Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

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Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Synonyms: COX deficiency, French-Canadian type | Cytochrome C oxidase deficiency, French-Canadian type | Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type | Leigh syndrome, French-Canadian type | Leigh syndrome, Saguenay-Lac-Saint-Jean type | SLSJ-COX deficiency

Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis a French Canadian form of Leigh syndrome (see this term) is a mitochondrial disease characterized by chronic metabolic acidosis hypotonia facial dysmorphism and delayed development.

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Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type?

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Advocacy Organizations

Cure Mito Foundation

Our mission is to empower families to come together with a common goal of finding treatments, and ultimately a cure, for this devastating disease.

CureARS

Is to spread awareness, connect and provide support to affected families and fund research for the ultra-rare mitochondrial ARS genes in order to pave the way to suitable treatment options and ultimately a cure.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Inclusive Skating

TO INCLUDE, INFORM AND INSPIRE people around the globe through the joy of skating, reflecting the compassion, respect and innovation that make ours the world’s premier inclusive organisation. Inclusive Skating is dedicated to the advancement of public participation in sport and the promotion of equality and diversity. Our primary objective is the development and implementation of programming which fosters the inclusion of skaters with any form of impairment or disability. Our ethos of inclusion extends to skaters of all ages and backgrounds; we welcome all with open arms. Values of empathy, integrity and empowerment are central to the pursuit of these goals. We believe that everyone should have the opportunity to experience the community, camaraderie, self-fulfilment, achievement, challenge, and thrill that participation in skating sports offers. We work to create these opportunities by offering activities, educational resources, events, training, and championships for our community.

Jamal’s Helping Hands

Jamal's Helping Hands provides services for patients affected by rare disease and their families. With a vision to become a premier resource and national leader in education, outreach, advocacy, and support to individuals affected by rare disease. JHH enhances the quality of its clients lives by providing an array of services to make the experience of rare disease easier.

Patient Advocate Foundation

Patient Advocate Foundation (PAF), founded in 1996, is the nation’s leading direct patient services organization whose mission is to safeguard patients with chronic, life-threatening, and debilitating diseases through effective mediation of issues related to access to care and preservation of financial stability. Patients must be seeking help with any of the following needs related to their diagnosis: • Accessing prescribed healthcare, including understanding their healthcare benefits • Issues related to their health insurance benefits, including denials of care, out-of-pocket costs, network issues, and insurance options • Financial concerns, including cost-of-living expenses and medical expenses • Practical needs, including transportation and nutritional needs • Assistance with filing an application for disability Since its inception, PAF has provided direct, sustained patient assistance to more than 1.7 million patients and touched many more through its website and outreach events. Amongst the more common issues that patients and caregivers call PAF for help with include the inability to afford transportation expenses, inability to afford rent/mortgage, inability to afford their co-pay for medications, and inability to afford utilities and resulting shut-off notices. PAF serves patients with numerous health conditions, the majority of which have some form of cancer. Non-cancer diagnoses included rare diseases, chronic and debilitating conditions, nervous system conditions, cardiovascular conditions and vascular disease, autoimmune diseases, and diabetes. PAF solicits and receives donations to its programs from a multitude of sources including government agencies, non-profit organizations and for-profit organizations in the healthcare sector, including pharmaceutical manufacturers and healthcare providers. Patient Advocate Foundation also has several distinct programs targeting specific populations with an emphasis on the underserved.

Life Branches NFP Inc

Provide emotional wellness mental health to rare disease patients

Clinical Trials

For a list of clinical trials in this disease area, please click here.