I recently opened a patient led meeting on Miller and Nager syndrome hosted at the Broad Institute. My presentation was focussed on using genomic technologies to rapidly diagnose rare disease patients. It was a great event for me to attend and interact with the patients. Their spirit, hope, fortitude and over-whelming gratitude is a reminder to all researching on rare disease that what we do is important.
In addition to meeting with the patients and family members, the other memorable part was Professor Francois Bernier’s presentation. Prof. Bernier is the world expert on these syndromes and has a clinic dedicated to its research. He opened his presentation that had an amazing humility, that his presentation should not be what HE thought was important for the patients to hear but instead should be about what patients thought was important for him to present. After gathering feedback from the patient audience and answering any burning questions they had, he adjusted his presentation and order of his slides. It was just amazing and I’ve seldom seen any researcher publicly demonstrate in their actions that patient should have a voice in the direction of research, what’s important and what we should be focussing on instead of thinking what is best for them. In other words, he was promoting research that was a partnership with the patients that suffer from rare diseases.
As a patient that went on a diagnostic odyssey from the late 90s to 2013, similar attitudes to Prof. Bernier was an anomaly and the total opposite of the clinical research community. I was frustrated in taking time off work to visit my neurologist every six months for him to tell me something I already knew, that my muscles were getting weaker and that the genetic cause was unknown. I told them if that’s all you are going to do then I’m going back to University to do something about it! I got the biggest shock in their response, which I’ve been told is the typical response. They told me to “leave it to the experts”. It was so discouraging at the time and I felt so helpless and lost. Coming from a culture that respects authority and doctors, I agreed with their advice and accepted my fate as someone who will always sit on the sideline.
After living a few more years with the frustration of more physical things I could no longer do. I thought screw it, they don’t know me and they certainly can’t tell me what I can and should do with my life. I don’t expect no one to care about my disease and the impact it has on my life, more than me! I decided to leave my job at IBM and go back to University to obtain two more undergraduate degrees, Bioinformatics and Physiology before starting a PhD. One thing I wanted to prove during this journey was that patients can be experts in their disease and be professional enough to make choices despite conflicts of interests. In fact, patient researchers would make better decisions as poor emotionally driven decisions are eventually going to do more harm to progress in finding treatments and cures that the patient is working towards.
Two years after completing my PhD, I gave the opening presentation in the Genetics section at World Muscle Society conference, while my neurologist sat in the audience with a poster. I’m so glad I didn’t listen to “the experts” and took it into my own hands.