News and information on issues relevant to you as a parent, caregiver, and advocate of a child with Sanfilippo Syndrome.
News From the Foundation
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...
Podcast Episode 2: In Memory of Reagan; New testing created; $1M granted for 5 new projects + more
It's been just two weeks since the last episode of the Foundation's "A Close Look at Sanfilippo" podcast, and there's already so much to share! The podcast's 10 minutes dives into: The life and importance of Reagan McGee; How your support of the Foundation helped...
Family Friday Blog: The Means Family
Get to know the Means family – Mike, Jen, Abigail and Sadie!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 Means family's honest and insightful perspective. The...
Family Friday Blog: The Bergh-Hansen Family
Get to know the Bergh-Hansen family – Rasmus, Katrine, Molly, and Pelle!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 Bergh-Hansen family's honest and insightful...
Family Friday Blog: The Pearson Family
Get to know the Pearson family – Bruce, Cybill, Simone, Joana, and Solomon! 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 Pearson family's honest and insightful...
New enzyme assay testing method for Sanfilippo created with Foundation funding
A New and Improved Testing Option for Evaluating Potential Drugs for Sanfilippo In the fight to cure Sanfilippo syndrome, a key basic requirement is to be able to measure critical substances and to do so as accurately, easily, and inexpensively as possible. The study...
Cure Sanfilippo lends support to multiple provisions of Cures 2.0 Act
The 21st Century Cures 2.0 Act legislation from U.S. Representatives Diana DeGette (D-Colorado) and Fred Upton (R-Michigan) could have a profound impact on the speed of therapy development and diagnostic access for patients with rare diseases. "Many organizations have...
Family Friday Blog: The Sink Family
Get to know the Sink family – John, Katharine, Declan, and Zane!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 Sink family's honest and insightful perspective. The...
Family Friday Blog: The Koch Family
Get to know the Koch family – Matt, Julie, Alex, and Jaxson! 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 Koch family's honest and insightful perspective. The...
Cure Sanfilippo agrees: The need to use surrogate biomarkers in an accelerated drug approval pathway for diseases like Sanfilippo
A powerful article from Dr. Emil D. Kakkis outlines the critical need for use of surrogate biomarkers in an accelerated drug approval pathway for diseases like Sanfilippo syndrome. In the article, "Aduhelm’s accelerated approval offers a promising roadmap for rare...
Family Friday Blog: The McKenzie Family
Get to know the McKenzie family – Kirk, Erica, Garrett, Reagan, and baby Ava on the way! 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 McKenzies family's honest...