The Canadian MPS Society aims to ensure that MPS and related lysosomal storage disorder patients are provided the best care possible at all times in every aspect of their lives.
When families learn that their child has been diagnosed with Mucopolysaccharidosis (MPS), a rare, progressive and incurable disease that may potentially take their child’s life, it places on them a heavy emotional, physical and financial burden that few can relate to or understand. Most newly diagnosed families have never even heard of the disease prior to diagnosis and struggle to find adequate information or resources to guide them through the process of seeking treatment. Despite their astounding strength, resilience and optimism, many families struggle to readjust their lives to the overwhelming new reality presented by this disease.
Early detection of patients continues to be a key issue in the world of MPS and related lysosomal storage disorders not only within Canada but on a global scale. The truth is that some families search for many years for the correct diagnosis, which often translates to irreversible damage or even death for patients. It is essential to find these patients and ensure that they live their healthiest life by receiving the care they need as early as possible.
The Canadian Society for Mucopolysaccharide and Related Diseases Inc. (The Canadian MPS Society), founded in 1984, serves Canadians affected by MPS and related diseases through support, education, advocacy and by advancing research. The Canadian MPS Society helps ease the burden by directing families to important sources of information, research and medical help, and by connecting them with other families experiencing similar situations to expand their network of support. We also provide financial support to families through our Family Assistance Program – to date, we have funded over $150,000 (~€138,000) in grants to offset the many extraordinary costs incurred with a diagnosis, such as travel to treatment facilities, medical aides and wheelchair accessible home remodelling.
Empowering MPS patients
Quite often, the Canadian MPS Society is the first point of contact for external support outside treating physicians and caregivers. We are a network of caring staff, volunteers, member families, medical professionals and healthcare providers that understand the complexities of these diseases and offer supports that can serve as a lifeline for affected families. We strive to empower patients and families with educational materials, support networks, financial assistance and comfort in knowing that they are not alone in their journey and that we are here to help, in every way that we can.
Canadian MPS Society’s programs and services include:
- Educational resources – available in both English and French;
- Financial assistance program – providing financial support to help families manage the extraneous costs associated with MPS and related diseases;
- Advocacy – our staff are available to support families in accessing appropriate care and treatment, connecting to other members for mutual support, and during times of loss and bereavement;
- National Family Conference – our biennial national conference brings together the MPS community to learn about advances in care and treatment while developing life-long friendships; and
- The e-Connection – our monthly digital newsletter is a current source of news from Canada’s MPS community, including stories for our members and partners, research and treatment updates, and information about upcoming events.
Although the Canadian MPS Society has a robust database of affected patients and families in Canada, we know that our data is not complete. To address this, the Canadian MPS Society plans to develop and roll out the first national MPS patient registry. The MPS patient registry will serve as an essential tool for organising patient information, clinical and demographic information, as well as accelerating and supporting further research. It will also pose to be beneficial in the recruitment and facilitation of clinical trials within Canada and internationally. The registry will provide a platform whereby the target populations can be quickly and easily identified across Canada and complement clinics facilitating research activities and investigator collaboration.
Supporting further research
The Canadian MPS Society is embarking on three major initiatives, beginning in 2020. These are:
Early detection and diagnosis campaign including newborn screening advocacy
Ensuring early diagnosis through newborn screening during the first days of life has been successful in identifying a number of manageable inborn disorders and conditions. The symptoms of MPS diseases are not evident at birth and without early intervention, there is high risk for morbidity and mortality with the condition remaining undiagnosed for two to three years after symptoms arise. With the advent of enzyme replacement therapy and haemopoietic stem cell transplantation, and with the emergence of gene therapies in clinical trials, early diagnosis can delay or prevent irreversible manifestations. Newborn screening for MPS allows diagnosis early in life before symptoms arise. Since the introduction of newborn screening in 1963 in Canada, a total of 24 disorders including metabolic, blood, endocrinal and cystic fibrosis have been included in the screening process. The Canadian MPS Society is focused to include MPS in Newborn screening in Canada in the coming years. To achieve this, the Canadian MPS Society will develop and deliver a newborn screening advocacy campaign, to be launched in September 2020.
Development of a Canadian MPS and related lysosomal storage disease patient registry
The Canadian MPS Society plans to develop the first national MPS and related diseases patient registry that will be the pivot for patient information, data collection and research to healthcare providers and researchers within the MPS community in Canada and abroad. The MPS patient registry will serve as an essential tool for organising patient information, clinical and demographic information for accelerating and supporting further research. It will be pivotal in the recruitment and facilitation of clinical trials within Canada and internationally. The registry will provide a platform whereby the target populations can be quickly and easily identified across Canada and complement clinics facilitating research activities and investigator collaboration.
Development of a comprehensive on-line resource guide for patients, families and caregivers
We envision the on-line resource guide to be a set of tools that systematically supports the provision of resource-based intervention practices. The guide will focus on the identification and mobilisation of formal and informal resources and supports that help individuals and families affected with MPS achieve desired outcomes. This national guide will represent a departure from more traditional help giving practices in which practitioners identify family needs and prescribe the resources that will be accessed to remediate their need.
Kim Angel
Executive Director
Canadian MPS Society
kimangel@mpssociety.ca
Tweet @CanMPSSociety
www.mpssociety.ca
Please note, this article will also appear in the first edition of our new quarterly publication.
