What is Sanfilippo syndrome type B and how does it affect children like Poppy?

Sanfilippo syndrome type B, or 'childhood dementia,' is a rare genetic disorder causing progressive brain damage and shortening lifespan.

What new treatment are the Kempf family hoping for?

The Kempf family is hoping for FDA approval of a new enzyme replacement therapy for Sanfilippo syndrome type B.

How much has been raised for Sanfilippo syndrome research?

Megan Kempf and other families have raised $5.5 million towards new treatments for the rare disease.

Home / Health / Parents Battle Rare Disease Devastating Children's Lifespans

Parents Battle Rare Disease Devastating Children's Lifespans

17 Jan

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Summary

Daughter's drawing regression led to Sanfilippo syndrome type B diagnosis.
Rare disease, dubbed 'childhood dementia,' drastically shortens life expectancy.
Family pins hopes on a new enzyme replacement therapy awaiting approval.

Parents Battle Rare Disease Devastating Children's Lifespans

A family's world was shattered with the diagnosis of Sanfilippo syndrome type B, a rare neurodegenerative disorder impacting their children, Poppy and Oliver. The disease, often referred to as 'childhood dementia,' causes progressive neurodegeneration and significantly reduces life expectancy, often to the late teens or twenties. The Kempf family's journey began with subtle signs in Poppy, a regression in her drawing skills at age three, which eventually led to a genetic diagnosis five years later.

Despite the heartbreaking prognosis and initial advice to prepare for the worst, Megan and Kyle Kempf refused to accept a life without hope. Learning that their infant son Oliver also tested positive for the genetic condition, they actively sought alternative solutions. Their research uncovered a promising enzyme replacement therapy still in clinical trials, which aims to address the enzyme deficiency characteristic of Sanfilippo syndrome type B.