Search Results for: bruns

RARE Webinar: Building the Bridge Between Foundations and Industry

Recorded Webinar/ Download Slides    Are you a foundation looking for an industry partner? How about a biotech/pharma company looking to know about your patient community? This can be a tough gap to fill between these two worlds. How do you start? Who do you…Continue Reading

Girl with Parkes Weber Syndrome Deliver Message on Body Acceptance

 A Canadian teen with a rare disease that causes one leg to permanently swell to double its size has captured the Internet’s attention for her positive body image. Isa-Bella Leclair, 19, of New Brunswick, Canada, was born with Parkes Weber syndrome, a genetic disorder that…Continue Reading

2015 RARE Champion Of Hope Nominees

Global Genes™  would like to congratulate the following 2015  RARE Champion of Hope Nominees.   These individuals and organizations have been recognized by their peers because of their extraordinary efforts in Advocacy, Science, Medical Care and Treatment, and Collaborations in Science. All of the 2015…Continue Reading

Atypical Hemolytics Uremic Syndrome (aHUS) Parents Attend Meetups

Fourteen meetups for Atypical Hemolytic Uremic Syndrome (aHUS) will take place this year. There is an average of about 30 attendees per meeting. From Durham to Tampa and Pensacola, the meetups will take part all across the United States so parents and patients are sure…Continue Reading

Our “Labeled” Child’s Name is Simon: Fighting for Treatment

My name is Sheryl Crosier and most importantly, I’m Simon’s mom. I am also Simon’s voice and the voice of our most vulnerable children. The lives of children, regardless of the diagnosis or syndrome, possess inherent dignity and value and deserve the best care. Our…Continue Reading

What is a “Rare Rare” Genetic Condition?

It is interesting to note the prevalence of conditions such as trisomy 18, 13 and 9 vary between one in 5000 to 9000. This translates to a low incidence and, oftentimes, corresponding negative views on medical interventions and beliefs about a minimal quality of life.…Continue Reading

What is Trisomy 9?

When I started on my trisomy journey, my reference point was children with trisomy 18. In the 1990’s, I found very little information about medical conditions, developmental needs and pretty much anything about growth and potential. Fast forward to the 2000’s and beyond, and what…Continue Reading