About Sam vs VWM

On April 4, 2013 our then 2 year old son was diagnosed with a very rare brain disease called Vanishing White Matter disease.

Vanishing White Matter disease (VWM), also known as Childhood Ataxia with Central Nervous System Hypomyelination (CACH), is a very rare condition that destroys myelin, the brain’s white matter. In doing so, it permanently affects transmission of brain signals to the rest of the body. It is one of about 40 conditions that affect the white matter of the brain known collectively as Leukodystrophies. There are currently only about 250 people worldwide who are known to suffer from the disease.

VWM is a chronic and progressive condition, and is unusual in that periods of rapid and severe deterioration can be caused by minor head trauma, fevers and even anesthesia. Few sufferers survive more than 5-10 years after onset. While every patient is different, as the disease progresses, sufferers can expect some or all or the following symptoms: loss of motor skills (walking usually goes first, followed by ability to sit unassisted, speech, use of hands, head control and ability to swallow), loss of vision, epileptic seizures, vomiting, irritability, and comas. Some patients die during coma; others recover slowly, but never to the same level as before.

Symptoms generally appear in young children (usually between 2 – 6 years old) who were previously developing fairly normally. The severity of the disease is strongly correlated to the age of onset.

VWM/CACH is a recessive genetic disease, which means that both parents carry a mutation on the same gene. Each of our children has a 25% chance of having VWM, and a 50% chance of being a carrier. 

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