (MPS III), a terminal and degenerative condition that affects approximately 1 in 70,000 births globally. Currently, there is no known cure or treatment. However, promising advancements in gene therapy have emerged from clinical trials conducted at Nationwide Children’s Hospital in Ohio, which have successfully halted the disease’s progression in animal studies. Human trials are tentatively set to begin in late 2014.
For children like Ava, the urgency of these trials cannot be overstated. Each passing day exacerbates the effects of this devastating disease, which typically leads to irreversible brain damage and loss of speech by age six. For Ava, that milestone is less than two years away. As the condition advances, she will gradually lose her ability to walk and eventually be unable to care for herself as she suffers from severe seizures. Ava’s family holds on to the hope that these clinical trials will provide the much-needed intervention to change her fate.
Without sufficient funding, these critical trials may be delayed, putting Ava and others in similar situations at risk. You can learn more about Ava’s journey and support her cause through various fundraisers. Additionally, for information on home insemination, you may want to check out this post on using an artificial insemination kit, which could be helpful for those considering options for starting a family. For further insights on fertility treatments, visit ACOG’s resource, an excellent guide for prospective parents.
In summary, the fight against Sanfilippo Syndrome is urgent for families like Ava’s. Promising clinical trials offer a glimmer of hope, but financial support is crucial to keep these efforts moving forward. Every moment counts in the race against this debilitating disease.
Keyphrase: Ava’s battle against Sanfilippo Syndrome
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