what is a lysosomal storage disease? a metabolic physician from children's hospital of philadelphia (chop) explains

Dr. Rebecca Ahrens (MD), a metabolic physician at Children's Hospital of Philadelphia (CHOP) explains what a lysosomal storage disease is - and why many of them are so hard to cure.

Earlier this year we spoke with Dr. Rebecca Ahrens MD PhD, an attending physician scientist with the Metabolic Disease Program and the Division of Human Genetics at Children’s Hospital of Philadelphia (CHOP).  Dr. Ahrens’ has shown our family exceptional kindness and expertise during our journey.  Her patients are primarily children that have inherited genetic changes—including Sanfilippo Syndrome—that disrupt their biochemical pathway.  Dr. Ahrens treats patients with these diseases, but she’s also focused on developing new therapies to treat them.  Click below for the 3-minute clip of Dr. Ahrens explaining what exactly a lysosomal storage disease is.

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When your cells can’t break down and recycle things, stuff builds up – that’s why ‘storage’ is in the name of the disease"

To watch the full conversation with Dr. Ahrens, click here: