Four-year-old Emmett Doucette is currently fascinated by firemen, dinosaurs (he has a favorite T-rex toy!), and toy race cars. He’s known to wear a fun fireman outfit and he loves meeting, and spending time with, new people. 

What you might not know about Emmett off the bat is that he also has a rare genetic lysosomal storage disorder called mucopolysaccharidosis type III—also known as Sanfilippo syndrome. 

According to Bryn Levy of the Saskatoon StarPhoenix, Emmett’s parents Andre and Steph first pursued an answer from doctors due to concerns over his speech. Despite him always being such a vibrant and bubbly child, he’s always had more limited speech than other children. After realizing that Emmett also had some other developmental delays, Andre and Steph, alongside doctors, decided to run some tests. 

Eventually, the family paid for genetic testing. They received Emmett’s Sanfilippo syndrome diagnosis just before Thanksgiving. He is only the second known child diagnosed with Sanfilippo syndrome in Saskatchewan, where the family lives. 

Doctors told Andre and Steph that Sanfilippo syndrome does not have a cure and is “life-limiting.” Of course, this was incredibly challenging to hear. But the family has committed to giving Emmett the fullest, best, and most balanced life possible. 

A family friend named Angela is also holding a GoFundMe fundraiser to raise money to support the family. So far, the fundraiser has raised $33,028 CAD (approx. $24,307.72 USD) of its $40,000 CAD (approx. $29,438.93 USD) goal. The money will be used to support treatment and medical costs, future expenses related to treatment or travel, daily needs, and time for the family to connect with their extended family or at somewhere fun like Disneyland. 

Understanding Sanfilippo Syndrome (MPS III)

There are four subtypes of this rare lysosomal storage disorder: types A, B, C, and D. Sanfilippo syndrome results from a genetic mutation that stops the body from producing an enzyme that breaks down a large complex sugar molecule called heparan sulfate. When heparan sulfate is not broken down, it begins to collect in cells, causing cell damage. 

Sanfilippo syndrome is sometimes referred to as childhood dementia because of its neurodegenerative impact. Symptoms often appear within one year of birth, but cognitive decline often worsens between ages two and six. Potential symptoms include:

• An enlarged liver and/or spleen
• Fast breathing after birth
• Developmental delays and/or regression 
• “Coarse” facial features such as a prominent forehead and full lips
• Umbilical or inguinal hernias 
• Recurrent ear and/or sinus infections 
• Sleep disturbances
• Chronic diarrhea 
• Excessive body hair
• Behavioral challenges such as hyperactivity or impulsivity
• Macrocephaly (an abnormally large head size)
• Speech and development delays
• Impaired hearing and/or vision
• Macroglossia (an enlarged tongue)
• Seizures

Current treatments focus on symptom management.