Teen with Sanfilippo Syndrome: Meet Logan Pacl, AKA Childhood Alzheimer's
A mother shares her son's journey with Sanfilippo Syndrome, also known as 'childhood Alzheimer's,' and the challenges and joys they experience daily.
In 2010, Noelle Pacl and her family discovered that her son, Logan, had Sanfilippo syndrome, also known as "childhood Alzheimer's." This rare neurodegenerative disorder is caused by a gene defect and affects the brain and spinal cord. Children with Sanfilippo syndrome lose skills, suffer seizures and movement disorders, and experience pain. The disease is terminal, with a life expectancy in the late teens and no current treatment or cure.
Logan and his twin brother, Austin, were born healthy in 2007, with no indication of any differences. However, as Logan grew older, he began to fall behind his brother in terms of developmental milestones, particularly in speech. Chronic respiratory infections, ear infections, and gastrointestinal problems followed, leading the family to seek genetic testing.
After learning of Logan's condition, Noelle was devastated by the news that it was a terminal disease with no treatment or cure. She felt a lack of information and support from medical professionals, leading her to research and pursue an experimental stem cell transplant for Logan at Duke University. This risky and arduous process aimed to introduce new stem cells that could make the enzyme his body was missing, potentially improving his quality of life.
Despite the challenges, Noelle and her family work tirelessly to maintain Logan's skills and quality of life. Logan communicates using a picture exchange communication system and relies on body language to express his needs. He enjoys outdoor activities, reading books, watching movies, and jumping on a trampoline. His unique sleeping arrangement and the use of a sleep-safe bed help manage his seizures and movement disorder.
Noelle emphasizes that Sanfilippo syndrome is not just a neurological disease but also a full-body disease, affecting children physically as well. The family has focused on keeping life as normal as possible for Logan's siblings, Austin and Aidyn, who have become more compassionate, empathetic, and patient due to their brother's condition.
Noelle began sharing the family's journey on social media to spread awareness about Sanfilippo syndrome. She has received support and encouragement from people worldwide and has even helped other parents get an early diagnosis for the same disease. While she remains uncertain about Logan's future, she is committed to continuing to share their story to raise awareness and advocate for a cure or treatment for Sanfilippo syndrome.
Despite the challenges and uncertainties, the Pacl family is dedicated to making the most of their time with Logan. Noelle acknowledges the difficulty of anticipatory grief but strives to live in the moment and enjoy the time they have with Logan. She emphasizes the importance of dignity and respect for Logan while sharing their journey with the world.