Search results for #raredisease
Great story in 20 Sense profiling some of the #Changemakers in Canadian Specialty Healthcare including my daughter Madi Vanstone. Despite the challenges fighting Cystic Fibrosis for 22 yrs she has managed to spend 1/2 her life advocating of others. #raredisease
At times, it can be confusing if a child has development delay to recognize a serious problem. Sometimes, it is even confusing to recognize loss of skills while skills are developing. See a geneticist ASAP if you are concerned. curegm1.org/about-gm1-gang… #curegm1 #raredisease
The Penn RP Fund helps researchers pursue important projects to examine the causes of and potential treatments for RP, and it helps patients receive outstanding personalized clinical care. Learn more: polychondritis.org/research-initi… #raredisease #autoimmunedisease
"🎗️ Today is AMKD Awareness Day! Let's join hands to raise awareness about AMKD (A Rare Genetic Disorder). Together, we can spread knowledge, support affected individuals, and work towards a brighter future. 💙💪 #AMKDAwarenessDay #RareDisease #Support"
Companies shelve the drug, drop investment in Sanfilippo altogether, or go bankrupt and dissolve. As has been the case in six clinical-stage therapies in the last seven years. #raredisease @DrCaliff_FDA curesanfilippofoundation.org/2023/12/a-stat…
Mom of rare “We just need the FDA to break down the barrier to the accelerated approval pathwayand do so in time for this generation of children. If the agency continues to subject promising treatments to a standard that is not achievable #raredisease curesanfilippofoundation.org/2024/01/a-doct…
Check out this summary of Virtual Events happening this month! For more information, checkout buff.ly/3QoOjD0 #hdreach #ReachForHope #ReachingForHope #curehd #curejhd #raredisease #huntingtonsdisease #hd #jhd #huntingtons #letstalkabouthd
The Brazilian Health Regulatory Agency (ANVISA) has approved #berotralstat (#Orladeyo®) for the prophylaxis of hereditary angioedema (HAE) attacks in adults and pediatric patients aged 12 years and older. Read more: brnw.ch/21wJkNW #RareDisease @BioCrystPharma
There seems to be a significant link between clinical metrics and performance on the Cerebellar Cognitive Affective Syndrome Scale (CCAS-S) in patients with Friedreich ataxia, as per a study published in the journal Cerebellum. Read more: brnw.ch/21wJkA8 #RareDisease
If you're at the Rare Drug Development Symposium today and tomorrow, connect with the Foundation's Lea Ann Browning-McNee during expert office hours. #RDDS #CareAboutRare #RareDisease
New federal funding will support construction of a modern expansion of the JAX Rare Disease Translational Center, helping to streamline the #raredisease journey from diagnosis to therapy: bit.ly/3xjaSlR
Sarcoidosis is a rare autoimmune disease that affects multiple organs in the body. Let's spread awareness and support those living with this condition! #SarcoidosisAwareness #RareDisease #AutoimmuneDisease
@Aetna last year you approved the off-label use of a safe drug for a child with a neurodegenerative #raredisease w/o an approved therapy. This drug stabilized this child, and she has had no further regression. Her myoclonic episodes have resolved.
Radio Presenter Discusses Getting Diagnosed with Dystonia bit.ly/3UGb9J4 #Dystonia #RareDisease @dmrf
How time flies! Fabry Awareness Month 2024 is coming to an end: t.ly/K6pDh #Fabry #Raredisease #FabryAwareness
@DrRobgalloway Seeing the same doctor is very important for any #health condition, but more so with a #RareDisease My GP surgery has only 1 #Ataxia patient, that's ME!