Removing Barriers in Ultra-Rare

ENERGY IN ACTION – EPISODE 044

Removing Barriers in Ultra-Rare

Joining me in this episode are Desiree Magee & Ashley Rowland of CureARS, a non-profit organization dedicated to spreading awareness, connecting & providing support to affected families and funding research for the ultra-rare Mitochondrial ARS genes.

EPISODE HIGHLIGHTS

Desiree, can you introduce yourself and tell us how you’re connected to the mitochondrial disease community?

My 6 year old daughter Daphne was diagnosed at a year old after a six month diagnosis journey. My daughter’s disease has two names- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) and Combined oxidative phosphorylation deficiency 12 (COXPD12). Daphne is primarily affected by speech delay, hypotonia, and global delays in learning and performing everyday tasks.

Ashley, can you introduce yourself and tell us how you’re connected to the mitochondrial disease community?

My daughter Aubrie is three and a half years old and she has a disease called leukoencephalopathy with ovarian failure (LKENP) from the AARS2 gene. She was diagnosed at 2 years old.

Can you share about Cure ARS?

It started as discussions around how we could raise money for research and how we could help our kids and other families. In order to fund a research project, we started the nonprofit. Our mission is to spread awareness, connect and provide support to affected families and fund research for the ultra-rare mitochondrial ARS genes in order to pave the way to suitable treatment options and ultimately a cure.

Can you share details about the symposium coming up in February?

The Mitochondrial ARS (Mt-aaRS) Genes Annual Scientific Symposium is a one day event on February 10, 2022 and will feature world-renowned doctors and researchers. The goal of the symposium is to bring worldwide collaboration between researchers and clinicians to build a stronger working relationship and put patient faces to the data and the impact they’re making.

Does Cure ARS have a patient registry?

We have a registry through CoRDS at Sanford Health, which will be launching soon.

RESOURCES & LINKS MENTIONED

Daphne’s Lamp

https://www.daphneslamp.com/

Cure ARS

https://www.curears.org/

Cure ARS on Facebook

https://www.facebook.com/curears

Mitochondrial ARS (Mt-aaRS) Genes Annual Scientific Symposium

https://www.curears.org/symposium

ARS Gene Community