April is Trisomy awareness month so we want you to hear from one of the most out-spoken patient advocates in this space, Sarita Edwards. Sarita is the co-founder of the E.WE Foundation, a charity with the goal of supporting families with a loved one diagnosed with Trisomy 18. Before that she had a son Elijah, who was born with this condition. At the time of Elijah’s diagnosis, very little was known about Trisomy 18 and it was deemed incompatible with life with a life expectancy of only 2 years which resulted in some challenges in getting the proper care. Elijah is now 5 years old and continues to defy the odds that were set against him and his family at the time he was diagnosed.

Today Sarita is working to change the perception of Trisomy 18 among healthcare providers and also supporting other Trisomy 18 families through various programs at the E.WE foundation. You can learn more details at their website.

Stay up to date with Sarita’s work by listening to her podcast series “Being Rare”. Sarita puts out 1-3 minute episodes covering a range of topics that any patient advocate will find interesting.

In 2013, Dr. Ernst and Dr. Gwadry-Sridhar recognized there were gaps in melanoma research. Specifically there was a lack of collaboration that resulted in clinical data being siloed and not shared amongst the research community, which prevents the full potential of this data being realized.

The two came together alongside different cancer centers across Canada to build the Global Melanoma Research Network (GMRN). Today the registry has grown to include over 5000 patients making it one of the largest melanoma patient registries in the world. Dr. Ernst continues to publish findings from the registry every year. While Dr. Gwadry-Sridhar is focused on bringing in additional sponsors to access the data for their own research.

Join us as the two break down why and how they created this collaborative network, as well as where they hope to take it in the future.

A positive mindset is one of the keys to living a happy life. But maintaining optimism in the face of adversity is much easier said than done. Especially when that adversity comes in the form of a rare medical condition diagnosis. However, our guest Dan “Dry Dock” Shockley is here to show you how he stayed positive throughout his battle with colorectal cancer. Dan received his diagnosis following a colonoscopy shortly after his 50th birthday after retiring from a long career in the Navy. Dan immediately shifted his focus to advocating for the colorectal cancer community and became a live case study to help educate both healthcare professionals and medical students. Join Joshua and Dan as they discuss his battle with cancer, how his career in the navy impacted how he approaches his advocacy work and how to always forge ahead with a purpose.

Stay updated with Dan’s work by following him on social media:

• Twitter- @dandrydock
• LinkedIn- @Dan Dry Dock Shockley
• Colon Cancer Prevention Project – https://coloncancerpreventionproject.org/

Motherhood is one of the greatest experiences in a woman’s life, but it comes with many challenges. These challenges only become greater when your child lives with a rare disease. Neuroscientist, geneticist, patient advocate, and Executive Director of the LGS Foundation Tracy Dixon-Salazar experienced this first hand when her daughter Savannah was diagnosed with a severe form of epilepsy called Lennox-Gastaut syndrome (LGS) at the age of 5. Desperate to learn more about her daughters condition and how to manage it, Tracy went back to college and took classes while her children were at school. After 12 years of studying, Tracy earned her PhD in Neurobiology and made it her mission to improve the lives of people living with LGS and for future generations.

Join Joshua as he and Tracy discuss her experience as a caregiver, patient advocate, what a good patient registry looks like and all things real-world data. If you are a rare disease parent, caregiver, advocate or researcher, this episode is a must listen.

Learn more about Tracy’s story and the LGS Foundation here

In this episode of “Real Talk, Real-World Data”, Joshua is joined by freelance content writer and author Lori Straus. Lori has been writing content in the rare disease space for years and has contributed several articles to Pulse Infoframe. On top of her work as an author, Lori also lives with a rare form of epilepsy called Jeavons syndrome that she only recently was diagnosed with after years of uncertainty. Join us as Joshua and Lori break down some of the best practices for patient advocates who want to create compelling written content and discuss Lori’s one of a kind rare disease journey.

On the third episode of “Real Talk, Real-World Data,” Joshua is joined by Ana Mingorance. Since she was a child, Ana has had the goal of curing a disease. She carried this with her into adulthood and sits down to share some insights she has taken away over her 13 years in the industry. Ana is the founder and CEO of Singularity Bio, a biotech startup with the mission to make all complex conditions treatable by developing treatment to induce specific cell states to fight diseases. Prior to this role, Ana was the Chief Development Officer at the Loulou Foundation and Scientific Director at the Dravet Syndrome Foundation in Spain. Ana has spent her career working to make patients a bigger part of drug discovery and drug development by supporting patient groups to be involved in R&D. She has also written a short titled “#ImpatientRevolution” that contains advice and tools for patient groups who are looking to be involved in drug development and clinical trials. The book is free to download and can be viewed here

Ana and Joshua cover a wide variety of topics that range from the challenges and best practices for working with multiple pharma companies on the same study, how patient leadership will evolve to become more important in the future, how to maximize user retention in a registry, the role real-world data amplifying the patients voice and much more. This is the third installment in our series about rare epilepsy. Check out our latest episode and be part of the conversation!

In the second episode of “Real Talk Real-World Data,” our host, Joshua Henderson, is joined by Dan and Patricia Lewi. Dan and Patricia have become leaders in patient advocacy in the Tay-Sachs community after their daughter Amelie was diagnosed with this rare condition at a young age in 2011. Dan and Patricia started the Cure & Action for Tay Sachs (CATS) Foundation only three months after Amelie’s diagnosis and have been instrumental in bringing the disease community together as well as supporting research efforts by establishing a global patient registry and European consortium for Tay Sachs. Dan is also the head of business development and a member of the senior management team at Pulse Infoframe. Joshua, Dan and Patricia discuss their diagnostic journey with Amelie, what motivated them to become so involved in patient advocacy, and best practices for other advocacy groups who want to be part of research.
This is the second episode in our series about rare epilepsies. Thank you for joining us for our second episode, and we are excited to make you part of the conversation.