In January 1997 Jeffrey began having problems walking. We took him to see his
pediatrician whom immediately ordered x-rays. The next day we were told x-rays
showed nothing. Lab tests were then performed to see if he had a muscular disorder.
Those tests were negative.
By March 1997 Jeffrey had lost more previously acquired
skills. Where once he could lift a cup with one hand and
drink, it now took both hands. The Friday before Easter
1997 he started having seizures. Our neurologist at the
time whom told us that Jeffrey was just learning disabled
was out of town. Fortunate for us the neurologist on call
got us to the hospital for immediate testing.
A geneticist came and spoke with us. He and the neurologist
informed us that they were going to run tests for genetic
disorders. All came back negative. Then the geneticist informed
us that there was one last test we could have done. It was a
blood test for Infantile Batten Disease. Which was still at the
time experimental. The neurologist told us if he didn't have
Infantile Batten Disease then Jeffrey had something either more
rare or unknown.
May 30, 1997 we were given the official diagnosis of Infantile
Batten Disease. It was honestly not a shock for us. We remained
calm until getting home, where the words finally kicked in.
Infantile Batten Disease is a progressive neurological
disorder.Both parents must carry the defective gene.
Symptoms associated with this disease include loss of
previously acquired skills,seizures,blindness. As well
as other problems. Onset of this disease varies. Generally
between 6 months and of two years of age. The disease
progresses very quickly. Often the child becomes somewhat
comatose in later stages. It has been documented that the
averages ages of death is 5-6 years of age. But there is
no defanite on this.Each child, each case is different.
Jeffrey is now seven years old and has had many problems.
He is fed by g-tube and takes several medications for various
things. He is blind and totally unable to move voluntarily.
Nor is he able to speak or cry. There are times we get alittle
smile or coo from him. Those are very treasured and special.
Hospice comes in and checks on him weekly. They are a
wonderful organization to have.
For more information contact:
Batten's Disease Support and Research Association
2600 Parsons Avenue