#Raredisease families, are you in or near Colorado and looking for a summer camp for your loved one? Rocky Mountain Village is my favorite place in the world and camper applications open in January! 4 days/nights filled with never ending fun and laughter!
Thinking of all the #raredisease siblings on National Siblings day. These are some words often used to describe siblings of individuals with rare diseases. What word best describes a sibling in your life?
Thank you 2015 Steele alum Abby Turnwald (she/her) for a fantastic presentation on genetic counseling. Please share your FB page and link to the books your helped write!
Pediatric Genetic Counselor Abby Turnwald (she/her) wants to hear from you!
Have you received a rare genetic diagnosis for your child in the past 5 years? If so, help us better understand the parent perspective by filling out the survey at the link below! University of Nebraska Medical Center
unmcmmi.co1.qualtrics.com/jfe/form/SV_bx…
#GeneChat - Interview season is upon us! What advice do you have for #geneticcounseling applicants completing interviews this spring?
Reply below ⬇️
EllenMatloff Danielle Bonadies DNA Today: A Genetics Podcast Matt Tschirgi, CGC
Charlene Preys MS, GC Abby Turnwald (she/her) Katie Hutto, MS, CGC
Brayden West
#PrecisionMedicine
Happy #BookLoversDay to all bookworms!
Hey #GeneChat - what is your favorite book related to #patientperspectives , #genetics , or #geneticcounseling ? Reply below!
Abby Turnwald (she/her) is not only a pediatric GC, but also an author! Check out her books @RareSibStories
#PrecisionMedicine
#RareDisease @RareSibStories: 'Meet Abby Turnwald MS, CGC (Abby Turnwald (she/her)). As a genetic counselor, Abby connects with families on their diagnostic journeys. She listens to families' stories, educates about genetic testing… pic.twitter.com/KQTiaWkWz3, see more tweetedtimes.com/search/%23Rare…
#RareDisease parents, how often do providers ask how you’re doing? Do you wish they’d ask more? I’m always surprised when I ask a parent and they comment that nobody has asked them before.
Learn about our #SibShops with one of my favorite #GeneticCounselor Abby Turnwald (she/her)
#CTNNB1 #RareDisease
podpage.com/ctnnb1-connect…
#GeneChat #raredisease I’m starting my Christmas list of books written by rare disease families. What are some must adds? I’ve loved and learned a lot from many including Raising a Rare Girl, Schuyler’s Monster, and Chasing My Cure. 🧬🦓 #books #nonfiction #genetic
In #S10e117 I called out
Abby Turnwald (she/her) and her survey
EveryLife Foundation for the upcoming Rare on the Hill week
Patrick Wild Centre's Andy Stanfield for a great webinar
Simons Searchlight for their updates
ILAE for the #MAD webinar
Listen up! podcasts.apple.com/us/podcast/syn…
Abby Turnwald (she/her) I started a list of #raredisease awareness days, weeks & months when I was at AllStripes which their team continues to update as a resource for the community since I couldn’t find a comprehensive one. allstripes.com/blog/raising-a… cc Taylor Kane
Hey Abby Turnwald (she/her) and Stephanie Fischer here's another awareness day for your database. I'd recommend adding ENPP1 deficiency to the same day (more current name for autosomal recessive hypophosphatemic rickets type2. Need to get the 'rickets' out of the name because it affects adults too).