As mito can affect each person differently, and many family physicians are unfamiliar with the disease, the process leading to a diagnosis can be long and frustrating. This process usually begins with a family physician sending a referral to a specialist.
Specialists who diagnose mito can include neurologists, metabolic specialists, geneticists, cardiologists, neuro-ophthalmologists or endocrinologists. The type of specialist you see may depend on which part of your body is affected. Specialists will take a medical history, conduct a thorough physical evaluation, measure your strength and endurance, and possibly order a series of specialized tests.
Certain blood tests may be ordered to examine amino acids, acylcarnitines, lactate, or pyruvate levels. Urine tests are often ordered as they can show indicators of reduced mitochondrial function.
A genetic test may be ordered to screen for known, rare and unknown genetic mutations and requires a saliva, blood or muscle tissue sample. A muscle biopsy may be ordered, which involves removing a small piece of muscle tissue. The tissue is treated with a dye that stains the mitochondria, revealing certain mitochondrial enzymes, proteins or muscle cells with excessive mitochondria.
Although receiving a diagnosis can often be a long and uncertain process, knowing exactly which mitochondrial disease you have can help you and your loved ones better understand the disease and plan
a path forward. It can also help you understand the long-term realities of the disease and help your healthcare team create a supportive treatment plan. Getting a diagnosis may ensure other diseases are not overlooked, prevent the wrong treatments from being used, and can stop the need for additional or unnecessary diagnostic testing.
Receiving a genetic diagnosis can identify certain inherited mitochondrial diseases. If this is the case, your specialist may recommend that family members see a genetic counsellor and undergo genetic testing.
A confirmed genetic diagnosis also aids family planning discussions to learn how the inherited disease may affect future children. There are mitochondrial reproductive options, such as pre-implantation genetic diagnosis (PGD) and tests, such as amniocentesis, to determine mitochondrial disease risk.
A genetic diagnosis is also helpful should you ever be interested in enrolling in a clinical trial. Some clinical trial studies may require confirmation of diagnosis through genetic testing to participate.