Children Commonly Misdiagnoised with Eye Disease Instead of Battens Disease

Neuronal Ceroid Lipofuscinosis also known as Battens Disease affects 2 to 4 of every 100,000 children born in the United States yearly. An eye exam alone is not enough to diagnosis this disorder therefore it is generally misdiagnosed as another eye disease until other symptoms take place which could take years. Our child was diagnosed with Rod-Cone Dystrophy and it wasn't until several years later she had her first seizure at the age of twelve and we were taken to Children's Mercy Hospital in Kansas City, Missouri.

The neurologist on staff, Dr John Alexander ran various tests, and due to the progressive deterioration in her eyes and the mental impairments that were happening more frequently Dr. Alexander requested we have lab tests done. Shortly after we received word that our daughter was diagnosed with Juvenile NCL.

Juvenile NCL is one of four stages of Battens disease the others are Infantile NCL, Late Infantile NCL and Adult NCL. All four stages are fatal and some of the shared symptoms are seizures, progressive eye loss and progressive deterioration of motor skills. Battens disease occurs when two parents are missing the same defective gene. The child has a one in two chance of inheriting just one copy of the gene, which would make them a carrier, meaning they will not develop the disease however can pass it along to their children. The child has a one in four chance of inheriting two copies of this same defective gene, one from each parent and developing the disease.

Battens disease will leave you blind, bedridden and unable to communicate and is fatal. It is not contagious and currently is not preventable. Due to the defective gene there becomes a buildup of Lipopigments in the bodys tissues, which are made of fats and proteins. These deposits are one way the doctors diagnosis Battens Disease through skin samples, other testing may include blood / lab work, brain scans, EEG and studies of the eyes.

The Battens Disease Support & Research Association has a very informative website which contains links and articles such as Research and Clinical testing, Gene mutation database, NCL Publications, audio and transcripts of news briefs. The website also has support forums and a section titled Faces in honor of our angel warriors. BDSRA also offers a Support phone line, parent mentoring program, sibling programs, bereavement outreach program, annual conferences and more. You can visit their website at http://www.bdsra.org/