The diagnosis of a rare neurological disease can have considerable impact on patients and their families. Most rare neurological diseases have underlying genetic causes.
Genetic counselling fills an important need – providing answers and personalized support to people living with or concerned about the risk of a rare or undiagnosed disorder.
We spoke to Nancy Anoja about her work as a genetic counsellor at The Neuro, what hope is on the horizon, and her most important take-away message to patients and their families.
"Our patient includes the whole family, and not just the person sitting in front of us"
What is a genetic counsellor and what services do you provide?
We are healthcare professionals with specialized training in both medical genetics and counseling. We are trained to work in different specialties, from oncology to prenatal.
My role at The Neuro is genetic counselling for many of the rare forms of neurodegenerative diseases, such as ALS, epilepsy, dementia and stroke.
I provide education and psychosocial support to patients and families and offer strategies to help them adapt to challenging diagnoses.
We meet to discuss the nature and implications of their disease, risks of inheritance for either themselves or their family members and the different options they have, to help them make informed decisions.
What are some of the unique challenges faced by your patients?
What makes hereditary diseases different from other diseases is that, when we do identify a gene mutation, it can impact other family members. Not only is a person dealing with the impact of a condition on themselves, but the implications it has on the rest of their family.
We share our genes with our siblings, we transmit them to our children, and we receive them from our mothers and fathers. Our mothers and fathers also have siblings who have children. Communicating this to other family members can be quite difficult and providing support is part of our role in genetic counseling.
Also, unfortunately, people living with a rare disease may need to be their own advocates when interacting with the public health care system and must be the “teacher” to other healthcare professionals who may be unaware of their specific rare disease, the symptoms, the risks or even what type of information to provide.
How does genetic counselling benefit people living with rare diseases?
Rare disease can take years, if not decades, to finally be diagnosed. By the time they come to a genetic counsellor, they may have already been living with ongoing symptoms for some time.
Patients face challenges associated with their own disease and deal with lack of knowledge, uncertainty, and other psychosocial issues arising because of diagnostic delay. We call this the "diagnostic odyssey".
Many people express relief once they receive a diagnosis; however, they also have many questions as to what to expect in the future and what it may mean for their family members. That is why meeting with a genetic counselor who will recognize what is real and relevant for them, provide accurate and personalized information, research opportunities, counselling and support is so important. People are more informed and better prepared for what's to come.
What motivates you to do this work every day?
Nancy has been working as a genetic counsellor in rare diseases at The Neuro for the past eight years (Photo credit: McGill University Health Centre)
The overall feeling of not being understood is a shared feeling that people with rare diseases do tend to express. Often, our patients express gratitude that someone understands what they are going through.
Knowing that we are one of the few professions that can provide both the medical information and the psychosocial support for people living with rare diseases – that is what really motivates me.
What is the goal of genetic testing for patients?
Genetic testing allows for a clear diagnosis. It can help the physician and patient understand what symptoms belong to the rare disease and what symptoms are common in the general population.
Genetic testing also allows us to understand how the gene is transmitted in the family; whether it is an autosomal dominant or recessive mode of transmission, for example. We have a little over 20,000 genes, so every gene mutation identified tells a different story. That is why genetic counselling is so important for family members.
Treatment options may not differ as much as we would like to hope. But there are now emerging clinical trials related to rare diseases, so there is much hope as compared to even just a few years ago.
Tell us more about the treatment developments on the horizon! Is that exciting for you?
Absolutely! Historically, treatments for rare diseases help to ease symptoms, but are not geared towards treating the disease.
There are new clinical trials for neurodegenerative diseases that are specific to genetic conditions, or for common diseases where there's a genetic cause.
So now, for the first time, we are starting to consider treating the actual cause of the disease.
We are lucky that The Neuro’s Clinical Research Unit has many of these clinical trials available for rare diseases. It allows our patients to have that discussion with their physician, if something “more” can be done. When we identify a person’s condition, or specific gene mutation, we can offer them the possibility of meeting with a researcher, or a clinical trial coordinator.
We are slowly getting data in from the trials and seeing what is possible, so this is an exciting time. Now when I am counseling our patients, there's a little glimmer of hope that we are able to provide.
What message do you have for patients and families considering genetics testing and counseling?
The Neuro's Neurology Clinic offers consultation and monitoring of complex cases or those requiring more specialized care not involving surgery (e.g., Multiple Sclerosis, Parkinson’s, tremors, back problems, headaches, cognitive behavior, epilepsy, etc.).
To discuss the referral of a patient, or to make an appointment (by referral only), for genetic counselling, contact:
Tel: 514-398-5034
Fax: 514-398-2745
