Dr. Susan Perlman and Stephanie Magness on American Health Journal Nov 7
Dr. Susan Perlman appeared on American Health Journal this Friday to discuss Friedreich’s Ataxia (FA) along with one of her patients, Stephanie Magness. They educated viewers on the clinical aspects of the disease as well as daily life and clinical studies.
Dr. Perlman is a professor in the Department of Neurology at the David Geffen School of Medicine at UCLA and physician specializing in ataxia, Huntington’s Disease, and neurogenetics. She is the Director of the Ataxia and Neurogenetics Program and the Post-Polio Program at UCLA and has been a primary investigator for many Friedreich’s Ataxia trials over the years.
In this program, Dr. Perlman reviews some of the basic facts of the disease – it is a recessive neurogenetic disorder caused by mutations in both copies of the gene that controls the production of frataxin, it is a disease of childhood, and the symptoms start with balance and coordination difficulties. It begins in the legs and progresses to the hands, speech, vision, and even hearing. The patients may also develop cardiac symptoms, which include hypertrophic cardiomyopathy, heart rhythm problems, and even heart failure. Diabetes is another potential symptom and can cause affected individuals to require insulin.
Stephanie Magness is currently one of Dr. Perlman’s patients and, like all too many people with FA, she was not diagnosed correctly for the first few years of her symptoms. Friedreich’s Ataxia is often misdiagnosed as another recessive childhood neurogenetic disease like Charcot-Marie-Tooth disease, cerebral palsy, and idiopathic peripheral neuropathy. She was eventually diagnosed correctly via gene testing and is now able to manage her symptoms accordingly. Stephanie has also taken part in a natural history study as well as a clinical drug trial – possibly the first approved drug for FA.
According to Stephanie one of the most difficult aspects of the disease is its progressive nature. Even if a patient is able to handle their symptoms well currently they know that it may all change. Her advice was to focus on what you can do instead of things that you obviously cannot and find new things to do that you can excel in.
Now that drug companies have begun to take an interest in Friedreich’s Ataxia and to see it as an important area scientifically there is hope that a drug will be approved to treat FA in the not-too-distant future. Watch the program on Vimeo here: http://vimeo.com/110841193 (the section about Friedreich’s Ataxia starts at 15:39)