Artwork for podcast The SEND Sofa
Rare Disease Awareness Month - Gabby's Story
Episode 926th February 2025 • The SEND Sofa • Tahnee Morgan
00:00:00 00:42:32

Share Episode

Shownotes

In this episode today, Tahnee talks with Gabby Zeppieri, the only adult in the US to be diagnosed with Neutral Lipid Storage Disease Myopathy NLSD-M, a rare genetic condition, where fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy).

One of the reasons why such a small number of patients have been identified is un-awareness or less information of the disease.

https://www.gabbyswonderfulworld.org/

Links

Chapters

Video

More from YouTube