Illinois Family's Heartbreaking Journey with Sanfilippo Syndrome
Megan Kempf and her husband Kyle from Illinois are parents to two children, Poppy, aged 9, and Oliver, aged 2, who both suffer from a devastating condition known as Sanfilippo syndrome. This rare genetic disorder is often referred to as childhood dementia due to its progressive cognitive and motor decline.
"Life is taken away from these children before they even have a chance to live it," Megan told PEOPLE magazine, capturing the emotional toll of the disease. She describes how her elder daughter, Poppy, has transformed dramatically over the years. "She used to love helping in the kitchen, dressing her dolls, helping her daddy in the yard, playing in the pool. None of those things happen anymore."
Regarding her younger son, Megan adds, "And Oliver, we know, is already fighting against his own body, but is a seemingly normal, bright, hilarious little boy. No one would expect that anything is wrong with him, let alone that he’s already battling a terminal illness." In November, the couple shared an emotional video on Instagram documenting the daily lives of Oliver and Poppy, coinciding with World Sanfilippo Day observed on November 16.
Understanding Sanfilippo Syndrome: The Medical Perspective
Dr. Ritu Jha, Director & HOD - Neurology at Sarvodaya Hospital, Sector-8, Faridabad, explains that Sanfilippo syndrome, medically termed Mucopolysaccharidosis type III (MPS III), is a rare genetic metabolic disorder. While it's commonly called childhood dementia because it mimics the cognitive decline seen in Alzheimer's disease, Dr. Jha emphasizes that the two conditions have distinct biological causes and cannot be used interchangeably.
"Essentially, Sanfilippo Syndrome is a lysosomal storage disease," says Dr. Jha. "A normal body has a way of disposing of its wastes through the 'recycling stations,' or lysosomes. However, a child suffering from Sanfilippo Syndrome cannot degrade a type of long-chain sugar molecule named heparan sulfate."
This inability to eliminate heparan sulfate leads to its gradual accumulation within cells until it reaches toxic levels. This buildup causes permanent and progressive damage to the central nervous system and the brain, resulting in the debilitating symptoms associated with the syndrome.
Genetic Causes and Types of Sanfilippo Syndrome
The condition is entirely genetic and follows an autosomal recessive inheritance pattern. This means a child must inherit one copy of the defective gene from each parent to develop the syndrome. The biological malfunction occurs due to a deficiency in one of four specific enzymes required to degrade heparan sulfate.
Depending on which enzyme is missing, Sanfilippo syndrome is categorized into four types:
- Type A: The most common and often most severe form.
- Type B, C, and D: Caused by different enzyme deficiencies but resulting in similar clinical outcomes.
Progression Stages and Warning Signs
According to Dr. Jha, Sanfilippo syndrome progresses through three distinct stages, culminating in complete physical dependence:
- First Stage (1-4 years of age): Children may exhibit minimal speech delays or subtle physical changes like a broad forehead or heavy eyebrows. These early signs often lead to misdiagnosis as other developmental delays or frequent ear infections.
- Second Stage (5-10 years of age): Characterized by significant behavioral and cognitive decline. Accumulation of cellular waste in the brain triggers extreme hyperactivity, sleep disturbances, and loss of previously acquired skills such as language or toilet training. This dementia-like phase is particularly challenging for families.
- Third Stage: Hyperactivity subsides, replaced by loss of motor function. Children eventually lose the ability to walk, swallow, and move independently, requiring full-time palliative care as bodily systems fail.
Diagnosis Challenges and Current Treatment Landscape
"Sanfilippo syndrome is often misdiagnosed due to early signs like speech delays and hyperactivity that can be seen in other common conditions, such as Autism or ADHD," notes Dr. Jha. It is typically only when physical coarsening of features or significant developmental regression occurs that metabolic testing is performed.
Currently, there is no cure for Sanfilippo syndrome. Treatment focuses on palliative care to manage symptoms like sleep disturbances and seizures, along with physical therapy to maintain mobility as long as possible. However, hope exists on the horizon. Several clinical trials are exploring innovative treatments using gene therapy and enzyme replacement. These experimental approaches aim to repopulate the brain with the missing enzymes responsible for the condition.
The Kempf family's story highlights the urgent need for increased awareness, early diagnosis, and advanced research into this rare but devastating childhood disorder.
