Unexplained epilepsy seemingly sounds self-evident, but it encapsulates so much more.
Swipe through for 4 key things to know about unexplained epilepsy, and how exome testing can bring you or someone you love closer to diagnosis.
Are you joining us for the RARE Advocacy Summit, Sept. 19-21? Make sure you stop by and say hi to our exhibitors! If you aren't able to join us in person, tune in to our livestream: https://t.co/6iGp2OsV8o
#WeekinRARE#RAREAdvocacySummit#GGSummit23#SanDiego#RAREDisease
Enzyme replacement therapy (ERT) is a treatment that replaces the missing or deficient GAA enzyme, helping to break down glycogen and prevent muscle damage. #PompeDisease#RareDisease#PompeDay
International #Pompe Day is April 15.
Having #PompeDisease doesn’t make you different. We’re all different! Shared by the Pompe community and brought to life by inspired artists. You can share your own experiences and wisdom by using the tag #PompePearls. #PompeDay#RareDisease
This #FabryAwarenessMonth, we’re sharing stories from women living with #FabryDisease to raise awareness of the impact it can have on mental well-being.
For Christy, a lack of awareness and understanding of the disease led to feelings of self-doubt.
Baseball legend Bernie Williams, formerly of the New York Yankee (and currently a jazz musician), discusses his advocacy work to raise awareness of interstitial lung diseases, including idiopathic pulmonary fibrosis #IPF#checkrare@boehringerus
https://t.co/CLO6ZGHZUU
“By 2030, it is estimated that at least 30 non-oncology gene therapies will be approved in the United States alone. These therapies could be used to treat up to 50,000 patients annually & have the potential to result in major shifts in disease management.”
https://t.co/vPTTow1eCl
A neat sight on today’s dog walk. #DisabilityRights#DisabilityHistoryMonth
CC: Sign in front of church that reads: “Dignity rights & wellbeing for persons with disabilities.”