Shannon Moyer McNeil was unable to change her children’s fate in the end. The Northern Virginia native lost her daughter Waverly following her 12th birthday and her son Oliver three years before his 12th birthday due to a rare genetic condition called Sanfilippo syndrome.
“November and December are trying times for my family,” McNeil, who resides in Alexandria, recently shared. These months hold her children’s birth and death anniversaries.
“They were extraordinary,” she shared. “Waverly was our little sunshine. She was very vocal, with a passion for singing and reading. Even after losing her ability to express herself verbally, she memorized numerous books and songs to use as her means of communication.” Waverly’s parents were made aware of her delayed motor skills when she was 3. McNeil recounted how she failed a hearing test and was later diagnosed with the condition.
Oliver later received the same diagnosis. “He was much more energetic than Waverly; he played, rode a scooter and a bike,” McNeil said. “But he was not overly talkative. He was our gentle giant. Once he warmed up to you, he was going to be your buddy for life.”
The name Sanfilippo syndrome elicits different descriptions. The medical community defines it as an inherited disorder that disrupts the breakdown of sugar molecules, damaging organs, including the brain. To families and children grappling with the disease, it’s an unfair condition that takes away more and more.
“It’s a cruel condition that has robbed me of a bright future with my children,” McNeil expressed. The syndrome impacts one in every 70,000 births, with most children not surviving past their teenage years. Families across the U.S. are now eagerly waiting for accelerated FDA approval for treatments to potentially extend the quality and duration of life for affected children.
Jill Wood, who established a nonprofit and a biotech company to help her son and other children with the condition, is among the parents advocating for this accelerated approval. Her son is 15, surpassing the usual life expectancy, and the time to see action is now. The diagnosis came before he turned 2, prompting Wood and her husband to start a nonprofit called Jonah’s Just Begun. They later co-founded a biotech company. However, they are yet to see the FDA grant accelerated approval for treatments.
Wood detailed the effect of the condition on her son, Jonah, emphasizing the urgency for these treatments. The lives of affected children are at stake, and this issue cannot fall on deaf ears. The FDA’s Accelerated Approval Program must play a role in advancing potential treatments.
In an article supporting the need for accelerated FDA approval, Emil Kakkis emphasized the pressing urgency for rapidly diagnosing and treating children with Sanfilippo syndrome. He acknowledged the high costs tied to producing these treatments. Existing treatments may pose risks, yet they offer the possibility of a longer, better quality of life. This prospect warrants taking chances, according to McNeil, the grief therapist and pediatric social worker who is part of the call for accelerated approval. Hope is necessary in light of an otherwise bleak future.
