Olivia Ellinor Stoop – Age 3
In March of 2022, Olivia was diagnosed with Mucopolysaccharidosis Type 3 B, also known as Sanfilippo Syndrome. It is a rare, fatal, genetic disorder, caused by a missing enzyme. Olivia is lacking an enzyme required to break down a toxic waste in her body. So, although Olivia was born “healthy,” that toxic waste has been accumulating since she was born. It affects all of her organs, including her brain. She will slowly lose the ability to talk, walk, and feed herself. It’s often referred to as childhood Alzheimer’s. She will enter a phase of behavioral issues including hyperactivity and insomnia, as well as suffer seizures. She will likely peak cognitively at the approximate age of 2-6, then regress. Life expectancy is mid to late teens.
There is currently no cure, no open clinical trials, nor any medication that has proven to slow down its progression. There have been recent advancements in science, and treatments are available for similar conditions that include enzyme replacement and gene therapy. With enough funding, Olivia's family is confident that a cure is around the corner. This disease is rapidly progressing, and the damage done is not reversible. So time is of the essence. Right now, Olivia is considerably far behind her peers in speech and her motor skills. They are working hard with her on speech, physical therapy, occupational therapy, as well as seeing multiple specialists, in order to make sure she continues to gain as many skills as possible, while they await the hopes of a clinical trial starting.
Olivia’s mom was 35 weeks pregnant with their second child, Liam, when they got Olivia’s diagnosis. Liam had a 25% chance of also having Sanfilippo Syndrome. After many weeks of prayers, his results came back, and he does not have it. They are striving to not only give Olivia the best life possible, but also make sure Liam’s needs are addressed too.
Olivia is fun, sassy, very loving, high energy and emotional. And she is loved dearly. If you have the opportunity to meet her, she will be sure to brighten your day. She loves to sing, play at the park, help take care of her baby dolls, and watch Dora the Explorer. But above all things, she adores her mom, dad, grandma (x2) and grandpa (x2), brother Liam, dog Remy, Uncle Jeff and Aunt Sarah, Uncle Darren, Aunt Traci and cousin Sunny.
While Olivia's family's desire was for all money raised for this charity event to go directly to Cure Sanfilippo Foundation, Porcaro Family Charities will distribute 50% of this years outing proceeds to go directly to their family for medical needs that are likely to arise in Olivia’s lifetime and the remaining proceeds will be donated to Cure Sanfilippo Foundation. We are forever grateful for this opportunity to share Olivia’s story.
