How does Mitochondria affect the body?
The parts of the body that need the most energy, such as the heart, brain, muscles and lungs, are the most affected by mitochondrial disease. The affected individual may have strokes, seizures, gastro-intestinal problems, (reflux, severe vomiting, constipation, diarrhoea), swallowing difficulties, failure to thrive, blindness, deafness, heart and kidney problems, muscle failure, heat/cold intolerance, diabetes, lactic acidosis, immune system problems and liver disease.
What is the prognosis for individuals
a tough question to answer because the prognosis depends upon the severity of the disease and other criteria. As more research dollars are raised to find more effective treatments and ultimately a cure, some of the affected children and adults are living fairly normal lives with mitochondrial disease. In other cases, children may not be able to see, hear, talk or walk. Affected children may not survive beyond their teenage years. Adult-onset can result in drastic changes from an active lifestyle to a debilitating illness is a short amount of time.
What symptoms could an undiagnosed individual exhibit
The child or adult may have seizures, severe vomiting, failure to thrive, heat/cold intolerance, poor muscle tone, delayed achievement of milestones, severe diarrhoea/constipation, feeding problems, unable to fight typical childhood infections or repeated infections and fevers without a known origin. A “red flag” for mitochondrial disease is when a child or adult has more than three organ systems with problems or when a “typical” disease exhibits atypical qualities.
When are you at risk
The child or adult is at highest risk for neurological and organ damage during and for the two weeks following an illness. Therefore, even a simple flu or cold virus can have devastating effects on the patient, even death. Any illness must be treated immediately with medical interventions, like IV fluids and IV antibiotics.
Can adults have Mitochondrial Disease
Yes, many adults are diagnosed with adult-onset mitochondrial disease. Some of these individuals have been ill their whole lives but went undiagnosed. Others have carried the genetic mutation that causes mitochondrial disease since birth but did not show any symptoms until a severe illness brought them on. Adult mitochondrial patients are affected in a similar manner to the children who are affected.
When does Mitochondrial Disease Appear?
At any age. For some it appears at birth. For others, it develops over time. We’re learning it’s not at all rare but, due to a lack of physician and public awareness, mitochondrial disease is not often diagnosed. Only in the past 10 years, with advances in genetics and molecular biology, have we a better understanding of the complexity in mitochondrial disorders. Even so, the definitive cause (or causes) of mitochondrial disease continues to evolve. According to the Centres for Disease Control (CDC):
- 1 in 2,500-3,000 are affected by mitochondrial disease
- 1 in 2,500 are affected by Cystic Fibrosis
- 1 in 110 are affected by Autism
- 1 in 500 are affected by Parkinson’s
- 1 in 85 are affected by Alzheimer’s
- 1 in 25,000 are affected by Leigh’s Disease, a fatal form of mitochondrial disease
How can a person request testing for Mitochondrial Disease?
A conversation with your primary care physician is the first step. A referral to a specialist in mitochondrial disease is often needed for diagnosis.
How severe does Mitochondrial Disease need to be for a doctor to request testing?
There is no single test to diagnose mitochondrial disease in most patients. There are varying degrees of manifestation of symptoms so, along with your primary care physician a specialist can evaluate the appropriate next steps in diagnosis.