News and information on issues relevant to you as a parent, caregiver, and advocate of a child with Sanfilippo Syndrome.
News From the Foundation
Pace of transformative therapies to overwhelm newborn screening process; experts propose innovations
There has been explosive growth in the number of transformative therapies developed for diseases that must be provided to patients early in life. This makes the need for expanded and updated newborn screening nationwide, which has not kept pace with these medical...
Discovery & validation of translational biomarkers for Sanfilippo childhood dementia
Page reviewed by: Dr. Cara O'Neill, FAAP and Jan Kaslin, PhD Page last updated: February 18, 2022 For web accessibility options: Click/tap the floating blue icon on the right. Grant Summary Institution: Monash University, Victoria, Australia Primary Investigator: Jan...
Book recommendations: Talking to kids about differently-abled people
As a community of differently-abled people, it means so much when folks show love to our children through acceptance and inclusion. (I can speak personally when my daughter Eliza is shown this type of love.) Our children are often vocal, active, and spontaneous...
Podcast Episode 10: Kicking off 2022; upcoming key meeting with FDA; recent grants + more
The year's first (and episode 10) of the Foundation's "A Close Look at Sanfilippo" podcast spends 10 minutes (and a little more in this episode) diving into five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no...
How sharing medical records can advance new treatments | AllStripes partnership
Sharing your child’s journey with Sanfilippo can advance new treatments Because Sanfilippo Syndrome is rare, researchers need more information directly from patients and their families to understand the condition. Your child’s progression, symptoms and health...
Podcast Episode 9: Anakinra Trial update; Collaboration with UNC; other research updates; + more
The Dec. 17, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10 minutes (and a little more in this episode) diving into five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no...
Foundation applauds North Carolina lawmakers for newborn screening legislation
Ealier this month, North Carolina Governor Roy Cooper signed critical legislation that updates the state's newborn screening program. Referred to as "RUSP alignment legislation," the new state law implements a three-year timeline in which the screening must begin for...
5-year-old boy’s phenomenal basketball potential will go unrealized unless a treatment is found for Sanfilippo Syndrome
Simon's family is using a viral video to fundraise for research that could lead to the first-ever approved therapy for Sanfilippo Columbia, SC (Nov. 16, 2021) - Simon Croke from Austin, TX, has been sinking baskets on his Little Tykes hoop like a pint-sized pro since...
Podcast Episode 8: BIG WEEK! World Sanfilippo Day & viral campaign; Trivia Gala; All Stripes; + more
The Nov. 15, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10 minutes (and a little more in this episode) diving into five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no...
Podcast Episode 7: Ideal for FDA’s accelerated approval; guide for newly-diagnosed families; + more
The Oct. 27, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10 minutes (and a little more in this episode) diving into five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no...
Podcast Episode 6: Why a podcast?; Photobiomodulation research; + more
The Oct. 6, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10 minutes (and a little more in this episode) diving into five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no...
Podcast Episode 5: Patient Needs & Culture of the Laboratory; 2021 Step Up fundraiser + more
The Sept. 21, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10 minutes (and a little more in this episode) diving into five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no...
Any developmental delay or intellectual disability calls for genome sequencing
The American College of Medical Genetics and Genomics strongly recommends exome and genome sequencing as a first or second-tier test for children with developmental delay or intellectual disability that occurs by age 18, as well as those with congenital anomalies that...
Using TikTok to spread awareness about Sanfilippo Syndrome
Families seizing new opportunity to create awareness about Sanfilippo TikTok has become a booming social media platform for people sharing all sorts of content, including families of children with Sanfilippo. Many families have grown significant followings as people...
Podcast Episode 4: Teacher worksheet; Sanfilippo on TikTok + more
The Sept. 7, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10 minutes (and a little more in this episode) diving into five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no...
Family Friday Blog: The Howard Family
Get to know the Howard family – Chris, Amanda, Abby, Grace, and Blake!Find out what the past year has been like in their lives with this week’s Family Friday.Get a glimpse into living with Sanfilippo Syndrome through the Howard family's honest and insightful...
Launch of limited edition “Inclusion is Awesome” apparel line
Inclusion is Awesome! Inclusion is powerful. Inclusion is beautiful. Inclusion is important. And the importance of inclusion extends beyond the children and families with Sanfilippo. It matters for everyone. Help tell the world about the importance of inclusion with...
Podcast Episode 3: Free educator guide; Dopamine & reversing Autism behaviors + more
The Aug. 23, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10 minutes (and a little more in this episode) diving into five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no...
Worksheet to help your child’s teacher get to know them quickly
"Dear Teacher, I'd like to help you get to know my child" Parents can complete this worksheet to expedite teachers getting to know their child. Each new school year starts with a ramp-up period of your child's new teacher and support people getting to know them. This...
Advancing the Understanding of Special Education and Therapeutic Needs of Children with Neurodegenerative Disorders
The challenges of the pandemic shined a light on the critical role of special educators and rehabilitative therapists to protect the skills of children’ with neurodegenerative disorders. This academic publication and white paper provides teachers with a guide for...