Bonus-Rare Disease & Treatment Delays: Hope for Sanfilippo syndrome

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/
• 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

 

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

 

Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

 

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.