BLOG ONE - Sanfilippo Syndrome

 

Sanfilippo Syndrome: Blog Post One
By Jacqueline Polaczyk 

What is Sanfilippo Syndrome? 

Sanfilippo Syndrome is a rare, inherited disorder, also known as mucopolysaccharidosis type III. 

It is a terminal neurodegenerative rare disease that causes children to lose all skills they have gained, suffer seizures and movement disorders, and often is fatal before children reach their second decade of life. (Boston Children's Hospital, n.d.)

Haidyn Fowler, 7, has had Sanfillipo since birth. 

leaving her in near-constant pain and unable to speak.

Sanfilippo Syndrome affects 1 in every 70,000 births. It is a rare disease, that unfortunately has a 100% mortality rate. Children are typically diagnosed later in their childhood (3-5) as symptoms progress, and typically only live into their teens or early 20's.

Diagnoses can either be attenuated (less severe) or severe. Less severe cases usually manifests later in childhood and progresses slowly. Severe will manifest early and progresses rapidly.

Symptoms and Prognosis

Symptoms of Sanfilippo Syndrome include similar certain features of autism spectrum disorder and difficulty with communication and social skills, seizures, developmental regression, sleep disturbances, mildly coarse facial features (such as thick, prominent eye-brows) behavioral problems, and symptoms that may develop overtime such as visual impairment and enlargement of the liver and spleen. 

Many suggest that the symptoms resemble dementia or Alzheimer’s disease due to the memory loss that continues to deteriorate, however, it is much different due to how Sanfillipo also attacks the central nervous system, attacks the brain, and deteriorates the body. 

There is currently no approved therapies to reverse these effects. The largest plan of action continues to be comfort care for the child. (Edens Hurst, MD 2023)

Logan Pacl, 15, suffers from Sanfilippo Syndrome, his mom explains that he was speaking at 4, and despite 
speech therapies, he now only communicates through PECS (Picture Exchange Communication System.) (Pacl, 2023) 

Progression and Digression of Sanfilippo Syndrome 

From birth to 4, most neurotypical children will be crawling, walking, saying some of their first words and using simple sentences. Once Sanfillippo Syndrome is diagnosed, 4-10 years old can bring in a lot of heartache, such as loss of most words, developmental delays being noticed, extreme sensitivity. Because of the lack on enzymes, their bodies are unable to breakdown heparan sulfate, a natural cellular waste. Their bodies and brains instead are then clogged with toxic levels of this, and causes digression and ultimately, death. (Lefroy, E. 2022, July 22)

Developmental Progession graph with a neurotypical child and a child with sanfillippo. (What is Sanfilippo Syndrome: Cure sanfilippo foundation, 2023)

Life with Sanfillippo: Challenges and Strides     

 

Several parents have created blogs for their child that suffers from the irreversible diagnosis of Sanfilippo Syndrome. From the moment they learned what it was to now, many parents are speaking out to help others understand what they are experiencing with this very rare account. 

Noelle Pacl, mother of 15 year old Logan, writes on her blog post: "We are definitely not a typical family... Our family spends a lot of time at doctor offices, and hospitals... Because Logan is older, the hardest part for us is knowing that our child is dying and there is nothing we can do to stop it." (Pacl, 2023)

Jennifer Sarkar, mother of  10 year old Carter, writes: "Due to Sanfilippo, Carter has incontinence, behavioral problems, sleep disturbances, meltdowns, and in constant pain. Although my son is only ten, what he has taught me in his short time here is immeasurable... As you can imagine going out in public takes time and planning. Even the trip to the grocery store requires us to pack up all our just-in-case items because, as any family living with a disability will tell you, we've learned a thing or two in this world, and one thing we all live by the old boy scout motto of, 'be prepared.'"  (Sarkar, J. (n.d.). Carter’s Challenge)

There are also 3 stages to Sanfilippo Syndrome. 

