Today I spoke to our legislators about the #STATact which would help accelerate treatment options for rare and ultra-rare diseases. 30 million people in the US are affected by rare diseases. This bill could help save Aubrieโs life one day ๐ #EveryVoiceMatter#RareDC2021
We are excited to be attending the virtual #RareDiseaseWeek on Capitol Hill with @EveryLifeOrg! This is a great opportunity to represent the Mito ARS genes with legislators. Families from all over the country gather to advocate for policy change! #CureARS#RareDC2021
๐๐๐ฏ๐ฟ๐ถ๐ฒโ๐ ๐๐ฒ๐ป๐ฒ๐๐ถ๐ฐ ๐ฉ๐ฎ๐ฟ๐ถ๐ฎ๐ป๐๐-
Aubrie has 2 genetic variants on the AARS2 gene. This is a recessive disorder on her nuclear DNA.
If you are reading this and there is someone in your family that has a similar mutation on the AARS2 gene, please contact us -
Mitochondrial diseases are often under-recognized and misunderstood. Mito University provides patients, families, caregivers and clinicians with the resources, facts and knowledge to better navigate their journey. Visit Mito U today https://t.co/LvJBaTNCfV
Aubrie is the youngest with her specific genetic mutation to show symptoms. However, we are hopeful that this was caught early, and we can take steps to try and prevent symptoms or inadvertently make symptoms worse.
#mitoawareness#mitokid#mitowarrior#mitochondrialdisease
By becoming a regular giver you can bring hope & positive change to the lives of people with #mitochondrialdiseases - families like Jessica's. Find out how you can make a difference today: https://t.co/Ix9oCpwPC0 #lilyfoundation#fuelforlife