By Maggie Wahl – 03/18/2014
Medical and Science Editor, MDA
Today, the MDA clinical conference got underway in earnest, with content-rich sessions ranging from the latest in molecular diagnosis and high-tech imaging to state-of-the-art robotic arms and pain control in neuromuscular disorders.
But first, 8-year-old MDA Goodwill Ambassador Regan Imhoff of New Berlin, Wisc., stole the show with her charm, wit and wisdom, leading the audience in cheers of “I am progress” and comforting her father when tears came to his eyes as he described the family’s journey with Reagan’s spinal muscular atrophy.
Jenny Imhoff, Regan’s mother, specifically thanked their own clinic physician, who, she said, “has kept Regan healthy and dancing.” Describing their MDA clinic, Jenny said, “Having doctors, therapists and nutritionists all in one place, working together and discussing patient care together has meant the world to us.”
Today, we learned that DNA-based testing is about to undergo yet another technological revolution, making it cheaper and faster than ever to sequence a person’s entire genome. That will be a boon to diagnosis and to research, but, as with most innovations, it also raises questions. Among the most important of these is what to do with unexpected findings that are not directly related to the condition for which the patient or family asked to be tested. For instance, finding a genetic mutation that predicts that a young person will probably develop amyotrophic lateral sclerosis, when testing was not undertaken with ALS in mind, poses a dilemma to which there are, as yet, no clear solutions.
We also saw dramatic MRI and ultrasound images that show muscle and nerve damage without painful, invasive testing; and equally dramatic video images of a teenager with spinal muscular atrophy who can operate a newly developed robotic device with a joystick, allowing her to retrieve a drink from a restaurant counter, insert a key to open a mailbox, and pour food into a dog’s dish without asking for anyone’s assistance.
And during an afternoon session, many of the clinicians were able to try out the newest devices in respiratory care for themselves, as they rotated around a series of talks and exhibits of these products.
“We continue to learn from each other in our clinics, and here at this meeting as well,” said conference co-chairman John Day. “Even if you’re not a physical therapist, you can go to the sessions on exercise. Even if you’re not a social worker, you can go to those sessions and learn from them.” A lot of learning – and teaching – occurred during these St. Patrick’s Day presentations.
Muscular Dystrophy Association — USA
222 S. Riverside Plaza, Suite 1500
Chicago, Illinois 60606
The Muscular Dystrophy Association (MDA) is a qualified 501(c)(3) tax-exempt organization.
©2014, Muscular Dystrophy Association Inc. All rights reserved.