For those living with #RareDiseases, the path to diagnosis can feel like an endless odyssey, marked by countless challenges. Millions navigate a maze of misdiagnoses, unanswered questions, and relentless uncertainty. We’re hoping to change that through education and awareness.
Glynda Lucas
4w
This has certainly been my experience; however, a diagnosis is all I have. Benign essential blepharospasm is a debilitating disorder but there still hasn't been a cure or even a treatment that has been helpful to me. I will spend the rest of my life with this disorder. All the education and awareness are pointless unless funds can sponsor research in finding a cure.
Discovery DNA / MAGIC Clinic in Calgary
1moThe model at MAGIC Clinic in Calgary is helping change this. We saw close to 3,000 patients last year with one-half being new referrals who were on a wait list between 3-8 years in other places. Many were first time referrals from family doctors and community physicians who are recognizing rare diseases and have a clinic to refer too that doesn’t have a long wait list. The wait list for rare diseases is an artificial one, at least in Canada. It is largely there because of the bottleneck in academic centres, specialists who see too few cases for what they are paid, insufficient access to genomic testing and lack of education about rare diseases to medical trainees and community doctors. It is neither costly nor difficult to overcome. Things medical geneticists and genetic counsellors can do: see patients every day, stop spending an inordinate amount of time writing letters with information that’s readily available these days, improve efficiencies, think of your clinic not about how busy your day is, but how long the patient has waited. And for goodness sake convert to exomes and genomes away from gene panels for the most part.