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What is Batten Disease?
Batten Disease is an inherited, neurodegenerative disease that
primarily strikes infants, toddlers and school-aged children. Presently, there is no treatment, and it is always fatal.
How common is it?
Only about three in every 100,000 are affected. However, we believe that even the life of a single
child is worth saving. If there is a way to save even one set of parents from watching their child degenerate to become totally
helpless and then die, should we not try?
Forms of Batten Disease
There are five major
forms of Batten Disease classified by age of
onset, pathology and gene identification.
Infantile:
onset at 6 mos.-2 yrs.; life expectancy is 5-10 yrs.; CLN1 gene
"Classic" Late Infantile:
onset at 2-4 yrs.; life expectancy is 8-12 yrs.; CLN2 gene
"Variant" Late Infantile: onset
at 2-5 yrs.; life expectancy is 8-13 yrs.; CLN6 gene
Juvenile: onset at 5-10 yrs.; life expectancy is
teens-early twenties; CLN3 gene
Adult: onset before 40 yrs.; life expectancy varies; unidentified gene
The Disease
Batten Disease was first described
in 1826. It is the common name for a group of diseases known as neuronal ceroid lipofuscinosis and is one of the more common
of the neurodegenerative diseases. It also belongs to a group known as lysosomal storage disorders. The symptoms are caused
by the buildup of substances called lipopigments in the body's tissues. As these fatty substances continue to accumulate,
they cause the death of specific cells, called neurons, in the brain, retina and central nervous system. At this time, there
is no cure or viable treatment.
Batten Disease is rarely diagnosed immediately and is often mistaken for epilepsy,
mental retardation, retinitis pigmentosa or even schizophrenia in adults. Onset is characterized by beginning vision loss,
seizures, clumsiness and personality and behavior changes. After onset, Batten Disease causes continuing physical and mental
deterioration leading to death.
It is an autosomal recessive, inherited disease, meaning both parents must
carry the defective gene in order for a child to be affected. A child that inherits just one bad copy is a carrier.
Even though Batten Disease is an inherited disorder, Taylor is the only affected member of her family. Taylor's
brother and sister were lucky enough to inherit at least one good copy but may still be carriers.
Infantile NCL
Taylor has Infantile NCL, the form of Batten Disease that generally strikes earliest and progresses the most quickly.
It is caused by the lack of an enzyme responsible for removing waste deposits from the body's tissues. Average age of
onset is between six months and two years, and average life expectancy is between five and ten years. Classic symptoms
include seizures, blindness and rapid mental and physical decline. It is the rarest form of Batten Disease, but the children
affected by it are in a true race against time.
Taylor's Prognosis
Batten Disease is devastating,
and its diagnosis leaves little room for hope. However, Taylor is very special in that she has some enzyme production, while
most children with Infantile NCL have none. This unique factor explains Taylor's late age of onset and the fact that aside
from her visual impairment, she is, in many ways, still a very normal little girl. We must work quickly in our mission to
save Taylor's life, because no one can predict what tomorrow will bring. However, Taylor may truly have the best chance
of any Batten child. What we may have here in Charlotte is a pioneer: a ray of hope and a chance to defy a cruel disease that
always kills.
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