Family of 7-Year-Old Girl with Sanfilippo Syndrome or Childhood Dementia Hoping for a Cure

While everyone was in quarantine in 2020 due to the pandemic, the family of Haidyn Fowler, then five years old, had to learn to understand and live with her newly-diagnosed condition. She became sick with a rare condition called Sanfilippo syndrome, which has no known cure and still has a growing body of research to uncover.

Two years on, mom Carrie Fowler told 11 Alive that their journey to finding more answers for Sanfilippo syndrome has been challenging as Haidyn, now seven years old, has started losing her ability to talk. Her condition is also known as childhood dementia or childhood Alzheimer's disease, which means that her health deterioration is expected.

In the show "Good Morning America," Carrie said that Sanfilippo syndrome attacks the brain and the central nervous system. It can trigger anything to go wrong with the body.

Since the disease has no Food and Drug Administration (FDA)-approved cure, the Fowler family has been working harder to conduct awareness campaigns and raise funds to help with the research. They are hoping therapies would be developed to improve the quality or extend the life of Haidyn, if not cure her disease altogether. So far, the family has raised more than $8,000.

Read Also: Father With Sick Daughter Learns He Has Incurable Neurofibromatosis After Doctors Saw Their Birthmarks

Sanfilippo syndrome: The causes and symptoms

According to the Boston Children's Hospital, Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic lysosomal storage disorder. The lysosomes are protein enzymes that break down the fats and sugars in the body, but a disorder will cause them to dysfunction.

In 1963, Dr. Sylvester Sanfilippo, a pediatrician, first described the disease in medical journals, thus the name. 

Children who have Sanfilippo syndrome likely inherited defective genes from their parents. However, the parents won't know their child's condition until early childhood, as in the case of Haidyn, who was born as a perfectly healthy baby.

However, as she grew and developed, Haidyn failed to reach some milestones typical for babies. Her mother said she has the mental capacity of an 18-month-old baby as a 7-year-old. She has also been experiencing near-constant pain and has a long list of health issues since her symptoms appeared.

Sanfilippo syndrome may cause any of the following: seizures, movement disorders, developmental regression, intellectual disability, certain behaviors in the autism spectrum disorder, enlarged head and tongue, arthritis, visual impairment, hearing loss, frequent respiratory infections, and chronic diarrhea. The lifespan of a child with Sanfilippo syndrome is between 10 to 20 years.

Hope for Haidyn

On their fundraiser page, the Fowler family expressed hope that their daughter will live beyond her teenage years. While significant research is ongoing, Haidyn's parents said they want to focus on letting their child know that her family deeply loves her.

Their hearts are hurting because no loving parent wants to lose their child, but they also have plenty of realizations while tending to Haidyn's care. Carrie said they are fighting a lot harder for her daughter, who has been teaching them about not taking things for granted.

Relate Article: 1-Month-Old Baby Dies of Parechovirus; Heartbroken Connecticut Family Warns Other Parents