Raising Awareness of Sanfilippo Syndrome

Sanfilippo syndrome is a neurodegenerative disorder that affects about 1 in 70,000 births. Raising awareness of this rare genetic disease could mean that more patients would benefit from earlier diagnosis and treatment.

Here are some facts about Sanfilippo syndrome, and efforts to make it more widely known.

What is Sanfilippo syndrome?

Mutations in genes that provide the instructions necessary for cells to make essential metabolic enzymes cause a group of disorders known as mucopolysaccharidosis type III (MPS III), or  Sanfilippo syndrome. These enzymes play roles in the pathways for breaking down large sugar molecules called glycosaminoglycans, or GAGs. GAGs are important complex carbohydrates that aid in regulating many biological processes.

Gene mutations lead to GAGs building up inside cells and tissues. These GAGs interfere with cell function in children, causing progressive mental deterioration and loss of mobility.

The symptoms of the disease often appear after the first year of life. A decline in learning ability typically occurs between ages 2 and 6. Delayed development is followed by a progressively worse mental status. Other symptoms may include behavioral problems, sleep difficulties, vision problems, hearing loss, chronic diarrhea, stiff joints, and problems walking. Many Sanfilippo patients may have coarse facial features and an enlarged liver and spleen.

Why is greater awareness important?

Like many other rare diseases, Sanfilippo syndrome remains a severely under-diagnosed or misdiagnosed condition and one that is often misunderstood.

Most physicians and other healthcare professionals have little knowledge about the disease, which can resemble other disorders such as attention deficit/hyperactivity disorder (ADHD) or autism. As a result, many parents can go years without knowing the underlying cause of their child’s symptoms.

The sooner a patient receives a diagnosis, the sooner treatment can begin. This can help maintain or improve the patient’s quality of life.

Greater awareness also tends to bring more research support and funding, which could lead to new and better therapies, and possibly a cure for the disease.

What is World Sanfilippo Awareness Day?

On Nov. 16 each year, supporters bring international attention to Sanfilippo syndrome, with the hope of prompting discussions globally about the community and its needs.

From sharing images on social media and using a special Facebook photo frame, to displaying the official Awareness Day logo and participating in viral challenges, supporters observe the annual World Sanfilippo Awareness Day.

For the 2020 awareness day, supporters were invited to make a sign that states, “What is Sanfilippo? Google it.” They were then asked to post a photo on social media of them or their children holding the sign, using the hashtag #GoogleSanfilippo. The participants also were encouraged to ask others to follow suit. The hope was that increasingly more people would learn about the disease.

A variety of resources and materials, some in multiple languages, are available to download, including an informational handout, logos, a Facebook photo frame, and social media images.

The campaign’s official logo pays tribute to the special bond between a parent and child. Declaring that a child’s hand is more precious to hold than anything else, the campaign is inviting supporters to join the “Hands of Hope” viral challenge. It calls for participants to post on social media a photo of their child’s hands in theirs, and to ask others to do the same. Sample messages are available to accompany the photos for sharing along with the hashtag #WorldSanfilippoDay.

Also available is a Facebook overlay that each participant can use to create a custom image featuring his or her child and share on social media. Awareness Day T-shirts also are available for purchase.

Relatedly, the Cure Sanfilippo Foundation has a standing webpage dedicated to disease awareness. There are informational handouts, a family fact sheet, and educational information for physicians.

Last updated: Oct. 20, 2020

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Sanfilippo Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.