Disease that disproportionately impacts Indigenous people provides opportunity to do research in a culturally safe way

Spinal Bulbar Muscular Atrophy, also known as Kennedy’s Disease, is a hereditary disease that affects motor neurons that exit the brain stem and spinal cord into muscles of face, throat, arms, legs, and lungs. It causes weakness, cramps, muscle twitches in arms and legs, and affects speaking, swallowing, and breathing.  

New research published in the journal Neurology Genetics revealed that among people of Indigenous descent in Saskatchewan, the rate of Kennedy’s Disease is 14.7/100,000, compared with the average rate of 1 to 2 per 100,000. Of the participants in the study in the Pprairie provinces, 83 per cent self-identified as Indigenous. 

“Several of us who have practices in neuromuscular disease in the Pprairie provinces and Ontario have suspected that there is a much higher prevalence in our Indigenous population. The first person ever identified with this disease was likely of Indigenous descent from Canada who then went to the Mayo Clinic and relocated to that area,” said researcher Dr. Kerri Schellenberg (MD), associate professor of neurology at USask and the medical director of the ALS Clinic at City Hospital. However, this had not previously been recognized or discussed in the medical literature, and the significance of this observation was unknown. 

The disease is known to have a higher prevalence in certain global populations due to genetic founder effects. A founder effect occurs when a genetic mutation is present within a relatively small population. As the population grows, the prevalence of the mutation can become higher than other populations. People affected by the disease due to a founder effect share the common ancestor(s). It is an X-linked disease, which means that it primarily impacts males, who have only one X chromosome. 

Schellenberg collaborated with neurologist Dr. Gerald Pfeffer (MD), from the University of Calgary, to do further genetic analysis of patients with the disease. Work by Pfeffer’s research team revealed that there are shared genetic markers around the mutation in most of the patients, which shows that the high prevalence is due to a founder effect. His team estimated that the founder lived approximately 250 years ago.  

The majority of people with Kennedy’s Disease in this study identify as Cree and Saulteaux, though not all the people who identified as Indigenous were able to identify their ancestral nations.  

When Schellenberg and Pfeffer realized how high the percent of Indigenous patients with the disease was, they reached out to Dr. Alexandra King (MD) and DrProf. Malcolm King (PhD), two Indigenous faculty members of USask’s College of Medicine who head pewaseskwan Indigenous Wellness Research Group. Alexandra Dr. King is the Cameco Chair in Indigenous Health and Wellness, and Malcolm Prof. King is the scientific director of the Saskatchewan Centre for Patient-Oriented Research. 

The Kings, with support from pewaseskwan staff, guided them on how to engage in a culturally safe manner with the patients and do patient-oriented research. A Community Guiding Circle comprising people living with Kennedy’s Disease was formed and the Kings assisted with meetings during which the research findings were shared with the participants. 

“We made sure that before we presented the information to anybody else, we had a meeting with the participants of that research study. We presented it and then we sat down and listened. We wanted to hear their feedback in terms of how they wanted to proceed in the next steps, and it became clear that this was of strong interest to people, and they wanted to see the project move forward,” explained Schellenberg. 

The meetings included ceremonial openings, introductions and prayers by a Saulteaux Elder from the pewaseskwan team. They also included time for the participants to voice their own thoughts on the research, their health needs, and the lack of awareness of Kennedy’s Disease.  

“It’s not only an Indigenous community perspective; it’s a patient-oriented research perspective. The patient community voice adds an important and valuable perspective to the project that is different from and really additive with the researcher perspective,” said Malcolm King. 

This was Pfeffer’s first time conducting research primarily with Indigenous people and in a community-centred and patient-oriented way, where patients are the first to hear the results of the research. He says said he now believes this is the best way to do research with any population. 

“If you’re doing a research study and you find something that is important, giving your participants the opportunity to become reengaged in the research after it’s been done, giving them a chance to speak up and say how they would like to see things move forward, is really important and it’s something I’ve started integrating into my other projects as well,” he said. 

Alexandra King says said it is important to provide a space – virtual or in-person – for the patient community to come together and talk about how the disease impacts them and how they would like to be involved in further research. 

She also contacted some patients individually to have one-on-one discussion about what Kennedy’s Disease meant to them and what needs they saw evolving regarding care, research and resources.  

“Having good support for it is really necessary to help catalyze this, and ultimately this is part of the research process. We’re trying to figure out how to build the research around the patients’ needs. This research is very interesting and we’re certainly hearing from people who are living with the disease and their families on its importance to them,” she said. 

The research team, including Schellenberg and Pfeffer, and Drs. Alexandra King and Malcolm King, have received a $50,000 grant from the Kennedy’s Disease Association to continue this research. They will expand the work to Edmonton, Calgary, Winnipeg, Thunder Bay, Ont., and do more in Saskatoon. As they recruit participants in the new sites, they will also expand the Community Guiding Circle to include patients from those places. The Kings and pewaseskwan will continue to support the research. 

Schellenberg, a settler on Treaty 6 Territory, said her work with the people living with Kennedy’s Disease has been very meaningful.  

“It’s been a wonderful experience in many ways. I’m grateful to be on these lands, yet I know it was at a cost, so to be able to work with the community and help support physical or medical needs is a way of giving back,” she said. 

She also found the Indigenous approach to research very impactful and learned how important it is.  

“I think it puts the work and everything else that we do in its own special context, to connect it back to the people’s histories and ancestry and traditions, but also through ceremony connect people together so they can support each other,” she said. 

Alexandra King said that in Saskatchewan, where approximately 16 per cent of the population is Indigenous, there should be Indigenous engagement in any research right from the beginning. But she added that it is never too late for researchers to involve Indigenous researchers and community. 

Pfeffer recommends that other people doing research that may involve Indigenous people learn more about how to do the work in a good way by educating themselves and connecting with Indigenous health experts and Indigenous members of their communities.  

“In the spirit of reconciliation, it’s important those of us who reside on these lands to understand more about the history of Indigenous peoples and to make sure that if we want to help in doing health research, that we do so properly and respectfully,” he explained.  

This research study has been published as an open-access article and is available at: https://ng.neurology.org/content/7/4/e607