Rare Disease Day

Rare Disease Day was observed this past Saturday, February 29. It is a day to promote awareness of diseases that often go unnoticed by patients and society. By drawing attention to these diseases, we as a culture can gain a better understanding of the facts behind the medical concerns of affected people, as well as gain empathy and insight into our neighbours' lives.

Dyne Therapeutics hosted a Rare Disease Day event.

"The normal is always changing." – Micaela on her life with Joachim

Following is an interview with Molly White, Vice President of Medical Communications and Advocacy at Dyne. representing Dyne Therapeutics.

JL: Where did the Rare Disease Day event take place?

MW: The event took place Saturday, February 29 – Rare Disease Day – at Dyne's offices in Waltham, MA and was attended by members of the Dyne team and their families, along with some board members and a few others in the local community.

JL: Can you tell me what the event included? Were there special guests, speakers, or panels?

MW: The morning kicked off with remarks from Dyne's CEO, Joshua Brumm, who briefly discussed the work our company is doing to develop therapies for rare muscle disorders. Waltham Mayor Jeannette McCarthy and Rep. Thomas Stanley also gave brief remarks around the relevance of Rare Disease Day to the Waltham community.

"Today you're providing three great things: You're bringing family to the workplace, you're providing food and conversation and you're providing hope to families and individuals." - Waltham Mayor Jeannette McCarthy

JL: How did you involve people who do not know about rare diseases?

MW: Joshua led a discussion and audience Q&A with Joachim and Micaela Boekelmann. Joachim lives with a rare muscular disease called myotonic dystrophy type 1 (DM1). You can read a bit about his story on Dyne's website here.

"Myotonic dystrophy is in a way a very invisible disease…people see me and they know “there’s something off…” but they may not know quite what it is... It’s getting worse…every week, every month, every year. Time is really ticking." - Joachim

JL: Can you share a little bit about what it is like to live with a rare disease?

MW: Both Joachim and Mic spoke to the challenges of their personal experience living with DM1 – it's a progressive disorder, so while Joachim currently retains the ability to walk, he does so slowly and with a cane, and is also gradually losing fine motor skills like the ability to eat/dress himself – and the urgent need for therapies. Joachim and Micaela have two children at home in Princeton, NJ, who have a 50% chance of inheriting DM1 from Joachim.

JL: Thank you for highlighting this important day.

MW: As Dyne CEO Joshua Brumm said on Sunday, "These moments where we get to feel what we do every day – they inspire us."