The Balancing Act - Rare Disease Day Special. Shining the spotlight on rare diseases such as Hunter’s Syndrome and ATTR - Alnylam Amyloidosis. Plus we attend the Global Genes Summit & Gala to celebrate those most afflicted.
Battling a rare medical condition that’s often misdiagnosed.
Imagine having a rare, debilitating disease that’s passed down through families. Dr. John Berk, Associate Professor of Medicine at Boston University... and Clinical Director of its Amyloidosis Center, joins us to discuss the medical condition called Transthyretin-Mediated Amyloidosis .. or ATTR. Its symptoms are similar to other conditions and ATTR patients are very often misdiagnosed. We’ll discuss symptoms, family connections and treatment options, in this Behind the Mystery: Rare & Genetic segment. And meet Dylan Duncan, who’s battling the disease.
Have some unanswered questions about your child’s illnesses?
Finding an underlying cause to your child’s long list of childhood illnesses and repeat visits to your pediatrician can be tough. But it’ll also be a huge relief, when you’re able to pin-point the problem. Dr. Barbara Burton, MD, Professor of Pediatrics, Northwestern University; Dr. David Molter, Professor of Otolaryngology, Washington University School of Medicine, at St. Louis; Carrie Dunn, a Parent/Caregiver – and her son, Jackson Dunn, join us to discuss Hunter syndrome. Seven-year-old Jackson has Hunter syndrome -- a serious genetic disorder that primarily affects males. The symptoms of Hunter syndrome are quite common among all infants, so it can be difficult to diagnose-- so it’s important to see a doctor. A newborn infant who has the disorder will appear normal at birth, but over time—the symptoms begin to appear – and will also worsen. The more awareness that exists for Hunter syndrome, the more like that parents/families and doctors can help get a diagnosis, sooner.

Global Genes Summit and Gala
There are about 7-thousand rare… genetic diseases that affect more than 30-million Americans… and millions more worldwide. The Balancing Act’s Behind the Mystery Series has highlighted many of them. Time is against them. It often takes over 7 years to reach a proper diagnosis… and an astounding 95-percent of rare diseases… have no FDA-approved treatment.
The Global Genes Summit is out to change all that through the Global Genes Initiative. Stars, rare disease patients and advocates attend an eventful evening to spotlight and honor those who are battling rare genetic diseases. Held in Huntington Beach, celebrity presenters included Bryce Dallas Howard, Jason Ritter and Lindsey Shaw. Rare disease patient advocate and radio host Scot “Froggy” Langley played Master of Ceremonies for the evening’s festivities. American Idol Season Eight Winner and Platinum Recording artist Kris Allen took the stage with 12-year old Global Patient Ambassador honoree Ben Lou for a very special performance. In all, more than 800 patients, philanthropists… advocacy leaders and celebrities came together to raise over 1.2-million dollars for rare disease research education and patient support!



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