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Megan Maack of the Childhood Dementia Initiative shares her experience of being unexpectedly thrust into the world of rare disease when her two children were diagnosed with Sanfilippo Syndrome, and the tools and lessons she utilized in her mission to make a difference and leave a powerful legacy for her children.  Australian native Megan Maack is a dynamic and impactful advocate in the rare disease world. Megan founded and led the Sanfilippo Children’s Foundation in 2013 shortly after her two children were diagnosed with Sanfilippo Syndrome. You would never guess this confident executive has ever felt less than completely in control. But that's not how it works - we all grow. Since 2020, she’s been the CEO (and founder) of the Childhood Dementia Initiative, an organization which seeks to raise the profile of childhood dementia - as a collective - because, as she puts it, “A rising tide lifts all boats”. Megan was a 2021 winner of Australia’s “Impact 25” award. Learn more about the Childhood Dementia Initiative here: https://www.childhooddementia.org/ See below to view the 3-minute clip, in which Megan talks about the "power of the stupid question" and how that has helped her achieve what she's able to achieve, despite a prior professional background that had nothing to do with science or rare disease advocacy. The biggest stupid question is: Why are we looking at these rare diseases in isolation, rather than as a collective?" To view the full conversation with Megan, click below:
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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. 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: |
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Mike Dobbyn, Archives
June 2025
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