Spreading Mitochondrial Disease Awareness

I wanted to use this platform as an opportunity to spread mitochondrial disease awareness and to try and help others who have mitochondrial disease. I have the KSS version. From around the age of eight years old, I was diagnosed with Kearns–Sayre syndrome (KSS). It is a rare multisystemic disorder, which means it affects the brain, organs, eyes, ears, muscles, bones, and both the peripheral and autonomic nervous systems, with some of these different bodily systems malfunctioning all at once.

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Diagnosis and Symptoms

When I started showing symptoms, I had all the tests performed and was told my illness was completely sporadic. Some people are born with this condition (i.e., genetic), and some develop it later in life with varying degrees of severity. Generally, the younger you are when you start experiencing the illness, the more it can affect you later in life.

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Association with Other Disorders

KSS may be associated with other disorders and/or conditions. KSS belongs (in part) to a group of rare disorders known as mitochondrial encephalomyopathies. Mitochondrial encephalomyopathies are disorders in which a defect in genetic material (DNA) arises from a part of the cell structure (mitochondria) that produces energy (in the form of adenosine triphosphate, or ATP), causing the brain and muscles to function improperly due to lack of energy (encephalomyopathies). In these disorders, abnormally high numbers of defective mitochondria are present. In approximately 80 percent of affected individuals with KSS, tests will reveal missing genetic material (deletion) involving the unique DNA in mitochondria (mtDNA deletion is what I have).

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Symptoms Experienced

Having KSS, I and many others have experienced many of the symptoms, which I will list below:

• CPEO (chronic progressive external ophthalmoplegia syndrome): This is characterized by isolated involvement of the muscles controlling movement of the eyelid (levator palpebrae, orbicularis oculi) and eye (extra-ocular muscles). This results in ptosis (drooping eyelids) and ophthalmoplegia (paralysis or weakness of the eye muscles), respectively, as well as pigmentary retinopathy in both eyes (loss of vision) and decreasing peripheral vision and cardiac conduction abnormalities.

• Other symptoms may include cerebellar ataxia (an inability to coordinate balance, gait, extremities, and movements), proximal muscle weakness, tension headaches/migraines, peripheral neuropathy (pain, weakness, or numbing of limbs), dysphagia (swallowing/chewing problems), chronic fatigue, and circulation issues.

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Managing the Disease

This is the nature of mitochondrial disease. All of these symptoms started to affect me when I was seven to eight years old. Some of the symptoms have progressively worsened, but I have managed to find solutions and ways to try and manage most of these symptoms. That said, there is no cure as yet, and this is a progressive condition.