This syndrome is called Alzheimer's for children, and it's a parent's worst nightmare - Solace & Sanfilippo
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Raising Awareness of Sanfilippo Syndrome
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.
A case report of Sanfilippo syndrome – the long way to diagnosis
The diagnostic delay is even more prolonged in this patient population with comorbidities and a slowly progressive course of the disease. MPS III is a diagnostic challenge, particularly in the early stages and in patients with an attenuated course of the disease, due to a variable course, nonspecific early neuropsychiatric symptoms and the lack of obvious somatic features.
Believe In Gianna
I walked into our bedroom and closed the door. “They found something on G’s genetic results! It’s called mucopoly something and we have to get some tests run tomorrow to confirm it. She told me not to google it though. Weird. Let me look it up really quick.” And then I Googled it.
Elena Barreiro Cienfuegos: Sanfilippo Syndrome
Children with Sanfilippo syndrome lack an enzyme that breaks down long chains of molecules that build connective tissues. The molecules build up in the cells instead of break down, causing progressive brain damage.
How Does Sanfilippo Syndrome Differ From Other MPS Types?
While Sanfilippo syndrome primarily affects the central nervous system, other types of MPS affect many tissues and organs, and can be caused by mutations in the IDUA, IDS, ARSB, GUSB, and GNPTAB genes that encode for other enzymes important in waste clearance. Like Sanfilippo syndrome, the symptoms can vary between patients, even those with mutations in the same gene.
How one family went from a devastating Sanfilippo diagnosis to advancing science
Isla's participation in the gene therapy trial lasted two years, coming to an end in December 2019. She had some initial improvements in her speech, but her progress plateaued, and her anxiety increased rapidly. But her involvement helps researchers understand more about the condition and how it responds to gene therapy treatment, especially in older patients.
Miriam’s Journey with MPS IIIB
These syndromes are not typically apparent at birth but develop throughout childhood, causing developmental regression, progressive intellectual disability, behavioral problems and other symptoms. All MPSIII syndromes present similar signs and symptoms, though often less pronounced than other types of mucopolysaccharidosis. Physical features can include “coarse” facial features, a large head, enlarged livers, hernias and skeletal abnormalities.
It completely took my breath away. I felt my body melt into the floor. There is no correct way to process being told that your child has a fatal degenerative syndrome.
When Disease Takes Your Children
Sanfilippo Syndrome is characterized by a missing enzyme. This particular enzyme breaks down a specific sugar molecule. Since it is not broken down, it builds up throughout the body and especially in the brain. Kids typically develop normally for the first few years and then begin to plateau, before losing all skills. Eventually they lose the ability to talk, walk and swallow. The neurologists told us there was no cure, no treatment, some clinical trials were being talked about. They advised us to enjoy the time we were given and make memories. I felt our world grow ever smaller with the words “rare fatal disorder.”
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.
Cure Sanfilippo Foundation
To advocate for and fund research directed towards a cure and treatment options for patients with Sanfilippo Syndrome.
Sanfilippo Children’s Foundation
With your help, we hope to raise awareness of Sanfilippo Syndrome in the medical world, wider community and ultimately drive the research that will one day lead to a world without Sanfilippo Syndrome.
This site is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment.
Solace & Sanfilippo
Follow our journey, as we navigate life after a Sanfilippo Syndrome diagnosis. Our goal is to live each day to it's fullest, and create lasting memories for our children.
Team Sanfilippo Foundation
Team Sanfilippo Foundation is a non profit medical research foundation founded in 2008 by parents of children with Sanfilippo Syndrome. Our mission is to fund potential therapies that can be in clinical trials in the near future. We support Biotech, pharmecutical and research centers with potential therapies that are underfunded and provide assistance with connecting families to companies that need information for ongoing clinical work.
National MPS Society
MPS III is a mucopolysaccharide disease also known as Sanfilippo syndrome. It takes its name from Dr. Sylvester Sanfilippo, one of the U.S. doctors who described the condition in 1963.
Waylon’s Warriors: His journey with Sanfilippo Syndrome
Waylon has a terminal rare genetic disease that currently has no cure or treatment.
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Last Updated : Friday, September 23, 2022