February 2018: Turning Adversity into Advocacy

tags: Neurology and Neurogenetics Clinic

Dr. Lana Warren: In recognition of rare disease awareness month, I am joined by Dr. Ali Fatemi, our Director of the Division of Neurogenetics at Kennedy Krieger Institute.

Dr. Ali Fatemi: Hi, I am delighted to be here today and tell you all about my patient, Greg, whom I just say last week at the Kennedy Krieger Institute. Greg was this great A student and at some point in middle school, he started having problems in school. He had some behavioral issues and started getting into trouble. His friends started bullying him. His parents started getting angry at him for not performing so well and having declining his grades. He ended up seeing a bunch of psychiatrists, some behavioral psychologists and for many years. Eventually, one day at age 17, he ended up in an emergency room getting a brain MRI and that brain MRI showed that he had a rare genetic disease of the brain, it’s called metachromatic luekodystrophy.

A headshot of Dr. Ali Fatemi

We eventually diagnosed him with this rare disease at the Kennedy Krieger Institute and it’s a disease that affects the wiring of the brain. It is also abbreviated as MLD, so this is a disorder that gets worse over the course of years. Patients lose all their motor and cognitive function and become severely neurologically disabled. While this is a bad diagnosis, Greg was in no way willing to give up. I am truly inspired about what he has done over the years. He has started a fundraiser and website called “Greg’s challenge”. He started building bracelets that, in fact, help with his hand function, so he sold these bracelets for a fundraiser. He also has been going around this region and giving speeches to medical students, psychologists and psychiatrists raising awareness about this rare disease. Teaching people his story and how long he went undiagnosed, this is truly for me an inspiration how he’s able to maintain in such great spirit and make a change in this world.

Dr. Lana Warren: Inspiring moments produced for WYPR by Kennedy Krieger Institute. I am Dr. Lana Warren.