Liv's Struggle Against Sanfilippo Ailment
In a world where rare genetic conditions often go unnoticed, one TikTok account has become a powerful platform for raising awareness and support. Chaiya Milowic discovered the account "Saving Liv," created by Erin Stoop, whose seven-year-old daughter, Sadie, was diagnosed with Sanfilippo Syndrome at just two years old.
Sanfilippo Syndrome, also known as childhood dementia, is a rare genetic condition affecting one in 70,000 children. Caused by a gene responsible for enzyme production, it leads to an accumulation of complex carbohydrates known as glycosaminoglycans in the body, causing damage to cells and organ systems over time.
Children with Sanfilippo Syndrome typically lose basic skills like speaking and remembering their names by the age of seven. However, Sadie defies these odds, able to speak quite well despite her diagnosis. Tragically, not all children are as fortunate. Haidyn, another child with Sanfilippo, was diagnosed late at the age of five and has completely lost all of her speech.
The regression of skills in Sanfilippo Syndrome doesn't happen overnight, but starts around three years old. By this age, children may begin to show signs of developmental delay, such as difficulty learning new words, sleep disturbances, and behavioural changes.
Erin Stoop, upon learning about her daughter's diagnosis, reached out to the Cure Sanfilippo Foundation to learn more about the disease. They accepted donations to help find a cure for kids like Liv. Currently, there are only two clinical trials for Sanfilippo available in the United States, and they are difficult to get accepted into. These trials involve enzyme replacement therapy, aimed at treating the disorder.
Liv was put on the antidepressant Fluoxetine/Prozac and melatonin to help manage symptoms of Sanfilippo Syndrome. The life expectancy for a child with Sanfilippo Syndrome is 10-20 years old, but with ongoing research and support, this could change.
In an effort to bring families together and discuss the most recent research, the Mucopolysaccharidosis Society hosts annual outings. These events provide a much-needed sense of community for families affected by Sanfilippo Syndrome.
The target participants for early intervention are very young children aged 1-2 as they haven't undergone irreversible brain damage yet. It's crucial to catch the disease early and start treatment as soon as possible.
In Wisconsin, the Katie Beckett Program offers insurance due to Liv's terminal illness, providing immense help for the Stoop family. This programme is a vital resource for families affected by rare genetic conditions, offering financial relief during difficult times.
As the fight against Sanfilippo Syndrome continues, the story of Sadie and the Stoop family serves as a reminder of the importance of awareness, research, and support. Stoop created her TikTok account, "Saving Liv," to spread awareness on Sanfilippo and help other families navigating this challenging journey. Together, we can make a difference.
