How to Diagnose Batten Disease

Batten disease is an inherited disorder that attacks the nervous system in children between the ages of four to 10 years old. As time progresses, the child develops mental impairment, progressive loss of sight, worsening seizure activity and decreasing motor skill control. Eventually, children with Batten disease become bedridden, blind and lose mental capacity. Batten disease is fatal by the late teen years or early twenties.

Instructions

Difficulty: Moderately Challenging

1. Take your child to an ophthalmologist to detect a loss of cells within the eye by doing electrical studies of the eye as a part of screening. If found, take your child to a physician who specializes in neurology for further assessment.
2. Obtain complete medical records and history from the child's primary physician to aid in the process of diagnosis and treatment. Have your child's blood and urine tested as directed by the doctor. Elevated amounts of dolichol,a chemical found in the urine, may be found in many children with Batten disease.
3. Ask your child's doctor about tissue and skin sampling. By magnifying a piece of tissue, the doctor can spot special cell types of deposits in the skin cells of children with Batten disease.
4. Have your child undergo an EEG which measures the electrical currents within the brain. This assists the doctor in seeing the electrical pattern activity seen in Batten's disease.
5. Bring your child for the x-ray imaging tests ordered by their doctor such as brain scans to assess for changes within the brain itself or CT and MRI exams which can help identify any areas in the brain that may be decaying.

Tips & Warnings

• Search out further options for treatment such as the ones offered by National Institute of Neurological Disorders and Stroke that currently funds many special projects for the relevant research.
• Find support groups that can assist the family as well as the child in becoming as knowledgeable as possible through support and guidance. A great place to start is by contacting The Batten Disease Support & Research Assn., 166 Humphries Dr., Suite 2, Reynoldsburg, OH 43068