 |
What is Late Infantile Batten Disease?
(AKA: Jansky-Bielschowsky Disease)
Named after the British pediatrician who discovered the disease, Batten Disease is a fatal, inherited disorder of the nervous system that begins in early childhood. It is an autosomal recessive disorder, which means that both parents are carriers of the disease (they carry the defective gene). The disease affects nerve cells in the brain and other parts of the body, causing a progressive loss of physical and mental skills. Symptoms of the disease can begin appearing in children as young as 2, but may have a delayed onset, and may strike a previously normal child as old as 10. Early symptoms of the disease include the loss of muscle coordination (ataxia) and seizures. As the disease is rare, occurring in "2 to 4 of every 100,000" children in the US and Canada (Batten Disease Support and Research Association, 2003), it is not uncommon to mistake the disease for a seizure disorder like epilepsy. The disease is progressive, however, and whether the symptoms present rapidly or slowly; over time the affected child experiences developmental delay including cognitive and motor impairment along with a progressive loss of sight. The now common seizures begin to worsen, not only in intensity, but also duration and frequency and the child may begin to display frequent jerking movements that appear as small seizures (myoclonic seizures). Eventually, these seizures can resist the normal course of anti-convulsant treatments and the parent must learn to adapt to the child's ever worsening state. Most, if not all affected children, become completely blind by the age of 8, become bedridden, and become totally dependent on a loved one for continuous care.
There are four types of Batten Disease; Infantile, Late Infantile, Juvenile, and Adult; all having similar presentations, appearing at different onsets in one's life. Late infantile Batten Disease* (Jansky-Bielschowsky Disease) begins between ages 2 and 4. Of the four forms of this disease, this form progresses more rapidly and results in death between ages 8 and 12. The disease is caused by an abnormal buildup of substances in the nerve cells throughout the brain and body, which prevents them from working properly. These substances are normally broken down and removed from the body by an enzyme, however, in Batten Disease, the gene responsible for producing the enzyme is faulty, so the normal process cannot occur. As the brain is the control center of the whole body, blockages in the messages to other parts of the body will prevent those parts working efficiently, even though the parts themselves seem quite healthy (Institute of Child Health, 2004).
Like many children diagnosed with this form of Batten Disease, Chad was began to display the early signs of the symptoms around the age of 3. He was then diagnosed with the disease in 1995 at the age of 4. There was not much known about the disease then, and both Chad's parents were faced with the grim reality that their first born son would not see his 13th birthday. The true form of the disease raged inside Chad for 9 years of his life until his passing on Easter Sunday, April 11th, 2004, one month after celebrating his 13th birthday. True to the diseases form, Chad ended his life blind, bed ridden, and weakened by the pneumonia and failing kidneys.
In January of 2004 through thanks to the years fundraising efforts of The Nathan's Battle Foundation and a team of dedicated medical researchers, a discovery was made, and a potential treatment for this devastating disease was set before the FDA for approval. In February of 2004, approval was granted for human clinical trials to begin, giving hundreds of children hope for the future and in June of 2004, the first child received this revolutionary treatment. Even more encouraging is that other potentially beneficial treatments are on the heels of the one stated above are expected to be set before the FDA for approval on human clinical trials within the next couple of years.
Although
Chad did not live long enough to receive this treatment, others will soon
have access to it and the course of the disease will eventually be changed.
As funds continue to be available, scientists will be able to continue
to perfect the treatments with the hopes of being able to stop the disease's
progression and give back life to the afflicted child and his/her family.
The dedicated researchers have now shown they are on the right track,
and as such, raising the funds to continue supporting this research is
more important than ever.
*AKA Late Infantile NCL (Neuronal Ceroid Lipofuscinoses).
For more
information on Batten Disease visit the
Click
Here to Subscribe to the "Chad's Hope Bulletin Board and Chat Group"
(Must register with Yahoo.ca)