Medical Resources

Preparing for medical appointments and emergencies can feel overwhelming, especially with a rare disease like LBSL. Our medical resources include emergency protocols, hospital planning guides, genetic testing information, and tools you can share with healthcare providers to help them better understand LBSL.

LBSL Medical Protocols

We consulted experts to create custom emergency protocols for LBSL patients. Print these forms and have your doctor or healthcare provider fill out and sign. Keep this with you and share with emergency medical personnel or clinicians unfamiliar with you and/or LBSL.

Mitochondrial Protocols

Mito Action has created several emergency protocols for people with mitochondrial disorders (including LBSL). These include instructions for what to do for vomiting, fever, infection, surgery, and dehydration.

Mitochondrial Medical Protocols

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Emergency Planning

Mito Action: Planning for Emergencies
United Leukodystrophy Foundation 2023 Family Conference: Navigating Hospital and ER Visits
Leukodystrophy Family Forum: What Do I Do When I Have to Go to the ER or be Admitted to the Hospital

Genetic Testing and Newborn Screening

Supplemental Newborn Screening 
Rare Genomes Project (no-cost Whole Genome Sequencing for undiagnosed people suspected of having a rare disease of genetic origin)