• Stage One: 2-4 years - Early mental and motor skill development may be delayed. Decline in learning,  eventual loss of language skills and some loss of hearing. This is a very hard age group to diagnose as children to not appear to have delays. 
• Stage Two: 5-10 years - Aggressive behavior changes, irregular sleep, memory loss. 
• Stage Three: 10+ years - Nearly unable to walk. Growth in height will slow or stop completely. Most children are nonverbal by this time. (James Madison University Graduate Psychology 2024)

History of Sanfilippo Syndrome 

Sylvester J. Sanfilippo, MD AKA, Dr. Sylvester (Sy), was a U.S. doctor who was a medical researcher and a lecturer at the University of Minnesota Medical School. Dr. Sanfilippo's research led to his identification in 1963 of a rare and fatal genetic disease now known as Sanfilippo Syndrome, named after himself, of course. (Sylvester Sanfilippo Obituary (2013) - legacy remembers) He first describe the enzyme defect that causes the disorder. He first presented this information in 1963 at the annual meeting of the American Pediatrics Society. 

Until recently, the common diagnostic genetic test was a chromosomal microarray that could detect approximately 15-20% of cases with genetic basis. Newer technologies are being developed that allows DNA test to become a first-line diagnostic tool. 

Though the diagnoses is not curable, treatments are in place to create a comfortable life. Enzyme replacement therapy are given IV infusion that provides an external source of the enzymes. Unfortunately, this needs to enter directly into the brain. New technology has 

allowed that to happen via spinal canal. 

(National MPS Society, A guide to understanding sanfilippo syndrome n.d.)

Sylvester J. "Sy" Sanfilippo, M.D. 

Citations: 

Sarkar, J. (n.d.). Carter’s Challenge . Jen’s Blog. https://carterschallenge.com/jen-s-blog/what-would-make-the-world-more-accessible 

Pacl, N. (2023a, March 3). Our story with Sanfilippo Syndrome: Logan Pacl family. Cure Sanfilippo Foundation | Accelerating discovery of a cure for Sanfilippo Syndrome. https://curesanfilippofoundation.org/meet-the-families/logan/ 

James Madison University. (2024, May 3). Comprehensive directory of mental health resources ~ counseling program ~ Graduate Psychology ~ CHBS. James Madison University Psychology . https://www.jmu.edu/chbs/gradpsyc/counseling/cdhms.shtml 

National MPS Society. (n.d.). A guide to understanding sanfilippo syndrome. A Guide to Understanding MSP III. https://mpssociety.org/wp-

content/uploads/2021/06/MPS_III_Sanfilippo_Syndrome_Final.pdf 

Sylvester Sanfilippo Obituary (2013) - legacy remembers. Legacy.com. (n.d.). https://www.legacy.com/us/obituaries/legacyremembers/sylvester-sanfilippo-obituary?id=24630224 

Lefroy, E. (2022, July 22). 7-year-old’s “childhood dementia” leaves her in constant pain, unable to speak. New York Post. https://nypost.com/2022/07/21/my-daughter-7-has-childhood-dementia-but-she-still-smiles-laughs-loves-life/ 

Cure Sanfilippo Syndrome. (2023, December 12). What is Sanfilippo Syndrome: Cure sanfilippo foundation. Cure Sanfilippo Foundation | Accelerating discovery of a cure for Sanfilippo Syndrome. https://curesanfilippofoundation.org/what-is-sanfilippo/ 

Pacl, N. (2023b, March 3). Our story with Sanfilippo Syndrome: Logan Pacl family. Cure Sanfilippo Foundation | Accelerating discovery of a cure for Sanfilippo Syndrome. https://curesanfilippofoundation.org/meet-the-families/logan/ 

Anna C. Edens Hurst, MD. (2023, April 24). Sanfilippo syndrome. Mount Sinai Health System. https://www.mountsinai.org/health-library/diseases-conditions/sanfilippo-syndrome 

Boston Children’s Hospital. (n.d.-a). Sanfilippo syndrome. Sanfilippo Syndrome. https://www.childrenshospital.org/conditions/sanfilippo-syndrome