A 15-year search for a diagnosis by Lilly Grossman and her parents ended in 2013. Lilly became the first person in the world to be diagnosed with ADCY5-related dyskinesia. The gene affects locomotion and coordination.
An article in Precision Medicine stated that since Lilly received her diagnosis, hundreds of others have been made aware of ADCY5-related dyskinesia and diagnosed with the disorder thanks to Professor Katia Moritz, Lilly’s family, and the Grossman’s advocacy organization.
Dr. Moritz also has an undiagnosed illness. Years ago, she underwent a routine colonoscopy and woke up with unexplained and undiagnosed symptoms.
Yet the majority of patients have not been as fortunate. Some doctors use a ‘descriptive diagnosis’ such as a patient’s symptoms. Yet many autoimmune diseases exhibit similar symptoms. Not only is this inadequate, but similar symptoms can be found in other illnesses.
With respect to her own illness, which Prof. Moritz suspects is a neuromuscular disease, she presented her story on a local radio show. Surprisingly, the show was inundated with callers desperate to explain their own experiences and their struggle to receive a diagnosis.
The show began with minimal expectations asking people to participate. They were overwhelmed. It is still going strong after nine years with many people looking for the opportunity to share their stories.
The Film: Undiagnosed
Prof. Moritz decided to produce a program describing her own struggles in trying to determine the disease, the cause of the disease, and its relationship to the thousands of undiagnosed illnesses in the world.
She joined two well-known film producers to make a short documentary featuring four families who agreed to be filmed for nine years. Prof. Moritz outlined the changes that have been made and those that are still needed. Currently, the film has been featured at 18 film festivals in six countries. Undocumented was awarded Best Feature Documentary at Toronto’s International Film Festival.
- Currently, no method exists to capture information from patients who have not been diagnosed
- No criteria for an undiagnosed disease have been established
- If an undiagnosed person dies there is insufficient information for future use about that person
Prof. Moritz suggests a large database where this essential information may be stored and cross-referenced. The information should be accessible to everyone.
Another goal for the Undiagnosed film is to create awareness in Congress and political bodies in general showing how the future of medicine depends in large part on material from undiagnosed patients.
Prof. Moritz explains the importance of the film being a success as it validates the message she is trying to share and not only gives more visibility but also more support.
The professor is also negotiating an arrangement whereby the film is screened at 24,000 hospitals across the U.S. as an educational tool.
Although still undiagnosed, the professor is grateful that she has been well enough to carry out the advocacy work for twelve years.
Lilly’s condition has greatly improved. This includes her speech and mobility. She graduated high school and is midway through her master’s degree studies. She can now perform many daily activities with minimal assistance.
The Grossmans would like others to know that discovering Lilly’s illness was the direct result of locating the gene. Genetic testing is the optimum way to find the source of an illness. Her mother, Gay Grossman, stated that even if at the moment there is no treatment, the genetic diagnosis is still critical.
Prof. Moritz emphasizes that they need the support of the community to conquer undiagnosed rare diseases.