Living in the Light of Rare Diseases

04/15/2025

Today, on International Pompe Day, we honor the resilience and unity of the Pompe community, remember those we've lost to the disease, and celebrate the advancements in therapies and treatments. The ongoing journey with Pompe brings forth stories of strength and transformation, with many individuals expressing that their identity is intertwined with their experience. While embracing this perspective, there remains a crucial call for action.

Enhancing early diagnosis, expanding treatment accessibility, and refining therapies, particularly for infantile Pompe patients, stand as imperative changes that I am excited to see more attention be given to. Addressing societal barriers that unfairly impact individuals reliant on wheelchairs, mobility aids, or respiratory support is essential. It is time to dismantle misconceptions and biases surrounding these vital aspects of daily life.

In memory of Mike Stanzione, who was the first person living with Pompe that I met back in 2012 and became a cherished friend, here is a poignant reminder of the Pompe community's unwavering spirit.

Watch the tribute here: https://vimeo.com/688993254/aaa06bf8e1?share=copya

This is "Mike Stanzione // Tribute Video" by Living in the Light on Vimeo, the home for high quality videos and the people who love them.

04/05/2025

Hands Off Rare! We at Living in the Light were saddened by the news of Peter Marks’ resignation from FDA, knowing that so many people we’ve met and interacted with over the years had seen tangible improvements to their lives because of his hard work, and the hard work of the entire team of regulators, scientists, and patient advocates who have turned the Rare disease drug development space into one of the most important movements in modern healthcare.

This is just the tip of the iceberg. The layoffs this week have been truly heartbreaking. The current administration does not have the best interests of the chronically sick, disabled, or genetically different in mind. Their actions thus far have spoken volumes toward their attitude which can be read as careless, reckless, or outright harmful.

We stand in solidarity with the scientific and patient community. Our work, our information, our funding, and our jobs are all under threat. What I have gotten to know about many of you over the years is that there is a true fighting spirit in the rare disease world. It is time to come together and fight the hobbling of the FDA, the destruction of scientific data, and the lack of compassion for people living with rare disease.

Today, people from all over the US are coming together to declare “Hands OFF!” Hands off our institutions, our healthcare, and our support systems! To find a demonstration near you, visit: https://lnkd.in/e39YWe3S

It is time for the rare disease community to rise up and protect our own.

This link will take you to a page that’s not on LinkedIn

04/05/2025

The mass-firings at the FDA, NIH, and CDC will negatively affect Americans’ health for years to come. The rare disease community, made up of patients, caregivers, foundations, and scientific institutions is having important resources, years of experience in the field, and funding stripped away from it for no good reason.

Come together. Stand up.

Use the hashtag to spread the word and demand action and accountability. Our healthcare system, research institutions, higher education, and broad swaths of social services are all under attack. Share your story. Make it known that you want to see the amazing, unique group of people that make up the rare disease community treated with respect, and let science live. ,

02/13/2025

What role does film play in the narrative movement of patient advocacy for people living with rare diseases? I am glad to be part of this important discussion!

Come join us in Washington DC for the Rare Reels Panel discussion and opening event of RDLA's Rare Disease Week 2025.

It is an honor to have our film Tenacity of Hope selected and to join this important discussion with other panelists about the state of patient advocacy and filmmaking in rare disease today. We wish to inspire the advocates there to take their messages to legislators and policy-makers on Capitol Hill later that week.

We would like to thank the EveryLife Foundation for Rare Diseases EveryLife Foundation for Rare Diseases and RDLA for inviting us to the Rare Reels Panel Monday, February 24, from 5-8pm at the Ronald Reagan Building in Washington DC as part of Rare Disease Week 2025 on Capitol Hill. Also, a big thank you to our partner on this film, Rachel Alvarez, and all our friends at Cure CMD. The Tenacity of Hope, is a documentary that highlights the diverse perspectives and needs of the congenital muscular dystrophy community along with ideas for increased collaboration with the FDA.
Looking forward to seeing many of you there!

What role does film play in the narrative movement of patient advocacy for people living with rare diseases? I am glad to be part of this important discussion!…