Rare Disease & Treatment Delays: Hope for Sanfilippo syndrome

How do FDA delays impact Rare Disease?

In this heartfelt interview, Abby Milburn shares her journey as a mother of a child with Down syndrome and Sanfilippo syndrome, a rare neurodegenerative disease. She discusses diagnosis challenges, advocacy efforts, and the importance of research and policy changes to support children with rare diseases. 

Keywords: Sanfilippo syndrome, Down syndrome, rare diseases, medical advocacy, genetic testing, FDA approval, gene therapy, medical research, advocacy, rare pediatric treatments

Key Topics:

• Sanfilippo syndrome diagnosis and symptoms

• Challenges in medical advocacy and policy

• The role of genetic testing and family history

• Impact of FDA approval process on treatments

• Importance of awareness and community support

Guest Bio: Abby Milburn is a wife and stay at home mom to four children 5 years old and under. Her oldest daughter, Lottie, is extremely unique as she has both Down syndrome and Sanfilippo Syndrome.

Lottie’s Cure Sanfilippo Foundation Page: https://give.curesanfilippofoundation.org/campaign/lottie-milburn-or-fighting-to-cure-sanfilippo/c716615

Instagram and Facebook handle: @letssavelottie

Here are more resources related to today’s topic:

• Lottie’s Cure Sanfilippo Foundation Page: https://give.curesanfilippofoundation.org/campaign/lottie-milburn-or-fighting-to-cure-sanfilippo/c716615

• Cure Sanfilippo Foundation: https://curesanfilippofoundation.org/

• Senate Hearing Special Committee on Aging: From Regulator to Roadblock: How FDA Bureaucracy Stifles Innovation

• UX111 Gene Therapy for Sanfilippo syndrome type A

• Ask Congress to urge the FDA to take swift action on rare disease treatments

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