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A Race Against Time: A Family’s Journey With Their Child’s Sanfilippo Syndrome Diagnosis
Interview
Not everyone is given equal opportunities in life, but even when faced with the most difficult challenges, it’s not the circumstances that define us, but our outlook.
Logan was born in 2007 alongside his twin brother Austin. However, as time went by, their parents began to notice that Logan was falling behind in development in comparison to Austin. Soon after, Logan was diagnosed with Sanfilippo syndrome. As Logan’s mom, Noelle, described: “Sanfilippo syndrome is a terminal, neurodegenerative rare disease. Children lose all the skills they’ve gained such as talking, eating by mouth, walking, and much more. They suffer from seizures and movement disorders, joint pain, and have a short life. The average life expectancy is mid to late teens.” The news was devastating to the whole family.
In 2020, Noelle began sharing their life on social media, raising awareness in hopes that someday there will be a cure, and children born with Sanfilippo syndrome will have a second chance at a normal life.
More info: Instagram | curesanfilippofoundation.org | tiktok.com
RELATED:
Meet Logan Pacl, a teenager battling a rare condition known as Sanfilippo syndrome
Image credits: love_logan07
Sanfilippo syndrome, often referred to as “childhood Alzheimer’s,” has devastating effects on children, shortening life expectancy by up to 20 years
Image credits: love_logan07
In an interview with Bored Panda, Logan’s mom shared their initial reaction to the diagnosis.
“We were devastated. We were told there was no treatment or cure. We had never heard of Sanfilippo Syndrome. We grieved Logan’s future,” wrote Noelle.
Image credits: love_logan07
Logan was born in 2007 alongside his twin brother Austin. However, in 2010, the family received the heartbreaking news about Logan’s diagnosis
Image credits: love_logan07
Image credits: love_logan07
Image credits: love_logan07
Due to his illness, Logan shares distinct physical traits with other children with Sanfilippo, such as bushy eyebrows, a low nasal bridge, and a large, rounded stomach
Image credits: love_logan07
Noelle also explained what they did in hopes of improving Logan’s condition.
“A few weeks after Logan’s diagnosis, we did a lot of research and came across a blog of another mother of a child with Sanfilippo. Her son was in the process of getting an experimental stem cell transplant. At the time (2010), there was nothing else out there to help these children. I got in contact with the doctors at Duke Children’s Hospital, and we ended up getting Logan the transplant. Although it is not considered a treatment, we do believe it has helped Logan.”
Image credits: love_logan07
Image credits: love_logan07
In addition to these physical characteristics, children with Sanfilippo syndrome gradually lose the ability to speak, walk, and eat, often experiencing seizures and sleep disturbances
Image credits: love_logan07
Logan is experiencing an inability to talk. We were wondering how the boy communicates with his family nowadays. Noelle responded: “Logan lost all of his speech by the age of 10. He mainly communicates with body language and sometimes with something called a Picture Exchange Communication System (PECS).”
Image credits: love_logan07
Image credits: love_logan07
While Logan’s cognitive abilities are akin to those of a 9 to 12-month-old, his parents, Noelle and William, ensure he lives a life full of rich experiences and love
Image credits: love_logan07
Image credits: love_logan07
Image credits: love_logan07
Image credits: love_logan07
In 2020, Noelle began sharing their journey on social media, documenting the challenges and joys of being Sanfilippo parents
Image credits: love_logan07
Noelle also commented on her role as a parent, advocating for awareness of Sanfilippo syndrome on social media.
“The main role we play is educators. I answer questions that people have about the disease. But I also share our lives living with Sanfilippo syndrome. I share the struggles and happy moments. All of this is awareness. With such a rare disease, awareness is extremely important. The more people who know about Sanfilippo syndrome, the closer we can come to finding a cure.”
Image credits: love_logan07
Image credits: love_logan07
Logan also has an older sister, Aidyn, though Noelle is mindful of respecting other siblings’ privacy
Image credits: love_logan07
Noelle is on a mission to spread awareness about this illness, hoping that others can receive early diagnoses, while also fighting for a cure to be found
Image credits: love_logan07
Image credits: love_logan07
Image credits: love_logan07
She also hopes to make a lasting impact, ensuring families like hers find support and cherish every moment with their loved ones, just as they do with Logan each day
Image credits: love_logan07
Image credits: love_logan07
Image credits: love_logan07
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What do you think ?
Learner Panda 1 year ago
Cherish the time you have together. I wish you and your family much joy and happiness.
Chewie Baron 1 year ago
I love the picture of Logan with his dad on the sofa, so much love in the dad’s eyes.
Learner Panda 1 year ago
Cherish the time you have together. I wish you and your family much joy and happiness.
Chewie Baron 1 year ago
I love the picture of Logan with his dad on the sofa, so much love in the dad’s eyes.
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