OUR VIEWS Ideas & Insights

“On the Radar” posts capture conversations between AVROBIO President and CEO Geoff MacKay and patient advocacy leaders in the rare disease community.

We are passionate about maintaining an open line of communication with the patient community as their insight and knowledge are critical to understanding the full experience and needs of individuals living with rare diseases.

On the Radar: A Conversation with Patient Advocacy Leader Christine White, National Gaucher Foundation of Canada

Former President & CEO

Geoff MacKay | Former President & CEO

The National Gaucher Foundation of Canada has been the recipient of financial grants from AVROBIO. However, the content below was created independently from, and without regard to, such grants.

I recently caught up with friend and fellow Canadian, Christine White, president of the National Gaucher Foundation of Canada. Even in a virtual meeting, it’s hard not to feel energized talking to Christine. I’ve long admired Christine’s dedication to improving the health and well-being of Canadians living with Gaucher disease. She is an empowering force and a terrific advocate for people with Gaucher disease around the world. Her work closely intersects with what we strive to do at AVROBIO – bring potentially life-changing gene therapy to the world so individuals with lysosomal disorders such as Gaucher disease can live free from disease progression, painful and debilitating symptoms and the burden of chronic treatment regimens.

Christine’s involvement with the Gaucher disease community began when her two daughters, Meghan and Kate, were diagnosed with Gaucher disease type 1 in 1991. Her son was later identified as a carrier of the condition. Like many other families at that time, Christine and her family were completely unfamiliar with the condition and felt isolated and uncertain about the future.

It wasn’t until Christine and her family met a fellow person with Gaucher disease that she realized they were part of a larger community fueled by a great desire to find better support and treatments. Determined to create change for people living with Gaucher disease in Canada, Christine met with patients, family members and health professionals and eventually helped form the National Gaucher Foundation of Canada. For more than 30 years, the Foundation has worked to improve the health and well-being of Canadians living with Gaucher disease.

From its inception, the Foundation worked on educating and speaking with members of the Canadian government about access to new therapies that had become available for Gaucher disease outside of Canada.

In 1991, the U.S. Food and Drug Administration (FDA) approved the first enzyme replacement therapy (ERT) for Gaucher disease, offering a significant improvement in treating Gaucher disease. ERT works by replacing the missing enzymes that people with Gaucher disease are not able to produce that are needed for the body to break down fatty chemicals that would otherwise build up in bones and organs.

Christine and her fellow advocates worked tirelessly to research and develop a case to demonstrate why access to this therapy was vital and viable for Canadians living with Gaucher disease.

The Foundation helped secure broad access to ERT after meeting with the Canadian Minister of Health. However, ERT was just the first step for Christine. She continually works to ensure that treatments and new solutions are moving forward for her children and others just like them. The Foundation recognizes that even patients with access to current therapies may still have significant unmet needs.

In addition to raising awareness of new therapies, Christine and the Foundation also push to help provide access to these novel treatments. Canada’s healthcare delivery mode is unique and provinces act independently, which may lead to inconsistency in therapy availability across Canada. In her role on the Board of Directors for the Canadian Organization for Rare Disorders (CORD), Christine is working with other leaders on a Rare Disease Drug Framework, which aims to ensure all those living with a rare disease have access to therapy regardless of where they live.

Speaking with Christine, and hearing about her own experiences and the work she does for the Candadian Gaucher disease community, the need for new treatments that can address the various types of Gaucher disease and the wide range of symptoms is clear. Gaucher disease is typically categorized across three types. While Gaucher disease type 1 and type 3 can be managed with ERT, people receiving treatment may not meet the predefined disease parameters for treatment, and still have a significant burden of disease and limited quality of life. There are no therapies for Gaucher disease type 2 and relatively few specialists to care for people living with this type of Gaucher disease in Canada.

Thank you, Christine, for the opportunity to catch up about the issues that matter to people living with Gaucher disease.

Conversations with advocates like Christine help keep these priorities on our radar at AVROBIO, including the importance of collaborating with communities to inform clinical research, listening to people living with and caring for people with genetic diseases to ensure we understand which study outcomes matter to patients, as well as better understanding the unmet needs in the community.

Christine and the many other advocates of the patient communities inspire us at AVROBIO to keep working toward our purpose of freeing people from a lifetime of genetic disease.