Batten Disease, A Parent's Nightmare

If you are a parent, problems like Batten disease are the things your nightmares are made of. The only good news about the disease is that it is rare and that there is a little glimmer of hope for treatment now with gene therapy and stem cell research.

Batten disease, more correctly known as Spielmeyer-Voght-Sjogren-Batten disease, is classified as a autosomal recessive neurodegenerative disorder. That is a bit of a mouth full so it gets shortened down to NCLs, neeuronal ceroid lipofuscinosis, which is what it really is. Looking at those long words is intimidating but you can guess most of it. You see recessive so you know it is genetic. “Neuro” is there so that is dealing with nerve transmission. Then the worst part is degenerative; it is only going to get worse. It is tough to identify correctly as there are 4 types with each one dependent on the age of onset. It can be anywhere from early infants to adulthood. For our purposes, we will deal more with the younger onsets.

Another problem with the diagnosis is some will have certain symptoms but not others so it often mimics other issues. Genetic testing can identify about six of the potential markers but the research is still young so there is a lot to learn.

Symptoms

Like every disease, the physician must look at all the symptoms to get an accurate diagnosis. For example, a runny nose could be allergies or AIDS so you have to look for all the signs. Because the base of the disease is neurological those will most likely be the signs you will see first. They might be slow to walk or talk and/or fall a lot. They might be a little clumsy or off balance. See the problem? That is almost all 3 year olds. Vision problems are likely (in the late stages they will go blind) and can be prone to seizures.

Treatment

The prognosis for patients is currently dim. It is a life shortening disease and towards the end will leave the child unable to see or walk and leaving them bedridden. Dementia will follow.

There are 2 hopeful areas. In 2004 Cornell started clinical trials with gene replacement therapy. By use a harmless virus they where able to replace some genes and slow down the progression somewhat. There is also biotechnological research that has now also started trials that is based on using one of the existing stem cell lines. They are reporting positive results. For now, it is hoped that one of these two lines will lead to a cure.