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.
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
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
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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/
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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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